729 chr21 19000006 19000007 rs570810283 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19000035 19000036 rs201156550 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 729 chr21 19000099 19000100 rs182150634 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000134 19000135 rs552438478 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19000256 19000257 rs570751049 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19000281 19000281 rs539113614 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 729 chr21 19000301 19000302 rs186755593 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 21.000000,4987.000000, 0.004193,0.995807, 729 chr21 19000332 19000333 rs190884090 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 729 chr21 19000342 19000343 rs78557114 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 729 chr21 19000360 19000361 rs145244103 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19000373 19000374 rs117796599 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 729 chr21 19000390 19000391 rs552944894 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19000433 19000434 rs545977829 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19000533 19000534 rs564384465 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000535 19000536 rs115993542 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 729 chr21 19000546 19000547 rs544104330 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000559 19000560 rs562308478 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19000563 19000564 rs77314268 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4944.000000,64.000000, 0.987220,0.012780, 729 chr21 19000570 19000571 rs376374985 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 729 chr21 19000584 19000585 rs372498356 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 729 chr21 19000586 19000587 rs147632274 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 51.000000,4957.000000, 0.010184,0.989816, 729 chr21 19000602 19000603 rs560276361 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000607 19000608 rs527426154 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19000633 19000634 rs370759849 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 729 chr21 19000663 19000664 rs535613767 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 729 chr21 19000680 19000681 rs9305824 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499382 0.017561 unknown exact 1 24 1000GENOMES,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2416.000000,2592.000000, 0.482428,0.517572, maf-5-some-pop,maf-5-all-pops 729 chr21 19000694 19000695 rs184071940 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 729 chr21 19000727 19000728 rs188507457 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 729 chr21 19000739 19000740 rs550066355 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19000740 19000741 rs568291650 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000748 19000749 rs535825026 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19000751 19000752 rs140631931 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000762 19000763 rs565829828 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19000778 19000779 rs774720433 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19000780 19000781 rs112909668 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 729 chr21 19000785 19000786 rs539545634 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000807 19000808 rs557888294 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19000808 19000809 rs763400739 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19000824 19000824 rs113872935 0 + - - -/T genomic insertion by-cluster 0.5 0 unknown between 1 3 BILGI_BIOE,BUSHMAN,EVA_GENOME_DK, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 729 chr21 19000828 19000829 rs576242120 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19000840 19000841 rs543732097 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19000863 19000864 rs556005352 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19000878 19000879 rs111339204 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 5 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 729 chr21 19000886 19000887 rs192913583 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 729 chr21 19000913 19000914 rs10084613 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.482083 0.092937 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2978.000000,2030.000000, 0.594649,0.405351, maf-5-some-pop,maf-5-all-pops 729 chr21 19000943 19000944 rs527334757 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19000947 19000948 rs140184704 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4980.000000,28.000000, 0.994409,0.005591, 729 chr21 19000951 19000952 rs74430583 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.115438 0.210697 unknown exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 308.000000,4700.000000, 0.061502,0.938498, maf-5-some-pop 729 chr21 19000962 19000963 rs375835909 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 729 chr21 19000966 19000967 rs376046898 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 729 chr21 19000972 19000973 rs549743821 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19000981 19000982 rs12627631 0 + C C A/C genomic single by-cluster,by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 2 CSHL-HAPMAP,ENSEMBL, 1 A, 2.000000, 1.000000, 729 chr21 19001007 19001008 rs867516243 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19001010 19001011 rs184791223 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 729 chr21 19001027 19001028 rs765251045 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001039 19001040 rs749887202 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001063 19001064 rs529219367 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19001082 19001083 rs547338056 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19001116 19001117 rs757913233 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001139 19001140 rs532675356 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 729 chr21 19001228 19001229 rs565743298 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19001274 19001275 rs545743945 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 729 chr21 19001285 19001285 rs376865360 0 + - - -/CC genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 729 chr21 19001314 19001315 rs539511585 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19001388 19001389 rs146455079 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4892.000000,116.000000, 0.976837,0.023163, maf-5-some-pop 729 chr21 19001392 19001393 rs141330270 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4892.000000,116.000000, 0.976837,0.023163, maf-5-some-pop 729 chr21 19001418 19001419 rs754681104 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001453 19001454 rs559716869 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 729 chr21 19001462 19001463 rs376873138 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 729 chr21 19001481 19001482 rs12626374 0 + G G A/G genomic single by-hapmap 0 0 unknown exact 1 1 CSHL-HAPMAP, 0 729 chr21 19001523 19001524 rs781382485 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001534 19001535 rs537638735 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19001548 19001549 rs555727114 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19001550 19001551 rs574275837 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19001555 19001556 rs868572331 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19001560 19001561 rs117734239 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 72.000000,4936.000000, 0.014377,0.985623, maf-5-some-pop 729 chr21 19001565 19001565 rs200796317 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown between 1 1 1000GENOMES, 2 -,T, 4971.000000,37.000000, 0.992612,0.007388, 729 chr21 19001584 19001585 rs866323349 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19001628 19001629 rs145118834 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 729 chr21 19001675 19001676 rs552922142 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 729 chr21 19001679 19001681 rs138251202 0 + AG AG -/AG genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 729 chr21 19001681 19001681 rs769045884 0 + - - -/AG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001705 19001705 rs11394663 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 3 BILGI_BIOE,GMI,PJP, 0 729 chr21 19001706 19001706 rs558059949 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 729 chr21 19001707 19001708 rs79663560 0 + A A A/C genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 729 chr21 19001725 19001726 rs866855225 0 + T T A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 729 chr21 19001725 19001725 rs397978295 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 HGSV, 0 729 chr21 19001738 19001739 rs117099235 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 unknown exact 1 4 1000GENOMES,EVA_DECODE,GMI,SSMP, 2 C,T, 4936.000000,72.000000, 0.985623,0.014377, maf-5-some-pop 729 chr21 19001739 19001740 rs572794821 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 729 chr21 19001789 19001790 rs77119338 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 unknown exact 1 7 1000GENOMES,BGI,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 167.000000,4841.000000, 0.033347,0.966653, maf-5-some-pop 729 chr21 19001793 19001794 rs770153950 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001826 19001827 rs139001260 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 54.000000,4954.000000, 0.010783,0.989217, 729 chr21 19001881 19001881 rs753403627 0 + - - -/AAACA genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 729 chr21 19001900 19001901 rs576095839 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19001969 19001970 rs528544311 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19001988 19001989 rs543600239 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 729 chr21 19001989 19001990 rs77726767 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, maf-5-some-pop 729 chr21 19001991 19001992 rs562069912 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 729 chr21 19002094 19002095 rs116111730 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 729 chr21 19002108 19002109 rs563737617 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19002120 19002121 rs559292249 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19002129 19002130 rs530722096 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 729 chr21 19002146 19002150 rs139030090 0 + AAAT AAAT -/AAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.499295 0.018757 unknown range 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,SSMP, 2 -,AAAT, 2598.000000,2410.000000, 0.518770,0.481230, maf-5-some-pop,maf-5-all-pops 729 chr21 19002150 19002150 rs772235294 0 + - - -/AAAT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19002154 19002158 rs71333566 0 + AAAT AAAT -/AAAT genomic deletion unknown 0.5 0 unknown range 1 1 BUSHMAN, 2 -,AAAT, 1.000000,1.000000, 0.500000,0.500000, 729 chr21 19002157 19002161 rs142135905 0 + TAAA TAAA -/TAAA genomic deletion unknown 0 0 unknown range 1 1 PJP, 0 729 chr21 19002165 19002169 rs560049182 0 + TAAA TAAA -/TAAA genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 729 chr21 19002168 19002169 rs551397748 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 729 chr21 19002182 19002183 rs570128743 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002189 19002190 rs73195007 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 729 chr21 19002199 19002200 rs537198881 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002213 19002214 rs574189359 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 729 chr21 19002264 19002265 rs772376941 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19002301 19002302 rs776247942 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19002336 19002337 rs549509289 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002358 19002359 rs567774038 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002359 19002360 rs868503887 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19002365 19002366 rs535303033 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002369 19002370 rs553725838 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 729 chr21 19002381 19002382 rs113035044 0 + T T C/T genomic single by-cluster,by-1000genomes 0.5 0 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 729 chr21 19002408 19002409 rs761690362 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19002424 19002425 rs570720733 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19002440 19002441 rs149438503 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 729 chr21 19002447 19002448 rs539430829 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19002456 19002457 rs773133566 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19002494 19002495 rs557515122 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002587 19002588 rs71319647 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 HUMANGENOME_JCVI, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 729 chr21 19002608 19002609 rs865961053 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19002609 19002610 rs113430183 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 729 chr21 19002627 19002628 rs376843477 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 729 chr21 19002642 19002643 rs543159701 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002643 19002644 rs561884751 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19002644 19002645 rs191883095 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002648 19002649 rs183694850 0 + T T C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 729 chr21 19002714 19002715 rs541890283 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 729 chr21 19002720 19002721 rs559207812 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 729 chr21 19002726 19002727 rs533099715 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19002782 19002782 rs768172326 0 + - - -/TAACATATTACT genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 729 chr21 19002801 19002802 rs188459432 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 729 chr21 19002830 19002831 rs2824402 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.486984 0.079614 unknown exact 1 25 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2100.000000,2908.000000, 0.419329,0.580671, maf-5-some-pop,maf-5-all-pops 729 chr21 19002842 19002843 rs563539323 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002876 19002877 rs182351878 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19002893 19002894 rs148098007 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19002894 19002895 rs567820263 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002946 19002948 rs553932949 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AA, 19.000000,4989.000000, 0.003794,0.996206, 729 chr21 19002957 19002957 rs745607657 0 + - - -/C genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19002967 19002968 rs80022195 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BL, 0 729 chr21 19002968 19002968 rs11437713 0 + - - -/T/TT genomic insertion by-cluster 0.375 0.216506 unknown between 1 InconsistentAlleles 5 ABI,BILGI_BIOE,GMI,HUMANGENOME_JCVI,PJP, 2 -,T, 1.000000,3.000000, 0.250000,0.750000, 729 chr21 19002969 19002969 rs71981147 0 + - - -/T/TC genomic insertion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown between 1 InconsistentAlleles 2 1000GENOMES,PJP, 2 -,TC, 4996.000000,12.000000, 0.997604,0.002396, 729 chr21 19002981 19002982 rs185585821 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19002986 19002986 rs397960615 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 729 chr21 19002997 19002998 rs547254799 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19003022 19003023 rs571965529 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19003035 19003036 rs539342704 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19003053 19003054 rs141841276 0 + A A A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 729 chr21 19003150 19003151 rs376480032 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,SSMP, 2 -,C, 25.000000,4983.000000, 0.004992,0.995008, 729 chr21 19003151 19003152 rs771548816 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19003152 19003153 rs561669998 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19003185 19003186 rs150630181 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_DECODE,ILLUMINA, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19003198 19003199 rs761538321 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 729 chr21 19003219 19003220 rs190053751 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19003242 19003243 rs767225559 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003245 19003246 rs752951219 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003253 19003254 rs555145862 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19003296 19003297 rs868253282 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19003368 19003369 rs573437635 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19003377 19003378 rs759910495 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19003380 19003381 rs540819844 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19003383 19003384 rs181806934 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 729 chr21 19003420 19003421 rs756506327 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003426 19003427 rs778066618 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003439 19003440 rs768004220 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19003441 19003442 rs552797802 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19003455 19003456 rs551632020 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 729 chr21 19003474 19003475 rs749800692 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003474 19003474 rs397867870 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 729 chr21 19003482 19003483 rs577471759 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19003558 19003559 rs143598000 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 729 chr21 19003574 19003575 rs563665390 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 729 chr21 19003592 19003593 rs757889383 0 + G G A/C/G genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 729 chr21 19003606 19003607 rs868021136 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19003608 19003609 rs779103679 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003671 19003688 rs746562429 0 + TGCTTTTCACGCTCTTT TGCTTTTCACGCTCTTT -/TGCTTTTCACGCTCTTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003680 19003681 rs530834204 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19003696 19003697 rs775736095 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19003808 19003809 rs2824403 0 + T T A/T genomic single by-submitter,by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 PERLEGEN, 1 T, 418.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 729 chr21 19003838 19003839 rs543036814 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19003859 19003860 rs61570521 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.086183 0.188849 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 226.000000,4782.000000, 0.045128,0.954872, maf-5-some-pop 729 chr21 19003901 19003902 rs772136132 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003953 19003954 rs775794892 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19003954 19003955 rs764420236 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19003990 19003991 rs377406700 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 729 chr21 19004012 19004013 rs867306707 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 729 chr21 19004028 19004029 rs747827015 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004041 19004042 rs528642326 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19004077 19004078 rs547168840 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19004084 19004085 rs571879836 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19004103 19004104 rs532817210 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19004118 19004119 rs753842634 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19004136 19004137 rs773045536 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004149 19004150 rs762852542 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004167 19004168 rs187112760 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19004179 19004180 rs575013390 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 729 chr21 19004197 19004198 rs535130103 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19004207 19004208 rs766337133 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004235 19004236 rs555383460 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19004236 19004237 rs75776912 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 729 chr21 19004245 19004246 rs534418363 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19004263 19004264 rs550172352 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 729 chr21 19004284 19004285 rs76871066 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 729 chr21 19004348 19004349 rs188462418 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19004386 19004387 rs759102937 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004417 19004418 rs767015554 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004454 19004455 rs181355981 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 729 chr21 19004477 19004478 rs147199339 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 729 chr21 19004530 19004531 rs78938519 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 729 chr21 19004549 19004550 rs755782092 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004581 19004582 rs543583527 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 729 chr21 19004602 19004603 rs764532317 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004618 19004619 rs140591850 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 729 chr21 19004645 19004647 rs58671359 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 15 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,AA, 1986.000000,3022.000000, 0.396565,0.603435, maf-5-some-pop,maf-5-all-pops 729 chr21 19004646 19004647 rs201260647 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 MixedObserved 2 GMI,ILLUMINA, 0 729 chr21 19004646 19004648 rs797010266 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 HGSV, 0 729 chr21 19004689 19004690 rs754296080 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004715 19004716 rs779855182 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19004797 19004798 rs746859954 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 729 chr21 19004848 19004849 rs2405638 0 + A A A/C genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 A, 420.000000, 1.000000, 729 chr21 19004918 19004919 rs757797195 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19004921 19004921 rs35113705 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 729 chr21 19004951 19004952 rs368297599 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 729 chr21 19004956 19004957 rs113975402 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.093417 0.194889 unknown exact 1 12 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 246.000000,4762.000000, 0.049121,0.950879, maf-5-some-pop 729 chr21 19004959 19004960 rs540746651 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 729 chr21 19004967 19004968 rs145458312 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 unknown exact 1 6 1000GENOMES,EVA-GONL,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 126.000000,4882.000000, 0.025160,0.974840, maf-5-some-pop 729 chr21 19005016 19005017 rs532729031 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19005034 19005035 rs185049025 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19005043 19005044 rs189756593 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19005047 19005048 rs148391080 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 729 chr21 19005049 19005050 rs548657929 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19005058 19005059 rs566935580 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 729 chr21 19005069 19005070 rs780060886 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19005070 19005071 rs747238317 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19005086 19005087 rs768806751 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19005087 19005088 rs142516531 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.204189 0.245767 unknown exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 578.000000,4430.000000, 0.115415,0.884585, maf-5-some-pop 729 chr21 19005147 19005148 rs73310220 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055854 0.157504 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 144.000000,4864.000000, 0.028754,0.971246, 729 chr21 19005160 19005161 rs571040065 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19005162 19005163 rs183880229 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19005178 19005179 rs770800981 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19005198 19005199 rs557166072 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19005209 19005210 rs774280171 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19005219 19005220 rs559830782 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 729 chr21 19005226 19005227 rs187310897 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 729 chr21 19005275 19005276 rs11909704 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.046775 0.145601 unknown exact 1 10 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 120.000000,4888.000000, 0.023962,0.976038, maf-5-some-pop 729 chr21 19005280 19005281 rs771599154 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19005295 19005296 rs554965461 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19005335 19005336 rs573295991 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 729 chr21 19005357 19005357 rs35101016 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 729 chr21 19005361 19005362 rs368497724 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 729 chr21 19005406 19005407 rs774913946 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 729 chr21 19005438 19005439 rs760345637 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19005440 19005441 rs866818723 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19005459 19005460 rs763868045 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19005496 19005497 rs754203826 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19005514 19005515 rs565361323 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19005526 19005527 rs563544147 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19005609 19005610 rs75883957 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 C,T, 4936.000000,72.000000, 0.985623,0.014377, maf-5-some-pop 730 chr21 19005631 19005632 rs765768357 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19005652 19005653 rs191707636 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19005653 19005654 rs563101865 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19005654 19005655 rs530291059 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19005680 19005681 rs28744612 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 unknown exact 1 5 1000GENOMES,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 103.000000,4905.000000, 0.020567,0.979433, maf-5-some-pop 730 chr21 19005694 19005695 rs145097668 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19005695 19005696 rs528058072 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19005716 19005717 rs573170653 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19005752 19005753 rs546226527 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19005769 19005770 rs571002499 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19005790 19005791 rs538728707 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19005826 19005827 rs146858147 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19005844 19005845 rs140599704 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19005861 19005862 rs536125049 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19005869 19005870 rs76642766 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19005869 19005870 rs532693050 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 MixedObserved 1 1000GENOMES, 2 -,A, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19005875 19005876 rs554882428 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19005921 19005922 rs78902636 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, maf-5-some-pop 730 chr21 19005941 19005942 rs780159400 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19005962 19005963 rs534174242 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19005963 19005964 rs559040716 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19005975 19005976 rs150495844 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012712 0.078836 unknown exact 1 SingleClassTriAllelic 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 3 C,G,T, 4976.000000,25.000000,7.000000, 0.993610,0.004992,0.001398, 730 chr21 19005989 19005990 rs183351061 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006006 19006007 rs781408287 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006021 19006022 rs562907097 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19006024 19006025 rs749016745 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006033 19006034 rs575001362 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19006082 19006083 rs770709004 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006092 19006093 rs796448564 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19006114 19006115 rs537400746 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19006153 19006154 rs778634950 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006217 19006218 rs138331926 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19006252 19006253 rs149128995 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4925.000000,83.000000, 0.983427,0.016573, 730 chr21 19006289 19006290 rs528019982 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19006298 19006299 rs771946337 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006322 19006323 rs574123968 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19006347 19006348 rs546139928 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19006353 19006354 rs564903523 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19006356 19006357 rs543129094 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19006358 19006359 rs2824404 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.489083 0.073071 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2134.000000,2874.000000, 0.426118,0.573882, maf-5-some-pop,maf-5-all-pops 730 chr21 19006361 19006362 rs550670370 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19006388 19006389 rs867802806 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19006390 19006391 rs564296807 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19006402 19006403 rs146405944 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4989.000000,19.000000, 0.996206,0.003794, 730 chr21 19006442 19006442 rs759755274 0 + - - -/G genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006453 19006454 rs139117924 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19006490 19006491 rs71319648 0 + C C C/T genomic single by-cluster,by-frequency 0.5 0 unknown exact 1 2 ENSEMBL,HUMANGENOME_JCVI, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 730 chr21 19006491 19006492 rs768362260 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006567 19006568 rs76204299 0 + G G C/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,ENSEMBL, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19006576 19006577 rs776423350 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006583 19006584 rs566768732 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19006589 19006590 rs761620100 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006596 19006597 rs534084088 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19006620 19006621 rs572965781 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19006631 19006632 rs558952255 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19006660 19006662 rs772112748 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 730 chr21 19006693 19006694 rs570840765 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19006745 19006746 rs375844784 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19006854 19006855 rs369111638 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19006858 19006859 rs750801530 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006860 19006861 rs537924678 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19006861 19006862 rs763484165 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006883 19006884 rs556601304 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19006896 19006897 rs187603088 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19006901 19006902 rs766823732 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006955 19006956 rs751601433 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19006974 19006975 rs74941447 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 730 chr21 19006996 19006997 rs553993804 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19007037 19007040 rs760796892 0 + TCT TCT -/TCT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19007052 19007053 rs781316614 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19007059 19007060 rs572361406 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19007065 19007066 rs373314468 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19007070 19007071 rs546102497 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19007081 19007082 rs564695784 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19007106 19007107 rs377592198 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19007107 19007108 rs147189764 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19007108 19007109 rs138872315 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19007132 19007133 rs76155589 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.041819 0.138422 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 107.000000,4901.000000, 0.021366,0.978634, maf-5-some-pop 730 chr21 19007137 19007138 rs548358823 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19007153 19007154 rs778741507 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19007167 19007168 rs566682743 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19007198 19007199 rs141261444 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 64.000000,4944.000000, 0.012780,0.987220, 730 chr21 19007210 19007211 rs191762864 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19007227 19007228 rs7280013 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.489201 0.072685 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2872.000000,2136.000000, 0.573482,0.426518, maf-5-some-pop,maf-5-all-pops 730 chr21 19007233 19007234 rs150787874 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19007257 19007258 rs556325637 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19007258 19007259 rs374196278 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19007305 19007306 rs111846864 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19007355 19007356 rs2824405 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 unknown exact 1 7 1000GENOMES,BGI,EVA_GENOME_DK,GMI,JMKIDD_LAB,PERLEGEN,SSMP, 2 A,G, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 730 chr21 19007386 19007387 rs371818660 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19007424 19007425 rs182812846 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19007440 19007441 rs572325399 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19007505 19007506 rs779866684 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19007525 19007526 rs532627608 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSIP, 0 730 chr21 19007527 19007528 rs560535419 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19007547 19007548 rs546012686 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19007551 19007552 rs558413249 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19007553 19007554 rs868252025 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19007559 19007560 rs576704314 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19007681 19007682 rs568565518 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19007722 19007723 rs544191398 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19007727 19007728 rs867045989 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19007754 19007755 rs562346732 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19007768 19007769 rs766387543 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19007781 19007782 rs62239955 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.267364 0.249396 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 796.000000,4212.000000, 0.158946,0.841054, maf-5-some-pop,maf-5-all-pops 730 chr21 19007858 19007859 rs541962639 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19007929 19007930 rs717461 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49423 0.053403 unknown exact 1 33 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2773.000000,2235.000000, 0.553714,0.446286, maf-5-some-pop,maf-5-all-pops,genotype-conflict 730 chr21 19007983 19007984 rs527460864 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19007987 19007988 rs956042 0 - T T A/C genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 unknown exact 1 6 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TSC-CSHL, 2 A,C, 4952.000000,56.000000, 0.988818,0.011182, maf-5-some-pop 730 chr21 19008025 19008027 rs764128821 0 + CA CA -/CA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008027 19008027 rs761031264 0 + - - -/CA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008029 19008030 rs570718094 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19008084 19008085 rs577008895 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19008160 19008161 rs531555666 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19008175 19008176 rs56347132 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.093777 0.195178 unknown exact 1 15 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4761.000000,247.000000, 0.950679,0.049321, maf-5-some-pop 730 chr21 19008213 19008214 rs773584856 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008283 19008284 rs568128654 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19008284 19008285 rs535526358 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19008328 19008329 rs547462217 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19008370 19008371 rs565867248 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19008380 19008381 rs763242499 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008406 19008407 rs75428630 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.071153 0.174681 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 185.000000,4823.000000, 0.036941,0.963059, maf-5-some-pop 730 chr21 19008417 19008418 rs558114331 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19008437 19008438 rs774717823 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008459 19008460 rs186629768 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19008467 19008468 rs376954631 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19008503 19008504 rs149871640 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 730 chr21 19008532 19008533 rs571862134 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19008534 19008535 rs767566134 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008555 19008556 rs553626942 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008575 19008576 rs556091516 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19008631 19008632 rs867632023 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19008638 19008639 rs552635364 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19008653 19008654 rs541876442 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19008670 19008671 rs755631838 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19008694 19008695 rs116008815 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19008722 19008723 rs573499806 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19008755 19008756 rs71319649 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.287606 0.247155 unknown exact 1 21 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 872.000000,4136.000000, 0.174121,0.825879, maf-5-some-pop,maf-5-all-pops 730 chr21 19008794 19008795 rs545977423 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19008824 19008825 rs2824406 0 + T T A/T genomic single by-submitter,by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 PERLEGEN, 1 T, 418.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 730 chr21 19008850 19008851 rs564132495 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19008897 19008898 rs758129065 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19008904 19008905 rs748851934 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19009015 19009016 rs531597055 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009053 19009054 rs559677578 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19009099 19009100 rs2824407 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.494315 0.053011 unknown exact 1 25 1000GENOMES,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2771.000000,2237.000000, 0.553315,0.446685, maf-5-some-pop 730 chr21 19009108 19009109 rs529231964 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19009114 19009115 rs112625180 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19009115 19009116 rs755014400 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009155 19009156 rs780816950 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009157 19009158 rs565832004 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009179 19009180 rs80045757 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19009195 19009196 rs747690679 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009204 19009205 rs146846373 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19009232 19009233 rs570171193 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009275 19009276 rs537723133 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009287 19009288 rs575782837 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009296 19009297 rs749038473 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009303 19009304 rs556073841 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19009323 19009324 rs113377401 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009383 19009384 rs528509624 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19009432 19009433 rs868704288 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19009435 19009435 rs780035263 0 + - - -/TT genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 730 chr21 19009436 19009436 rs376281922 0 + - - -/TT genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 730 chr21 19009455 19009455 rs35306336 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19009456 19009457 rs548578357 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19009492 19009493 rs780670779 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19009494 19009495 rs201526869 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,GMI,LUNTER, 0 730 chr21 19009499 19009500 rs568432811 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19009524 19009525 rs544736460 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19009537 19009538 rs866344593 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19009539 19009540 rs545592132 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19009551 19009552 rs564277091 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009583 19009584 rs142930962 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4975.000000,33.000000, 0.993411,0.006589, 730 chr21 19009611 19009612 rs768046743 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009616 19009617 rs543634288 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009657 19009658 rs561636159 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19009698 19009699 rs77292454 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 730 chr21 19009705 19009706 rs547340236 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.001596 0.028217 unknown exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 2.000000,2.000000,5004.000000, 0.000399,0.000399,0.999201, 730 chr21 19009731 19009732 rs533429509 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009739 19009740 rs112008255 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009740 19009741 rs760755656 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009774 19009775 rs570160492 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19009787 19009788 rs764307754 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009802 19009803 rs753998809 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009806 19009807 rs74926377 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.070783 0.174302 unknown exact 1 MixedObserved 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 184.000000,4824.000000, 0.036741,0.963259, maf-5-some-pop 730 chr21 19009806 19009809 rs386816692 0 + TGC TGC CGT/TGC genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 730 chr21 19009808 19009809 rs115721741 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.070783 0.174302 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4824.000000,184.000000, 0.963259,0.036741, maf-5-some-pop 730 chr21 19009828 19009829 rs567959319 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009833 19009834 rs368097642 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19009850 19009851 rs553764516 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009859 19009860 rs565559030 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009860 19009861 rs151108802 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 730 chr21 19009866 19009870 rs555522336 0 + TCCC TCCC -/TCCC genomic deletion by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 unknown range 1 2 1000GENOMES,SSIP, 2 -,TCCC, 171.000000,4837.000000, 0.034145,0.965855, maf-5-some-pop 730 chr21 19009885 19009886 rs370718970 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19009889 19009890 rs201581408 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19009891 19009892 rs11088643 0 + C C A/C/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 GMI,SC_SNP, 0 730 chr21 19009892 19009896 rs144095182 0 + CCTT CCTT -/CCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.046503 0.145221 unknown range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,CCTT, 119.000000,4877.000000, 0.023819,0.976181, maf-5-some-pop 730 chr21 19009892 19009892 rs755967260 0 + - - -/CCTT genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 730 chr21 19009896 19009896 rs553994097 0 + - - -/CCTT genomic insertion by-frequency,by-1000genomes 0.004897 0.049239 unknown between 1 1 1000GENOMES, 2 -,CCTT, 4877.000000,12.000000, 0.997545,0.002454, 730 chr21 19009912 19009913 rs192328906 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19009944 19009945 rs576125363 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009961 19009962 rs543209801 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009969 19009970 rs555145391 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19009971 19009972 rs573557176 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19009978 19009979 rs781298978 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19009990 19009991 rs540942382 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19009995 19009996 rs533156437 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19010017 19010018 rs868275242 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19010042 19010043 rs540091769 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010054 19010055 rs185575610 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19010074 19010075 rs533153004 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19010085 19010086 rs116831929 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 730 chr21 19010098 19010099 rs560352696 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19010128 19010129 rs755576415 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010150 19010151 rs190449917 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19010198 19010199 rs868005426 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19010202 19010203 rs748870119 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010213 19010214 rs117089476 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19010295 19010296 rs370097623 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19010308 19010309 rs141113117 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19010316 19010317 rs146333029 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19010342 19010343 rs746257238 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010346 19010346 rs199623652 0 + - - -/AT genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 730 chr21 19010347 19010348 rs568526805 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19010371 19010372 rs573731609 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 DuplicateObserved 1 SSIP, 0 730 chr21 19010371 19010371 rs368462266 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 DuplicateObserved 2 BILGI_BIOE,EVA_GENOME_DK, 0 730 chr21 19010391 19010392 rs531239667 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 730 chr21 19010396 19010397 rs528763271 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19010398 19010399 rs139077782 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19010412 19010413 rs575434624 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19010429 19010430 rs751517061 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19010444 19010445 rs374079730 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 730 chr21 19010537 19010538 rs193281050 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19010586 19010587 rs775978610 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010591 19010592 rs761308305 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010636 19010637 rs374297877 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19010638 19010639 rs768602087 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010639 19010640 rs370842164 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19010672 19010673 rs776817496 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010674 19010675 rs767364404 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19010690 19010691 rs551041292 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19010716 19010717 rs761909727 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19010718 19010719 rs557778504 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19010725 19010726 rs35241093 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19010732 19010733 rs569603389 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19010752 19010753 rs34352860 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.304937 0.243889 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 940.000000,4068.000000, 0.187700,0.812300, maf-5-some-pop,maf-5-all-pops 730 chr21 19010753 19010754 rs555108235 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19010813 19010814 rs573520928 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19010847 19010848 rs76597188 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19010861 19010861 rs539595532 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19010864 19010865 rs141640313 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19010875 19010876 rs577909802 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19010916 19010917 rs147049637 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19010917 19010918 rs138225321 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19010993 19010994 rs867424262 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19011032 19011033 rs149289197 0 + T T G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19011047 19011048 rs530870325 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19011072 19011073 rs543161204 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19011086 19011087 rs561393391 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19011102 19011103 rs753388036 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19011144 19011145 rs756861110 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19011149 19011150 rs184318812 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19011157 19011158 rs60142752 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19011163 19011164 rs866353789 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19011215 19011216 rs796339814 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19011216 19011217 rs752670664 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19011252 19011253 rs756126477 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19011258 19011259 rs547252889 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011262 19011263 rs1494935 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.338069 0.233974 unknown exact 1 26 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3929.000000,1079.000000, 0.784545,0.215455, maf-5-some-pop 730 chr21 19011264 19011265 rs532843175 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011278 19011279 rs17834079 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,PERLEGEN,SSMP, 2 C,T, 4935.000000,73.000000, 0.985423,0.014577, maf-5-some-pop 730 chr21 19011289 19011290 rs189091847 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19011295 19011296 rs778552472 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19011300 19011301 rs114049828 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 730 chr21 19011311 19011312 rs548646972 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011324 19011325 rs372951704 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19011411 19011412 rs567057767 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19011452 19011453 rs534500434 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19011459 19011460 rs144561003 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011461 19011462 rs181051137 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19011489 19011490 rs538936372 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19011492 19011493 rs148055417 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011531 19011532 rs575732543 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011541 19011542 rs748560938 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19011603 19011604 rs537543645 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19011617 19011618 rs543076454 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011630 19011631 rs2824408 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.338069 0.233974 unknown exact 1 26 1000GENOMES,ABI,AFFY,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 3929.000000,1079.000000, 0.784545,0.215455, maf-5-some-pop,maf-5-all-pops 730 chr21 19011633 19011634 rs573419460 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011645 19011646 rs540422811 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011667 19011668 rs565484253 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19011693 19011694 rs575685831 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19011729 19011730 rs117154123 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19011747 19011748 rs551276689 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011758 19011759 rs142697432 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19011764 19011765 rs530409900 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19011790 19011791 rs116658336 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 30.000000,4978.000000, 0.005990,0.994010, 730 chr21 19011797 19011798 rs776532725 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19011809 19011810 rs185475372 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19011817 19011818 rs113902667 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19011828 19011829 rs578039290 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19011875 19011876 rs534417276 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19011880 19011881 rs550752322 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19011910 19011911 rs771053776 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19011949 19011950 rs540375451 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19011953 19011954 rs1908440 0 - T T A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.408871 0.193029 unknown exact 1 18 1000GENOMES,ABI,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 3573.000000,1435.000000, 0.713458,0.286542, maf-5-some-pop,maf-5-all-pops 730 chr21 19011989 19011990 rs538532003 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19012038 19012039 rs79891273 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19012042 19012043 rs117198622 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 4935.000000,73.000000, 0.985423,0.014577, maf-5-some-pop 730 chr21 19012073 19012074 rs7510478 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.070042 0.173537 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4826.000000,182.000000, 0.963658,0.036342, maf-5-some-pop 730 chr21 19012115 19012116 rs145936976 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19012117 19012118 rs764117989 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012123 19012124 rs139837980 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19012145 19012146 rs753231536 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012156 19012157 rs2897189 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.070042 0.173537 unknown exact 1 10 1000GENOMES,ABI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 182.000000,4826.000000, 0.036342,0.963658, maf-5-some-pop 730 chr21 19012157 19012158 rs565308500 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19012158 19012159 rs577346130 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19012159 19012160 rs114451543 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19012167 19012168 rs369235369 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19012175 19012176 rs375285359 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19012248 19012249 rs750060827 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012260 19012261 rs766601724 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19012288 19012289 rs796533818 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19012290 19012291 rs796760373 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19012302 19012303 rs189335612 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19012309 19012310 rs143169783 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19012350 19012351 rs146202189 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 32.000000,4976.000000, 0.006390,0.993610, 730 chr21 19012369 19012370 rs758091092 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012382 19012383 rs531157090 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19012407 19012408 rs780362329 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012441 19012442 rs560562021 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19012476 19012477 rs528141658 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19012524 19012525 rs139104383 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 6 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 730 chr21 19012571 19012572 rs571285583 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19012614 19012615 rs532322518 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19012645 19012646 rs751371972 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012661 19012662 rs550545392 0 + T T A/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19012676 19012677 rs781727955 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012691 19012692 rs756665918 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19012697 19012698 rs748107879 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012713 19012714 rs180904950 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19012730 19012731 rs764825602 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19012785 19012786 rs207477754 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 730 chr21 19012793 19012794 rs7278827 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.37778 0.214877 unknown exact 1 18 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3742.000000,1266.000000, 0.747204,0.252796, maf-5-some-pop,maf-5-all-pops 730 chr21 19012826 19012827 rs868471015 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19012827 19012828 rs554967453 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19012836 19012837 rs375662467 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19012891 19012892 rs62239956 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 730 chr21 19012894 19012895 rs533967003 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19012898 19012899 rs377642270 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19012905 19012906 rs773477516 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012911 19012912 rs7279001 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.054348 0.155628 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4868.000000,140.000000, 0.972045,0.027955, maf-5-some-pop 730 chr21 19012933 19012934 rs577308650 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19012984 19012984 rs754724372 0 + - - -/C genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19012987 19012988 rs55712120 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 10 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,WEILL_CORNELL_DGM, 2 C,T, 4906.000000,102.000000, 0.979633,0.020367, maf-5-some-pop 730 chr21 19013007 19013008 rs556342691 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013049 19013050 rs775102239 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013114 19013115 rs760535867 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013134 19013135 rs574754199 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013142 19013143 rs542134618 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013182 19013183 rs748505708 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19013205 19013206 rs145370986 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19013236 19013237 rs560523327 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19013245 19013246 rs528069522 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19013266 19013267 rs539885778 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013289 19013290 rs59314614 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.089808 0.191933 unknown exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4772.000000,236.000000, 0.952875,0.047125, maf-5-some-pop 730 chr21 19013327 19013328 rs776623121 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013328 19013329 rs144970251 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WARNICH_LAB, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19013362 19013363 rs575262868 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 -,C, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19013392 19013393 rs186209674 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19013393 19013394 rs550752284 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013400 19013401 rs749544995 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19013415 19013416 rs566969643 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013447 19013448 rs113156906 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19013470 19013471 rs147957297 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013477 19013478 rs536082849 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013481 19013482 rs548482688 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013495 19013496 rs566805949 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013498 19013499 rs534189974 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013527 19013528 rs141504164 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19013530 19013531 rs570878925 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013532 19013533 rs758005254 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013578 19013579 rs766078341 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013585 19013586 rs147040925 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19013604 19013605 rs191903138 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013607 19013608 rs574715678 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013639 19013640 rs184245443 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013659 19013660 rs745987966 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19013668 19013669 rs373251288 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,TISHKOFF, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013697 19013698 rs572693666 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013708 19013709 rs540176910 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013714 19013715 rs564735639 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19013719 19013720 rs13047346 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19013725 19013726 rs576836144 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013726 19013727 rs781470062 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013745 19013746 rs569610040 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19013798 19013799 rs115518017 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19013802 19013803 rs538199321 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013803 19013804 rs558184492 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013806 19013807 rs376035091 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19013831 19013832 rs186065455 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19013832 19013833 rs560393694 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013837 19013838 rs527594248 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013843 19013844 rs552505781 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19013855 19013856 rs578024655 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19013875 19013876 rs190681264 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013882 19013883 rs749405159 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013893 19013894 rs537922055 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19013901 19013902 rs771223929 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19013916 19013917 rs546683550 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19013960 19013961 rs775638651 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19013971 19013972 rs116908144 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4986.000000,22.000000, 0.995607,0.004393, 730 chr21 19014051 19014052 rs746146111 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014110 19014111 rs182511873 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19014177 19014178 rs116745588 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19014178 19014179 rs77670270 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.070042 0.173537 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 182.000000,4826.000000, 0.036342,0.963658, maf-5-some-pop 730 chr21 19014182 19014183 rs187253737 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19014207 19014208 rs572656399 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19014213 19014214 rs573732213 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19014234 19014235 rs79706753 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 730 chr21 19014271 19014272 rs762463230 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014288 19014289 rs559041778 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19014305 19014306 rs575071376 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19014319 19014320 rs576741033 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19014327 19014327 rs397867916 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19014330 19014331 rs199850896 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19014366 19014367 rs192590988 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19014369 19014370 rs151056353 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19014388 19014389 rs751218687 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014443 19014444 rs182486714 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19014505 19014506 rs562435431 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19014516 19014518 rs554526095 0 + AC AC -/AC genomic deletion by-frequency,by-1000genomes 0.004383 0.04661 unknown range 1 1 1000GENOMES, 2 -,AC, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19014549 19014550 rs541999244 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19014556 19014557 rs560100390 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19014559 19014560 rs527548123 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19014565 19014566 rs759162443 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014570 19014571 rs713442 0 - G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.335559 0.234904 unknown exact 1 21 1000GENOMES,ABI,AFFY,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 3940.000000,1068.000000, 0.786741,0.213259, maf-5-some-pop,maf-5-all-pops 730 chr21 19014625 19014626 rs2405639 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.375797 0.216044 unknown exact 1 18 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1256.000000,3752.000000, 0.250799,0.749201, maf-5-some-pop,maf-5-all-pops 730 chr21 19014629 19014630 rs367612285 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19014636 19014637 rs564752255 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014650 19014651 rs753906598 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014662 19014663 rs141007378 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19014663 19014664 rs150345966 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19014667 19014668 rs373773556 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19014714 19014715 rs547935403 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19014751 19014752 rs757410566 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014780 19014781 rs375834109 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19014804 19014805 rs752374711 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014804 19014804 rs373862970 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 LUNTER, 0 730 chr21 19014805 19014805 rs759311581 0 + - - -/TTTT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014808 19014812 rs755721512 0 + TTTG TTTG -/TTTG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014810 19014812 rs796909305 0 + TG TG -/TG genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 730 chr21 19014811 19014812 rs1473802 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.472522 0.113946 unknown exact 1 MixedObserved 16 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,TSC-CSHL,WUGSC_SSAHASNP, 2 G,T, 3091.000000,1917.000000, 0.617212,0.382788, maf-5-some-pop,maf-5-all-pops 730 chr21 19014811 19014812 rs66652328 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 9 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 1 -, 2.000000, 1.000000, 730 chr21 19014811 19014811 rs202008833 0 + - - -/G/TG genomic insertion unknown 0 0 unknown between 1 1 DDI, 0 730 chr21 19014812 19014812 rs752584270 0 + - - -/TTTG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014815 19014816 rs540051776 0 + G G G/T genomic single by-frequency,by-1000genomes 0.031052 0.120672 unknown exact 1 1 1000GENOMES, 2 G,T, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 730 chr21 19014831 19014832 rs5019906 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.279461 0.248258 unknown exact 1 6 1000GENOMES,BL,EVA-GONL,EVA_GENOME_DK,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4167.000000,841.000000, 0.832069,0.167931, maf-5-some-pop,maf-5-all-pops 730 chr21 19014835 19014836 rs1473803 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.49949 0.015966 unknown exact 1 19 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2584.000000,2424.000000, 0.515974,0.484026, maf-5-some-pop,maf-5-all-pops 730 chr21 19014861 19014862 rs4404368 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.375797 0.216044 unknown exact 1 17 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1256.000000,3752.000000, 0.250799,0.749201, maf-5-some-pop,maf-5-all-pops 730 chr21 19014866 19014867 rs556198380 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19014897 19014898 rs746078367 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19014936 19014937 rs574544444 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19014940 19014941 rs138056483 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19014961 19014962 rs553904718 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19014965 19014966 rs116182023 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.071522 0.175059 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4822.000000,186.000000, 0.962859,0.037141, maf-5-some-pop 730 chr21 19014966 19014967 rs188050339 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19014978 19014979 rs564218222 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19014986 19014987 rs747958014 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015030 19015031 rs529454478 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19015045 19015046 rs115821999 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19015063 19015064 rs543368911 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015082 19015083 rs549605008 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19015099 19015100 rs773135635 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015149 19015150 rs561759826 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015181 19015182 rs529317871 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015190 19015191 rs547550303 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015220 19015221 rs566198984 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015223 19015224 rs533352739 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19015235 19015236 rs762943048 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015251 19015252 rs372084871 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19015282 19015283 rs770454557 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015324 19015324 rs749651726 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 730 chr21 19015328 19015329 rs193081316 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015336 19015337 rs200358665 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19015337 19015341 rs771480720 0 + AGAG AGAG -/AGAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015353 19015353 rs146529872 0 + - - -/AG genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 3 1000GENOMES,LUNTER,TISHKOFF, 0 730 chr21 19015371 19015372 rs759188655 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015391 19015392 rs570316774 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015429 19015430 rs537750419 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19015442 19015443 rs1494934 0 - A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.335788 0.23482 unknown exact 1 21 1000GENOMES,ABI,BCM_SSAHASNP,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 1069.000000,3939.000000, 0.213458,0.786542, maf-5-some-pop,maf-5-all-pops 730 chr21 19015443 19015444 rs113396704 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 -, 2.000000, 1.000000, 730 chr21 19015461 19015462 rs184737886 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19015506 19015507 rs202120067 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19015587 19015588 rs368725852 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19015608 19015609 rs553573715 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015612 19015613 rs572147985 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19015616 19015617 rs545679896 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19015660 19015661 rs557938418 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015663 19015664 rs575895484 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015668 19015669 rs779066156 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19015735 19015736 rs144836780 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015796 19015797 rs538559404 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015802 19015803 rs114057905 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.071522 0.175059 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 186.000000,4822.000000, 0.037141,0.962859, maf-5-some-pop 730 chr21 19015864 19015865 rs541454233 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19015876 19015877 rs559589234 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19015881 19015882 rs761129477 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015895 19015896 rs533470076 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19015973 19015974 rs764622229 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19015988 19015989 rs551642027 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19015989 19015990 rs570280351 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19016005 19016006 rs2824409 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.337614 0.234145 unknown exact 1 21 1000GENOMES,AFFY,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3931.000000,1077.000000, 0.784944,0.215056, maf-5-some-pop,maf-5-all-pops 730 chr21 19016013 19016014 rs757750676 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19016053 19016054 rs549678436 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016068 19016069 rs567995847 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016069 19016070 rs76905298 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 3 1000GENOMES,ILLUMINA,TISHKOFF, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19016099 19016100 rs775512065 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19016105 19016106 rs547420204 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19016144 19016145 rs565595228 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19016176 19016177 rs539532353 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016177 19016178 rs188748577 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19016202 19016203 rs114036832 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 730 chr21 19016242 19016243 rs779017483 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19016298 19016299 rs536879009 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016299 19016300 rs758594248 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19016339 19016340 rs555232930 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19016364 19016365 rs561521844 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19016368 19016369 rs541019715 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016401 19016402 rs55673115 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.338296 0.233889 unknown exact 1 17 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3928.000000,1080.000000, 0.784345,0.215655, maf-5-some-pop,maf-5-all-pops 730 chr21 19016459 19016460 rs77528554 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19016483 19016484 rs368985670 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 4972.000000,36.000000, 0.992812,0.007188, 730 chr21 19016493 19016494 rs138766826 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19016531 19016532 rs768531321 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19016539 19016540 rs531112136 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19016543 19016543 rs3074943 0 + - - -/AA genomic insertion by-cluster,by-frequency,by-1000genomes 0.499703 0.012177 unknown between 1 16 1000GENOMES,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, 2 -,AA, 2443.000000,2565.000000, 0.487819,0.512181, maf-5-some-pop,maf-5-all-pops 730 chr21 19016544 19016544 rs386394340 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19016545 19016545 rs397826898 0 + - - -/AA genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 5 ABI,BCMHGSC_JDW,HGSV,HUMANGENOME_JCVI,TSC-CSHL, 1 AA, 2.000000, 1.000000, 730 chr21 19016577 19016578 rs77723081 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19016590 19016591 rs561567020 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016616 19016617 rs528787541 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19016634 19016635 rs777601078 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19016654 19016655 rs769482893 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19016676 19016677 rs372019044 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19016684 19016685 rs565689275 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016700 19016701 rs865975337 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19016716 19016717 rs192175690 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016728 19016729 rs141499286 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19016762 19016763 rs569450942 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19016769 19016770 rs770807696 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19016779 19016780 rs547313984 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19016783 19016784 rs11911899 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.032984 0.124112 unknown exact 1 8 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4924.000000,84.000000, 0.983227,0.016773, maf-5-some-pop 730 chr21 19016810 19016811 rs183849244 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19016819 19016820 rs9647081 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SC_SNP, 0 730 chr21 19016824 19016825 rs868110936 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19016825 19016826 rs865936826 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19016835 19016836 rs566734873 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19016837 19016838 rs189497634 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19016846 19016847 rs758982773 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19016856 19016857 rs771693143 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19016879 19016880 rs534932785 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19016926 19016927 rs181524083 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19016932 19016933 rs765893175 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19016935 19016936 rs536001622 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19016944 19016945 rs144456500 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19016970 19016971 rs184346723 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19016992 19016993 rs563764387 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19016993 19016994 rs73195008 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 730 chr21 19017000 19017001 rs764534335 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017026 19017027 rs543199866 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19017027 19017028 rs2824410 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.229429 0.249152 unknown exact 1 21 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 662.000000,4346.000000, 0.132188,0.867812, maf-5-some-pop,genotype-conflict 730 chr21 19017038 19017039 rs148424995 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4941.000000,67.000000, 0.986621,0.013379, 730 chr21 19017082 19017083 rs141702128 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19017099 19017100 rs762339807 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017143 19017144 rs765681659 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017147 19017148 rs775729341 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017164 19017165 rs565472883 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19017176 19017177 rs532930225 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19017228 19017229 rs750459043 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017236 19017237 rs867374712 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19017244 19017245 rs551008477 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19017249 19017250 rs758411314 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017253 19017254 rs150665499 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19017269 19017270 rs868358697 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19017290 19017290 rs545993439 0 + - - -/CCCCCCCCACACACA genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,CCCCCCCCACACACA, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19017292 19017293 rs751766493 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017294 19017295 rs755234147 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017295 19017296 rs530530134 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19017296 19017297 rs757162085 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017350 19017351 rs552359221 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19017356 19017357 rs778724448 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017393 19017394 rs369702758 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19017447 19017448 rs745886993 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017452 19017453 rs567476527 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19017457 19017458 rs534545629 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19017468 19017469 rs553218589 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19017500 19017501 rs533114856 0 + T T A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 730 chr21 19017525 19017526 rs571493257 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19017557 19017558 rs373200350 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19017599 19017600 rs771474117 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017605 19017606 rs189629136 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19017696 19017700 rs747266662 0 + ACTT ACTT -/ACTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017746 19017747 rs775192661 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017782 19017783 rs746626089 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19017799 19017800 rs557397656 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19017825 19017826 rs768450040 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017833 19017834 rs575770791 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19017837 19017838 rs569022906 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19017935 19017936 rs777085196 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19017948 19017949 rs2824411 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.036835 0.130617 unknown exact 1 7 1000GENOMES,BGI,EVA_GENOME_DK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP, 2 A,G, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 730 chr21 19017989 19017990 rs762095497 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018038 19018039 rs554791920 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19018052 19018053 rs765707452 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018060 19018061 rs573367201 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19018070 19018071 rs540508811 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19018101 19018102 rs565220652 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018167 19018168 rs565567739 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19018204 19018205 rs532714546 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19018249 19018250 rs763572183 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018257 19018258 rs757634073 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19018282 19018283 rs181804881 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19018295 19018296 rs562978501 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19018360 19018361 rs530499408 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19018370 19018371 rs17834101 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.282369 0.247896 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4156.000000,852.000000, 0.829872,0.170128, maf-5-some-pop,maf-5-all-pops 730 chr21 19018457 19018458 rs567264537 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19018470 19018471 rs147948159 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19018487 19018488 rs750626945 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19018488 19018489 rs751670339 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018489 19018490 rs373579557 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19018492 19018493 rs758504976 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19018495 19018496 rs2824412 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.026399 0.111815 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,PERLEGEN,WEILL_CORNELL_DGM, 2 C,T, 4941.000000,67.000000, 0.986621,0.013379, maf-5-some-pop 730 chr21 19018505 19018506 rs73195010 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19018534 19018535 rs753603147 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018613 19018614 rs190529823 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19018617 19018618 rs569250194 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19018621 19018622 rs536663710 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19018629 19018630 rs555008783 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19018650 19018651 rs757001123 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018652 19018653 rs114284538 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19018708 19018709 rs549568258 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19018730 19018731 rs540818994 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19018747 19018748 rs181651859 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19018769 19018770 rs778829231 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018836 19018837 rs563090715 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19018862 19018863 rs577106908 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19018869 19018870 rs531976917 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018873 19018874 rs114933816 0 + T T G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19018945 19018946 rs758453801 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19018963 19018964 rs2187277 0 + C C C/G genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 C, 420.000000, 1.000000, 730 chr21 19018965 19018966 rs59301395 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 2 G,T, 38.000000,4970.000000, 0.007588,0.992412, 730 chr21 19018969 19018970 rs530389488 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19018970 19018971 rs867397307 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19018983 19018984 rs186227692 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19019002 19019003 rs560990062 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19019018 19019019 rs375966877 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19019073 19019074 rs76714379 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.077417 0.180873 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4806.000000,202.000000, 0.959665,0.040335, maf-5-some-pop 730 chr21 19019077 19019078 rs565107824 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19019082 19019083 rs768362288 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019098 19019099 rs191168274 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19019099 19019100 rs776151302 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019125 19019126 rs571954053 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19019128 19019129 rs11088644 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,SC_SNP,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19019138 19019139 rs536603812 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19019183 19019186 rs768692949 0 + ATT ATT -/ATT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 730 chr21 19019188 19019189 rs187456753 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19019203 19019204 rs796484176 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19019205 19019206 rs372774719 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 SSMP, 0 730 chr21 19019205 19019212 rs776707909 0 + TTTTTTA TTTTTTA -/TTTTTTA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019257 19019260 rs199964138 0 + TCT TCT -/TCT genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TCT, 24.000000,4984.000000, 0.004792,0.995208, 730 chr21 19019262 19019263 rs868472940 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19019279 19019280 rs376574704 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19019282 19019283 rs566947033 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19019298 19019299 rs554064070 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19019319 19019323 rs774138670 0 + CCCA CCCA -/CCCA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019323 19019324 rs534068023 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19019330 19019331 rs747899660 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019337 19019338 rs75422325 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19019342 19019343 rs56968107 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.077784 0.181223 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 203.000000,4805.000000, 0.040535,0.959465, maf-5-some-pop 730 chr21 19019364 19019365 rs538064126 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19019366 19019367 rs191035607 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19019377 19019378 rs574793353 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19019397 19019398 rs542603225 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19019475 19019476 rs796615963 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19019600 19019601 rs61564258 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4807.000000,201.000000, 0.959864,0.040136, maf-5-some-pop 730 chr21 19019605 19019606 rs771451037 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019610 19019611 rs576211304 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19019611 19019612 rs759617630 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019629 19019630 rs767653935 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019637 19019638 rs539977991 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19019641 19019642 rs79119949 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 4 1000GENOMES,EVA-GONL,JMKIDD_LAB,SSMP, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 730 chr21 19019651 19019652 rs769487599 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19019663 19019664 rs183136735 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19019688 19019689 rs550800995 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19019707 19019708 rs562770170 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19019733 19019734 rs201739914 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 -,T, 55.000000,4953.000000, 0.010982,0.989018, 730 chr21 19019740 19019741 rs570696725 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19019741 19019741 rs374299299 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 730 chr21 19019753 19019758 rs199674095 0 + AAAAT AAAAT -/AAAAT genomic deletion unknown 0 0 unknown range 1 1 GMI, 0 730 chr21 19019773 19019774 rs35551348 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19019779 19019780 rs548547433 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19019817 19019818 rs761010066 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19019852 19019853 rs116351798 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 730 chr21 19019984 19019985 rs187809118 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020013 19020014 rs534219406 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19020020 19020021 rs552355042 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19020059 19020060 rs750259157 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020070 19020071 rs13049806 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.302686 0.244385 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 931.000000,4077.000000, 0.185903,0.814097, maf-5-some-pop,maf-5-all-pops 730 chr21 19020072 19020073 rs114038777 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,C, 26.000000,4982.000000, 0.005192,0.994808, 730 chr21 19020106 19020107 rs569500434 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020113 19020114 rs754530710 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020117 19020118 rs114731417 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4972.000000,36.000000, 0.992812,0.007188, 730 chr21 19020134 19020135 rs192633299 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19020143 19020144 rs780811440 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020164 19020165 rs140216059 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19020180 19020181 rs2824413 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.153 0.230415 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 418.000000,4590.000000, 0.083467,0.916534, maf-5-some-pop 730 chr21 19020184 19020185 rs145339818 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19020259 19020260 rs552549126 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19020289 19020290 rs568963496 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19020291 19020292 rs769717506 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19020329 19020330 rs145214718 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19020377 19020377 rs34906727 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19020402 19020403 rs577061132 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19020435 19020436 rs544412624 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19020440 19020441 rs2824414 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.434543 0.168653 unknown exact 1 24 1000GENOMES,ABI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3410.000000,1598.000000, 0.680911,0.319089, maf-5-some-pop,maf-5-all-pops 730 chr21 19020497 19020498 rs868228893 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19020515 19020516 rs529980515 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19020523 19020524 rs749667132 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020524 19020525 rs572312352 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19020551 19020552 rs560412193 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19020556 19020557 rs6517783 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.363359 0.222822 unknown exact 1 24 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 1195.000000,3813.000000, 0.238618,0.761382, maf-5-some-pop,maf-5-all-pops 730 chr21 19020568 19020569 rs760095921 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020577 19020578 rs867773365 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19020634 19020635 rs539739885 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19020636 19020637 rs762182658 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19020641 19020642 rs552155412 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19020726 19020727 rs570607228 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19020745 19020746 rs772025852 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020797 19020798 rs184249430 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19020806 19020807 rs775682958 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020818 19020819 rs760772638 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020825 19020826 rs554568807 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19020826 19020827 rs764395808 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19020875 19020876 rs765543994 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19020882 19020883 rs567896928 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19020886 19020887 rs549945593 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19020905 19020906 rs188855534 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19020925 19020926 rs192686844 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 730 chr21 19020931 19020932 rs554132521 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19020937 19020938 rs574550331 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19020962 19020963 rs184930871 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021015 19021016 rs10854419 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.363568 0.222716 unknown exact 1 21 1000GENOMES,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1196.000000,3812.000000, 0.238818,0.761182, maf-5-some-pop,maf-5-all-pops 730 chr21 19021033 19021034 rs149162490 0 + A A A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 4971.000000,37.000000, 0.992612,0.007388, maf-5-some-pop 730 chr21 19021037 19021038 rs553023426 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19021064 19021065 rs544351601 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19021068 19021069 rs74802373 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 unknown exact 1 3 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB, 2 C,G, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 730 chr21 19021070 19021071 rs75536819 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 unknown exact 1 3 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB, 2 C,T, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 730 chr21 19021082 19021083 rs758663257 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19021088 19021089 rs542016965 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19021088 19021088 rs759420281 0 + - - -/GT genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021098 19021099 rs79615006 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19021119 19021120 rs527629109 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021146 19021147 rs752275235 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021174 19021175 rs78857328 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 730 chr21 19021182 19021183 rs755112583 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19021230 19021231 rs572784503 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19021250 19021251 rs143314374 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19021274 19021275 rs748056609 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19021282 19021283 rs549831573 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021315 19021316 rs749008537 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021342 19021343 rs771275276 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021350 19021351 rs779301215 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021411 19021412 rs568553674 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19021478 19021479 rs746347258 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021490 19021491 rs17001944 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.075947 0.179459 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 198.000000,4810.000000, 0.039537,0.960463, maf-5-some-pop 730 chr21 19021505 19021506 rs371942606 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19021516 19021517 rs566236326 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021570 19021571 rs188993497 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19021574 19021575 rs180953817 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021628 19021629 rs570434315 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021629 19021630 rs116460937 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 unknown exact 1 9 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4808.000000,200.000000, 0.960064,0.039936, maf-5-some-pop 730 chr21 19021645 19021646 rs368638721 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19021650 19021651 rs1494933 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.363568 0.222716 unknown exact 1 23 1000GENOMES,ABI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 1196.000000,3812.000000, 0.238818,0.761182, maf-5-some-pop,maf-5-all-pops 730 chr21 19021664 19021665 rs547447283 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021676 19021677 rs184776219 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19021690 19021691 rs200718771 0 + C C A/C/T genomic single by-1000genomes 0 0 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19021738 19021739 rs74386329 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 730 chr21 19021739 19021740 rs572228211 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19021749 19021750 rs766252368 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021761 19021762 rs774061218 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19021788 19021789 rs545719141 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021813 19021814 rs748061252 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021886 19021887 rs189406153 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19021913 19021914 rs182080802 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19021971 19021972 rs530071226 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19021981 19021982 rs752082497 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022014 19022015 rs544488388 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19022065 19022066 rs755647073 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022082 19022083 rs763572413 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022090 19022091 rs543417728 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19022097 19022098 rs186713167 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19022145 19022146 rs17761114 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.027176 0.113356 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,SSMP, 2 A,T, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 730 chr21 19022185 19022186 rs201373893 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19022187 19022188 rs199997954 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19022188 19022188 rs11432485 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 SingleAlleleFreq 12 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 1 T, 2.000000, 1.000000, 730 chr21 19022190 19022190 rs755852657 0 + - - -/G genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022192 19022193 rs67307178 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 MixedObserved 4 1000GENOMES,BCM-HGSC-SUB,GMI,HUMANGENOME_JCVI, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19022192 19022194 rs796977038 0 + AA AA AA/TAT genomic in-del unknown 0 0 unknown rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 730 chr21 19022192 19022192 rs35799775 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 3 ABI,GMI,HGSV, 0 730 chr21 19022193 19022194 rs211965 0 - A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.337386 0.23423 unknown exact 1 11 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,ENSEMBL,EVA_GENOME_DK,GMI,HGSV,JMKIDD_LAB,KWOK, 2 A,T, 3932.000000,1076.000000, 0.785144,0.214856, maf-5-some-pop,maf-5-all-pops 730 chr21 19022193 19022195 rs796678873 0 + AA AA AA/TAT genomic in-del unknown 0 0 unknown rangeInsertion 1 FlankMismatchGenomeLonger 1 TISHKOFF, 0 730 chr21 19022194 19022195 rs367766369 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19022194 19022194 rs573962345 0 + - - -/T genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 2 -,T, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19022195 19022196 rs370302075 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19022202 19022203 rs532843198 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19022230 19022231 rs533589530 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19022234 19022235 rs569864949 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19022253 19022254 rs151275439 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 730 chr21 19022283 19022284 rs537795054 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19022374 19022375 rs2824415 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.432797 0.170544 unknown exact 1 27 1000GENOMES,ABI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3422.000000,1586.000000, 0.683307,0.316693, maf-5-some-pop 730 chr21 19022411 19022412 rs568052641 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19022448 19022449 rs758768858 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022459 19022460 rs140967591 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19022470 19022471 rs372660121 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19022473 19022474 rs765813709 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19022480 19022481 rs553662692 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19022489 19022490 rs773692120 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19022506 19022507 rs571877647 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19022532 19022533 rs377114956 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19022533 19022534 rs531628966 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19022535 19022536 rs539263129 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19022560 19022561 rs780611410 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022561 19022562 rs370521226 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19022584 19022585 rs575978883 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19022610 19022611 rs115811810 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19022627 19022628 rs2824416 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.362313 0.223351 unknown exact 1 27 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 3818.000000,1190.000000, 0.762380,0.237620, maf-5-some-pop,maf-5-all-pops 730 chr21 19022641 19022642 rs776899211 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022644 19022645 rs116884905 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19022652 19022653 rs115530808 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 730 chr21 19022721 19022722 rs751845339 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19022730 19022731 rs559607874 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19022800 19022801 rs191910075 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19022829 19022830 rs2824417 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499866 0.008186 unknown exact 1 27 1000GENOMES,ABI,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2545.000000,2463.000000, 0.508187,0.491813, maf-5-some-pop,maf-5-all-pops 730 chr21 19022841 19022842 rs574462909 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022856 19022857 rs77859408 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19022878 19022881 rs753467554 0 + AGA AGA -/AGA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19022905 19022906 rs563968167 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19022928 19022929 rs531270466 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19022928 19022928 rs375997705 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 TISHKOFF, 0 730 chr21 19022981 19022982 rs549494296 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19023024 19023025 rs371063417 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19023049 19023050 rs527455021 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19023062 19023063 rs868791688 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19023064 19023065 rs535074031 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19023068 19023069 rs11347053 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.29227 0.246401 unknown exact 1 8 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,T, 871.000000,4030.000000, 0.177719,0.822281, maf-5-some-pop 730 chr21 19023068 19023068 rs763495343 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 730 chr21 19023069 19023069 rs372864001 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.05039 0.150519 unknown between 1 1 1000GENOMES, 2 -,T, 4030.000000,107.000000, 0.974136,0.025864, maf-5-some-pop 730 chr21 19023075 19023078 rs199558828 0 + TAA TAA -/TAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.036451 0.129988 unknown range 1 MixedObserved 3 1000GENOMES,EVA_GENOME_DK,LUNTER, 2 -,TAA, 93.000000,4915.000000, 0.018570,0.981430, maf-5-some-pop 730 chr21 19023075 19023076 rs397866491 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 2 ABI,HGSV, 0 730 chr21 19023095 19023096 rs759381198 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023099 19023100 rs200070713 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19023122 19023123 rs547572397 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19023169 19023170 rs557083263 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19023171 19023172 rs547432580 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19023202 19023203 rs565444810 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023259 19023260 rs767283553 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023266 19023267 rs539248902 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19023278 19023279 rs376022717 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19023292 19023293 rs557575376 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023303 19023304 rs752857989 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19023325 19023326 rs181090966 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004783 0.048702 unknown exact 1 SingleClassTriAllelic 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 3 A,C,T, 3.000000,4996.000000,9.000000, 0.000599,0.997604,0.001797, 730 chr21 19023344 19023345 rs80205767 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 unknown exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4917.000000,91.000000, 0.981829,0.018171, maf-5-some-pop 730 chr21 19023386 19023387 rs573944097 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023397 19023398 rs34345815 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.243347 0.249911 unknown exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4298.000000,710.000000, 0.858227,0.141773, maf-5-some-pop 730 chr21 19023427 19023428 rs553456773 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023432 19023433 rs578177829 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023465 19023466 rs186646104 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19023494 19023495 rs78945746 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 730 chr21 19023507 19023508 rs531206145 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19023560 19023561 rs17761138 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.032984 0.124112 unknown exact 1 9 1000GENOMES,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 730 chr21 19023591 19023592 rs17761144 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.309894 0.242719 unknown exact 1 22 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 960.000000,4048.000000, 0.191693,0.808307, maf-5-some-pop,maf-5-all-pops 730 chr21 19023598 19023599 rs77437333 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 197.000000,4811.000000, 0.039337,0.960663, maf-5-some-pop 730 chr21 19023628 19023629 rs547127034 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023641 19023642 rs746329549 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023641 19023642 rs758782538 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023671 19023672 rs141887043 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 30.000000,4978.000000, 0.005990,0.994010, 730 chr21 19023674 19023675 rs532899823 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19023675 19023676 rs747526247 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023722 19023723 rs796823736 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19023776 19023777 rs17761150 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.106987 0.205054 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 284.000000,4724.000000, 0.056709,0.943291, maf-5-some-pop 730 chr21 19023785 19023786 rs781380695 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023805 19023806 rs530036689 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023844 19023845 rs748259615 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023873 19023874 rs536869600 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19023874 19023875 rs555595634 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023880 19023881 rs567452250 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023882 19023882 rs780421943 0 + - - -/GCCT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023896 19023897 rs535014406 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19023951 19023952 rs770074975 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19023962 19023963 rs76514026 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.075947 0.179459 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 198.000000,4810.000000, 0.039537,0.960463, maf-5-some-pop 730 chr21 19023970 19023971 rs578132290 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19023971 19023972 rs75975858 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.062977 0.165899 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 730 chr21 19023973 19023973 rs551209639 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 unknown between 1 1 1000GENOMES, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19023978 19023979 rs569764547 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19024006 19024007 rs557510186 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19024010 19024011 rs775191969 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19024046 19024047 rs555365109 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19024049 19024050 rs760623691 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19024076 19024077 rs79665836 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 730 chr21 19024150 19024151 rs150294676 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19024194 19024195 rs137953513 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19024275 19024276 rs1494932 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497984 0.031685 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2345.000000,2663.000000, 0.468251,0.531749, maf-5-some-pop,maf-5-all-pops,genotype-conflict 730 chr21 19024283 19024284 rs558952947 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19024294 19024295 rs552050430 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19024306 19024307 rs149457800 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19024321 19024322 rs189571719 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19024336 19024337 rs774832293 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19024363 19024364 rs565851616 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19024413 19024414 rs143917837 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19024467 19024468 rs530684166 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19024475 19024476 rs548953237 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19024528 19024529 rs182140072 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19024541 19024542 rs140420300 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19024564 19024565 rs1389995 0 - A A G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.305934 0.243663 unknown exact 1 27 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 944.000000,4064.000000, 0.188498,0.811502, maf-5-some-pop,maf-5-all-pops 730 chr21 19024599 19024600 rs143183810 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19024601 19024602 rs747319710 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19024678 19024679 rs2824418 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.327914 0.237549 unknown exact 1 17 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3973.000000,1035.000000, 0.793331,0.206669, maf-5-some-pop 730 chr21 19024692 19024693 rs557446975 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19024695 19024696 rs186742095 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19024701 19024702 rs375588302 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19024742 19024743 rs13048208 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.309894 0.242719 unknown exact 1 22 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4048.000000,960.000000, 0.808307,0.191693, maf-5-some-pop,maf-5-all-pops 730 chr21 19024798 19024799 rs147518303 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19024799 19024800 rs762559767 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19024874 19024875 rs766733190 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19024913 19024914 rs573462987 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19024926 19024927 rs1015051 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.309401 0.24284 unknown exact 1 25 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 958.000000,4050.000000, 0.191294,0.808706, maf-5-some-pop 730 chr21 19024930 19024931 rs556999648 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19024933 19024934 rs374938194 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSMP, 0 730 chr21 19024960 19024961 rs565253807 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19024963 19024964 rs574948468 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19024974 19024975 rs544608648 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19024989 19024990 rs35843302 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 9 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,SSMP, 2 -,G, 59.000000,4949.000000, 0.011781,0.988219, 730 chr21 19025018 19025019 rs117393407 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19025072 19025073 rs530559602 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19025115 19025116 rs190890819 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19025119 19025120 rs560954099 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19025158 19025159 rs781765829 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19025169 19025170 rs140177469 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19025186 19025187 rs756250584 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19025235 19025236 rs778051008 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19025255 19025256 rs546878919 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19025271 19025272 rs547618795 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19025275 19025276 rs538986234 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19025302 19025302 rs148920639 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown between 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19025307 19025308 rs551039713 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19025314 19025315 rs569320917 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19025333 19025334 rs543912738 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19025368 19025369 rs58901913 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.326506 0.238006 unknown exact 1 16 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1029.000000,3979.000000, 0.205471,0.794529, maf-5-some-pop 730 chr21 19025385 19025386 rs779853846 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19025414 19025415 rs573325088 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19025415 19025416 rs534134138 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19025529 19025530 rs183433579 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19025531 19025532 rs746797414 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19025538 19025539 rs142996754 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19025553 19025554 rs541313398 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19025556 19025557 rs776542091 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19025569 19025570 rs8131717 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.188946 0.24243 unknown exact 1 12 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 529.000000,4479.000000, 0.105631,0.894369, maf-5-some-pop 730 chr21 19025584 19025585 rs563170045 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19025628 19025629 rs188221371 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19025658 19025659 rs79040889 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 31.000000,4977.000000, 0.006190,0.993810, maf-5-some-pop 730 chr21 19025698 19025699 rs193159301 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19025738 19025739 rs2824419 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.429837 0.173662 unknown exact 1 MixedObserved 20 1000GENOMES,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1566.000000,3442.000000, 0.312700,0.687300, maf-5-some-pop,maf-5-all-pops 730 chr21 19025738 19025740 rs573623651 0 + TA TA -/TA genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 MixedObserved 1 1000GENOMES, 2 -,TA, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19025741 19025744 rs559163238 0 + TAA TAA -/TAA genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 1 1000GENOMES, 2 -,TAA, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19025793 19025794 rs546817724 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19025811 19025812 rs772636020 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19025841 19025842 rs569980950 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19025867 19025867 rs34227093 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19025876 19025877 rs565173177 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19025898 19025899 rs77857791 0 + T T G/T genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19025898 19025899 rs748737621 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 EVA_GENOME_DK, 0 730 chr21 19025915 19025916 rs60117308 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19025949 19025950 rs532486245 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19025956 19025957 rs8132322 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.123105 0.215401 unknown exact 1 13 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 330.000000,4678.000000, 0.065895,0.934105, maf-5-some-pop 730 chr21 19026009 19026010 rs184641613 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19026021 19026022 rs536667672 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19026046 19026047 rs745703866 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19026053 19026054 rs563356322 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19026057 19026058 rs79962817 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 unknown exact 1 10 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PJP,SSMP, 2 C,T, 4923.000000,85.000000, 0.983027,0.016973, 730 chr21 19026058 19026059 rs11911917 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.421684 0.181726 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1513.000000,3495.000000, 0.302117,0.697883, maf-5-some-pop,maf-5-all-pops 730 chr21 19026073 19026074 rs534125163 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19026086 19026087 rs188328439 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19026089 19026090 rs746498834 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19026101 19026102 rs140625385 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 730 chr21 19026118 19026119 rs538173534 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19026140 19026141 rs556838066 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19026141 19026142 rs575097006 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19026168 19026169 rs768053484 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19026257 19026258 rs191892442 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19026258 19026259 rs183706156 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19026333 19026334 rs534706308 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19026336 19026337 rs2824420 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.448452 0.152042 unknown exact 1 27 1000GENOMES,ABI,BCM_SSAHASNP,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1700.000000,3308.000000, 0.339457,0.660543, maf-5-some-pop,maf-5-all-pops 730 chr21 19026362 19026363 rs528279894 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19026372 19026373 rs188442905 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19026454 19026455 rs756727380 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19026466 19026467 rs17761156 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.108402 0.206034 unknown exact 1 13 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4720.000000,288.000000, 0.942492,0.057508, maf-5-some-pop 730 chr21 19026467 19026468 rs192382788 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19026525 19026526 rs185695996 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,C, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19026558 19026559 rs189873324 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19026615 19026619 rs10562136 0 + TCTT TCTT -/TCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.326506 0.238006 unknown range 1 DuplicateObserved 13 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,TCTT, 1029.000000,3979.000000, 0.205471,0.794529, maf-5-some-pop 730 chr21 19026615 19026615 rs763055188 0 + - - -/TCTT genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 DDI, 0 730 chr21 19026618 19026622 rs34579174 0 + TTCT TTCT -/TTCT genomic deletion by-cluster 0 0 unknown range 1 SingleAlleleFreq 3 ABI,HUMANGENOME_JCVI,TISHKOFF, 1 -, 2.000000, 1.000000, 730 chr21 19026632 19026633 rs368084566 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19026666 19026667 rs529997297 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19026737 19026738 rs7277030 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.428635 0.174898 unknown exact 1 MixedObserved 22 1000GENOMES,ABI,BCM_SSAHASNP,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1558.000000,3450.000000, 0.311102,0.688898, maf-5-some-pop,maf-5-all-pops 730 chr21 19026737 19026738 rs759422646 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19026742 19026743 rs867009311 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19026778 19026779 rs143359059 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19026806 19026807 rs779012658 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19026810 19026811 rs146738048 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19026837 19026838 rs754750673 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19026850 19026851 rs79866787 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19026879 19026880 rs570683287 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19026885 19026886 rs781010623 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19026932 19026933 rs538064140 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19026940 19026941 rs17834180 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.109814 0.206997 unknown exact 1 13 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 292.000000,4716.000000, 0.058307,0.941693, maf-5-some-pop 730 chr21 19026955 19026956 rs568736809 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19026970 19026971 rs116230864 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 65.000000,4943.000000, 0.012979,0.987021, 730 chr21 19026984 19026985 rs140398777 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19026989 19026990 rs570412135 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19026993 19026994 rs182034905 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027008 19027009 rs772177156 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19027018 19027019 rs540305070 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19027039 19027040 rs56741804 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4811.000000,197.000000, 0.960663,0.039337, maf-5-some-pop 730 chr21 19027071 19027072 rs186906714 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027089 19027090 rs188450369 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19027153 19027154 rs539092215 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19027156 19027157 rs772728959 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19027171 19027172 rs143577396 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19027225 19027226 rs530045141 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19027234 19027235 rs148062327 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027254 19027255 rs116012838 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 730 chr21 19027257 19027258 rs140667881 0 + A A A/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19027258 19027259 rs552218760 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19027285 19027286 rs181343716 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19027294 19027295 rs770540732 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19027324 19027325 rs553030953 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19027368 19027369 rs773862547 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19027398 19027399 rs150094088 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027443 19027444 rs368475383 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19027454 19027454 rs371524777 0 + - - -/TAGA genomic insertion unknown 0 0 unknown between 1 1 LUNTER, 0 730 chr21 19027455 19027456 rs185054379 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19027457 19027458 rs374871469 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19027502 19027503 rs550394300 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027517 19027518 rs759313109 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19027562 19027563 rs568648130 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027584 19027585 rs536179303 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19027648 19027649 rs189760730 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027673 19027674 rs566442611 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027754 19027755 rs767963784 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19027816 19027817 rs138711633 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19027819 19027820 rs558642332 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19027861 19027862 rs183657606 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19027903 19027904 rs537636090 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19027932 19027933 rs556359699 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19027946 19027947 rs75023520 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 86.000000,4922.000000, 0.017173,0.982827, maf-5-some-pop 730 chr21 19028014 19028015 rs9983355 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.17138 0.237316 unknown exact 1 17 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 474.000000,4534.000000, 0.094649,0.905351, maf-5-some-pop 730 chr21 19028049 19028050 rs564447523 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19028091 19028092 rs560031809 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19028168 19028169 rs78211260 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 73.000000,4935.000000, 0.014577,0.985423, maf-5-some-pop 730 chr21 19028210 19028211 rs35002216 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.27893 0.24832 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 839.000000,4169.000000, 0.167532,0.832468, maf-5-some-pop,maf-5-all-pops 730 chr21 19028223 19028224 rs868493854 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19028269 19028270 rs753893084 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19028279 19028280 rs554760688 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19028295 19028296 rs574756280 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19028319 19028320 rs531871701 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19028329 19028330 rs376748086 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19028408 19028409 rs2824421 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.318174 0.240525 unknown exact 1 20 1000GENOMES,ABI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 994.000000,4014.000000, 0.198482,0.801518, maf-5-some-pop 730 chr21 19028430 19028431 rs758656813 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19028470 19028471 rs563666509 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19028476 19028477 rs529482140 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19028580 19028581 rs187569956 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19028616 19028617 rs142771516 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19028622 19028623 rs147508666 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19028646 19028647 rs747957903 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19028659 19028660 rs563531952 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSIP, 0 730 chr21 19028679 19028680 rs138509163 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19028765 19028766 rs149615641 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19028806 19028807 rs777576777 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19028824 19028825 rs537974795 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19028891 19028892 rs191449914 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19028896 19028897 rs574538956 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19028910 19028911 rs116633732 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4943.000000,65.000000, 0.987021,0.012979, 730 chr21 19028916 19028917 rs116057842 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19029036 19029037 rs572051932 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19029064 19029065 rs770325634 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19029071 19029072 rs2824422 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.081811 0.184966 unknown exact 1 10 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 214.000000,4794.000000, 0.042732,0.957268, maf-5-some-pop 730 chr21 19029081 19029082 rs9637033 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.109814 0.206997 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 292.000000,4716.000000, 0.058307,0.941693, maf-5-some-pop 730 chr21 19029120 19029121 rs576435602 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19029121 19029122 rs543866724 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19029125 19029126 rs144369383 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 730 chr21 19029135 19029136 rs2824423 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497984 0.031685 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2663.000000,2345.000000, 0.531749,0.468251, maf-5-some-pop,maf-5-all-pops 730 chr21 19029192 19029193 rs183604419 0 + T T G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19029200 19029201 rs577070736 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19029312 19029313 rs533702877 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19029365 19029366 rs552181087 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19029372 19029373 rs35019521 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 1 ABI, 1 T, 2.000000, 1.000000, 730 chr21 19029372 19029373 rs62239959 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BCMHGSC_JDW, 0 730 chr21 19029406 19029407 rs764581885 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19029448 19029449 rs200478413 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19029468 19029469 rs754405681 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19029474 19029475 rs528580852 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19029486 19029487 rs780816976 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19029500 19029501 rs570401509 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19029552 19029553 rs148801891 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 730 chr21 19029561 19029562 rs549807626 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19029576 19029577 rs762435858 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19029618 19029619 rs568065105 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19029627 19029628 rs535264388 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19029630 19029631 rs750535445 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19029643 19029644 rs553589169 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19029644 19029645 rs565621255 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19029665 19029666 rs187612472 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19029678 19029679 rs551427692 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19029682 19029683 rs557784986 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19029685 19029686 rs576347201 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19029767 19029768 rs142260469 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19029774 19029775 rs555830847 0 + T T G/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19029809 19029810 rs867280434 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19029825 19029826 rs370101196 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19029827 19029828 rs191747249 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19029832 19029833 rs796702217 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19029838 19029839 rs182709502 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19029839 19029840 rs560018053 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19029845 19029846 rs533589844 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19029880 19029881 rs545681126 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19029881 19029882 rs796411991 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19029899 19029900 rs563836249 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19030001 19030001 rs759763433 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_GENOME_DK,SSMP, 0 730 chr21 19030002 19030003 rs531288938 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19030002 19030002 rs150969265 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 MixedObserved 3 1000GENOMES,GMI,LUNTER, 0 730 chr21 19030010 19030011 rs549557609 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19030049 19030050 rs146312043 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19030064 19030065 rs746149878 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19030065 19030066 rs755847833 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030076 19030077 rs561881679 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19030081 19030082 rs777671660 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030093 19030094 rs753686610 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030177 19030178 rs528986206 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19030180 19030181 rs757247957 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030234 19030235 rs530761274 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030257 19030258 rs547165468 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19030269 19030270 rs139608741 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WARNICH_LAB,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19030293 19030295 rs570704820 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 730 chr21 19030305 19030306 rs532935964 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19030314 19030315 rs186605955 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19030322 19030323 rs557987430 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19030373 19030374 rs569900444 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19030377 19030378 rs546291016 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030395 19030396 rs537447199 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19030415 19030416 rs191507504 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19030430 19030431 rs574160652 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19030434 19030435 rs3216083 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.462253 0.132093 unknown exact 1 15 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 1816.000000,3192.000000, 0.362620,0.637380, maf-5-some-pop,maf-5-all-pops 730 chr21 19030440 19030441 rs75616216 0 + A A A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BGI, 0 730 chr21 19030440 19030441 rs397720356 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 4 ABI,HGSV,HUMANGENOME_JCVI,YUSUKE, 1 -, 2.000000, 1.000000, 730 chr21 19030447 19030448 rs779845087 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030454 19030455 rs535187810 0 + A A A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 EVA-GONL, 0 730 chr21 19030454 19030485 rs555129682 0 + ACTTTATATTCATACATATATAATTAGCTGT ACTTTATATTCATACATATATAATTAGCTGT lengthTooLong genomic in-del by-frequency,by-1000genomes 0.002393 0.03451 unknown range 1 MixedObserved,ObservedTooLong 1 1000GENOMES, 2 -,ACTTTATATTCATACATATATAATTAGCTGT, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19030468 19030469 rs114730834 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4943.000000,65.000000, 0.987021,0.012979, maf-5-some-pop 730 chr21 19030469 19030470 rs553520437 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19030478 19030479 rs2824424 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 unknown exact 1 6 1000GENOMES,EVA_GENOME_DK,GMI,JMKIDD_LAB,PERLEGEN,SSMP, 2 C,T, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 730 chr21 19030492 19030493 rs115764432 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19030538 19030539 rs564005851 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19030556 19030557 rs575885774 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19030557 19030558 rs746720394 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030559 19030560 rs375263617 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19030561 19030562 rs144341384 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19030579 19030580 rs555075763 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19030581 19030582 rs2253899 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.238171 0.24972 unknown exact 1 15 1000GENOMES,BL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 692.000000,4316.000000, 0.138179,0.861821, maf-5-some-pop,genotype-conflict 730 chr21 19030587 19030588 rs73892625 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 3 1000GENOMES,EVA_DECODE,ILLUMINA-UK, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19030589 19030590 rs762189694 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030626 19030627 rs2824425 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.027176 0.113356 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,PERLEGEN,SSMP, 2 G,T, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 730 chr21 19030648 19030649 rs146578019 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19030731 19030732 rs770358504 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030801 19030802 rs532959391 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19030816 19030817 rs185415223 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19030819 19030820 rs551330908 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19030843 19030844 rs569917693 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19030845 19030846 rs142587938 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,A, 37.000000,4971.000000, 0.007388,0.992612, 730 chr21 19030852 19030853 rs536973824 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19030863 19030864 rs773221017 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030905 19030906 rs763026677 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030912 19030913 rs77299874 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 133.000000,4875.000000, 0.026557,0.973442, maf-5-some-pop 730 chr21 19030961 19030962 rs751758214 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19030966 19030967 rs567631119 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19030983 19030984 rs140254047 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19031008 19031009 rs762606061 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19031010 19031011 rs759840934 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031114 19031115 rs867508942 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19031156 19031157 rs374119479 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19031158 19031159 rs568290744 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19031160 19031161 rs578177744 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19031170 19031171 rs2298400 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.250732 0.249999 unknown exact 1 20 1000GENOMES,AFFY,BCM_SSAHASNP,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,T, 4272.000000,736.000000, 0.853035,0.146965, maf-5-some-pop 730 chr21 19031177 19031178 rs557302857 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19031186 19031187 rs754651432 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19031219 19031220 rs757082641 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031235 19031236 rs190565097 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19031280 19031281 rs542922424 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19031291 19031292 rs76001244 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 730 chr21 19031319 19031320 rs193125278 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19031354 19031355 rs185259948 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19031379 19031380 rs11700793 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.276267 0.248616 unknown exact 1 23 1000GENOMES,AFFY,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4179.000000,829.000000, 0.834465,0.165535, maf-5-some-pop,genotype-conflict 730 chr21 19031384 19031385 rs577477376 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19031396 19031397 rs2298401 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.062977 0.165899 unknown exact 1 9 1000GENOMES,EVA_GENOME_DK,EVA_SVP,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,YUSUKE, 2 A,C, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 730 chr21 19031400 19031401 rs11700794 0 + C C C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.276267 0.248616 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 21 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4179.000000,829.000000, 0.834465,0.165535, maf-5-some-pop 730 chr21 19031416 19031417 rs2298402 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 unknown exact 1 6 1000GENOMES,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP,YUSUKE, 2 C,T, 4849.000000,159.000000, 0.968251,0.031749, maf-5-some-pop 730 chr21 19031431 19031432 rs189107439 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19031457 19031458 rs10222058 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 730 chr21 19031487 19031488 rs779763622 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031562 19031563 rs548967705 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19031566 19031567 rs181062660 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19031572 19031573 rs185489943 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19031579 19031580 rs547057065 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19031587 19031588 rs7276332 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 4 1000GENOMES,BCM_SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19031603 19031604 rs768389244 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031604 19031605 rs188048492 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19031679 19031680 rs557448189 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19031701 19031702 rs755686776 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19031712 19031713 rs781365836 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031726 19031727 rs180973384 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19031741 19031742 rs748560519 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031759 19031760 rs536857757 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19031792 19031793 rs770220699 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031799 19031800 rs376580848 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19031824 19031825 rs746411941 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19031828 19031829 rs554840295 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19031856 19031857 rs773705946 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19031858 19031859 rs573243164 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19031866 19031867 rs540609676 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19031875 19031876 rs149934914 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19031897 19031898 rs577590597 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19031910 19031911 rs544745442 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19031916 19031917 rs553115378 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19031930 19031931 rs563408516 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19031967 19031967 rs36002280 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19031993 19031994 rs530571627 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032073 19032073 rs35915571 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19032125 19032126 rs763499614 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032137 19032138 rs770966585 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032166 19032167 rs76458197 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 730 chr21 19032173 19032174 rs759626915 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032179 19032180 rs561154661 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032196 19032197 rs573254543 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19032218 19032219 rs528426281 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032222 19032223 rs546994009 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19032246 19032247 rs12626837 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.142609 0.225759 unknown exact 1 17 1000GENOMES,ABI,AFFY,BUSHMAN,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4621.000000,387.000000, 0.922724,0.077276, maf-5-some-pop 730 chr21 19032266 19032267 rs532553442 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032274 19032275 rs71319650 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.270351 0.24917 unknown exact 1 17 1000GENOMES,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4201.000000,807.000000, 0.838858,0.161142, maf-5-some-pop 730 chr21 19032276 19032277 rs113625948 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 2 1000GENOMES,BUSHMAN, 2 G,T, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19032301 19032301 rs35974004 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19032303 19032304 rs536438606 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032310 19032311 rs554776995 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19032395 19032396 rs559408991 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19032434 19032435 rs528050254 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19032503 19032504 rs566802998 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032544 19032545 rs186096103 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032547 19032547 rs760477077 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032583 19032584 rs765177959 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032585 19032586 rs750368595 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032591 19032592 rs369512494 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19032628 19032629 rs577527569 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19032634 19032635 rs758453780 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032697 19032698 rs79288096 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 65.000000,4943.000000, 0.012979,0.987021, maf-5-some-pop 730 chr21 19032705 19032706 rs78311222 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032745 19032746 rs192199341 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032779 19032780 rs542825198 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032832 19032833 rs544460899 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19032855 19032856 rs564369103 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19032856 19032857 rs373678760 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19032874 19032875 rs561090872 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19032878 19032879 rs1389994 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463451 0.130149 unknown exact 1 32 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1827.000000,3181.000000, 0.364816,0.635184, maf-5-some-pop,maf-5-all-pops 730 chr21 19032907 19032908 rs753520496 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032911 19032911 rs556658047 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.002393 0.03451 unknown between 1 1 1000GENOMES, 2 -,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19032941 19032942 rs780903526 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19032945 19032946 rs2824426 0 + G G G/T genomic single by-frequency,by-submitter 0.444444 0.157135 unknown exact 1 1 PERLEGEN, 2 G,T, 6.000000,3.000000, 0.666667,0.333333, 730 chr21 19032948 19032949 rs1389993 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.480853 0.095952 unknown exact 1 MixedObserved 24 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2994.000000,2014.000000, 0.597843,0.402157, maf-5-some-pop,maf-5-all-pops 730 chr21 19032948 19032951 rs386816693 0 + GTG GTG CTA/GTG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19032950 19032951 rs1389992 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.480775 0.09614 unknown exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2995.000000,2013.000000, 0.598043,0.401957, maf-5-some-pop 730 chr21 19032971 19032972 rs184086857 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19032994 19032995 rs35497715 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19033009 19033010 rs550995257 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033122 19033123 rs528883699 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033152 19033153 rs771449090 0 + C C C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033152 19033152 rs35483202 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 730 chr21 19033157 19033158 rs569237239 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033196 19033197 rs530240714 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19033199 19033202 rs756832523 0 + CTT CTT -/CTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033223 19033224 rs548301309 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19033232 19033233 rs867900784 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19033270 19033271 rs566693235 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19033311 19033312 rs112122389 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 730 chr21 19033316 19033317 rs774236395 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033327 19033328 rs867271188 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19033328 19033329 rs745962149 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033334 19033337 rs762916787 0 + ACT ACT -/ACT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 730 chr21 19033348 19033349 rs548663425 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19033380 19033381 rs17756388 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.06223 0.165053 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 15 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 161.000000,4847.000000, 0.032149,0.967851, maf-5-some-pop 730 chr21 19033383 19033384 rs775764525 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033399 19033400 rs537206794 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033406 19033407 rs557275979 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19033440 19033441 rs571168936 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19033444 19033445 rs538245286 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19033467 19033468 rs759466757 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19033474 19033475 rs866316446 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19033478 19033479 rs556948636 0 + T T G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19033493 19033494 rs765098202 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033496 19033497 rs575225788 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033568 19033569 rs536325463 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19033586 19033587 rs546459506 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19033591 19033592 rs773176604 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033596 19033597 rs185932974 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19033602 19033603 rs573033191 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19033612 19033613 rs190648248 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033627 19033628 rs143019713 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 730 chr21 19033648 19033649 rs78734304 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.144969 0.226867 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 394.000000,4614.000000, 0.078674,0.921326, maf-5-some-pop 730 chr21 19033684 19033685 rs113027600 0 + C C A/C genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 2 1000GENOMES,BUSHMAN, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19033698 19033698 rs752409029 0 + - - -/AAGAT genomic insertion by-cluster 0 0 unknown between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033710 19033711 rs370691180 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033712 19033713 rs530055146 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033757 19033758 rs548239041 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033761 19033762 rs367987752 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19033766 19033767 rs750969771 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033770 19033771 rs527878271 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033771 19033772 rs141229197 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 730 chr21 19033772 19033773 rs57505944 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.275464 0.2487 unknown exact 1 16 1000GENOMES,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 826.000000,4182.000000, 0.164936,0.835064, maf-5-some-pop 730 chr21 19033808 19033809 rs766995168 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19033816 19033817 rs186598998 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 730 chr21 19033827 19033828 rs538556110 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19033858 19033859 rs866556754 0 + G G C/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 730 chr21 19033858 19033858 rs796997403 0 + - - -/GCGT genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 HAMMER_LAB, 0 730 chr21 19033871 19033872 rs7277966 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 4 1000GENOMES,BCM_SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, 730 chr21 19033931 19033932 rs559759768 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 0 730 chr21 19033940 19033941 rs568801550 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19033954 19033955 rs536262162 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19033976 19033977 rs182567695 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19033999 19034000 rs7278677 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 4 1000GENOMES,BCM_SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19034069 19034070 rs555889957 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19034083 19034084 rs558745268 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19034085 19034086 rs368520454 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19034094 19034095 rs34608341 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.318174 0.240525 unknown exact 1 19 1000GENOMES,ABI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4014.000000,994.000000, 0.801518,0.198482, maf-5-some-pop 730 chr21 19034158 19034159 rs747370652 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19034223 19034224 rs150673923 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19034227 19034228 rs528803582 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSIP, 0 730 chr21 19034258 19034259 rs138934906 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.070413 0.17392 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4825.000000,183.000000, 0.963458,0.036541, maf-5-some-pop 730 chr21 19034307 19034308 rs574447674 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19034320 19034321 rs541869534 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19034362 19034363 rs749664938 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19034385 19034386 rs868038461 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19034534 19034535 rs757692296 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19034608 19034609 rs560202912 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19034611 19034612 rs149441110 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19034612 19034613 rs146300102 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19034654 19034654 rs552924279 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,C, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19034658 19034659 rs139464470 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4995.000000,13.000000, 0.997404,0.002596, 730 chr21 19034659 19034660 rs187230551 0 + C C A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 SingleClassQuadAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,JMKIDD_LAB, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, rs-cluster-nonoverlapping-alleles 730 chr21 19034661 19034662 rs573098464 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19034695 19034696 rs550408725 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19034811 19034812 rs144207317 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4943.000000,65.000000, 0.987021,0.012979, 730 chr21 19034838 19034839 rs146080953 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19034839 19034840 rs781445563 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19034842 19034843 rs548243605 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19034843 19034844 rs548242036 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_DECODE,SSIP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19034846 19034847 rs4818364 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.492679 0.060059 unknown exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2807.000000,2201.000000, 0.560503,0.439497, maf-5-some-pop,maf-5-all-pops 730 chr21 19034855 19034856 rs111491414 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19034857 19034858 rs562072627 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19034877 19034878 rs7281959 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.08108 0.184299 unknown exact 1 6 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 212.000000,4796.000000, 0.042332,0.957668, maf-5-some-pop 730 chr21 19034881 19034882 rs111600525 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4912.000000,96.000000, 0.980831,0.019169, maf-5-some-pop 730 chr21 19034905 19034906 rs528848053 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19034906 19034907 rs773319177 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19034910 19034911 rs4818365 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.491525 0.064542 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2830.000000,2178.000000, 0.565096,0.434904, maf-5-some-pop,maf-5-all-pops 730 chr21 19034914 19034915 rs376754428 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19034915 19034916 rs182736764 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 730 chr21 19034924 19034925 rs541804149 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19034959 19034960 rs867429541 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19034966 19034967 rs187757992 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19034973 19034974 rs562197037 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 730 chr21 19034976 19034977 rs572128090 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19034978 19034979 rs9977464 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.098443 0.198823 unknown exact 1 7 1000GENOMES,EVA-GONL,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 260.000000,4748.000000, 0.051917,0.948083, maf-5-some-pop 730 chr21 19034999 19035000 rs371866650 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19035003 19035004 rs376479596 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19035021 19035021 rs545288912 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.005972 0.054319 unknown between 1 1 1000GENOMES, 2 -,A, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19035028 19035029 rs531885781 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 MixedObserved 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19035028 19035030 rs796776915 0 + TG TG CA/TG genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 730 chr21 19035029 19035030 rs543703184 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19035032 19035033 rs562354069 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19035034 19035035 rs866751904 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19035058 19035059 rs529643764 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19035059 19035060 rs548131428 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035061 19035062 rs570941801 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19035064 19035065 rs566442327 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19035072 19035073 rs527301237 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035082 19035083 rs374355328 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19035097 19035098 rs552206816 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19035105 19035106 rs201368267 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19035109 19035110 rs370354114 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19035110 19035110 rs71333568 0 + - - -/A/AAA genomic insertion by-cluster 0.5 0 unknown between 1 InconsistentAlleles 2 HUMANGENOME_JCVI,SSIP, 2 -,AAA, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19035112 19035113 rs76659512 0 + A A A/C genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 730 chr21 19035129 19035130 rs75689116 0 + A A A/G genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 730 chr21 19035132 19035133 rs200799792 0 - G G C/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 1 ILLUMINA, 0 730 chr21 19035132 19035132 rs3991388 0 + - - -/AAA genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 TSC-CSHL, 0 730 chr21 19035143 19035144 rs570502333 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19035161 19035162 rs538037907 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035185 19035186 rs2824427 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.06036 0.1629 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,PERLEGEN,SSMP, 2 C,G, 156.000000,4852.000000, 0.031150,0.968850, maf-5-some-pop 730 chr21 19035194 19035195 rs144566444 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 730 chr21 19035210 19035211 rs28481981 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19035215 19035216 rs772165435 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035245 19035246 rs553663420 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19035514 19035515 rs774157047 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19035539 19035540 rs572067986 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19035545 19035546 rs193241615 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19035560 19035561 rs775476753 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035563 19035564 rs747198390 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035601 19035602 rs185600001 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19035627 19035628 rs187222637 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19035631 19035632 rs769025772 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035687 19035688 rs113204155 0 + C C C/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19035703 19035704 rs773086701 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035706 19035707 rs762847163 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035742 19035743 rs543975643 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19035746 19035747 rs73310223 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4865.000000,143.000000, 0.971446,0.028554, maf-5-some-pop 730 chr21 19035752 19035753 rs529527266 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035776 19035777 rs774333546 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035790 19035791 rs546975970 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19035829 19035830 rs192192513 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19035843 19035844 rs560095157 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035870 19035870 rs11384207 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 15 1000GENOMES,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19035871 19035871 rs386394341 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19035872 19035873 rs78633272 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 3 BGI,GMI,TISHKOFF, 0 730 chr21 19035872 19035872 rs386394342 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 2 HUMANGENOME_JCVI,PJP, 1 A, 2.000000, 1.000000, 730 chr21 19035891 19035892 rs564524514 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19035896 19035897 rs527281191 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035898 19035899 rs375498158 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19035901 19035902 rs531013901 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035902 19035903 rs551140084 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19035913 19035914 rs112331909 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19035923 19035924 rs79962981 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19035951 19035952 rs531331826 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19035963 19035964 rs767013081 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19035965 19035966 rs549485416 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19035973 19035974 rs113144592 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19036008 19036009 rs767445802 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19036015 19036016 rs550235748 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19036018 19036019 rs535275144 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036029 19036030 rs77285978 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 56.000000,4952.000000, 0.011182,0.988818, maf-5-some-pop 730 chr21 19036033 19036034 rs535810866 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036105 19036106 rs760261191 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036142 19036143 rs763739951 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036143 19036144 rs719500 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49655 0.04139 unknown exact 1 31 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2712.000000,2296.000000, 0.541534,0.458466, maf-5-some-pop 730 chr21 19036164 19036165 rs760376690 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19036189 19036190 rs76894118 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 156.000000,4852.000000, 0.031150,0.968850, maf-5-some-pop 730 chr21 19036191 19036191 rs34743596 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19036214 19036215 rs557895627 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036298 19036299 rs369794523 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WARNICH_LAB, 0 730 chr21 19036320 19036321 rs757602486 0 + G G A/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036324 19036325 rs576407754 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19036330 19036331 rs76149562 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP, 2 G,T, 4852.000000,156.000000, 0.968850,0.031150, maf-5-some-pop 730 chr21 19036354 19036355 rs183863226 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19036382 19036383 rs566308103 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19036441 19036442 rs576874537 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 ILLUMINA, 0 730 chr21 19036450 19036451 rs188488063 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036499 19036500 rs541694922 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19036546 19036547 rs560080567 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036562 19036563 rs575783126 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19036587 19036588 rs578214066 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19036632 19036633 rs545759435 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19036654 19036655 rs563897448 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19036692 19036693 rs181390394 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036700 19036701 rs747442548 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036702 19036703 rs11910541 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.206642 0.246211 unknown exact 1 18 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 586.000000,4422.000000, 0.117013,0.882987, maf-5-some-pop 730 chr21 19036711 19036712 rs758864455 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036741 19036742 rs112715868 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19036756 19036757 rs113925870 0 + T T C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19036777 19036778 rs529050556 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19036781 19036782 rs547228744 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036802 19036803 rs146935593 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19036819 19036820 rs184459073 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19036822 19036823 rs747102237 0 + C C A/C/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036830 19036831 rs551671822 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19036838 19036839 rs569910627 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036845 19036846 rs781560979 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036848 19036849 rs537445897 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036852 19036853 rs147581739 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19036870 19036871 rs781439047 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036919 19036920 rs11910600 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.031825 0.122064 unknown exact 1 9 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 730 chr21 19036972 19036973 rs774054737 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19036998 19036999 rs113222564 0 + G G -/G genomic deletion unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19037005 19037006 rs759467383 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19037096 19037097 rs189336991 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19037098 19037099 rs182208033 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19037114 19037115 rs771915509 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19037145 19037146 rs374305822 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19037160 19037161 rs186502867 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19037209 19037210 rs868484856 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19037214 19037215 rs372993985 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19037219 19037220 rs578139311 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19037248 19037249 rs8129553 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.268995 0.249277 unknown exact 1 15 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 802.000000,4206.000000, 0.160144,0.839856, maf-5-some-pop 730 chr21 19037272 19037273 rs190499235 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19037282 19037283 rs371070976 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19037308 19037309 rs575899282 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19037309 19037310 rs115117329 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 730 chr21 19037323 19037324 rs570635902 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSIP, 0 730 chr21 19037326 19037327 rs781504461 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19037334 19037335 rs74778051 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 730 chr21 19037340 19037341 rs181541744 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19037342 19037343 rs547167326 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19037346 19037347 rs34537709 0 + G G G/T genomic single unknown 0.277778 0.248452 unknown exact 1 2 ABI,ENSEMBL, 2 G,T, 5.000000,1.000000, 0.833333,0.166667, 730 chr21 19037364 19037365 rs559250476 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19037396 19037397 rs77366740 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19037416 19037417 rs577756736 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19037433 19037434 rs540460969 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19037520 19037521 rs763650065 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19037525 19037526 rs569983559 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19037532 19037533 rs186195283 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19037546 19037547 rs149067942 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19037577 19037578 rs539680952 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19037601 19037602 rs191398579 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19037609 19037610 rs573601352 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19037642 19037643 rs143335548 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19037661 19037662 rs765600667 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19037691 19037692 rs562160291 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19037704 19037705 rs148362364 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19037760 19037761 rs553445770 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19037772 19037773 rs780433049 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19037796 19037797 rs183161758 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19037825 19037826 rs141521943 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19037880 19037883 rs530738403 0 + ACC ACC -/ACC genomic deletion by-frequency,by-1000genomes 0.003986 0.044463 unknown range 1 1 1000GENOMES, 2 -,ACC, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19037892 19037893 rs368269102 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 730 chr21 19037966 19037967 rs145857042 0 + G G C/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 C,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19037995 19037996 rs755098051 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038018 19038019 rs575572602 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19038033 19038034 rs371934544 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19038086 19038087 rs11702528 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.20511 0.245937 unknown exact 1 22 1000GENOMES,AFFY,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 581.000000,4427.000000, 0.116014,0.883986, maf-5-some-pop,genotype-conflict 730 chr21 19038138 19038139 rs187726704 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19038143 19038144 rs138487322 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19038144 19038145 rs778711122 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038149 19038150 rs745653153 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038162 19038163 rs142734619 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19038169 19038170 rs190805841 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19038172 19038173 rs146068265 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 730 chr21 19038183 19038184 rs117298694 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06856 0.171987 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4830.000000,178.000000, 0.964457,0.035543, maf-5-some-pop 730 chr21 19038198 19038199 rs563423298 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19038209 19038210 rs546791209 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19038214 19038215 rs115706573 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4982.000000,26.000000, 0.994808,0.005192, 730 chr21 19038221 19038222 rs76396093 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 730 chr21 19038230 19038231 rs746994769 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038235 19038236 rs764677795 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19038249 19038250 rs567628787 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19038278 19038279 rs768118589 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038298 19038299 rs139761386 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19038319 19038320 rs112351218 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19038330 19038331 rs749973422 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19038331 19038332 rs760012133 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19038355 19038356 rs768069407 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19038362 19038363 rs370151239 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19038375 19038376 rs566629413 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19038386 19038387 rs867514244 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19038387 19038388 rs546728416 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19038388 19038389 rs571756561 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19038389 19038390 rs369087618 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19038441 19038442 rs149388182 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,C, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19038451 19038452 rs557564495 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19038452 19038453 rs187826467 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 730 chr21 19038454 19038455 rs761481844 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038486 19038487 rs536518906 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19038503 19038504 rs112725933 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19038517 19038518 rs535746192 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19038545 19038546 rs573255721 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19038559 19038560 rs547064943 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.282369 0.247896 unknown exact 1 MixedObserved 1 1000GENOMES, 2 -,A, 852.000000,4156.000000, 0.170128,0.829872, maf-5-some-pop,maf-5-all-pops 730 chr21 19038559 19038561 rs796279164 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 HAMMER_LAB, 0 730 chr21 19038559 19038559 rs765936890 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 SSMP, 0 730 chr21 19038560 19038560 rs71333569 0 + - - -/A genomic insertion by-cluster 0.5 0 unknown between 1 2 HUMANGENOME_JCVI,PJP, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19038603 19038604 rs567125712 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19038615 19038616 rs552786366 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19038657 19038658 rs192645699 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19038732 19038733 rs773562330 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038752 19038753 rs17001992 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,TISHKOFF, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 730 chr21 19038778 19038779 rs563448267 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19038828 19038829 rs555022731 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19038844 19038845 rs144036076 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19038854 19038855 rs374358716 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19038921 19038922 rs184267092 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,ILLUMINA, 0 730 chr21 19038935 19038936 rs766910174 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038954 19038955 rs752092419 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19038977 19038978 rs914123 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.003986 0.044463 unknown exact 1 10 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19038988 19038989 rs796534530 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19039052 19039053 rs568553368 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19039085 19039086 rs376892532 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19039126 19039127 rs148652840 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19039130 19039131 rs35963263 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.27278 0.24896 unknown exact 1 21 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4192.000000,816.000000, 0.837061,0.162939, maf-5-some-pop 730 chr21 19039143 19039144 rs550817877 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19039152 19039152 rs34672175 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19039186 19039187 rs569069474 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19039199 19039200 rs144423510 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19039204 19039205 rs548470297 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19039211 19039212 rs756293612 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039227 19039228 rs566864757 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19039239 19039240 rs34361290 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19039258 19039259 rs117273808 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19039271 19039272 rs749579721 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039354 19039355 rs758104169 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039438 19039439 rs73892633 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19039460 19039461 rs569250484 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19039504 19039505 rs866745275 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19039513 19039514 rs577591737 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19039519 19039520 rs2824428 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.034911 0.127424 unknown exact 1 6 1000GENOMES,EVA_GENOME_DK,GMI,JMKIDD_LAB,PERLEGEN,SSMP, 2 C,T, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 730 chr21 19039521 19039522 rs2824429 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.277334 0.248501 unknown exact 1 24 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4175.000000,833.000000, 0.833666,0.166334, maf-5-some-pop,maf-5-all-pops 730 chr21 19039541 19039542 rs192896235 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19039542 19039543 rs746905239 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039547 19039548 rs78777980 0 + C C C/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19039556 19039557 rs575461848 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19039561 19039562 rs542888428 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19039570 19039571 rs552072836 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19039594 19039595 rs557959704 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19039684 19039685 rs376850823 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19039685 19039686 rs776066287 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039712 19039713 rs772126978 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19039722 19039723 rs561154733 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19039725 19039726 rs747619031 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039727 19039728 rs537546364 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19039742 19039743 rs772728018 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039744 19039744 rs35921865 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19039750 19039751 rs111560998 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 730 chr21 19039761 19039762 rs201448205 0 + G G A/G genomic single unknown 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 730 chr21 19039770 19039771 rs780207216 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19039776 19039777 rs766820210 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039778 19039779 rs774888145 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039792 19039793 rs743378 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.328148 0.237472 unknown exact 1 28 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3972.000000,1036.000000, 0.793131,0.206869, maf-5-some-pop,maf-5-all-pops 730 chr21 19039814 19039815 rs73310224 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.109814 0.206997 unknown exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 292.000000,4716.000000, 0.058307,0.941693, maf-5-some-pop 730 chr21 19039843 19039844 rs112628836 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19039845 19039846 rs189343642 0 + C C C/G/T genomic single by-1000genomes 0 0 unknown exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039854 19039855 rs145009393 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19039893 19039894 rs77525702 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 730 chr21 19039898 19039899 rs567692438 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19039918 19039919 rs553572751 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039967 19039968 rs779773038 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19039973 19039974 rs180913278 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19039978 19039979 rs150941416 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19039983 19039984 rs140774336 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040004 19040005 rs2824430 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.312348 0.242101 unknown exact 1 20 1000GENOMES,AFFY,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop 730 chr21 19040016 19040017 rs754846874 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040025 19040026 rs571179557 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19040044 19040045 rs557463743 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,T, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19040123 19040124 rs562472227 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040135 19040136 rs557087697 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19040153 19040154 rs748178114 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040163 19040164 rs796273362 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19040208 19040209 rs150101174 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040252 19040253 rs553461855 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,JMKIDD_LAB, 0 730 chr21 19040255 19040256 rs536434523 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040268 19040269 rs868414621 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19040286 19040287 rs10482889 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.208779 0.246578 unknown exact 1 18 1000GENOMES,AFFY,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 593.000000,4415.000000, 0.118411,0.881589, maf-5-some-pop,microattr-tpa 730 chr21 19040289 19040290 rs777385671 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040301 19040302 rs532362386 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19040322 19040322 rs777736478 0 + - - -/CACACA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040331 19040332 rs373888396 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 730 chr21 19040354 19040355 rs748853492 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040412 19040413 rs772694919 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19040420 19040421 rs2824431 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.470424 0.117954 unknown exact 1 30 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1895.000000,3113.000000, 0.378395,0.621605, maf-5-some-pop,maf-5-all-pops 730 chr21 19040424 19040425 rs368192595 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19040435 19040437 rs377315209 0 + TC TC -/TC genomic deletion unknown 0 0 unknown range 1 1 BILGI_BIOE, 0 730 chr21 19040436 19040437 rs371056793 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19040458 19040459 rs2849907 0 + T T G/T genomic single by-2hit-2allele 0.5 0 unknown exact 1 5 ABI,ENSEMBL,PJP,SC_JCM,SSAHASNP, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19040492 19040493 rs774789835 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040502 19040503 rs540485732 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040509 19040510 rs767940649 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19040513 19040514 rs564789055 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19040521 19040522 rs369107243 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 730 chr21 19040573 19040574 rs145517536 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19040574 19040575 rs370569574 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19040588 19040589 rs544241444 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040594 19040595 rs373307655 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19040602 19040603 rs562627446 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19040664 19040665 rs376570127 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19040666 19040667 rs530163704 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040671 19040672 rs772622119 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040699 19040700 rs369468162 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040716 19040717 rs114042532 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 59.000000,4949.000000, 0.011781,0.988219, 730 chr21 19040721 19040722 rs775834670 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040722 19040723 rs761281797 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19040726 19040727 rs375158004 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19040772 19040773 rs73195011 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19040781 19040782 rs114728796 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19040786 19040787 rs571100903 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040809 19040810 rs374174132 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19040813 19040814 rs761048685 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19040841 19040842 rs183915946 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19040901 19040902 rs550627994 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19040975 19040976 rs568950885 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19040989 19040990 rs8129838 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.131381 0.220067 unknown exact 1 14 1000GENOMES,AFFY,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 354.000000,4654.000000, 0.070687,0.929313, maf-5-some-pop 730 chr21 19041037 19041038 rs540804068 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19041080 19041081 rs145818541 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19041083 19041084 rs138466101 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19041085 19041086 rs761968231 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041089 19041090 rs575181072 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19041100 19041101 rs143098407 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19041118 19041119 rs533794994 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19041126 19041127 rs558805531 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19041138 19041139 rs144977728 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19041155 19041156 rs538076313 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 -,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19041178 19041179 rs2824432 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.47517 0.10862 unknown exact 1 29 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3062.000000,1946.000000, 0.611422,0.388578, maf-5-some-pop,genotype-conflict 730 chr21 19041180 19041181 rs549692929 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19041187 19041188 rs556111673 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19041216 19041217 rs189372459 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19041246 19041248 rs749329645 0 + TG TG -/TG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041383 19041384 rs541883568 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19041412 19041413 rs754756953 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041426 19041427 rs13046542 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.015454 0.086534 unknown exact 1 14 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19041428 19041429 rs527881102 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19041429 19041430 rs531565122 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19041430 19041431 rs141416520 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19041484 19041485 rs752548511 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041491 19041492 rs574405581 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19041507 19041508 rs551754276 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041522 19041523 rs777099286 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041523 19041524 rs748811054 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041554 19041555 rs150841258 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19041582 19041583 rs62241780 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.124491 0.216211 unknown exact 1 15 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 334.000000,4674.000000, 0.066693,0.933307, maf-5-some-pop 730 chr21 19041599 19041600 rs577332530 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19041600 19041601 rs371647174 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19041621 19041622 rs182075575 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19041622 19041623 rs566486870 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19041630 19041631 rs533975851 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19041635 19041636 rs558499984 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19041713 19041714 rs2824433 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.339203 0.233544 unknown exact 1 19 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1084.000000,3924.000000, 0.216454,0.783546, maf-5-some-pop 730 chr21 19041717 19041718 rs537715810 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19041722 19041722 rs775557046 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041781 19041782 rs772530389 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041802 19041803 rs139316138 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 35.000000,4973.000000, 0.006989,0.993011, 730 chr21 19041859 19041860 rs73310230 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 109.000000,4899.000000, 0.021765,0.978235, maf-5-some-pop 730 chr21 19041912 19041914 rs760597435 0 + CT CT -/CT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041951 19041952 rs186045210 0 + C C C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 1 1000GENOMES, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19041959 19041960 rs142791579 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 7 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 730 chr21 19041965 19041967 rs776446389 0 + CA CA -/CA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19041976 19041977 rs572481192 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19041985 19041986 rs776511465 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042023 19042024 rs4816762 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497558 0.034859 unknown exact 1 25 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 2679.000000,2329.000000, 0.534944,0.465056, maf-5-some-pop,maf-5-all-pops 730 chr21 19042029 19042030 rs564492603 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19042030 19042031 rs750625376 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042032 19042033 rs763203071 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042094 19042095 rs767177056 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042123 19042124 rs748032830 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19042124 19042125 rs191608042 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19042126 19042127 rs544088525 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19042139 19042140 rs374290994 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19042146 19042147 rs868511037 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19042163 19042164 rs181109498 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19042164 19042165 rs368462797 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19042177 19042178 rs529704964 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19042212 19042213 rs752561388 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042220 19042221 rs547912362 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19042235 19042236 rs560171982 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19042263 19042264 rs527370176 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19042268 19042269 rs755948421 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042288 19042289 rs777761214 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042291 19042292 rs147412817 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19042300 19042301 rs139756265 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19042312 19042313 rs756806125 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042314 19042315 rs546052078 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19042322 19042323 rs7278715 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499918 0.006389 unknown exact 1 32 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2536.000000,2472.000000, 0.506390,0.493610, maf-5-some-pop,maf-5-all-pops 730 chr21 19042325 19042326 rs568052862 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19042342 19042343 rs535824619 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19042393 19042394 rs56741854 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.041819 0.138422 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4901.000000,107.000000, 0.978634,0.021366, maf-5-some-pop 730 chr21 19042397 19042398 rs541102550 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19042400 19042401 rs572426024 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19042437 19042438 rs780222469 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042452 19042452 rs561009967 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA-GONL,EVA_DECODE, 0 730 chr21 19042464 19042465 rs145320529 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19042467 19042468 rs776849861 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19042507 19042508 rs558241235 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19042565 19042566 rs576663718 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19042616 19042617 rs762309334 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19042651 19042653 rs67702259 0 + TC TC -/TC genomic deletion by-cluster,by-frequency,by-1000genomes 0.498503 0.027315 unknown range 1 MixedObserved 10 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,SSMP, 2 -,TC, 2641.000000,2367.000000, 0.527356,0.472644, maf-5-some-pop,maf-5-all-pops 730 chr21 19042651 19042655 rs764889056 0 + TCTC TCTC -/TCTC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042653 19042655 rs763634072 0 + TC TC -/TC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042662 19042664 rs67553838 0 + CT CT -/CT genomic deletion unknown 0 0 unknown range 1 1 PJP, 0 730 chr21 19042668 19042669 rs553533734 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19042671 19042672 rs35201147 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 730 chr21 19042671 19042673 rs557415633 0 + TC TC -/TC genomic deletion unknown 0 0 unknown range 1 MixedObserved,SingleAlleleFreq 1 HGSV, 1 T, 4.000000, 1.000000, 730 chr21 19042672 19042674 rs749908534 0 + CC CC -/CC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042673 19042674 rs36018395 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19042674 19042675 rs544070774 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19042713 19042714 rs543251165 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042771 19042772 rs144144454 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19042781 19042782 rs748706212 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042846 19042847 rs769834385 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042899 19042900 rs574415854 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19042900 19042901 rs766639116 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19042934 19042935 rs115382141 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 730 chr21 19043009 19043010 rs559861006 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19043017 19043018 rs573414649 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19043029 19043030 rs760503124 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043094 19043095 rs763843959 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043117 19043118 rs750687803 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19043119 19043120 rs551942124 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19043130 19043131 rs148600397 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4963.000000,45.000000, 0.991014,0.008986, 730 chr21 19043145 19043146 rs142069421 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19043160 19043161 rs758504907 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19043180 19043181 rs753795874 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043198 19043199 rs867188907 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19043231 19043232 rs549596019 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19043235 19043236 rs73892634 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19043240 19043241 rs535357666 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043253 19043254 rs547684127 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043294 19043295 rs8134716 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.14933 0.228835 unknown exact 1 16 1000GENOMES,AFFY,BL,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 407.000000,4601.000000, 0.081270,0.918730, maf-5-some-pop 730 chr21 19043309 19043310 rs764787525 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043316 19043317 rs151161898 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19043325 19043326 rs200075680 0 + G G C/G genomic single by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,GMI, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19043334 19043335 rs749964164 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043363 19043364 rs186469937 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19043370 19043371 rs6517784 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.177503 0.239258 unknown exact 1 15 1000GENOMES,BCM_SSAHASNP,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4515.000000,493.000000, 0.901558,0.098443, maf-5-some-pop 730 chr21 19043403 19043404 rs779755763 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043409 19043410 rs140303695 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19043410 19043411 rs746701098 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043422 19043423 rs574194250 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043425 19043429 rs533342389 0 + TTTC TTTC -/TTTC genomic deletion unknown 0 0 unknown range 1 1 SSIP, 0 730 chr21 19043430 19043431 rs755352024 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043457 19043458 rs867156715 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19043490 19043491 rs541323814 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19043492 19043493 rs144385053 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.085092 0.187897 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 223.000000,4785.000000, 0.044529,0.955471, maf-5-some-pop 730 chr21 19043551 19043552 rs571946401 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043553 19043554 rs545822309 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19043565 19043566 rs563819686 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043577 19043578 rs531330293 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19043578 19043579 rs543134129 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19043602 19043603 rs146619112 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, 730 chr21 19043604 19043605 rs116517694 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 1 1000GENOMES, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 730 chr21 19043623 19043624 rs770308416 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043629 19043630 rs574322652 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19043630 19043631 rs547328264 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19043631 19043632 rs566011268 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043636 19043637 rs190905151 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19043641 19043642 rs781257488 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19043644 19043645 rs540238202 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19043693 19043694 rs551828651 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19043710 19043711 rs749391886 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19043723 19043724 rs182155551 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19043831 19043832 rs537509639 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19043871 19043872 rs36037397 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.49533 0.048096 unknown exact 1 15 1000GENOMES,BGI,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 2746.000000,2262.000000, 0.548323,0.451677, maf-5-some-pop,maf-5-all-pops 730 chr21 19043876 19043877 rs397867184 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 2 ABI,HGSV, 0 730 chr21 19043877 19043878 rs201897262 0 + G G -/G genomic deletion by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19043883 19043884 rs150258937 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19043908 19043909 rs373964666 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043912 19043913 rs535272842 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043943 19043944 rs4818366 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499977 0.003394 unknown exact 1 24 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 2487.000000,2521.000000, 0.496605,0.503395, maf-5-some-pop,maf-5-all-pops 730 chr21 19043948 19043949 rs578219942 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19043995 19043996 rs138950855 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 unknown exact 1 6 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4926.000000,82.000000, 0.983626,0.016374, maf-5-some-pop 730 chr21 19044010 19044011 rs75404315 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19044024 19044025 rs759717087 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044054 19044055 rs4818367 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499866 0.008186 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2463.000000,2545.000000, 0.491813,0.508187, maf-5-some-pop,maf-5-all-pops 730 chr21 19044055 19044056 rs575646150 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19044071 19044072 rs776586646 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044126 19044127 rs761781614 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044137 19044138 rs543072704 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19044155 19044156 rs377017735 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19044156 19044157 rs73200553 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 72.000000,4936.000000, 0.014377,0.985623, 730 chr21 19044162 19044163 rs567462117 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19044173 19044174 rs866864486 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19044201 19044202 rs186755877 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19044234 19044235 rs2824434 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.381113 0.21286 unknown exact 1 28 1000GENOMES,AFFY,BCMHGSC_JDW,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1283.000000,3725.000000, 0.256190,0.743810, maf-5-some-pop 730 chr21 19044254 19044255 rs148920720 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19044316 19044317 rs113696561 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19044371 19044372 rs765860546 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044384 19044385 rs751196291 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044396 19044397 rs2824435 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.31357 0.241783 unknown exact 1 21 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 975.000000,4033.000000, 0.194688,0.805312, maf-5-some-pop 730 chr21 19044416 19044417 rs781488078 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044485 19044486 rs2824436 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.497387 0.036048 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2685.000000,2323.000000, 0.536142,0.463858, maf-5-some-pop,maf-5-all-pops 730 chr21 19044493 19044494 rs777200292 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19044545 19044546 rs2824437 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.255224 0.249945 unknown exact 1 21 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 752.000000,4256.000000, 0.150160,0.849840, maf-5-some-pop 730 chr21 19044602 19044603 rs2824438 0 + G G A/C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.258624 0.252113 unknown exact 1 MixedObserved,SingleClassTriAllelic 22 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 A,C,G, 746.000000,15.000000,4247.000000, 0.148962,0.002995,0.848043, maf-5-some-pop 730 chr21 19044602 19044604 rs752036600 0 + GT GT -/GT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044608 19044609 rs567791378 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19044630 19044631 rs770308127 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19044641 19044642 rs75540789 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.086909 0.189476 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4780.000000,228.000000, 0.954473,0.045527, maf-5-some-pop 730 chr21 19044642 19044643 rs190884322 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19044654 19044655 rs9984249 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.132409 0.220618 unknown exact 1 13 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 357.000000,4651.000000, 0.071286,0.928714, maf-5-some-pop 730 chr21 19044663 19044664 rs538910593 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19044696 19044697 rs368680120 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19044734 19044735 rs557240201 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19044743 19044744 rs375423256 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19044744 19044745 rs73310234 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.133093 0.220981 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 359.000000,4649.000000, 0.071685,0.928315, maf-5-some-pop 730 chr21 19044763 19044764 rs9974182 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.328383 0.237395 unknown exact 1 20 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3971.000000,1037.000000, 0.792931,0.207069, maf-5-some-pop,maf-5-all-pops 730 chr21 19044826 19044827 rs772432677 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044858 19044859 rs776500172 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044905 19044906 rs555160117 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19044920 19044924 rs781563829 0 + TCTG TCTG -/TCTG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19044961 19044962 rs573708817 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19044974 19044975 rs2824439 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.28578 0.247426 unknown exact 1 20 1000GENOMES,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 865.000000,4143.000000, 0.172724,0.827276, maf-5-some-pop 730 chr21 19044975 19044976 rs769773345 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19045029 19045030 rs143668816 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19045061 19045061 rs543210304 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown between 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 -,A, 4995.000000,13.000000, 0.997404,0.002596, 730 chr21 19045074 19045075 rs773181854 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19045087 19045088 rs183426396 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19045089 19045090 rs752702446 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19045093 19045094 rs138373575 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19045110 19045111 rs755861749 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19045113 19045114 rs545278015 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19045114 19045115 rs563623604 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19045139 19045140 rs542547554 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19045155 19045156 rs530921662 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19045169 19045170 rs762843606 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19045195 19045196 rs765876998 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19045262 19045263 rs753684226 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19045273 19045274 rs188503216 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19045279 19045280 rs867426630 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19045286 19045287 rs561200291 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.001995 0.031534 unknown exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 2.000000,3.000000,5003.000000, 0.000399,0.000599,0.999002, 730 chr21 19045315 19045316 rs546796201 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19045331 19045332 rs571774465 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19045333 19045334 rs538852334 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19045366 19045367 rs192945241 0 + T T G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19045466 19045467 rs569251700 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19045506 19045507 rs536634297 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19045515 19045516 rs576588585 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19045518 19045519 rs117877167 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19045565 19045566 rs183127662 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19045571 19045572 rs767163391 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19045619 19045620 rs573570084 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19045620 19045621 rs565480995 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19045629 19045630 rs143934033 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19045665 19045666 rs562059011 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19045683 19045684 rs2824440 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.495368 0.0479 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2745.000000,2263.000000, 0.548123,0.451877, maf-5-some-pop,maf-5-all-pops 730 chr21 19045744 19045745 rs147403438 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19045764 19045765 rs575641012 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19045765 19045766 rs757726267 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19045794 19045795 rs73200561 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19045827 19045828 rs530954493 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19045839 19045840 rs371997753 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19045867 19045868 rs7277962 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.179425 0.239831 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4509.000000,499.000000, 0.900359,0.099641, maf-5-some-pop 730 chr21 19045900 19045901 rs772341777 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19045931 19045932 rs117319419 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19045932 19045933 rs118184496 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 G,T, 33.000000,4975.000000, 0.006589,0.993411, 730 chr21 19045935 19045936 rs565085229 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19045955 19045956 rs187913392 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19045965 19045966 rs172453 0 - A A G/T genomic single by-cluster,by-frequency,by-hapmap 0.106047 0.204396 unknown exact 1 5 ILLUMINA,KRIBB_YJKIM,KWOK,SC_JCM,TSC-CSHL, 2 G,T, 20.000000,336.000000, 0.056180,0.943820, maf-5-some-pop 730 chr21 19045989 19045990 rs2220863 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.425432 0.178112 unknown exact 1 25 1000GENOMES,ABI,BCM_SSAHASNP,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1537.000000,3471.000000, 0.306909,0.693091, maf-5-some-pop 730 chr21 19046035 19046037 rs144552592 0 + GT GT -/GT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 DuplicateObserved 2 1000GENOMES,LUNTER, 0 730 chr21 19046035 19046035 rs752653706 0 + - - -/GT genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 DDI, 0 730 chr21 19046036 19046037 rs200783479 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19046037 19046050 rs202043313 0 + AAAAAAAAAAAAA AAAAAAAAAAAAA -/AAAAAAAAAAAAA genomic deletion unknown 0 0 unknown range 1 1 GMI, 0 730 chr21 19046037 19046037 rs753056308 0 + - - -/AA/AAA/AAAAA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 rs-cluster-nonoverlapping-alleles 730 chr21 19046038 19046038 rs386394343 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19046041 19046041 rs755727228 0 + - - -/AAAAAAAAAAAAAA genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 730 chr21 19046043 19046044 rs2405640 0 + A A A/C genomic single by-cluster 0.5 0 unknown exact 1 6 ENSEMBL,GMI,PJP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19046044 19046045 rs868706118 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19046045 19046046 rs866064610 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19046057 19046058 rs544704205 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 730 chr21 19046059 19046060 rs66728523 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 PJP, 0 730 chr21 19046060 19046061 rs79629506 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 MixedObserved 3 COMPLETE_GENOMICS,HAMMER_LAB,ILLUMINA, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19046060 19046061 rs376337513 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 LUNTER, 0 730 chr21 19046060 19046060 rs58999607 0 + - - -/AA genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 AA, 2.000000, 1.000000, 730 chr21 19046074 19046075 rs1389997 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495999 0.044549 unknown exact 1 28 1000GENOMES,AFFY,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 2280.000000,2728.000000, 0.455272,0.544728, maf-5-some-pop,maf-5-all-pops 730 chr21 19046119 19046120 rs548610453 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19046126 19046127 rs138064505 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 730 chr21 19046136 19046137 rs374709724 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19046139 19046140 rs2824441 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.253264 0.249979 unknown exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 745.000000,4263.000000, 0.148762,0.851238, maf-5-some-pop 730 chr21 19046153 19046154 rs143636457 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19046154 19046155 rs538811379 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19046168 19046169 rs544801223 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19046169 19046170 rs557167413 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19046173 19046174 rs1494938 0 - T T A/C genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 2 ABI,TSC-CSHL, 1 A, 420.000000, 1.000000, 730 chr21 19046192 19046193 rs575528397 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19046202 19046203 rs1494937 0 - G G C/T genomic single by-cluster 0 0 unknown exact 1 2 ILLUMINA,TSC-CSHL, 0 730 chr21 19046223 19046224 rs113778213 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19046238 19046239 rs1389996 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497558 0.034859 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2679.000000,2329.000000, 0.534944,0.465056, maf-5-some-pop,maf-5-all-pops 730 chr21 19046251 19046252 rs554571969 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19046257 19046258 rs60533022 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.132751 0.2208 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 358.000000,4650.000000, 0.071486,0.928514, maf-5-some-pop 730 chr21 19046266 19046267 rs540310698 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19046284 19046285 rs565841183 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19046290 19046291 rs150579799 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19046315 19046316 rs532497752 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19046381 19046381 rs150473137 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.086546 0.189163 unknown between 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,A, 4781.000000,227.000000, 0.954673,0.045327, maf-5-some-pop 730 chr21 19046451 19046452 rs17002002 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.052082 0.152737 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 134.000000,4874.000000, 0.026757,0.973243, maf-5-some-pop 730 chr21 19046487 19046488 rs191864808 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19046513 19046514 rs376031907 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19046578 19046579 rs71319651 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19046606 19046607 rs760582081 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19046674 19046675 rs868191669 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19046678 19046679 rs728016 0 - T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.252983 0.249982 unknown exact 1 25 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4264.000000,744.000000, 0.851438,0.148562, maf-5-some-pop,genotype-conflict 730 chr21 19046699 19046700 rs567090069 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19046700 19046701 rs528071945 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19046705 19046706 rs13046530 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050948 0.151255 unknown exact 1 17 1000GENOMES,ABI,AFFY,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP, 2 C,T, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 730 chr21 19046710 19046711 rs571282594 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19046719 19046720 rs538705365 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19046723 19046724 rs557103977 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19046724 19046725 rs79878086 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19046729 19046730 rs867600765 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19046733 19046734 rs188431316 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19046749 19046750 rs192371414 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19046752 19046753 rs728015 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498415 0.02811 unknown exact 1 31 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2363.000000,2645.000000, 0.471845,0.528155, maf-5-some-pop,maf-5-all-pops 730 chr21 19046774 19046775 rs750994686 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19046785 19046786 rs728014 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498503 0.027315 unknown exact 1 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2641.000000,2367.000000, 0.527356,0.472644, maf-5-some-pop,maf-5-all-pops 730 chr21 19046791 19046792 rs9980239 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 730 chr21 19046802 19046803 rs558489093 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19046806 19046807 rs757810057 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19046819 19046820 rs576835273 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19046823 19046824 rs376270468 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19046839 19046840 rs780324147 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19046866 19046867 rs200608644 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19046872 19046873 rs185577123 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,SSMP, 2 C,T, 4975.000000,33.000000, 0.993411,0.006589, 730 chr21 19046892 19046893 rs728013 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498547 0.026918 unknown exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2639.000000,2369.000000, 0.526957,0.473043, maf-5-some-pop,maf-5-all-pops,genotype-conflict 730 chr21 19046920 19046921 rs530304775 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19046926 19046927 rs755277856 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047046 19047047 rs542089792 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047051 19047052 rs777567157 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047057 19047058 rs560814341 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047094 19047095 rs527947773 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047112 19047113 rs552922106 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047120 19047121 rs572414305 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19047125 19047126 rs770826906 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047154 19047155 rs532151096 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047155 19047156 rs774144523 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047165 19047166 rs745843092 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047218 19047219 rs117199183 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,SSMP, 2 C,T, 4975.000000,33.000000, 0.993411,0.006589, 730 chr21 19047247 19047248 rs568902196 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19047259 19047260 rs746569051 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19047300 19047301 rs536433226 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19047300 19047301 rs746975741 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047305 19047306 rs548114185 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19047310 19047311 rs540991453 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19047323 19047324 rs8133597 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.294064 0.246086 unknown exact 1 23 1000GENOMES,ABI,AFFY,BGI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 897.000000,4111.000000, 0.179113,0.820887, maf-5-some-pop,genotype-conflict 730 chr21 19047344 19047345 rs533804557 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19047351 19047352 rs558431549 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047360 19047361 rs576822942 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19047404 19047405 rs775002933 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047419 19047420 rs760263091 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047426 19047427 rs763653463 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047434 19047435 rs372294184 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSMP, 0 730 chr21 19047463 19047464 rs537889089 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19047472 19047473 rs190142299 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047481 19047482 rs181792912 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19047515 19047516 rs765685141 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047542 19047543 rs375542302 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19047557 19047558 rs750932855 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047595 19047596 rs542328802 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19047619 19047620 rs374580849 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19047645 19047646 rs28642280 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.256061 0.249927 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4253.000000,755.000000, 0.849241,0.150759, maf-5-some-pop 730 chr21 19047671 19047672 rs556255194 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19047693 19047694 rs766522808 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047698 19047699 rs187120757 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19047707 19047708 rs189485821 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19047708 19047709 rs181356316 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19047737 19047738 rs755185851 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047754 19047755 rs73310241 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.133777 0.221342 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4647.000000,361.000000, 0.927915,0.072085, maf-5-some-pop 730 chr21 19047761 19047762 rs139638599 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,SSMP, 2 G,T, 4975.000000,33.000000, 0.993411,0.006589, 730 chr21 19047775 19047776 rs565947758 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19047780 19047781 rs185044766 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19047811 19047812 rs112039108 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.132751 0.2208 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4650.000000,358.000000, 0.928514,0.071486, maf-5-some-pop 730 chr21 19047826 19047827 rs746070376 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19047860 19047861 rs778798820 0 + C C A/C/G genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047913 19047914 rs36027361 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19047914 19047915 rs548276696 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19047928 19047929 rs189752354 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19047955 19047956 rs774910910 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047989 19047990 rs111706571 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.133093 0.220981 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 359.000000,4649.000000, 0.071685,0.928315, maf-5-some-pop 730 chr21 19047990 19047991 rs768268404 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19047999 19048000 rs776122807 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19048019 19048020 rs183142002 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19048041 19048042 rs570445655 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19048068 19048069 rs765480837 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19048081 19048082 rs537825695 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19048140 19048141 rs796863396 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19048141 19048142 rs372121736 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 730 chr21 19048151 19048152 rs763500036 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19048152 19048153 rs556107554 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19048156 19048157 rs139191024 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19048166 19048167 rs535540749 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19048204 19048205 rs375831760 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19048226 19048227 rs564539481 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19048230 19048230 rs370113387 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 BILGI_BIOE,SSMP, 0 730 chr21 19048249 19048250 rs28546225 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 2 SSAHASNP,WEILL_CORNELL_DGM, 0 730 chr21 19048250 19048251 rs60992530 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19048275 19048276 rs187268758 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19048282 19048283 rs546462348 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19048292 19048293 rs766998150 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19048320 19048321 rs11088646 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SC_SNP, 0 730 chr21 19048322 19048323 rs113391695 0 + T T C/T genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19048384 19048385 rs752180214 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19048386 19048387 rs533492577 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19048445 19048446 rs564754782 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19048452 19048453 rs192436451 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19048478 19048479 rs28429213 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.133093 0.220981 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4649.000000,359.000000, 0.928315,0.071685, maf-5-some-pop 730 chr21 19048488 19048489 rs545801251 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19048499 19048500 rs562310681 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19048537 19048538 rs144069504 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19048559 19048560 rs28622215 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19048564 19048565 rs183334192 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19048565 19048566 rs368983965 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19048629 19048630 rs560232743 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19048632 19048633 rs112326496 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19048660 19048661 rs527466156 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19048715 19048716 rs551979859 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19048794 19048795 rs372629372 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 730 chr21 19048817 19048818 rs146454791 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19048818 19048819 rs73892635 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19048834 19048835 rs550056173 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19048859 19048860 rs568319675 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19048862 19048863 rs752820620 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19048869 19048870 rs60869752 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 4 1000GENOMES,HGSV,LUNTER,TISHKOFF, 2 -,T, 26.000000,4982.000000, 0.005192,0.994808, 730 chr21 19048871 19048872 rs756379813 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19048882 19048883 rs778514077 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19048889 19048890 rs546434173 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 730 chr21 19048917 19048918 rs188837392 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19048936 19048937 rs867896442 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19048958 19048959 rs211969 0 - T T A/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19048975 19048976 rs7275993 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.470908 0.117046 unknown exact 1 22 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3108.000000,1900.000000, 0.620607,0.379393, maf-5-some-pop,maf-5-all-pops 730 chr21 19048978 19048979 rs558355797 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19048979 19048980 rs116804494 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.086183 0.188849 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 226.000000,4782.000000, 0.045128,0.954872, maf-5-some-pop 730 chr21 19048984 19048985 rs544082949 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19048996 19048997 rs556071374 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19049000 19049001 rs574340440 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19049024 19049025 rs780788982 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19049025 19049026 rs114945045 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 43.000000,4965.000000, 0.008586,0.991414, 730 chr21 19049028 19049029 rs559968539 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19049054 19049055 rs371286520 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19049062 19049063 rs375993692 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19049136 19049137 rs62241781 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.139225 0.224118 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 377.000000,4631.000000, 0.075280,0.924720, maf-5-some-pop 730 chr21 19049138 19049139 rs142413875 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19049148 19049149 rs541300964 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19049164 19049165 rs554874790 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19049168 19049169 rs531408350 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19049188 19049189 rs549807324 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19049253 19049254 rs773645247 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19049265 19049266 rs151319460 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.086546 0.189163 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 227.000000,4781.000000, 0.045327,0.954673, maf-5-some-pop 730 chr21 19049305 19049306 rs529258882 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19049318 19049319 rs140632955 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.086546 0.189163 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4781.000000,227.000000, 0.954673,0.045327, maf-5-some-pop 730 chr21 19049326 19049327 rs150399124 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 730 chr21 19049344 19049345 rs191741259 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19049358 19049359 rs558293023 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19049363 19049364 rs367849478 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19049372 19049373 rs757744362 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19049374 19049375 rs570259932 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19049404 19049405 rs4816763 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495521 0.047112 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 2741.000000,2267.000000, 0.547324,0.452676, maf-5-some-pop,maf-5-all-pops 730 chr21 19049442 19049443 rs182699654 0 + A A A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19049446 19049447 rs115009351 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.086183 0.188849 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4782.000000,226.000000, 0.954872,0.045128, maf-5-some-pop 730 chr21 19049479 19049480 rs113041550 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 unknown exact 1 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4852.000000,156.000000, 0.968850,0.031150, maf-5-some-pop 730 chr21 19049480 19049481 rs532516451 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19049484 19049485 rs62241782 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19049540 19049541 rs577122365 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19049544 19049545 rs546135557 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19049548 19049549 rs764292333 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19049552 19049553 rs562533666 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19049569 19049570 rs571714378 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19049602 19049603 rs138340530 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.085456 0.188216 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 224.000000,4784.000000, 0.044728,0.955272, maf-5-some-pop 730 chr21 19049630 19049631 rs866295883 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19049654 19049655 rs563888771 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19049661 19049662 rs747033741 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19049664 19049665 rs768746398 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19049669 19049670 rs776514328 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19049680 19049681 rs866784732 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19049701 19049702 rs575825573 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19049757 19049758 rs761782620 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19049807 19049808 rs142343123 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.086546 0.189163 unknown exact 1 5 1000GENOMES,EVA_DECODE,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4781.000000,227.000000, 0.954673,0.045327, maf-5-some-pop 730 chr21 19049827 19049828 rs370457409 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 730 chr21 19049830 19049831 rs186599986 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19049846 19049847 rs114537842 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.085819 0.188533 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4783.000000,225.000000, 0.955072,0.044928, maf-5-some-pop 730 chr21 19049864 19049865 rs8130508 0 + G G A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497829 0.032876 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 28 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2669.000000,2339.000000, 0.532947,0.467053, maf-5-some-pop,maf-5-all-pops,genotype-conflict 730 chr21 19049946 19049947 rs766069153 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19049951 19049952 rs751276638 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19049966 19049967 rs559744685 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19050004 19050005 rs191523838 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 45.000000,4963.000000, 0.008986,0.991014, 730 chr21 19050029 19050029 rs764060331 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 730 chr21 19050030 19050031 rs75593817 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19050030 19050030 rs545718426 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 SSIP, 0 730 chr21 19050122 19050123 rs551894997 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19050167 19050168 rs570196648 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19050193 19050193 rs199718758 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 730 chr21 19050229 19050230 rs376415612 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.479583 0.098954 unknown exact 1 MixedObserved 2 1000GENOMES,SSMP, 2 -,A, 1998.000000,3010.000000, 0.398962,0.601038, maf-5-some-pop,maf-5-all-pops 730 chr21 19050229 19050231 rs776307378 0 + AA AA -/AA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19050230 19050231 rs756925692 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19050236 19050237 rs537225419 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19050257 19050258 rs528329635 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 0 730 chr21 19050280 19050281 rs549523958 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19050289 19050290 rs548494150 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19050309 19050310 rs566669612 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19050323 19050325 rs552265436 0 + AG AG -/AG genomic deletion by-frequency,by-1000genomes 0.003986 0.044463 unknown range 1 1 1000GENOMES, 2 -,AG, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19050334 19050335 rs28666647 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 156.000000,4852.000000, 0.031150,0.968850, maf-5-some-pop 730 chr21 19050364 19050365 rs747703235 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19050373 19050374 rs769254572 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19050392 19050393 rs535280104 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19050412 19050413 rs777555535 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19050432 19050433 rs748999287 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19050442 19050443 rs185562145 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19050445 19050446 rs553252040 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19050482 19050483 rs146468523 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19050490 19050490 rs34704706 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19050501 19050502 rs539090423 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19050507 19050508 rs557418435 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19050508 19050509 rs576117248 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19050557 19050558 rs543176125 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19050585 19050586 rs139154367 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19050634 19050635 rs573764440 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19050641 19050642 rs758777064 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19050645 19050646 rs529165230 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19050662 19050663 rs541273335 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19050672 19050673 rs7280580 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.469346 0.119947 unknown exact 1 20 1000GENOMES,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1884.000000,3124.000000, 0.376198,0.623802, maf-5-some-pop,maf-5-all-pops 730 chr21 19050675 19050676 rs533348212 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19050679 19050680 rs551826624 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19050720 19050721 rs774876046 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19050778 19050784 rs66467944 0 + AATAGA AATAGA -/AATAGA genomic deletion by-cluster,by-frequency,by-1000genomes 0.211819 0.247067 unknown range 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AATAGA, 603.000000,4405.000000, 0.120407,0.879593, maf-5-some-pop 730 chr21 19050782 19050788 rs59658106 0 + GAAATA GAAATA -/GAAATA genomic deletion by-cluster 0 0 unknown range 1 2 HGSV,TISHKOFF, 0 730 chr21 19050835 19050836 rs115840397 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 730 chr21 19050836 19050837 rs530998840 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19050840 19050841 rs867005327 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19050875 19050876 rs549216827 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19050907 19050908 rs781229680 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19050936 19050937 rs112926469 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 61.000000,4947.000000, 0.012180,0.987819, 730 chr21 19051010 19051011 rs760792027 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051101 19051102 rs115054588 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19051112 19051113 rs116900475 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19051125 19051126 rs762756900 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19051126 19051127 rs762051766 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051146 19051147 rs190330890 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19051148 19051149 rs144067064 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 730 chr21 19051166 19051167 rs78071649 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 4980.000000,28.000000, 0.994409,0.005591, 730 chr21 19051206 19051207 rs148268408 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19051208 19051209 rs751386376 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051212 19051213 rs537109059 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19051233 19051234 rs74411771 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, maf-5-some-pop 730 chr21 19051263 19051264 rs754808601 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051303 19051304 rs573770025 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19051305 19051306 rs541261838 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19051308 19051309 rs767485365 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051313 19051314 rs193283552 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19051315 19051316 rs577977377 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19051326 19051327 rs62241783 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.23846 0.249734 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 693.000000,4315.000000, 0.138379,0.861621, maf-5-some-pop 730 chr21 19051348 19051349 rs755666413 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051361 19051362 rs563657601 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19051393 19051397 rs772908365 0 + AATT AATT -/AATT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051418 19051419 rs569608735 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19051425 19051426 rs114412702 0 + G G A/G genomic single by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 730 chr21 19051458 19051459 rs374905204 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 6 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 730 chr21 19051459 19051460 rs369256736 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19051520 19051521 rs554799138 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19051550 19051551 rs76398997 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.098801 0.199095 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 261.000000,4747.000000, 0.052117,0.947883, maf-5-some-pop 730 chr21 19051552 19051553 rs546821132 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19051554 19051555 rs565645926 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19051565 19051566 rs185162949 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19051595 19051596 rs141382617 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 730 chr21 19051631 19051632 rs150718334 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19051662 19051663 rs377206947 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19051678 19051679 rs752246578 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19051755 19051756 rs569588716 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19051777 19051778 rs772378139 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19051788 19051789 rs189101569 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19051842 19051843 rs555424271 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19051908 19051909 rs116906990 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 7 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 G,T, 4947.000000,61.000000, 0.987819,0.012180, 730 chr21 19051929 19051930 rs181057039 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19051933 19051934 rs760109418 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19051952 19051953 rs185485614 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 730 chr21 19051956 19051957 rs377691772 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19051958 19051962 rs750916209 0 + ATAA ATAA -/ATAA genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 730 chr21 19051971 19051972 rs577919008 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19051986 19051987 rs188013422 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19052014 19052015 rs374854956 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 730 chr21 19052020 19052021 rs180783209 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19052026 19052027 rs776716057 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19052078 19052079 rs575583219 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19052086 19052087 rs8128554 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.328383 0.237395 unknown exact 1 19 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 1037.000000,3971.000000, 0.207069,0.792931, maf-5-some-pop 730 chr21 19052095 19052096 rs765450519 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19052101 19052102 rs376314174 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19052122 19052123 rs773373974 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19052123 19052124 rs139046285 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,SSMP, 2 A,G, 49.000000,4959.000000, 0.009784,0.990216, 730 chr21 19052150 19052151 rs759366846 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19052160 19052161 rs577198770 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19052182 19052183 rs528540403 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19052202 19052203 rs142362196 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.084 0.186933 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4788.000000,220.000000, 0.956070,0.043930, maf-5-some-pop 730 chr21 19052213 19052214 rs565096920 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19052222 19052223 rs532571512 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19052235 19052236 rs550859743 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19052302 19052303 rs79315964 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.270621 0.249148 unknown exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 808.000000,4200.000000, 0.161342,0.838658, maf-5-some-pop 730 chr21 19052332 19052333 rs111894165 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19052333 19052334 rs9981425 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.295599 0.245806 unknown exact 1 18 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 903.000000,4105.000000, 0.180312,0.819688, maf-5-some-pop,maf-5-all-pops 730 chr21 19052339 19052340 rs149819745 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.087997 0.190408 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 231.000000,4777.000000, 0.046126,0.953874, maf-5-some-pop 730 chr21 19052348 19052348 rs34558827 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19052371 19052372 rs61623184 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19052382 19052383 rs371784858 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19052404 19052405 rs567268411 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19052437 19052438 rs542048381 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19052458 19052459 rs145832993 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19052528 19052529 rs553103881 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19052543 19052544 rs79772975 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.108402 0.206034 unknown exact 1 10 1000GENOMES,DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 288.000000,4720.000000, 0.057508,0.942492, maf-5-some-pop 730 chr21 19052605 19052606 rs116490272 0 + G G A/G genomic single by-1000genomes 0.016806 0.090113 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,117.000000, 0.008475,0.991525, 730 chr21 19052631 19052632 rs538875805 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19052656 19052657 rs75195227 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.180702 0.240204 unknown exact 1 13 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4505.000000,503.000000, 0.899561,0.100439, maf-5-some-pop 730 chr21 19052663 19052664 rs148584509 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19052664 19052665 rs142950255 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 730 chr21 19052701 19052702 rs376795513 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19052702 19052703 rs368909574 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19052705 19052706 rs186193595 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19052732 19052733 rs147747078 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.108048 0.20579 unknown exact 1 8 1000GENOMES,DDI,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 287.000000,4721.000000, 0.057308,0.942692, maf-5-some-pop 730 chr21 19052740 19052741 rs563449772 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19052779 19052780 rs375128016 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19052799 19052800 rs142323029 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.108048 0.20579 unknown exact 1 10 1000GENOMES,DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4721.000000,287.000000, 0.942692,0.057308, maf-5-some-pop 730 chr21 19052802 19052803 rs530728596 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19052808 19052809 rs550519915 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19052841 19052842 rs565085248 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19052884 19052885 rs577014854 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19052890 19052891 rs373879774 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19052893 19052894 rs774274755 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19052922 19052923 rs373978842 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19052923 19052924 rs544506607 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19052931 19052932 rs563118184 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19052935 19052936 rs372449724 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19052936 19052936 rs568316312 0 + - - -/AA genomic insertion by-cluster,by-frequency,by-1000genomes 0.422787 0.180678 unknown between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AA, 3488.000000,1520.000000, 0.696486,0.303514, maf-5-some-pop,maf-5-all-pops 730 chr21 19052937 19052937 rs386394344 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19052952 19052952 rs386394345 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19052953 19052953 rs35100710 0 + - - -/AA genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 AA, 2.000000, 1.000000, 730 chr21 19052983 19052984 rs78062046 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.108402 0.206034 unknown exact 1 10 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4720.000000,288.000000, 0.942492,0.057508, maf-5-some-pop 730 chr21 19053000 19053001 rs565715717 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19053045 19053046 rs570328620 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19053047 19053048 rs560816894 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19053049 19053050 rs528136067 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19053067 19053068 rs780312385 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053072 19053073 rs199627896 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19053090 19053091 rs747463404 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053163 19053164 rs546707553 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19053204 19053205 rs571398578 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19053210 19053211 rs538817222 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19053223 19053224 rs868356950 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19053272 19053273 rs550475859 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19053317 19053320 rs201449813 0 + AAG AAG -/AAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,AAG, 28.000000,4980.000000, 0.005591,0.994409, 730 chr21 19053339 19053340 rs760054717 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053345 19053346 rs769167310 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053346 19053347 rs776626219 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053369 19053370 rs748221813 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053449 19053450 rs867159375 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19053452 19053453 rs769924201 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053457 19053458 rs56183129 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.288906 0.246954 unknown exact 1 17 1000GENOMES,BGI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 877.000000,4131.000000, 0.175120,0.824880, maf-5-some-pop,maf-5-all-pops 730 chr21 19053467 19053468 rs536118750 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19053502 19053503 rs373369463 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19053512 19053513 rs771862991 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053541 19053542 rs77920879 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.286825 0.247273 unknown exact 1 14 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4139.000000,869.000000, 0.826478,0.173522, maf-5-some-pop 730 chr21 19053553 19053554 rs146405990 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 4987.000000,21.000000, 0.995807,0.004193, 730 chr21 19053558 19053559 rs539661034 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19053596 19053597 rs760619981 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053633 19053634 rs753432220 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19053651 19053652 rs80088962 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,SSMP, 2 A,C, 4958.000000,50.000000, 0.990016,0.009984, 730 chr21 19053670 19053671 rs375814214 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19053672 19053673 rs544707677 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19053687 19053688 rs562899245 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19053735 19053736 rs548913802 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19053776 19053777 rs574976884 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19053794 19053795 rs368596140 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19053796 19053797 rs140516013 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4925.000000,83.000000, 0.983427,0.016573, 730 chr21 19053862 19053863 rs115887540 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 1 1000GENOMES, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, 730 chr21 19053908 19053909 rs8134235 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.285257 0.247501 unknown exact 1 22 1000GENOMES,AFFY,BGI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4145.000000,863.000000, 0.827676,0.172324, maf-5-some-pop,maf-5-all-pops 730 chr21 19053913 19053914 rs546648427 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19053925 19053926 rs77016280 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.13446 0.221699 unknown exact 1 10 1000GENOMES,DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 363.000000,4645.000000, 0.072484,0.927516, maf-5-some-pop 730 chr21 19053932 19053933 rs532077754 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19053954 19053955 rs191947225 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19053957 19053958 rs8133835 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.285257 0.247501 unknown exact 1 18 1000GENOMES,BGI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4145.000000,863.000000, 0.827676,0.172324, maf-5-some-pop 730 chr21 19053959 19053960 rs750050615 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053963 19053964 rs781424266 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19053972 19053973 rs758008000 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19053993 19053994 rs146227324 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 4 1000GENOMES,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,A, 35.000000,4973.000000, 0.006989,0.993011, 730 chr21 19053996 19053997 rs541518588 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19054009 19054010 rs780410855 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054078 19054079 rs867336111 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19054080 19054081 rs536493774 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19054128 19054129 rs75508270 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.155656 0.231515 unknown exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 426.000000,4582.000000, 0.085064,0.914936, maf-5-some-pop 730 chr21 19054218 19054219 rs566465730 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19054236 19054237 rs376688618 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 730 chr21 19054258 19054259 rs755403670 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054317 19054318 rs781656123 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054348 19054349 rs533856785 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19054417 19054418 rs116574299 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.082176 0.185298 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4793.000000,215.000000, 0.957069,0.042931, maf-5-some-pop 730 chr21 19054458 19054459 rs570520849 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001776 0.029745 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 4.000000,4497.000000, 0.000889,0.999111, 730 chr21 19054458 19054458 rs560381813 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown between 1 MixedObserved 2 1000GENOMES,SSIP, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19054459 19054460 rs13046413 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.194902 0.243853 unknown exact 1 MixedObserved 6 1000GENOMES,ABI,BCMHGSC_JDW,ENSEMBL,SSAHASNP,WEILL_CORNELL_DGM, 2 A,T, 548.000000,4460.000000, 0.109425,0.890575, maf-5-some-pop 730 chr21 19054459 19054459 rs202019679 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.182107 0.240604 unknown between 1 MixedObserved 2 1000GENOMES,BILGI_BIOE, 2 -,A, 4497.000000,507.000000, 0.898681,0.101319, maf-5-some-pop 730 chr21 19054507 19054508 rs62241784 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.067074 0.170406 unknown exact 1 14 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4834.000000,174.000000, 0.965256,0.034744, maf-5-some-pop 730 chr21 19054529 19054530 rs777748909 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054555 19054556 rs577160128 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19054576 19054577 rs186562479 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19054623 19054623 rs200954143 0 + - - -/TGT genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 730 chr21 19054664 19054665 rs1494936 0 - G G C/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 C, 420.000000, 1.000000, 730 chr21 19054683 19054684 rs149298889 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19054689 19054690 rs572750461 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19054705 19054706 rs553456886 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19054738 19054739 rs757255312 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19054749 19054750 rs546537757 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19054759 19054760 rs145517283 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 730 chr21 19054780 19054781 rs372148552 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19054807 19054808 rs2824442 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.387642 0.208697 unknown exact 1 20 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3691.000000,1317.000000, 0.737021,0.262979, maf-5-some-pop 730 chr21 19054824 19054825 rs542948562 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19054827 19054828 rs768617094 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054829 19054830 rs375853282 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19054862 19054863 rs776678284 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054868 19054869 rs543970105 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19054875 19054876 rs138142319 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19054899 19054900 rs73200574 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 730 chr21 19054912 19054913 rs547952820 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19054946 19054947 rs566343444 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19054954 19054955 rs57732730 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.464309 0.12873 unknown exact 1 MixedObserved 7 1000GENOMES,BL,ENSEMBL,GMI,HGSV,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 3173.000000,1835.000000, 0.633586,0.366414, maf-5-some-pop,maf-5-all-pops 730 chr21 19054954 19054960 rs71329771 0 + GGCCTG GGCCTG GGCCTG/TGGCTGGC genomic in-del unknown 0.5 0 unknown rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HUMANGENOME_JCVI, 2 GGCCTG,TGGCTGGC, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19054954 19054957 rs386816694 0 + GGC GGC GGC/TGG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19054954 19054954 rs35823528 0 + - - -/T/TGGCT genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 MixedObserved 3 1000GENOMES,ABI,LUNTER, 0 730 chr21 19054956 19054957 rs56757774 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.464309 0.12873 unknown exact 1 5 1000GENOMES,BL,GMI,HGSV,WEILL_CORNELL_DGM, 2 C,G, 3173.000000,1835.000000, 0.633586,0.366414, maf-5-some-pop,maf-5-all-pops 730 chr21 19054957 19054958 rs35690623 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19054959 19054959 rs201320088 0 + - - -/GG genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 730 chr21 19054960 19054960 rs34777289 0 + - - -/GC genomic insertion by-cluster,by-frequency,by-1000genomes 0.495174 0.048884 unknown between 1 14 1000GENOMES,ABI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,LUNTER,SSMP,TISHKOFF, 2 -,GC, 2750.000000,2258.000000, 0.549121,0.450879, maf-5-some-pop,maf-5-all-pops 730 chr21 19054961 19054961 rs756494302 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054963 19054964 rs113789583 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.260504 0.249779 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 771.000000,4237.000000, 0.153954,0.846046, maf-5-some-pop 730 chr21 19054968 19054969 rs538276481 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19054976 19054977 rs762601751 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19054979 19054979 rs149885090 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown between 1 2 1000GENOMES,TISHKOFF, 2 -,A, 4907.000000,101.000000, 0.979832,0.020168, 730 chr21 19054994 19054995 rs373346112 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19054996 19054997 rs56199089 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 7 1000GENOMES,AFFY,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4958.000000,50.000000, 0.990016,0.009984, 730 chr21 19055006 19055007 rs544161247 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19055014 19055015 rs568566397 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19055036 19055038 rs531551699 0 + GC GC -/GC genomic deletion by-frequency,by-1000genomes 0.007559 0.061011 unknown range 1 1 1000GENOMES, 2 -,GC, 19.000000,4989.000000, 0.003794,0.996206, 730 chr21 19055041 19055042 rs796859724 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19055046 19055047 rs4818368 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497855 0.032677 unknown exact 1 22 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 2668.000000,2340.000000, 0.532748,0.467252, maf-5-some-pop,maf-5-all-pops 730 chr21 19055057 19055057 rs562008283 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.022895 0.104514 unknown between 1 1 1000GENOMES, 2 -,A, 4950.000000,58.000000, 0.988419,0.011582, 730 chr21 19055074 19055075 rs4818369 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.496314 0.042773 unknown exact 1 24 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2719.000000,2289.000000, 0.542931,0.457069, maf-5-some-pop,maf-5-all-pops 730 chr21 19055083 19055084 rs572690021 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19055092 19055093 rs546476479 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19055124 19055125 rs558535641 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19055157 19055158 rs781580202 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055160 19055161 rs753165124 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055162 19055163 rs190638153 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19055196 19055197 rs564648052 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19055226 19055227 rs546201131 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19055234 19055235 rs756603244 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055247 19055248 rs182580612 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19055248 19055249 rs187241446 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19055267 19055268 rs928249 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.479421 0.099328 unknown exact 1 30 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 1996.000000,3012.000000, 0.398562,0.601438, maf-5-some-pop 730 chr21 19055271 19055272 rs541533629 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19055323 19055324 rs559867914 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19055362 19055363 rs117237194 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19055363 19055364 rs372489235 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 730 chr21 19055384 19055385 rs768407546 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19055392 19055393 rs369491532 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19055397 19055398 rs552041317 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19055407 19055408 rs145949020 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19055414 19055415 rs148634349 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19055418 19055419 rs550119428 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19055437 19055438 rs768531123 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055448 19055449 rs867739753 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19055465 19055466 rs190388071 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19055529 19055530 rs928250 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.476918 0.104919 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 3042.000000,1966.000000, 0.607428,0.392572, maf-5-some-pop,maf-5-all-pops 730 chr21 19055548 19055549 rs547917546 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19055552 19055553 rs78489882 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4960.000000,48.000000, 0.990415,0.009585, 730 chr21 19055598 19055599 rs2824443 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.142609 0.225759 unknown exact 1 19 1000GENOMES,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 387.000000,4621.000000, 0.077276,0.922724, maf-5-some-pop,genotype-conflict 730 chr21 19055611 19055612 rs141227078 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19055654 19055655 rs762357373 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055656 19055657 rs576703167 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19055736 19055737 rs150745390 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19055761 19055762 rs139336613 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 730 chr21 19055770 19055775 rs754061684 0 + TTTAT TTTAT -/TTTAT genomic deletion by-cluster 0 0 unknown range 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 0 730 chr21 19055805 19055806 rs574352996 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19055831 19055832 rs773965824 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055852 19055853 rs150039113 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19055866 19055867 rs759221047 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055891 19055892 rs767823637 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19055923 19055924 rs182497064 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19056000 19056001 rs550989717 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19056007 19056008 rs58134794 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,LUNTER,SSMP,TISHKOFF, 2 -,A, 243.000000,4765.000000, 0.048522,0.951478, maf-5-some-pop 730 chr21 19056062 19056063 rs370375775 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19056089 19056090 rs535755850 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19056116 19056117 rs188054506 0 + T T A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19056118 19056119 rs193083936 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19056121 19056122 rs759852211 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19056138 19056166 rs199921620 0 + TGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTG -/TGTGTGTGTGTGTGTGTGTGTGTGTGTG genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 GMI, 0 730 chr21 19056138 19056148 rs376411007 0 + TGTGTGTGTG TGTGTGTGTG -/TGTGTGTGTG genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 LUNTER, 0 730 chr21 19056138 19056142 rs376768278 0 + TGTG TGTG -/TGTG genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 LUNTER, 0 730 chr21 19056165 19056166 rs866761544 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19056173 19056185 rs58309560 0 + GTGTGTGTGTGT GTGTGTGTGTGT -/GTGTGTGTGTGT genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 730 chr21 19056176 19056181 rs754164756 0 + TGTGT TGTGT -/TGTGT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056176 19056188 rs754973595 0 + TGTGTGTGTGTA TGTGTGTGTGTA -/TGTGTGTGTGTA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 0 730 chr21 19056177 19056178 rs55898366 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19056180 19056188 rs769607235 0 + TGTGTGTA TGTGTGTA -/TGTGTGTA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056180 19056183 rs779591386 0 + TGT TGT -/TGT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056181 19056187 rs56870528 0 + GTGTGT GTGTGT -/GTGTGT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 HGSV, 0 730 chr21 19056181 19056182 rs868785166 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 730 chr21 19056182 19056190 rs748967492 0 + TGTGTATA TGTGTATA -/TGTGTATA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056182 19056188 rs761901476 0 + TGTGTA TGTGTA -/TGTGTA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_GENOME_DK, 0 730 chr21 19056183 19056184 rs7277844 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 10 BCM_SSAHASNP,BGI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,PJP,SSAHASNP,WEILL_CORNELL_DGM, 1 A, 2.000000, 1.000000, 730 chr21 19056183 19056189 rs748701095 0 + GTGTAT GTGTAT -/GTGTAT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056185 19056186 rs59111505 0 + G G A/G genomic single by-frequency,by-1000genomes 0.287346 0.247195 unknown exact 1 3 1000GENOMES,GMI,HGSV, 2 A,G, 871.000000,4137.000000, 0.173922,0.826078, maf-5-some-pop,maf-5-all-pops 730 chr21 19056186 19056190 rs374722350 0 + TATA TATA -/TATA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 730 chr21 19056186 19056188 rs767441616 0 + TA TA -/TA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_GENOME_DK, 0 730 chr21 19056187 19056188 rs58333824 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.296364 0.245663 unknown exact 1 7 1000GENOMES,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV, 2 A,G, 4102.000000,906.000000, 0.819089,0.180911, maf-5-some-pop 730 chr21 19056188 19056190 rs778061386 0 + TA TA -/TA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056189 19056190 rs59950660 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 3 1000GENOMES,HGSV,WEILL_CORNELL_DGM, 2 A,G, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 730 chr21 19056194 19056195 rs755191217 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19056253 19056254 rs147737316 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19056259 19056260 rs185729437 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19056290 19056291 rs201247400 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19056291 19056291 rs34982024 0 + - - -/G genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 16 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,PADH-LAB_SPU,PJP,SSIP,SSMP, 2 -,G, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19056292 19056292 rs67975024 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19056314 19056315 rs529356537 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19056346 19056347 rs764492370 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056351 19056352 rs547903234 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19056363 19056364 rs141049691 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.079983 0.183287 unknown exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4799.000000,209.000000, 0.958267,0.041733, maf-5-some-pop 730 chr21 19056407 19056408 rs753150358 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19056416 19056417 rs757248561 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056418 19056419 rs779165203 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056442 19056443 rs540018063 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19056461 19056462 rs7279423 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.499551 0.014969 unknown exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2579.000000,2429.000000, 0.514976,0.485024, maf-5-some-pop,maf-5-all-pops 730 chr21 19056568 19056569 rs144603239 0 + A A A/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 1 1000GENOMES, 2 A,T, 4989.000000,19.000000, 0.996206,0.003794, 730 chr21 19056574 19056575 rs568492122 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19056624 19056625 rs537702537 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19056634 19056635 rs758979660 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056643 19056644 rs187217264 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19056668 19056669 rs35143765 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.496649 0.040797 unknown exact 1 14 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 2299.000000,2709.000000, 0.459065,0.540935, maf-5-some-pop,maf-5-all-pops 730 chr21 19056674 19056675 rs397866571 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 2 ABI,HGSV, 0 730 chr21 19056683 19056687 rs764443003 0 + TTTG TTTG -/TTTG genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 730 chr21 19056757 19056761 rs753900478 0 + TCTG TCTG -/TCTG genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 730 chr21 19056762 19056763 rs758706253 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056768 19056769 rs117937685 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.141596 0.225274 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4624.000000,384.000000, 0.923323,0.076677, maf-5-some-pop 730 chr21 19056781 19056782 rs147887245 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 730 chr21 19056792 19056793 rs192154811 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19056797 19056798 rs578149001 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19056803 19056804 rs747892702 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056821 19056822 rs571778268 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19056882 19056883 rs769689452 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056899 19056900 rs773001660 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19056917 19056918 rs545594266 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19056938 19056939 rs200359856 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.278399 0.248382 unknown exact 1 6 1000GENOMES,DDI,EVA_DECODE,GMI,LUNTER,SSMP, 2 -,T, 837.000000,4171.000000, 0.167133,0.832867, maf-5-some-pop,maf-5-all-pops 730 chr21 19056940 19056944 rs386816695 0 + TCAG TCAG GAA/TCAG genomic in-del by-cluster 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19056940 19056941 rs564268920 0 + T T G/T genomic single by-frequency,by-1000genomes 0.143622 0.226238 unknown exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 390.000000,4618.000000, 0.077875,0.922125, maf-5-some-pop 730 chr21 19056940 19056943 rs754562076 0 + TCA TCA -/TCA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_GENOME_DK, 0 730 chr21 19056941 19056942 rs58079509 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.278399 0.248382 unknown exact 1 MixedObserved 4 1000GENOMES,GMI,HGSV,WEILL_CORNELL_DGM, 2 C,G, 4171.000000,837.000000, 0.832867,0.167133, maf-5-some-pop,maf-5-all-pops 730 chr21 19056941 19056942 rs376996799 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_DECODE,LUNTER, 0 730 chr21 19056943 19056944 rs56316052 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,GMI,HGSV,WEILL_CORNELL_DGM, 0 730 chr21 19056943 19056944 rs758401645 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19056944 19056944 rs747861933 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 730 chr21 19056988 19056989 rs537590774 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19056989 19056990 rs543701192 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057017 19057018 rs561878045 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057035 19057036 rs529290145 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057058 19057059 rs148953989 0 + G G G/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 1 1000GENOMES, 2 G,T, 4986.000000,22.000000, 0.995607,0.004393, 730 chr21 19057110 19057111 rs113338439 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 3 BUSHMAN,JMKIDD_LAB,TISHKOFF, 1 G, 1.000000, 1.000000, 730 chr21 19057138 19057139 rs143685591 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19057162 19057170 rs760987696 0 + GTCTATGT GTCTATGT -/GTCTATGT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057180 19057181 rs770392393 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19057208 19057209 rs773875899 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057247 19057248 rs533432004 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19057249 19057250 rs551585737 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19057292 19057293 rs188460342 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057314 19057315 rs531052953 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057316 19057317 rs796939530 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19057336 19057337 rs779695135 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057339 19057340 rs181591561 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19057341 19057342 rs184299446 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19057357 19057358 rs759134855 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057374 19057375 rs189482866 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19057398 19057399 rs767149186 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057469 19057470 rs151066068 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19057506 19057506 rs34146728 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19057508 19057509 rs775268021 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057515 19057516 rs565347928 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057517 19057518 rs575334649 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19057519 19057520 rs539475703 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057530 19057531 rs760921909 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057545 19057546 rs764557026 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057552 19057552 rs34876088 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19057574 19057575 rs116203406 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19057575 19057576 rs754258599 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057580 19057581 rs13047160 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.27893 0.24832 unknown exact 1 19 1000GENOMES,ABI,BGI,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4169.000000,839.000000, 0.832468,0.167532, maf-5-some-pop,maf-5-all-pops 730 chr21 19057589 19057590 rs543286586 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057594 19057595 rs765347930 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057596 19057597 rs181921065 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19057614 19057614 rs200953563 0 + - - -/TTG genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 730 chr21 19057615 19057616 rs199611718 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.353154 0.227726 unknown exact 1 MixedObserved 3 1000GENOMES,GMI,WEILL_CORNELL_DGM, 2 G,T, 1147.000000,3861.000000, 0.229034,0.770966, maf-5-some-pop,maf-5-all-pops 730 chr21 19057615 19057620 rs373769448 0 + TGTTT TGTTT -/TGTTT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 TISHKOFF, 0 730 chr21 19057615 19057617 rs386816696 0 + TG TG GT/TG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19057616 19057617 rs200884461 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.353587 0.22753 unknown exact 1 3 1000GENOMES,GMI,WEILL_CORNELL_DGM, 2 G,T, 3859.000000,1149.000000, 0.770567,0.229433, maf-5-some-pop,maf-5-all-pops 730 chr21 19057617 19057618 rs145889688 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.310878 0.242475 unknown exact 1 5 1000GENOMES,BILGI_BIOE,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,T, 964.000000,4044.000000, 0.192492,0.807508, maf-5-some-pop,maf-5-all-pops 730 chr21 19057617 19057617 rs369688449 0 + - - -/TTGT genomic insertion by-cluster 0 0 unknown between 1 4 DDI,EVA-GONL,HAMMER_LAB,LUNTER, 0 730 chr21 19057618 19057618 rs796489204 0 + - - -/TTG genomic insertion unknown 0 0 unknown between 1 1 PADH-LAB_SPU, 0 730 chr21 19057619 19057620 rs201867143 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 730 chr21 19057619 19057619 rs55944273 0 + - - -/GT/GTTT/GTTTTGTTT genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 3 GMI,HGSV,TISHKOFF, 0 730 chr21 19057620 19057621 rs199511683 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19057622 19057623 rs201150082 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19057625 19057626 rs200582145 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 unknown exact 1 3 1000GENOMES,BILGI_BIOE,GMI, 2 G,T, 4816.000000,192.000000, 0.961661,0.038339, maf-5-some-pop 730 chr21 19057626 19057628 rs370109276 0 + TT TT -/TT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 7 1000GENOMES,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER, 0 730 chr21 19057627 19057628 rs201757974 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19057628 19057628 rs142995755 0 + - - -/GTT/TTG/TTGTTTTG/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.310878 0.242475 unknown between 1 InconsistentAlleles 9 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,TTG, 4044.000000,964.000000, 0.807508,0.192492, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 730 chr21 19057630 19057631 rs367795350 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.152667 0.230274 unknown exact 1 MixedObserved 2 1000GENOMES,BILGI_BIOE, 2 G,T, 417.000000,4591.000000, 0.083267,0.916733, maf-5-some-pop 730 chr21 19057630 19057630 rs55850254 0 + - - -/G/GTT genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 MixedObserved 3 1000GENOMES,GMI,HGSV, 0 730 chr21 19057636 19057636 rs35658155 0 + - - -/TT genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19057651 19057652 rs758620181 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057667 19057668 rs376005378 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19057673 19057674 rs563665752 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19057684 19057685 rs537413875 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19057688 19057689 rs747305724 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19057692 19057693 rs559698915 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19057749 19057750 rs542535793 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19057758 19057759 rs191910442 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 730 chr21 19057834 19057835 rs567533014 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19057879 19057880 rs370669410 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19057940 19057941 rs546894579 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19057942 19057943 rs565335679 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19057948 19057949 rs747604454 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19057983 19057983 rs35408197 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19057997 19057998 rs557352513 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19057998 19057999 rs770870708 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058014 19058015 rs557821479 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058028 19058029 rs569679556 0 + T T A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19058056 19058057 rs537172800 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19058062 19058063 rs8127694 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497121 0.03783 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 2694.000000,2314.000000, 0.537939,0.462061, maf-5-some-pop,maf-5-all-pops 730 chr21 19058084 19058085 rs867736828 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19058102 19058102 rs772744176 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 730 chr21 19058103 19058103 rs35980598 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.5 0 unknown between 1 14 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,T, 2.000000,2.000000, 0.500000,0.500000, 730 chr21 19058112 19058112 rs397942055 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19058130 19058131 rs8126902 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497121 0.03783 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2314.000000,2694.000000, 0.462061,0.537939, maf-5-some-pop,maf-5-all-pops 730 chr21 19058155 19058156 rs186499430 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058162 19058163 rs74884023 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19058187 19058188 rs2405641 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497151 0.037632 unknown exact 1 28 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2693.000000,2315.000000, 0.537740,0.462260, maf-5-some-pop,maf-5-all-pops 730 chr21 19058200 19058201 rs190509884 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19058202 19058203 rs545100513 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19058203 19058204 rs760402800 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058209 19058210 rs28840070 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19058262 19058263 rs563722532 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058267 19058268 rs181550654 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19058274 19058275 rs777067386 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058279 19058280 rs551163034 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058312 19058313 rs542721187 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19058335 19058336 rs186214623 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19058351 19058352 rs765833703 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058361 19058362 rs775713666 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19058382 19058383 rs149247040 0 + A A A/G genomic single by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 1 1000GENOMES, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, 730 chr21 19058384 19058385 rs546880457 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058387 19058388 rs571021730 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058411 19058412 rs144476123 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 730 chr21 19058423 19058424 rs766520569 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058424 19058425 rs530510809 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19058439 19058442 rs777642683 0 + TTC TTC -/TTC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058458 19058459 rs190241498 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19058475 19058476 rs547343913 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19058477 19058478 rs755254077 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058478 19058479 rs183430262 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19058489 19058490 rs569651508 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058491 19058492 rs764163207 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19058492 19058493 rs200354024 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.188 0.24219 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,T, 526.000000,4482.000000, 0.105032,0.894968, maf-5-some-pop 730 chr21 19058521 19058522 rs536709222 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19058527 19058528 rs549144251 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19058533 19058534 rs535890622 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19058544 19058545 rs866391053 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19058565 19058566 rs754136452 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19058569 19058570 rs567457233 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058588 19058589 rs550682339 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058606 19058607 rs753675299 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058658 19058659 rs553279505 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19058672 19058673 rs2897190 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.49917 0.020351 unknown exact 1 22 1000GENOMES,ABI,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2606.000000,2402.000000, 0.520367,0.479633, maf-5-some-pop,maf-5-all-pops 730 chr21 19058714 19058715 rs778797750 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058736 19058737 rs538938559 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19058754 19058755 rs569335148 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19058813 19058814 rs143968934 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19058824 19058825 rs114560341 0 + C C C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19058836 19058837 rs187460965 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19058847 19058848 rs779637076 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058866 19058867 rs147308164 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,G, 4969.000000,39.000000, 0.992212,0.007788, 730 chr21 19058938 19058939 rs141010171 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19058956 19058957 rs376202044 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19058983 19058997 rs773986334 0 + TAGGCATTTATGAC TAGGCATTTATGAC -/TAGGCATTTATGAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19058993 19058994 rs371735436 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19059004 19059005 rs565500431 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19059015 19059016 rs145447456 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.155325 0.23138 unknown exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4583.000000,425.000000, 0.915136,0.084864, maf-5-some-pop 730 chr21 19059038 19059039 rs551268229 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19059043 19059044 rs563092404 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19059067 19059068 rs79687567 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.180383 0.240111 unknown exact 1 12 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 502.000000,4506.000000, 0.100240,0.899760, maf-5-some-pop 730 chr21 19059078 19059079 rs762257505 0 + G G C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059086 19059087 rs191045830 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059104 19059105 rs567394132 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059113 19059114 rs183741588 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19059114 19059115 rs570963578 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,SSIP, 0 730 chr21 19059126 19059127 rs763587119 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059211 19059212 rs546782688 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19059223 19059224 rs766323457 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059233 19059234 rs773721006 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059271 19059272 rs780779625 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19059312 19059313 rs553691985 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19059340 19059341 rs751677103 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059359 19059360 rs187699642 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19059362 19059363 rs533896716 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059375 19059376 rs553279124 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19059380 19059381 rs557270619 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059395 19059396 rs371862565 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19059397 19059398 rs4818370 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.497121 0.03783 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2314.000000,2694.000000, 0.462061,0.537939, maf-5-some-pop,maf-5-all-pops 730 chr21 19059417 19059418 rs139233118 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19059420 19059421 rs4818371 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.497151 0.037632 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 2693.000000,2315.000000, 0.537740,0.462260, maf-5-some-pop,maf-5-all-pops 730 chr21 19059429 19059430 rs373842625 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19059438 19059439 rs192612357 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19059441 19059442 rs149987525 0 + T T C/G/T genomic single by-frequency,by-1000genomes 0.002394 0.034528 unknown exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 C,G,T, 2.000000,4.000000,5002.000000, 0.000399,0.000799,0.998802, 730 chr21 19059467 19059468 rs577374548 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059481 19059482 rs117445580 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19059512 19059513 rs752962732 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059517 19059518 rs557456617 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059518 19059519 rs777247985 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19059538 19059539 rs530494018 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059550 19059551 rs542614263 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19059600 19059601 rs4818372 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.168135 0.236216 unknown exact 1 12 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4544.000000,464.000000, 0.907348,0.092652, maf-5-some-pop 730 chr21 19059650 19059651 rs184320213 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19059656 19059657 rs765043745 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059663 19059664 rs772393261 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19059691 19059692 rs1826704 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.024454 0.107838 unknown exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4946.000000,62.000000, 0.987620,0.012380, maf-5-some-pop 730 chr21 19059698 19059699 rs758344569 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059702 19059703 rs760897639 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19059708 19059709 rs187497608 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059713 19059714 rs532377838 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19059714 19059715 rs192548554 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19059724 19059725 rs145232687 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19059727 19059728 rs149173029 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19059728 19059729 rs746522535 0 + G G A/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059762 19059763 rs554511241 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19059779 19059780 rs780877060 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059795 19059796 rs144090804 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 33.000000,4975.000000, 0.006589,0.993411, 730 chr21 19059840 19059841 rs184889793 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059846 19059847 rs189052579 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19059847 19059848 rs146499075 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19059851 19059852 rs747845786 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059860 19059861 rs115764769 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19059953 19059954 rs769175285 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19059957 19059958 rs556500245 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19059958 19059959 rs111543336 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.176219 0.238865 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4519.000000,489.000000, 0.902356,0.097644, maf-5-some-pop 730 chr21 19059991 19059992 rs773735322 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19059991 19059991 rs771249998 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060030 19060031 rs749757885 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060053 19060054 rs771478528 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060063 19060064 rs774789691 0 + C C C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060077 19060078 rs759636554 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060105 19060106 rs144839054 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19060136 19060137 rs560818843 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19060145 19060146 rs528137958 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19060157 19060158 rs573428213 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19060171 19060172 rs564646978 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060172 19060173 rs775645517 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060196 19060197 rs760905218 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060227 19060228 rs148276586 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19060292 19060293 rs548921698 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19060307 19060308 rs539943647 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19060317 19060318 rs533599739 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19060340 19060341 rs180977098 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19060350 19060351 rs750223107 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060401 19060402 rs140062516 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19060450 19060451 rs758192163 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060456 19060457 rs150303942 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.046775 0.145601 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 120.000000,4888.000000, 0.023962,0.976038, maf-5-some-pop 730 chr21 19060467 19060468 rs751501367 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060470 19060471 rs183925476 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19060513 19060514 rs548085094 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19060554 19060555 rs780880272 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060586 19060587 rs566527069 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19060631 19060632 rs747754215 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060691 19060692 rs752543403 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19060719 19060720 rs755848525 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19060759 19060760 rs12482832 0 + A A A/C/G genomic single by-cluster,by-hapmap 0 0 unknown exact 1 MixedObserved,SingleClassTriAllelic 4 CSHL-HAPMAP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 730 chr21 19060759 19060760 rs58009944 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 MixedObserved 14 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19060759 19060759 rs750110232 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 DDI, 0 730 chr21 19060760 19060761 rs12482665 0 + G G G/T genomic single by-cluster,by-hapmap 0 0 unknown exact 1 2 CSHL-HAPMAP,GMI, 0 730 chr21 19060768 19060769 rs534231846 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19060797 19060798 rs59439047 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, 730 chr21 19060817 19060818 rs143567939 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 G,T, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19060898 19060899 rs28817693 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.289683 0.24683 unknown exact 1 18 1000GENOMES,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 880.000000,4128.000000, 0.175719,0.824281, maf-5-some-pop 730 chr21 19060900 19060901 rs556676811 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19060910 19060911 rs773679057 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19060928 19060929 rs575089070 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19060932 19060933 rs536151898 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19060945 19060946 rs554544819 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19060974 19060975 rs572862508 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19060983 19060984 rs777407609 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19061009 19061010 rs746390661 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061038 19061039 rs189392969 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19061044 19061045 rs772137077 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061052 19061053 rs182090704 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19061075 19061076 rs561057378 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19061092 19061093 rs8132709 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.303187 0.244277 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4075.000000,933.000000, 0.813698,0.186302, maf-5-some-pop 730 chr21 19061097 19061098 rs543984485 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19061105 19061106 rs28494686 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19061116 19061117 rs760819300 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061141 19061142 rs186061174 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19061153 19061154 rs764296479 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061200 19061201 rs529887220 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19061241 19061242 rs62241785 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 unknown exact 1 11 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4933.000000,75.000000, 0.985024,0.014976, 730 chr21 19061255 19061256 rs762785636 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061256 19061257 rs78890398 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19061269 19061270 rs747519996 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19061278 19061279 rs527610642 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19061280 19061281 rs8132994 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499801 0.009982 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2454.000000,2554.000000, 0.490016,0.509984, maf-5-some-pop,maf-5-all-pops 730 chr21 19061287 19061288 rs35747252 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19061290 19061291 rs570764467 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19061297 19061298 rs190278465 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19061314 19061315 rs759416415 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061318 19061319 rs796140293 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19061345 19061346 rs143223535 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 730 chr21 19061409 19061410 rs767079929 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061417 19061418 rs533785388 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19061440 19061441 rs568660593 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061442 19061443 rs181111279 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19061443 19061444 rs114718794 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 730 chr21 19061444 19061448 rs767553480 0 + GGGT GGGT -/GGGT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061470 19061471 rs186655648 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061541 19061542 rs7278562 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.278133 0.248412 unknown exact 1 MixedObserved 15 1000GENOMES,BCM_SSAHASNP,BGI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4172.000000,836.000000, 0.833067,0.166933, maf-5-some-pop,maf-5-all-pops 730 chr21 19061541 19061543 rs71333574 0 + AG AG AG/GA genomic mnp by-cluster 0.5 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 3 HAMMER_LAB,HUMANGENOME_JCVI,TISHKOFF, 2 AG,GA, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19061541 19061541 rs34580907 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 730 chr21 19061542 19061543 rs7276965 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.311123 0.242413 unknown exact 1 17 1000GENOMES,BCM_SSAHASNP,BGI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 965.000000,4043.000000, 0.192692,0.807308, maf-5-some-pop,maf-5-all-pops 730 chr21 19061544 19061545 rs35227992 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19061552 19061553 rs576769237 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19061559 19061560 rs544294128 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19061563 19061564 rs757597920 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061564 19061565 rs144822210 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 G,T, 4969.000000,39.000000, 0.992212,0.007788, 730 chr21 19061575 19061576 rs574269341 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061637 19061638 rs374867811 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA-GONL,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061655 19061656 rs191317728 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061681 19061682 rs773501198 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19061693 19061694 rs527538025 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061695 19061696 rs552189866 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061723 19061724 rs77463388 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.142272 0.225598 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4622.000000,386.000000, 0.922923,0.077077, maf-5-some-pop 730 chr21 19061727 19061728 rs117027782 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB, 2 C,T, 4950.000000,58.000000, 0.988419,0.011582, 730 chr21 19061731 19061732 rs550281653 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19061777 19061778 rs568598181 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061782 19061783 rs535976662 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061796 19061797 rs11702360 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.139564 0.224285 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4630.000000,378.000000, 0.924521,0.075479, maf-5-some-pop 730 chr21 19061797 19061798 rs780603522 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061808 19061809 rs75937647 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.168785 0.236441 unknown exact 1 11 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 466.000000,4542.000000, 0.093051,0.906949, maf-5-some-pop 730 chr21 19061818 19061819 rs182738505 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19061828 19061829 rs776803883 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061829 19061830 rs533560832 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19061832 19061833 rs542135120 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19061839 19061840 rs770712329 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061840 19061841 rs185257023 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19061849 19061850 rs148591569 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 730 chr21 19061898 19061899 rs190853963 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19061901 19061902 rs117347850 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 730 chr21 19061947 19061948 rs796528207 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19061958 19061959 rs767560464 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19061990 19061991 rs541531642 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19061994 19061995 rs866882593 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19062022 19062023 rs553501430 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062028 19062029 rs752744363 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062047 19062048 rs572193221 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19062056 19062057 rs560725159 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062064 19062065 rs183267481 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19062073 19062074 rs755914675 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19062079 19062080 rs546069324 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062085 19062086 rs763724388 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19062115 19062116 rs564257319 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062125 19062126 rs187192230 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062163 19062164 rs193174544 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062166 19062167 rs367975270 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 730 chr21 19062215 19062216 rs78088672 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.180702 0.240204 unknown exact 1 13 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 503.000000,4505.000000, 0.100439,0.899561, maf-5-some-pop 730 chr21 19062241 19062242 rs4607018 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.499801 0.009982 unknown exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 2454.000000,2554.000000, 0.490016,0.509984, maf-5-some-pop,maf-5-all-pops 730 chr21 19062249 19062250 rs779267799 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062258 19062259 rs182820743 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19062271 19062272 rs758818262 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062291 19062292 rs566263481 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19062306 19062307 rs533402332 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062307 19062308 rs188208333 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19062385 19062386 rs80186442 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.180702 0.240204 unknown exact 1 13 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 503.000000,4505.000000, 0.100439,0.899561, maf-5-some-pop 730 chr21 19062425 19062426 rs551850339 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062507 19062508 rs537362369 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062529 19062530 rs768683078 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062532 19062533 rs192763956 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 730 chr21 19062563 19062564 rs748345902 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062603 19062604 rs571412417 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19062615 19062616 rs769913714 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062631 19062632 rs567719238 0 + C C A/C/G genomic single by-frequency,by-1000genomes 0.001995 0.031534 unknown exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 2.000000,5003.000000,3.000000, 0.000399,0.999002,0.000599, 730 chr21 19062652 19062653 rs142775078 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19062661 19062662 rs572188558 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19062675 19062676 rs545706641 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19062683 19062684 rs150624669 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 730 chr21 19062726 19062727 rs183775410 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19062769 19062770 rs140073435 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19062770 19062771 rs574473525 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19062781 19062782 rs188453292 0 + C C C/G genomic single by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 1 1000GENOMES, 2 C,G, 4970.000000,38.000000, 0.992412,0.007588, 730 chr21 19062817 19062818 rs772045520 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19062884 19062885 rs62212885 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.303187 0.244277 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4075.000000,933.000000, 0.813698,0.186302, maf-5-some-pop,maf-5-all-pops 730 chr21 19062917 19062918 rs373296713 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19062930 19062931 rs115854579 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19062979 19062980 rs760706477 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19063007 19063008 rs547206230 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19063014 19063015 rs376574873 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19063022 19063023 rs763638277 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19063039 19063040 rs62212886 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.303187 0.244277 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4075.000000,933.000000, 0.813698,0.186302, maf-5-some-pop,maf-5-all-pops 730 chr21 19063057 19063058 rs536524276 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19063079 19063080 rs570238374 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19063109 19063110 rs35348433 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.053216 0.154195 unknown exact 1 11 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP, 2 C,T, 137.000000,4871.000000, 0.027356,0.972644, maf-5-some-pop 730 chr21 19063113 19063114 rs9941795 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.401392 0.198948 unknown exact 1 24 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1392.000000,3616.000000, 0.277955,0.722045, maf-5-some-pop,maf-5-all-pops 730 chr21 19063118 19063119 rs538300671 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19063132 19063133 rs146818849 0 + A A A/C genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 A,C, 4982.000000,26.000000, 0.994808,0.005192, 730 chr21 19063146 19063147 rs535114122 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063160 19063161 rs750138548 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19063162 19063163 rs547446364 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063175 19063176 rs140969906 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 38.000000,4970.000000, 0.007588,0.992412, 730 chr21 19063193 19063194 rs2824444 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499234 0.019554 unknown exact 1 28 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2406.000000,2602.000000, 0.480431,0.519569, maf-5-some-pop 730 chr21 19063216 19063217 rs557627232 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19063236 19063237 rs576307407 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063297 19063298 rs868502494 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19063321 19063324 rs761755248 0 + GGT GGT -/GGT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19063381 19063386 rs112270021 0 + TTAAT TTAAT -/TTAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.16846 0.236329 unknown range 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,TTAAT, 465.000000,4543.000000, 0.092851,0.907149, maf-5-some-pop 730 chr21 19063391 19063392 rs752012883 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19063393 19063393 rs552317400 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.010725 0.072438 unknown between 1 1 1000GENOMES, 2 -,T, 4981.000000,27.000000, 0.994609,0.005391, 730 chr21 19063442 19063443 rs192387478 0 + G G A/G genomic single by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 1 1000GENOMES, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 730 chr21 19063461 19063462 rs755491415 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19063477 19063478 rs74472923 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 730 chr21 19063481 19063482 rs4816764 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.16846 0.236329 unknown exact 1 14 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 465.000000,4543.000000, 0.092851,0.907149, maf-5-some-pop 730 chr21 19063507 19063508 rs372963276 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063537 19063538 rs117310471 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 76.000000,4932.000000, 0.015176,0.984824, 730 chr21 19063541 19063542 rs578002435 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19063542 19063543 rs143397430 0 + T T G/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 G,T, 26.000000,4982.000000, 0.005192,0.994808, 730 chr21 19063616 19063617 rs77035557 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 BGI,ILLUMINA,TISHKOFF, 0 730 chr21 19063617 19063617 rs10664258 0 + - - -/CTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.499203 0.019952 unknown between 1 14 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,CTT, 2604.000000,2404.000000, 0.519968,0.480032, maf-5-some-pop,maf-5-all-pops 730 chr21 19063618 19063618 rs369213635 0 + - - -/CTT/TTT genomic insertion by-cluster 0 0 unknown between 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PJP, 0 730 chr21 19063619 19063619 rs72550479 0 + - - -/CTT genomic insertion unknown 0 0 unknown between 1 1 BGI, 0 730 chr21 19063620 19063620 rs397751623 0 + - - -/CTT genomic insertion by-cluster 0 0 unknown between 1 3 ABI,BCMHGSC_JDW,GMI, 0 730 chr21 19063626 19063627 rs563724998 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19063671 19063672 rs531049683 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063674 19063674 rs369095242 0 + - - -/T/TT genomic insertion by-cluster 0 0 unknown between 1 2 BILGI_BIOE,SSMP, 0 730 chr21 19063696 19063697 rs760422522 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19063700 19063701 rs549250627 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063704 19063705 rs145605304 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19063705 19063706 rs4818374 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.170733 0.237101 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,GMI,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 472.000000,4536.000000, 0.094249,0.905751, maf-5-some-pop 730 chr21 19063735 19063736 rs4818375 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.303187 0.244277 unknown exact 1 16 1000GENOMES,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 933.000000,4075.000000, 0.186302,0.813698, maf-5-some-pop,maf-5-all-pops 730 chr21 19063757 19063758 rs565680929 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063797 19063798 rs374289615 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19063800 19063801 rs551501385 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19063805 19063806 rs569858660 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19063821 19063822 rs113485930 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.145283 0.228985 unknown exact 1 SingleClassTriAllelic 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 3 C,G,T, 4615.000000,22.000000,371.000000, 0.921526,0.004393,0.074082, 730 chr21 19063828 19063829 rs749564682 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19063830 19063831 rs573956410 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19063833 19063834 rs534924507 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19063834 19063835 rs184927500 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 5 1000GENOMES,DDI,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19063838 19063839 rs578004767 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063842 19063843 rs545159936 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19063870 19063871 rs546715281 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19063891 19063892 rs565004219 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063923 19063924 rs575410866 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19063959 19063960 rs542784539 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19063964 19063965 rs1908443 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.499234 0.019554 unknown exact 1 MixedObserved 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2406.000000,2602.000000, 0.480431,0.519569, maf-5-some-pop,maf-5-all-pops 730 chr21 19063964 19063966 rs200783322 0 + AC AC -/AC genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 GMI, 0 730 chr21 19063967 19063968 rs141961606 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19063977 19063978 rs547275991 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19063983 19063984 rs547513011 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19064003 19064004 rs189884057 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064004 19064005 rs746873735 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064024 19064025 rs182046378 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19064158 19064159 rs186880247 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19064218 19064219 rs374272484 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19064268 19064269 rs551174931 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19064282 19064283 rs2824445 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.141934 0.225437 unknown exact 1 12 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 G,T, 385.000000,4623.000000, 0.076877,0.923123, maf-5-some-pop 730 chr21 19064288 19064289 rs530647360 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19064320 19064321 rs8133746 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499218 0.019753 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2405.000000,2603.000000, 0.480232,0.519768, maf-5-some-pop,maf-5-all-pops 730 chr21 19064333 19064334 rs8133859 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.192715 0.243348 unknown exact 1 15 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 541.000000,4467.000000, 0.108027,0.891973, maf-5-some-pop 730 chr21 19064344 19064345 rs534607790 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19064352 19064357 rs754641128 0 + AGTAG AGTAG -/AGTAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064353 19064354 rs553271702 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19064380 19064381 rs189827335 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19064426 19064426 rs150611314 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.154661 0.231107 unknown between 1 11 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSIP,SSMP,TISHKOFF, 2 -,T, 4585.000000,423.000000, 0.915535,0.084465, maf-5-some-pop 730 chr21 19064486 19064487 rs181325274 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19064502 19064503 rs372406623 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,SSMP, 2 -,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19064506 19064507 rs184916437 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19064583 19064584 rs34546971 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.431768 0.17164 unknown exact 1 MixedObserved 10 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,PJP, 2 -,A, 1579.000000,3429.000000, 0.315296,0.684704, maf-5-some-pop,maf-5-all-pops 730 chr21 19064583 19064585 rs201485378 0 + AA AA -/AA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 GMI,SSMP, 0 730 chr21 19064597 19064598 rs796170328 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19064602 19064603 rs756730697 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19064606 19064607 rs189712729 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,TISHKOFF, 0 730 chr21 19064610 19064611 rs8127208 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WI_SSAHASNP, 2 A,T, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 730 chr21 19064613 19064614 rs145828453 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19064614 19064615 rs558599507 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19064646 19064647 rs211970 0 - C C G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19064678 19064679 rs766672775 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064718 19064719 rs138740743 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4978.000000,30.000000, 0.994010,0.005990, 730 chr21 19064745 19064746 rs2824446 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.399611 0.200291 unknown exact 1 26 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1382.000000,3626.000000, 0.275958,0.724042, maf-5-some-pop,maf-5-all-pops 730 chr21 19064773 19064774 rs143181806 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19064790 19064791 rs749678665 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19064797 19064798 rs755403749 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064802 19064803 rs370680358 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19064863 19064864 rs150463803 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19064867 19064868 rs767901014 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064894 19064895 rs544994927 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19064905 19064906 rs138320605 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 730 chr21 19064941 19064942 rs530570900 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19064945 19064946 rs549143909 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19064960 19064961 rs567457305 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19064962 19064963 rs777944269 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064963 19064964 rs149651524 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 730 chr21 19064964 19064965 rs771114893 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19064974 19064975 rs757554205 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19064975 19064976 rs546554985 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19064993 19064994 rs576104352 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 1 1000GENOMES, 2 -,T, 32.000000,4976.000000, 0.006390,0.993610, 730 chr21 19064999 19065000 rs571488812 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19065025 19065026 rs538572844 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19065052 19065053 rs371955600 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19065096 19065097 rs779341181 0 + G G A/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065111 19065112 rs183136810 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 730 chr21 19065139 19065140 rs768542620 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065206 19065207 rs568915228 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19065223 19065224 rs374409579 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19065276 19065277 rs776400364 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065277 19065278 rs748147442 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065281 19065282 rs144233930 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 4921.000000,87.000000, 0.982628,0.017372, maf-5-some-pop 730 chr21 19065303 19065304 rs774448946 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19065322 19065323 rs772721710 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065326 19065327 rs115590101 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF, 2 A,C, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 730 chr21 19065328 19065329 rs573343129 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19065379 19065380 rs376640945 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19065429 19065430 rs545621513 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19065436 19065437 rs540851624 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19065437 19065438 rs187455436 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19065448 19065449 rs577435845 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19065454 19065455 rs140001700 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19065455 19065456 rs2824447 0 + A A A/C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.49917 0.020351 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 32 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2606.000000,2402.000000, 0.520367,0.479633, maf-5-some-pop,maf-5-all-pops 730 chr21 19065475 19065476 rs79157460 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.19334 0.243495 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 14 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 543.000000,4465.000000, 0.108427,0.891573, maf-5-some-pop 730 chr21 19065507 19065508 rs192081052 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19065524 19065525 rs141970558 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 unknown exact 1 3 1000GENOMES,SSMP,TISHKOFF, 2 C,T, 4921.000000,87.000000, 0.982628,0.017372, maf-5-some-pop 730 chr21 19065526 19065527 rs146323557 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,G, 4970.000000,38.000000, 0.992412,0.007588, 730 chr21 19065534 19065535 rs764009444 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065542 19065543 rs546738982 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19065544 19065545 rs796486988 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19065560 19065561 rs749719626 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065588 19065589 rs372011502 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19065596 19065597 rs11301658 0 + T T -/T genomic deletion by-cluster 0.5 0 unknown exact 1 5 BILGI_BIOE,EVA_GENOME_DK,HUMANGENOME_JCVI,PJP,SSMP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19065602 19065603 rs564941056 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19065611 19065612 rs397866341 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19065624 19065625 rs532228702 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19065625 19065626 rs760584297 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19065642 19065643 rs868218326 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19065647 19065648 rs550508038 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19065679 19065680 rs4239822 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.498813 0.024332 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2382.000000,2626.000000, 0.475639,0.524361, maf-5-some-pop,maf-5-all-pops 730 chr21 19065725 19065726 rs183584560 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 730 chr21 19065737 19065738 rs142157109 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 44.000000,4964.000000, 0.008786,0.991214, 730 chr21 19065749 19065750 rs2088115 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.39527 0.203462 unknown exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3650.000000,1358.000000, 0.728834,0.271166, maf-5-some-pop,maf-5-all-pops 730 chr21 19065750 19065751 rs372612576 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP, 2 A,C, 86.000000,4922.000000, 0.017173,0.982827, maf-5-some-pop 730 chr21 19065751 19065752 rs559069881 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19065752 19065753 rs577408630 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19065754 19065755 rs576681633 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 730 chr21 19065755 19065756 rs139197505 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19065767 19065768 rs556128669 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19065790 19065791 rs188576868 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19065802 19065803 rs192900022 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19065815 19065816 rs4818376 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.303938 0.244112 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 936.000000,4072.000000, 0.186901,0.813099, maf-5-some-pop,maf-5-all-pops 730 chr21 19065848 19065849 rs182712820 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 730 chr21 19065876 19065877 rs796222302 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19065888 19065889 rs565086959 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19065889 19065890 rs2897191 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498794 0.024531 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2627.000000,2381.000000, 0.524561,0.475439, maf-5-some-pop,maf-5-all-pops 730 chr21 19065893 19065894 rs541116484 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19065934 19065935 rs200427837 0 + A A -/A genomic deletion by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19065935 19065936 rs11367025 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 3 BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19065935 19065935 rs555340142 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.277334 0.248501 unknown between 1 2 1000GENOMES,SSMP, 2 -,T, 4175.000000,833.000000, 0.833666,0.166334, maf-5-some-pop,maf-5-all-pops 730 chr21 19065936 19065936 rs35700855 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 5 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,PJP, 1 T, 2.000000, 1.000000, 730 chr21 19065945 19065946 rs397866955 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 730 chr21 19065945 19065946 rs532131797 0 + T T A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 JMKIDD_LAB, 0 730 chr21 19065946 19065946 rs397866883 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19065961 19065962 rs186612762 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19065972 19065973 rs562472580 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19065988 19065989 rs529847594 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19066004 19066005 rs777756233 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066032 19066033 rs748785582 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066090 19066091 rs770480071 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066092 19066093 rs773963954 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066128 19066129 rs2824448 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.303938 0.244112 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BL,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 936.000000,4072.000000, 0.186901,0.813099, maf-5-some-pop 730 chr21 19066137 19066138 rs576025621 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19066201 19066202 rs548531012 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066247 19066248 rs544591432 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19066270 19066271 rs534293606 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19066310 19066311 rs551953403 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19066340 19066341 rs772279522 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066347 19066348 rs569896213 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19066353 19066354 rs775923808 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066379 19066380 rs761008279 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066380 19066381 rs111717760 0 + G G A/G genomic single by-cluster,by-frequency 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 730 chr21 19066382 19066383 rs552428622 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066467 19066468 rs112294506 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19066469 19066470 rs571039128 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19066480 19066481 rs532428284 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19066488 19066489 rs141927167 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 730 chr21 19066521 19066522 rs556816439 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19066533 19066534 rs1967925 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.473909 0.111197 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1932.000000,3076.000000, 0.385783,0.614217, maf-5-some-pop 730 chr21 19066539 19066540 rs1967926 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.473909 0.111197 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3076.000000,1932.000000, 0.614217,0.385783, maf-5-some-pop 730 chr21 19066543 19066544 rs533786275 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 40.000000,4968.000000, 0.007987,0.992013, 730 chr21 19066544 19066545 rs553856390 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 40.000000,4968.000000, 0.007987,0.992013, 730 chr21 19066551 19066552 rs540314041 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19066563 19066564 rs564865609 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066573 19066574 rs145790194 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 730 chr21 19066585 19066586 rs543976927 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19066617 19066618 rs778144197 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19066658 19066659 rs562359682 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066668 19066669 rs147792425 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 730 chr21 19066678 19066679 rs2405642 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.43655 0.16643 unknown exact 1 18 1000GENOMES,ABI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3396.000000,1612.000000, 0.678115,0.321885, maf-5-some-pop,maf-5-all-pops 730 chr21 19066681 19066682 rs554659664 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19066684 19066685 rs568072923 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19066707 19066708 rs1908442 0 - G G A/C genomic single unknown 0 0 unknown exact 1 1 TSC-CSHL, 0 730 chr21 19066712 19066713 rs560526162 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19066713 19066714 rs368700852 0 + G G A/C/G genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_DECODE,SSMP, 0 730 chr21 19066722 19066723 rs191517886 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19066769 19066770 rs1908441 0 - C C C/G genomic single unknown 0 0 unknown exact 1 1 TSC-CSHL, 0 730 chr21 19066776 19066777 rs552616015 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066827 19066828 rs570928448 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19066850 19066851 rs531856150 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066854 19066855 rs550356538 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066866 19066867 rs568672926 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066867 19066868 rs536142764 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19066894 19066895 rs554208268 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19066900 19066901 rs9975809 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.474363 0.110278 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3071.000000,1937.000000, 0.613219,0.386781, maf-5-some-pop 730 chr21 19066933 19066934 rs780784597 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19066959 19066960 rs9979300 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.473634 0.111748 unknown exact 1 22 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3079.000000,1929.000000, 0.614816,0.385184, maf-5-some-pop 730 chr21 19066960 19066961 rs141948197 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 730 chr21 19066971 19066972 rs184776048 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4949.000000,59.000000, 0.988219,0.011781, 730 chr21 19066984 19066985 rs543914894 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19066994 19066995 rs555897241 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067011 19067012 rs780093892 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19067012 19067015 rs564767454 0 + CTT CTT -/CTT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,CTT, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19067024 19067025 rs190544675 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19067025 19067026 rs62212887 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.158302 0.232576 unknown exact 1 11 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 434.000000,4574.000000, 0.086661,0.913339, maf-5-some-pop 730 chr21 19067038 19067039 rs541028141 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19067040 19067041 rs560215174 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067053 19067054 rs527603551 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067072 19067073 rs112239751 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19067084 19067085 rs545843326 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067090 19067091 rs564480666 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19067124 19067125 rs141931903 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.414741 0.188044 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3538.000000,1470.000000, 0.706470,0.293530, maf-5-some-pop,maf-5-all-pops 730 chr21 19067142 19067143 rs550344512 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067195 19067196 rs530150226 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19067198 19067199 rs57080380 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 4 1000GENOMES,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 730 chr21 19067203 19067204 rs369465828 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067207 19067208 rs374168559 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19067215 19067216 rs548049364 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19067217 19067218 rs112328665 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.179425 0.239831 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,GMI,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 499.000000,4509.000000, 0.099641,0.900359, maf-5-some-pop 730 chr21 19067227 19067228 rs540142950 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067260 19067261 rs201350329 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.154329 0.23097 unknown exact 1 6 1000GENOMES,EVA-GONL,GMI,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4586.000000,422.000000, 0.915735,0.084265, maf-5-some-pop 730 chr21 19067271 19067272 rs111897933 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.154329 0.23097 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4586.000000,422.000000, 0.915735,0.084265, maf-5-some-pop 730 chr21 19067272 19067273 rs867911909 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19067309 19067310 rs537548300 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19067314 19067314 rs544010664 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.005178 0.050619 unknown between 1 1 1000GENOMES, 2 -,A, 4995.000000,13.000000, 0.997404,0.002596, 730 chr21 19067316 19067316 rs201514838 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 730 chr21 19067360 19067361 rs555871030 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19067383 19067384 rs34748496 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.417034 0.18601 unknown exact 1 16 1000GENOMES,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 1484.000000,3524.000000, 0.296326,0.703674, maf-5-some-pop,maf-5-all-pops 730 chr21 19067384 19067385 rs397750946 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 3 ABI,GMI,HGSV, 0 730 chr21 19067401 19067402 rs778421589 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067408 19067409 rs113820005 0 + T T A/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 730 chr21 19067423 19067424 rs575776108 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19067425 19067426 rs868212835 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19067455 19067456 rs541629779 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19067468 19067469 rs867283810 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19067474 19067475 rs148444660 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.179744 0.239925 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4508.000000,500.000000, 0.900160,0.099840, maf-5-some-pop 730 chr21 19067480 19067481 rs142625616 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19067505 19067506 rs193147541 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19067512 19067513 rs185245256 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067522 19067523 rs796672787 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19067528 19067529 rs190021767 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067569 19067570 rs543918288 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19067589 19067590 rs8128287 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.417034 0.18601 unknown exact 1 20 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1484.000000,3524.000000, 0.296326,0.703674, maf-5-some-pop,maf-5-all-pops 730 chr21 19067598 19067599 rs529411845 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067617 19067618 rs775059520 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067632 19067633 rs747375207 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067656 19067657 rs547642805 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19067657 19067658 rs769181211 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067674 19067675 rs181027980 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067677 19067678 rs533415774 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067703 19067704 rs370853197 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19067712 19067713 rs777236596 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067714 19067715 rs76373988 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 730 chr21 19067715 19067716 rs765349821 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067718 19067719 rs144186579 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19067719 19067720 rs376020810 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19067752 19067753 rs58937477 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.190833 0.242898 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4473.000000,535.000000, 0.893171,0.106829, maf-5-some-pop 730 chr21 19067777 19067778 rs535545211 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067810 19067811 rs8131884 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.416871 0.186156 unknown exact 1 22 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1483.000000,3525.000000, 0.296126,0.703874, maf-5-some-pop,maf-5-all-pops 730 chr21 19067819 19067820 rs751779751 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067826 19067827 rs147782781 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19067831 19067832 rs557052744 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19067843 19067844 rs539735845 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19067864 19067865 rs755874033 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067900 19067901 rs763910036 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19067906 19067907 rs558119078 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19067907 19067908 rs115204497 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4850.000000,158.000000, 0.968450,0.031549, maf-5-some-pop 730 chr21 19067992 19067993 rs796933554 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19068017 19068018 rs184059647 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19068034 19068054 rs145361802 0 + TTATTTATTTATTTATTTAT TTATTTATTTATTTATTTAT -/TTATTTATTTATTTATTTAT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 MixedObserved 5 1000GENOMES,DDI,EVA_GENOME_DK,GMI,LUNTER, 0 730 chr21 19068034 19068042 rs200920214 0 + TTATTTAT TTATTTAT -/TTATTTAT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 BILGI_BIOE,GMI, 0 730 chr21 19068034 19068034 rs531876030 0 + - - -/TTAT genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 SSIP,SSMP, 0 730 chr21 19068037 19068038 rs753729265 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19068055 19068075 rs574617629 0 + TATTTATTTATTTATTTATT TATTTATTTATTTATTTATT -/TATTTATTTATTTATTTATT genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 730 chr21 19068072 19068076 rs199859994 0 + ATTG ATTG -/ATTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown range 1 1 1000GENOMES, 2 -,ATTG, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19068115 19068116 rs560164134 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19068161 19068162 rs757822707 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19068203 19068204 rs2824449 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.473543 0.111932 unknown exact 1 24 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3080.000000,1928.000000, 0.615016,0.384984, maf-5-some-pop 730 chr21 19068209 19068210 rs140195128 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19068218 19068219 rs779225720 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19068222 19068223 rs541521239 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19068223 19068224 rs2824450 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.417034 0.18601 unknown exact 1 24 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3524.000000,1484.000000, 0.703674,0.296326, maf-5-some-pop,maf-5-all-pops 730 chr21 19068261 19068262 rs150311931 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19068298 19068299 rs745366255 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19068328 19068329 rs144953460 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19068364 19068366 rs772225845 0 + AT AT -/AT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19068384 19068385 rs531430087 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19068393 19068394 rs2824451 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.417034 0.18601 unknown exact 1 23 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3524.000000,1484.000000, 0.703674,0.296326, maf-5-some-pop,maf-5-all-pops 730 chr21 19068396 19068396 rs570695864 0 + - - -/AATCAAG genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 unknown between 1 1 1000GENOMES, 2 -,AATCAAG, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19068422 19068423 rs188009104 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19068444 19068444 rs34816397 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.417034 0.18601 unknown between 1 14 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 3524.000000,1484.000000, 0.703674,0.296326, maf-5-some-pop,maf-5-all-pops 730 chr21 19068447 19068448 rs76564240 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BGI, 0 730 chr21 19068447 19068447 rs397718243 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 2 ABI,HGSV, 0 730 chr21 19068454 19068455 rs2824452 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.417359 0.185718 unknown exact 1 19 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,PERLEGEN,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1486.000000,3522.000000, 0.296725,0.703275, maf-5-some-pop,maf-5-all-pops 730 chr21 19068460 19068461 rs2824453 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.481932 0.093315 unknown exact 1 24 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2980.000000,2028.000000, 0.595048,0.404952, maf-5-some-pop,maf-5-all-pops 730 chr21 19068488 19068489 rs149183340 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19068552 19068553 rs2824454 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.056607 0.158427 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 146.000000,4862.000000, 0.029153,0.970847, maf-5-some-pop 730 chr21 19068567 19068568 rs539672349 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19068584 19068585 rs577068953 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19068605 19068606 rs2824455 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.417034 0.18601 unknown exact 1 27 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3524.000000,1484.000000, 0.703674,0.296326, maf-5-some-pop,maf-5-all-pops 730 chr21 19068621 19068622 rs117200101 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 730 chr21 19068647 19068651 rs372704710 0 + AGAA AGAA -/AGAA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 730 chr21 19068648 19068649 rs143355363 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19068658 19068662 rs765219720 0 + TCTT TCTT -/TCTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19068669 19068670 rs555431155 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19068756 19068757 rs769823335 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19068784 19068785 rs118080442 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19068795 19068796 rs180776056 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19068819 19068820 rs375767724 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19068839 19068840 rs201094290 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19068841 19068842 rs13046395 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.417034 0.18601 unknown exact 1 15 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1484.000000,3524.000000, 0.296326,0.703674, maf-5-some-pop,maf-5-all-pops 730 chr21 19068856 19068857 rs577734816 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19068857 19068858 rs369882841 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19068920 19068921 rs34580015 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.409212 0.192748 unknown exact 1 8 1000GENOMES,ABI,BUSHMAN,DDI,EVA-GONL,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3571.000000,1437.000000, 0.713059,0.286941, maf-5-some-pop,maf-5-all-pops 730 chr21 19068923 19068925 rs35809160 0 + GG GG AA/GG genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 ABI, 0 730 chr21 19068923 19068924 rs56152302 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.409212 0.192748 unknown exact 1 MixedObserved 5 1000GENOMES,DDI,GMI,HGSV,WEILL_CORNELL_DGM, 2 A,G, 1437.000000,3571.000000, 0.286941,0.713059, maf-5-some-pop,maf-5-all-pops 730 chr21 19068924 19068925 rs71329772 0 + G G CGGGG/TGGAA genomic mnp unknown 0.5 0 unknown rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,ObservedMismatch 1 HUMANGENOME_JCVI, 2 CGGGG,TGGAA, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19068924 19068925 rs117837795 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.409212 0.192748 unknown exact 1 MixedObserved 4 1000GENOMES,DDI,GMI,WEILL_CORNELL_DGM, 2 A,G, 1437.000000,3571.000000, 0.286941,0.713059, maf-5-some-pop 730 chr21 19068925 19068926 rs201302643 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19068954 19068955 rs13050631 0 + A A A/G genomic single by-cluster,by-1000genomes 0.5 0 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19068986 19068987 rs4344989 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19068987 19069019 rs753850218 0 + GGGGAATATCACAAAGTACCTTCTTAAGGGCG GGGGAATATCACAAAGTACCTTCTTAAGGGCG lengthTooLong genomic in-del unknown 0 0 unknown range 1 ObservedTooLong 1 EVA_GENOME_DK, 0 730 chr21 19068988 19068989 rs13049341 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 ABI,SSAHASNP, 0 730 chr21 19069017 19069018 rs372558241 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19069018 19069019 rs867351343 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19069049 19069050 rs375833937 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19069050 19069051 rs4818377 0 + G G A/G genomic single by-cluster,by-2hit-2allele 0 0 unknown exact 1 3 SC_SNP,WEILL_CORNELL_DGM,WI_SSAHASNP, 0 730 chr21 19069082 19069083 rs4818378 0 + A A A/G genomic single by-cluster,by-2hit-2allele 0.5 0 unknown exact 1 5 COMPLETE_GENOMICS,SC_SNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19069095 19069096 rs796079191 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19069101 19069102 rs111590329 0 + C C A/C genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19069114 19069115 rs796708890 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 PADH-LAB_SPU,WEILL_CORNELL_DGM, 0 730 chr21 19069127 19069128 rs796932894 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19069134 19069135 rs77269564 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.172028 0.23753 unknown exact 1 5 1000GENOMES,EVA-GONL,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4532.000000,476.000000, 0.904952,0.095048, maf-5-some-pop 730 chr21 19069145 19069146 rs148546047 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.261608 0.24973 unknown exact 1 4 1000GENOMES,BL,GMI,WEILL_CORNELL_DGM, 2 C,T, 775.000000,4233.000000, 0.154752,0.845248, maf-5-some-pop 730 chr21 19069150 19069151 rs777916500 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19069166 19069167 rs570214814 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19069179 19069180 rs13052403 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19069213 19069214 rs201946315 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19069214 19069215 rs200377557 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 GMI,WEILL_CORNELL_DGM, 0 730 chr21 19069225 19069226 rs370850118 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 LUNTER, 0 730 chr21 19069244 19069245 rs13052520 0 + G G A/G genomic single by-frequency 0.5 0 unknown exact 1 2 ENSEMBL,SSAHASNP, 2 A,G, 3.000000,3.000000, 0.500000,0.500000, 730 chr21 19069257 19069258 rs113343602 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.274124 0.248833 unknown exact 1 4 1000GENOMES,BUSHMAN,DDI,LUNTER, 2 -,A, 821.000000,4187.000000, 0.163938,0.836062, maf-5-some-pop,maf-5-all-pops 730 chr21 19069265 19069266 rs547155525 0 + T T C/T genomic single by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 1 1000GENOMES, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19069275 19069276 rs13046263 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.5 0 unknown exact 1 7 1000GENOMES,DDI,ENSEMBL,EVA-GONL,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3.000000,3.000000, 0.500000,0.500000, 730 chr21 19069278 19069279 rs866958950 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19069288 19069289 rs868450550 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19069289 19069290 rs377249774 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 LUNTER, 0 730 chr21 19069308 19069309 rs13052543 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.420415 0.182917 unknown exact 1 7 1000GENOMES,DDI,ENSEMBL,ILLUMINA-UK,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1505.000000,3503.000000, 0.300519,0.699481, maf-5-some-pop,maf-5-all-pops 730 chr21 19069314 19069315 rs533077072 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069328 19069329 rs13046761 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.417521 0.185571 unknown exact 1 12 1000GENOMES,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3521.000000,1487.000000, 0.703075,0.296925, maf-5-some-pop,maf-5-all-pops 730 chr21 19069344 19069345 rs569870773 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19069366 19069367 rs13052642 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.417359 0.185718 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1486.000000,3522.000000, 0.296725,0.703275, maf-5-some-pop,maf-5-all-pops 730 chr21 19069387 19069388 rs555677350 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069392 19069393 rs567527859 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069393 19069394 rs534983260 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19069409 19069410 rs13046790 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.423413 0.180077 unknown exact 1 17 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3484.000000,1524.000000, 0.695687,0.304313, maf-5-some-pop,maf-5-all-pops 730 chr21 19069448 19069449 rs13049953 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.423413 0.180077 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1524.000000,3484.000000, 0.304313,0.695687, maf-5-some-pop,maf-5-all-pops 730 chr21 19069460 19069461 rs749096499 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19069481 19069482 rs138827529 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069484 19069485 rs545109687 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19069500 19069501 rs557124079 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19069532 19069533 rs2824456 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.417521 0.185571 unknown exact 1 21 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1487.000000,3521.000000, 0.296925,0.703075, maf-5-some-pop,maf-5-all-pops 730 chr21 19069544 19069545 rs76580587 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 730 chr21 19069555 19069556 rs202050117 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19069625 19069626 rs561661272 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069628 19069629 rs528796797 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069632 19069633 rs182313632 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19069652 19069653 rs559393111 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19069670 19069671 rs79375110 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4954.000000,54.000000, 0.989217,0.010783, 730 chr21 19069680 19069681 rs551540450 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069696 19069697 rs75603926 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,C, 4943.000000,65.000000, 0.987021,0.012979, maf-5-some-pop 730 chr21 19069698 19069699 rs186824427 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069706 19069707 rs11088647 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.472522 0.113946 unknown exact 1 22 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1917.000000,3091.000000, 0.382788,0.617212, maf-5-some-pop,maf-5-all-pops 730 chr21 19069727 19069728 rs567526348 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19069749 19069750 rs11088648 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.473174 0.112665 unknown exact 1 19 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1924.000000,3084.000000, 0.384185,0.615815, maf-5-some-pop,maf-5-all-pops 730 chr21 19069808 19069809 rs546934420 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19069809 19069810 rs571349568 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069830 19069831 rs748510902 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19069862 19069863 rs538745578 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19069864 19069865 rs557062342 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069882 19069883 rs147201961 0 + G G C/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19069895 19069896 rs190652133 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069914 19069915 rs554886138 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19069944 19069945 rs573436424 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19069986 19069987 rs770332744 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070003 19070004 rs140602183 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19070039 19070042 rs762849344 0 + GAG GAG -/GAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070042 19070043 rs540577878 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070049 19070050 rs778314364 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070072 19070073 rs182574467 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19070081 19070082 rs577757097 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070091 19070092 rs11088649 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.473174 0.112665 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3084.000000,1924.000000, 0.615815,0.384185, maf-5-some-pop,maf-5-all-pops 730 chr21 19070107 19070108 rs4818379 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.145305 0.227022 unknown exact 1 15 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 395.000000,4613.000000, 0.078874,0.921126, maf-5-some-pop 730 chr21 19070108 19070109 rs774312173 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070121 19070122 rs57436250 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.180702 0.240204 unknown exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4505.000000,503.000000, 0.899561,0.100439, maf-5-some-pop 730 chr21 19070150 19070151 rs541655471 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19070170 19070171 rs549117011 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19070180 19070181 rs560937760 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19070181 19070181 rs113075442 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.045634 0.143994 unknown between 1 3 1000GENOMES,BUSHMAN,HAMMER_LAB, 2 -,T, 4891.000000,117.000000, 0.976637,0.023363, maf-5-some-pop 730 chr21 19070193 19070194 rs528379911 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19070194 19070195 rs546626304 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070199 19070200 rs772264652 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070229 19070230 rs571286330 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070245 19070246 rs775735232 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070249 19070250 rs538682223 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070269 19070270 rs61597038 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,HGSV, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19070276 19070277 rs751763480 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19070278 19070279 rs57826906 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19070282 19070283 rs796662997 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19070292 19070293 rs61089548 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19070307 19070308 rs568982047 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19070314 19070315 rs561904340 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19070323 19070324 rs177034 0 - C C A/C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassQuadAllelic,InconsistentAlleles 4 1000GENOMES,HGSV,KWOK,SEQUENOM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, rs-cluster-nonoverlapping-alleles 730 chr21 19070342 19070343 rs147432483 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.312837 0.241974 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 972.000000,4036.000000, 0.194089,0.805911, maf-5-some-pop,maf-5-all-pops 730 chr21 19070347 19070348 rs534501454 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19070374 19070375 rs73202603 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.312837 0.241974 unknown exact 1 14 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4036.000000,972.000000, 0.805911,0.194089, maf-5-some-pop,maf-5-all-pops 730 chr21 19070387 19070388 rs750324384 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070388 19070389 rs577694915 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19070423 19070424 rs79756307 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, maf-5-some-pop 730 chr21 19070437 19070438 rs62212888 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.282632 0.247861 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4155.000000,853.000000, 0.829673,0.170327, maf-5-some-pop,maf-5-all-pops 730 chr21 19070442 19070443 rs765848356 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070445 19070446 rs150951027 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19070447 19070448 rs61583392 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19070452 19070453 rs751109476 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070471 19070472 rs754594202 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070490 19070491 rs780970285 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070513 19070515 rs142795503 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown range 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,AA, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop,maf-5-all-pops 730 chr21 19070525 19070526 rs752439827 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070557 19070558 rs2824457 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.312348 0.242101 unknown exact 1 20 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4038.000000,970.000000, 0.806310,0.193690, maf-5-some-pop,maf-5-all-pops 730 chr21 19070581 19070582 rs535270500 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19070582 19070583 rs116139922 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19070585 19070586 rs749748638 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070611 19070612 rs528303662 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070623 19070624 rs111758581 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19070650 19070651 rs568748367 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19070653 19070654 rs564802879 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070666 19070667 rs112063927 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.120674 0.21395 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 323.000000,4685.000000, 0.064497,0.935503, maf-5-some-pop 730 chr21 19070680 19070681 rs57119694 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19070721 19070722 rs57877000 0 + A A A/G genomic single unknown 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 0 730 chr21 19070740 19070741 rs8129358 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.312593 0.242037 unknown exact 1 17 1000GENOMES,ABI,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 971.000000,4037.000000, 0.193890,0.806110, maf-5-some-pop,maf-5-all-pops 730 chr21 19070743 19070744 rs143786632 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19070744 19070745 rs530199467 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19070754 19070755 rs146861145 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19070763 19070764 rs868766698 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19070767 19070768 rs59678188 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19070790 19070791 rs557413944 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070797 19070798 rs8130441 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown exact 1 16 1000GENOMES,ABI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4038.000000,970.000000, 0.806310,0.193690, maf-5-some-pop,maf-5-all-pops 730 chr21 19070798 19070799 rs58219048 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19070819 19070820 rs760907217 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19070881 19070882 rs796581339 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19070882 19070883 rs187238111 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19070889 19070897 rs755141931 0 + AAAAAAAG AAAAAAAG -/AAAAAAAG genomic deletion unknown 0 0 unknown range 1 1 EVA_GENOME_DK, 0 730 chr21 19070896 19070897 rs8129551 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 8 BL,BUSHMAN,DDI,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,WI_SSAHASNP, 1 A, 3.000000, 1.000000, 730 chr21 19070896 19070897 rs56763327 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 BILGI_BIOE,GMI, 0 730 chr21 19070896 19070904 rs548224242 0 + GAAAAAAA GAAAAAAA -/GAAAAAAA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 HGSV, 0 730 chr21 19070897 19070898 rs550005822 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 SSIP, 0 730 chr21 19070897 19070898 rs866931801 0 + A A A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 730 chr21 19070912 19070912 rs59837228 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19070966 19070967 rs73310284 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4717.000000,291.000000, 0.941893,0.058107, maf-5-some-pop 730 chr21 19071011 19071012 rs772887357 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19071039 19071040 rs539925240 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19071053 19071073 rs143092659 0 + ACTGTGTGTGTGTGTTTCAG ACTGTGTGTGTGTGTTTCAG -/ACTGTGTGTGTGTGTTTCAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown range 1 3 1000GENOMES,EVA_DECODE,LUNTER, 2 -,ACTGTGTGTGTGTGTTTCAG, 25.000000,4983.000000, 0.004992,0.995008, 730 chr21 19071055 19071055 rs547345397 0 + - - -/TG genomic insertion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown between 1 2 1000GENOMES,HAMMER_LAB, 2 -,TG, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19071076 19071077 rs190385488 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19071084 19071084 rs71333578 0 + - - -/T genomic insertion unknown 0.5 0 unknown between 1 1 HUMANGENOME_JCVI, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19071115 19071116 rs762863924 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071121 19071122 rs553544595 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19071146 19071147 rs751586139 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071177 19071178 rs556989347 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 730 chr21 19071189 19071190 rs760237326 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19071193 19071194 rs71319653 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown exact 1 17 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4038.000000,970.000000, 0.806310,0.193690, maf-5-some-pop,maf-5-all-pops 730 chr21 19071232 19071233 rs145857048 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19071271 19071272 rs71319654 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown exact 1 16 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4038.000000,970.000000, 0.806310,0.193690, maf-5-some-pop,maf-5-all-pops 730 chr21 19071276 19071277 rs572911093 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19071318 19071319 rs763267206 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19071342 19071343 rs796914015 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19071347 19071348 rs182836027 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19071371 19071372 rs564741158 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19071414 19071415 rs140936039 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.143959 0.226396 unknown exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 391.000000,4617.000000, 0.078075,0.921925, maf-5-some-pop 730 chr21 19071430 19071431 rs187735239 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19071436 19071437 rs143252637 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19071437 19071438 rs67019819 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown exact 1 17 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop,maf-5-all-pops 730 chr21 19071443 19071444 rs543831581 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19071473 19071474 rs374280225 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19071498 19071499 rs754135672 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071514 19071515 rs757683951 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071522 19071523 rs71333579 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.5 0 unknown exact 1 10 1000GENOMES,BGI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,SSMP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19071524 19071525 rs566815130 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19071526 19071527 rs527805454 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19071527 19071528 rs74195873 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.369142 0.219784 unknown exact 1 10 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,WEILL_CORNELL_DGM, 2 A,T, 1223.000000,3785.000000, 0.244209,0.755791, maf-5-some-pop 730 chr21 19071528 19071529 rs7275586 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.098085 0.198549 unknown exact 1 9 1000GENOMES,BCM_SSAHASNP,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,PJP,WEILL_CORNELL_DGM, 2 A,T, 4749.000000,259.000000, 0.948283,0.051717, maf-5-some-pop 730 chr21 19071528 19071528 rs200624714 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 730 chr21 19071536 19071537 rs538537319 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19071537 19071538 rs532796377 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19071539 19071540 rs758435001 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071553 19071554 rs767208608 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071564 19071565 rs55678575 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown exact 1 17 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop,maf-5-all-pops 730 chr21 19071574 19071575 rs559820879 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19071597 19071598 rs747178374 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071610 19071611 rs752658999 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19071630 19071631 rs568820226 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19071644 19071645 rs535838673 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19071666 19071667 rs148321202 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19071688 19071689 rs572804676 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19071692 19071693 rs115459695 0 + G G G/T genomic single by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 1 1000GENOMES, 2 G,T, 4949.000000,59.000000, 0.988219,0.011781, maf-5-some-pop 730 chr21 19071696 19071697 rs548783148 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071723 19071724 rs558320126 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19071726 19071727 rs576672923 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19071731 19071732 rs544077925 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19071774 19071775 rs7275866 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.112983 0.209108 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4707.000000,301.000000, 0.939896,0.060104, maf-5-some-pop 730 chr21 19071776 19071777 rs141490428 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19071798 19071799 rs527503689 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19071836 19071837 rs568631700 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19071844 19071844 rs755670553 0 + - - -/GAGCC genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071906 19071907 rs774380985 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19071922 19071923 rs376172835 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19071923 19071924 rs549620188 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19071932 19071933 rs7275632 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.11228 0.208646 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 299.000000,4709.000000, 0.059705,0.940296, maf-5-some-pop 730 chr21 19071956 19071957 rs185566078 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19071971 19071972 rs564380038 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19071988 19071989 rs13047147 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.312104 0.242163 unknown exact 1 20 1000GENOMES,ABI,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4039.000000,969.000000, 0.806510,0.193490, maf-5-some-pop,maf-5-all-pops 730 chr21 19071994 19071995 rs116778994 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19072028 19072029 rs564650813 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19072086 19072094 rs143214483 0 + CTGTGTAC CTGTGTAC -/CTGTGTAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.054725 0.156101 unknown range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,CTGTGTAC, 141.000000,4867.000000, 0.028155,0.971845, maf-5-some-pop 730 chr21 19072093 19072094 rs775149802 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19072094 19072095 rs867429109 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19072111 19072112 rs188540762 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19072112 19072113 rs551330830 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19072127 19072128 rs570851410 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19072159 19072160 rs147192419 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 730 chr21 19072162 19072163 rs13051537 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.309894 0.242719 unknown exact 1 21 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4048.000000,960.000000, 0.808307,0.191693, maf-5-some-pop,maf-5-all-pops 730 chr21 19072176 19072177 rs553455084 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19072209 19072210 rs75673417 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4905.000000,103.000000, 0.979433,0.020567, maf-5-some-pop 730 chr21 19072242 19072243 rs757741219 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19072250 19072251 rs765624593 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19072260 19072261 rs138781387 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19072262 19072263 rs566171483 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19072277 19072278 rs142811860 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19072281 19072282 rs558258530 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19072307 19072308 rs192151777 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19072324 19072325 rs564478530 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19072362 19072363 rs35133395 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.311369 0.242351 unknown exact 1 14 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop,maf-5-all-pops 730 chr21 19072364 19072365 rs397797882 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 3 ABI,GMI,HGSV, 0 730 chr21 19072378 19072379 rs73202664 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19072392 19072393 rs535259921 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19072441 19072442 rs147422779 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,GMI, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19072450 19072451 rs746475895 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19072465 19072466 rs139214196 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19072503 19072546 rs558124863 0 + TTCTGGTGGCCACTGCCAATGGAGAAGAGGCCACAGAATTCTG TTCTGGTGGCCACTGCCAATGGAGAAGAGGCCACAGAATTCTG lengthTooLong genomic in-del by-frequency,by-1000genomes 0.004781 0.048658 unknown range 1 ObservedTooLong 1 1000GENOMES, 2 -,TTCTGGTGGCCACTGCCAATGGAGAAGAGGCCACAGAATTCTG, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19072508 19072509 rs574596319 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19072509 19072510 rs184449193 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19072559 19072560 rs2824458 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.311369 0.242351 unknown exact 1 18 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop,maf-5-all-pops 730 chr21 19072577 19072578 rs373934409 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19072604 19072605 rs377037814 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19072623 19072624 rs2824459 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.311369 0.242351 unknown exact 1 22 1000GENOMES,AFFY,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop,maf-5-all-pops 730 chr21 19072650 19072651 rs62212889 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19072653 19072654 rs77028833 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19072653 19072654 rs528531474 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.329317 0.237084 unknown exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 1041.000000,3967.000000, 0.207867,0.792133, maf-5-some-pop,maf-5-all-pops 730 chr21 19072653 19072653 rs755488141 0 + - - -/TTTTTT genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 SSMP, 0 730 chr21 19072654 19072654 rs71333581 0 + - - -/T genomic insertion unknown 0.5 0 unknown between 1 1 HUMANGENOME_JCVI, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19072670 19072671 rs55797008 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19072673 19072674 rs75767558 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.290019 0.246776 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 295.000000,63.000000, 0.824022,0.175978, maf-5-some-pop,maf-5-all-pops 730 chr21 19072691 19072692 rs112064230 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.180702 0.240204 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4505.000000,503.000000, 0.899561,0.100439, maf-5-some-pop 730 chr21 19072692 19072693 rs539854186 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19072738 19072739 rs149873360 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 730 chr21 19072751 19072752 rs867981303 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19072775 19072776 rs531864231 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19072783 19072784 rs781247200 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19072801 19072802 rs796271885 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19072803 19072804 rs550060781 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19072843 19072844 rs1888403 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.311369 0.242351 unknown exact 1 17 1000GENOMES,ABI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop,maf-5-all-pops 730 chr21 19072852 19072853 rs148636671 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19072853 19072854 rs188467589 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19072871 19072872 rs59727012 0 + C C C/T genomic single by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 2 1000GENOMES,HGSV, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 730 chr21 19072881 19072882 rs181360457 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19072891 19072892 rs146697456 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 730 chr21 19072892 19072893 rs184445786 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19072895 19072896 rs376331337 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19072896 19072897 rs542386577 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19072900 19072901 rs759955070 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19072901 19072902 rs556078298 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19072924 19072925 rs140645820 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19072926 19072927 rs535367253 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19072929 19072930 rs144424480 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 730 chr21 19072974 19072975 rs772118830 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19072978 19072979 rs775630776 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19072991 19072992 rs151110812 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19073013 19073014 rs554911163 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 ILLUMINA, 0 730 chr21 19073032 19073033 rs1888404 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.31014 0.242659 unknown exact 1 26 1000GENOMES,ABI,AFFY,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4047.000000,961.000000, 0.808107,0.191893, maf-5-some-pop,maf-5-all-pops,genotype-conflict 730 chr21 19073033 19073034 rs533230755 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19073057 19073058 rs1888405 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.311369 0.242351 unknown exact 1 23 1000GENOMES,ABI,AFFY,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4042.000000,966.000000, 0.807109,0.192891, maf-5-some-pop,maf-5-all-pops,genotype-conflict 730 chr21 19073139 19073140 rs571163970 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19073187 19073187 rs56973473 0 + - - -/CT genomic insertion by-cluster,by-frequency,by-1000genomes 0.473359 0.112298 unknown between 1 16 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, 2 -,CT, 1926.000000,3082.000000, 0.384585,0.615415, maf-5-some-pop 730 chr21 19073188 19073188 rs374185061 0 + - - -/CT genomic insertion unknown 0 0 unknown between 1 2 BGI,PJP, 0 730 chr21 19073189 19073189 rs397728552 0 + - - -/CT genomic insertion by-cluster 0 0 unknown between 1 2 GMI,HGSV, 0 730 chr21 19073214 19073215 rs776110494 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19073217 19073218 rs761533334 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19073246 19073247 rs765530514 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19073247 19073248 rs535548528 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19073250 19073250 rs60334516 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.311369 0.242351 unknown between 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,TISHKOFF, 2 -,C, 4042.000000,966.000000, 0.807109,0.192891, maf-5-some-pop,maf-5-all-pops 730 chr21 19073252 19073252 rs397952437 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19073259 19073260 rs750774199 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19073280 19073281 rs543935161 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19073313 19073314 rs55664587 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.292266 0.246401 unknown exact 1 19 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 890.000000,4118.000000, 0.177716,0.822284, maf-5-some-pop,maf-5-all-pops 730 chr21 19073329 19073333 rs111651269 0 + ATCA ATCA -/ATCA genomic deletion by-cluster,by-frequency,by-1000genomes 0.217551 0.247885 unknown range 1 11 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,ATCA, 622.000000,4386.000000, 0.124201,0.875799, maf-5-some-pop 730 chr21 19073334 19073338 rs374301424 0 + TCAA TCAA -/TCAA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 730 chr21 19073354 19073355 rs35166466 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.311369 0.242351 unknown exact 1 20 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4042.000000,966.000000, 0.807109,0.192891, maf-5-some-pop,maf-5-all-pops 730 chr21 19073364 19073365 rs4416306 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.311369 0.242351 unknown exact 1 19 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop,maf-5-all-pops 730 chr21 19073448 19073449 rs559582261 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19073460 19073461 rs372440665 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19073469 19073470 rs375819710 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 730 chr21 19073479 19073480 rs2154675 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.311369 0.242351 unknown exact 1 22 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop,maf-5-all-pops 730 chr21 19073501 19073502 rs551707551 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19073507 19073508 rs570119728 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19073513 19073514 rs371978217 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19073519 19073520 rs376892507 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19073581 19073582 rs150191119 0 + T T C/T genomic single by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 1 1000GENOMES, 2 C,T, 51.000000,4957.000000, 0.010184,0.989816, 730 chr21 19073586 19073587 rs4568029 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 1 SC_JCM, 1 C, 4.000000, 1.000000, 730 chr21 19073597 19073598 rs549879310 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19073618 19073619 rs189221368 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19073642 19073643 rs535605906 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19073644 19073645 rs369474419 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19073674 19073675 rs756415792 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19073718 19073719 rs776736091 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19073739 19073740 rs141519897 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.13446 0.221699 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 363.000000,4645.000000, 0.072484,0.927516, maf-5-some-pop 730 chr21 19073771 19073772 rs745650101 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19073777 19073778 rs182209427 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19073802 19073803 rs867376572 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19073823 19073824 rs540761828 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19073857 19073858 rs558174255 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19073872 19073873 rs576429805 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19073886 19073887 rs114027020 0 + A A A/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 1 1000GENOMES, 2 A,T, 4986.000000,22.000000, 0.995607,0.004393, 730 chr21 19073890 19073891 rs111278528 0 + T T C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19073916 19073917 rs555862407 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19073929 19073930 rs187306043 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19073940 19073941 rs141549797 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,T, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 730 chr21 19074005 19074006 rs559520938 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074008 19074009 rs533520509 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074024 19074025 rs528907736 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19074027 19074028 rs548634645 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19074068 19074072 rs148290265 0 + TTAC TTAC -/TTAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 unknown range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TTAC, 71.000000,4937.000000, 0.014177,0.985823, 730 chr21 19074091 19074092 rs779809761 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074092 19074093 rs747001272 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074093 19074094 rs370090326 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19074097 19074098 rs767987001 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074098 19074099 rs190505739 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074107 19074108 rs113500010 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19074112 19074113 rs774017633 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074132 19074133 rs563719819 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19074140 19074141 rs531372628 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074154 19074155 rs181549868 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 0 730 chr21 19074173 19074174 rs549528974 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074187 19074188 rs769433116 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074198 19074199 rs568120996 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19074199 19074200 rs573589939 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074231 19074232 rs528985452 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074250 19074251 rs377733012 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 730 chr21 19074300 19074301 rs371441410 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19074305 19074306 rs147052185 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 730 chr21 19074311 19074312 rs4407335 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.312104 0.242163 unknown exact 1 16 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 969.000000,4039.000000, 0.193490,0.806510, maf-5-some-pop,maf-5-all-pops 730 chr21 19074324 19074325 rs55978334 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.312748 0.242383 unknown exact 1 SingleClassTriAllelic 15 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 C,G,T, 2.000000,969.000000,4037.000000, 0.000399,0.193490,0.806110, 730 chr21 19074325 19074326 rs537417594 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074330 19074331 rs555497010 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19074349 19074350 rs55897302 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.312104 0.242163 unknown exact 1 16 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 969.000000,4039.000000, 0.193490,0.806510, maf-5-some-pop,maf-5-all-pops 730 chr21 19074367 19074368 rs541134459 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19074373 19074373 rs769506093 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 730 chr21 19074377 19074378 rs146991995 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,C, 4924.000000,84.000000, 0.983227,0.016773, maf-5-some-pop 730 chr21 19074383 19074384 rs148057434 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19074385 19074386 rs752804908 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074429 19074430 rs564734325 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19074434 19074435 rs59484247 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.311859 0.242226 unknown exact 1 15 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 968.000000,4040.000000, 0.193291,0.806709, maf-5-some-pop,maf-5-all-pops 730 chr21 19074438 19074439 rs60924954 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.320814 0.239761 unknown exact 1 15 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4003.000000,1005.000000, 0.799321,0.200679, maf-5-some-pop,maf-5-all-pops 730 chr21 19074453 19074454 rs572565858 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,JMKIDD_LAB, 0 730 chr21 19074473 19074474 rs754140344 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074494 19074495 rs141811279 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19074514 19074515 rs60425040 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.311859 0.242226 unknown exact 1 16 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4040.000000,968.000000, 0.806709,0.193291, maf-5-some-pop,maf-5-all-pops 730 chr21 19074518 19074519 rs186269993 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074525 19074526 rs528973951 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074554 19074555 rs190205094 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19074592 19074593 rs779907109 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074609 19074610 rs183041950 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074631 19074645 rs368073826 0 + AGAGGTCAGGAGGT AGAGGTCAGGAGGT -/AGAGGTCAGGAGGT genomic deletion unknown 0 0 unknown range 1 1 LUNTER, 0 730 chr21 19074632 19074633 rs150589511 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19074643 19074644 rs187690673 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074683 19074684 rs13053100 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.311859 0.242226 unknown exact 1 22 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4040.000000,968.000000, 0.806709,0.193291, maf-5-some-pop,maf-5-all-pops 730 chr21 19074715 19074716 rs139440515 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19074749 19074750 rs549413143 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074778 19074779 rs567592071 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074797 19074798 rs190854726 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074798 19074799 rs553086589 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19074808 19074809 rs371448038 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19074855 19074856 rs537617631 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19074858 19074859 rs551186983 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19074863 19074864 rs141546814 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19074871 19074872 rs374678820 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19074873 19074874 rs371544628 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19074876 19074877 rs367604935 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19074880 19074881 rs769343034 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074884 19074885 rs538822453 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074885 19074886 rs557276128 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074900 19074901 rs575853720 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19074910 19074911 rs868507105 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19074920 19074921 rs13052913 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.435263 0.167862 unknown exact 1 23 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3405.000000,1603.000000, 0.679912,0.320088, maf-5-some-pop,maf-5-all-pops 730 chr21 19074924 19074925 rs11700944 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499527 0.015368 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2581.000000,2427.000000, 0.515375,0.484625, maf-5-some-pop,maf-5-all-pops 730 chr21 19074941 19074942 rs183907506 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_DECODE, 0 730 chr21 19074950 19074951 rs771132582 0 + C C C/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19074955 19074956 rs146204525 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19074957 19074958 rs13052147 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.311859 0.242226 unknown exact 1 20 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 968.000000,4040.000000, 0.193291,0.806709, maf-5-some-pop,maf-5-all-pops 730 chr21 19074971 19074972 rs768060239 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075007 19075008 rs573580454 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19075011 19075012 rs187696501 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001493 0.027284 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,4012.000000, 0.000747,0.999253, 730 chr21 19075012 19075013 rs35990915 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.318077 0.240553 unknown exact 1 DuplicateObserved 13 1000GENOMES,BGI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 993.000000,4012.000000, 0.198402,0.801598, maf-5-some-pop,maf-5-all-pops 730 chr21 19075012 19075012 rs112804628 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 DuplicateObserved,SingleAlleleFreq 1 BUSHMAN, 1 T, 2.000000, 1.000000, 730 chr21 19075020 19075021 rs397746980 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 3 ABI,GMI,HGSV, 0 730 chr21 19075059 19075060 rs533081239 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19075086 19075087 rs753180326 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075100 19075101 rs760791896 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19075101 19075102 rs7282560 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.217851 0.247924 unknown exact 1 17 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4385.000000,623.000000, 0.875599,0.124401, maf-5-some-pop 730 chr21 19075103 19075104 rs192610492 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19075165 19075166 rs184327750 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19075178 19075179 rs560086302 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19075195 19075196 rs530822640 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19075212 19075213 rs7277311 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.093417 0.194889 unknown exact 1 10 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4762.000000,246.000000, 0.950879,0.049121, maf-5-some-pop 730 chr21 19075215 19075216 rs757570070 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075229 19075230 rs765437669 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075233 19075234 rs112793838 0 + T T G/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19075235 19075236 rs376446910 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19075245 19075246 rs139230783 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 G,T, 31.000000,4977.000000, 0.006190,0.993810, 730 chr21 19075264 19075265 rs187518476 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19075310 19075311 rs867232870 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19075315 19075316 rs534666948 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19075352 19075353 rs7277048 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.218151 0.247963 unknown exact 1 18 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4384.000000,624.000000, 0.875399,0.124601, maf-5-some-pop 730 chr21 19075371 19075372 rs781167840 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075378 19075379 rs746361280 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19075417 19075418 rs116774805 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19075456 19075457 rs80247465 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 G,T, 52.000000,4956.000000, 0.010383,0.989617, maf-5-some-pop 730 chr21 19075461 19075462 rs191524606 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19075462 19075463 rs76019284 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 730 chr21 19075471 19075472 rs536929425 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19075511 19075512 rs554996217 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19075552 19075553 rs145375630 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19075626 19075627 rs564644951 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075627 19075628 rs148796800 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 730 chr21 19075705 19075706 rs775992319 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19075766 19075767 rs66460837 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.312104 0.242163 unknown exact 1 MixedObserved 14 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4039.000000,969.000000, 0.806510,0.193490, maf-5-some-pop,maf-5-all-pops 730 chr21 19075766 19075770 rs386816698 0 + CCTT CCTT CCTT/TCTC genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 730 chr21 19075769 19075770 rs7282053 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.432651 0.170701 unknown exact 1 20 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1585.000000,3423.000000, 0.316494,0.683506, maf-5-some-pop,maf-5-all-pops 730 chr21 19075774 19075775 rs7277655 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.180383 0.240111 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4506.000000,502.000000, 0.899760,0.100240, maf-5-some-pop 730 chr21 19075782 19075783 rs118172390 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4980.000000,28.000000, 0.994409,0.005591, 730 chr21 19075794 19075795 rs184793118 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 730 chr21 19075801 19075802 rs542825830 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19075836 19075842 rs760299239 0 + ATGTGT ATGTGT -/ATGTGT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075836 19075840 rs775234236 0 + ATGT ATGT -/ATGT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075837 19075839 rs10600041 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.420255 0.183066 unknown range 1 MixedObserved 1 1000GENOMES, 2 -,TG, 3504.000000,1504.000000, 0.699681,0.300319, maf-5-some-pop,maf-5-all-pops 730 chr21 19075837 19075841 rs67633081 0 + TGTG TGTG -/TG genomic deletion unknown 0 0 unknown range 1 MixedObserved,ObservedMismatch 5 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER,PJP, 0 730 chr21 19075837 19075843 rs142481552 0 + TGTGTG TGTGTG -/TGTGTG genomic deletion by-1000genomes 0 0 unknown range 1 MixedObserved 1 1000GENOMES, 0 730 chr21 19075837 19075847 rs373144354 0 + TGTGTGTGTG TGTGTGTGTG -/TGTGTGTGTG genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 LUNTER, 0 730 chr21 19075839 19075841 rs764013878 0 + TG TG -/TG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19075867 19075868 rs368711317 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 LUNTER, 0 730 chr21 19075875 19075879 rs60070339 0 + TGTG TGTG -/TGTG genomic deletion by-cluster 0 0 unknown range 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 730 chr21 19075877 19075878 rs28787021 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 SSAHASNP, 0 730 chr21 19075877 19075879 rs59267587 0 + TG TG -/TG genomic deletion unknown 0 0 unknown range 1 MixedObserved 2 ABI,HGSV, 0 730 chr21 19075879 19075880 rs868639116 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19075894 19075895 rs28791267 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19075895 19075896 rs569060037 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19075904 19075905 rs151329066 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 730 chr21 19075920 19075921 rs747382491 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19075957 19075958 rs9977078 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.216048 0.247684 unknown exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4391.000000,617.000000, 0.876797,0.123203, maf-5-some-pop 730 chr21 19075958 19075959 rs147042740 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19075965 19075966 rs777016057 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19076016 19076017 rs147688690 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19076031 19076032 rs370862842 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,G, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 730 chr21 19076033 19076034 rs78966639 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,G, 4956.000000,52.000000, 0.989617,0.010383, maf-5-some-pop 730 chr21 19076046 19076047 rs569416572 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19076047 19076048 rs536409956 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19076059 19076060 rs150348592 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19076078 19076079 rs866101756 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19076130 19076131 rs7281808 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.008747 0.065553 unknown exact 1 2 1000GENOMES,BCM_SSAHASNP, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 730 chr21 19076131 19076132 rs2132081 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.474182 0.110646 unknown exact 1 22 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1935.000000,3073.000000, 0.386382,0.613618, maf-5-some-pop 730 chr21 19076135 19076136 rs113842519 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 80.000000,4928.000000, 0.015974,0.984026, 730 chr21 19076140 19076141 rs577757184 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19076156 19076157 rs545064688 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076167 19076168 rs556749274 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19076168 19076169 rs71319655 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.310878 0.242475 unknown exact 1 11 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4044.000000,964.000000, 0.807508,0.192492, maf-5-some-pop,maf-5-all-pops 730 chr21 19076177 19076178 rs71319656 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.309894 0.242719 unknown exact 1 9 1000GENOMES,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI, 2 C,T, 4048.000000,960.000000, 0.808307,0.191693, maf-5-some-pop,maf-5-all-pops 730 chr21 19076178 19076179 rs560760615 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076179 19076180 rs528361206 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19076180 19076181 rs71319657 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.310878 0.242475 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 964.000000,4044.000000, 0.192492,0.807508, maf-5-some-pop,maf-5-all-pops 730 chr21 19076183 19076184 rs2172805 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.473359 0.112298 unknown exact 1 24 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SC_SNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3082.000000,1926.000000, 0.615415,0.384585, maf-5-some-pop 730 chr21 19076184 19076185 rs532434733 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076211 19076212 rs757709814 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076238 19076239 rs550966850 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076297 19076298 rs4818380 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.005972 0.054319 unknown exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19076308 19076309 rs184620392 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19076335 19076336 rs116479136 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19076345 19076346 rs750845807 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076362 19076363 rs767246765 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076369 19076370 rs752562088 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076375 19076376 rs189385064 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076397 19076398 rs777742251 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076417 19076418 rs748789838 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076433 19076434 rs542443917 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19076434 19076435 rs756753761 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076445 19076446 rs71333584 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0.375 0.216506 unknown exact 1 3 1000GENOMES,BUSHMAN,HUMANGENOME_JCVI, 2 -,A, 3.000000,1.000000, 0.750000,0.250000, 730 chr21 19076446 19076447 rs2039247 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.484841 0.085731 unknown exact 1 MixedObserved 19 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2068.000000,2940.000000, 0.412939,0.587061, maf-5-some-pop 730 chr21 19076446 19076447 rs373383280 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 730 chr21 19076446 19076449 rs386816699 0 + AGG AGG AGG/GGC genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19076448 19076449 rs2039248 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.484841 0.085731 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2940.000000,2068.000000, 0.587061,0.412939, maf-5-some-pop 730 chr21 19076449 19076449 rs201108466 0 + - - -/C genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 730 chr21 19076450 19076451 rs571178474 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19076450 19076450 rs34941929 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 730 chr21 19076462 19076463 rs74688061 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19076468 19076474 rs758742772 0 + TGGACA TGGACA -/TGGACA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076472 19076473 rs73202683 0 + C C C/T genomic single by-cluster,by-1000genomes 0.5 0 unknown exact 1 3 1000GENOMES,BUSHMAN,GMI, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19076487 19076488 rs117165325 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19076492 19076493 rs542555134 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19076554 19076555 rs182048874 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19076556 19076557 rs575211727 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19076566 19076567 rs754785578 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19076585 19076586 rs529115773 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19076589 19076590 rs4496392 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.312593 0.242037 unknown exact 1 20 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4037.000000,971.000000, 0.806110,0.193890, maf-5-some-pop,maf-5-all-pops 730 chr21 19076591 19076595 rs747266718 0 + CAGA CAGA -/CAGA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076622 19076623 rs185930493 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19076626 19076627 rs116740803 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19076627 19076628 rs564802630 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076629 19076630 rs577088122 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19076709 19076710 rs544233636 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19076727 19076728 rs4491798 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.312348 0.242101 unknown exact 1 21 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop,maf-5-all-pops 730 chr21 19076729 19076730 rs11910521 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.212122 0.247114 unknown exact 1 18 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4404.000000,604.000000, 0.879393,0.120607, maf-5-some-pop 730 chr21 19076732 19076733 rs769283510 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076779 19076780 rs4536739 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.312348 0.242101 unknown exact 1 21 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop,maf-5-all-pops 730 chr21 19076796 19076797 rs761931571 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076829 19076830 rs9982948 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 ILLUMINA,WUGSC_SSAHASNP, 1 T, 4.000000, 1.000000, 730 chr21 19076875 19076876 rs765256564 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19076876 19076877 rs560646055 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19076897 19076898 rs527920640 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076910 19076911 rs189080973 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19076920 19076921 rs543990053 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19076925 19076926 rs181175444 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19076969 19076970 rs550299905 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19076971 19076972 rs113189484 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19076977 19076978 rs35142881 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown exact 1 20 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4038.000000,970.000000, 0.806310,0.193690, maf-5-some-pop,maf-5-all-pops 730 chr21 19077003 19077004 rs554413590 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077018 19077019 rs866533338 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19077047 19077048 rs13047318 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.312348 0.242101 unknown exact 1 21 1000GENOMES,ABI,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4038.000000,970.000000, 0.806310,0.193690, maf-5-some-pop,maf-5-all-pops 730 chr21 19077068 19077069 rs780763801 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19077072 19077073 rs186393073 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19077102 19077103 rs866077658 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19077105 19077106 rs35610278 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 10 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,PJP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19077106 19077107 rs558334146 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19077107 19077108 rs577023517 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19077114 19077115 rs548851598 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19077144 19077145 rs568782283 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19077217 19077218 rs760527037 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077229 19077230 rs748188406 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077230 19077231 rs763985405 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077237 19077238 rs528514816 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19077238 19077239 rs8128266 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,WI_SSAHASNP, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19077259 19077260 rs753764311 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077288 19077289 rs369128319 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19077306 19077307 rs8129323 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.163892 0.234703 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 4557.000000,451.000000, 0.909944,0.090056, maf-5-some-pop 730 chr21 19077332 19077333 rs201493777 0 + A A A/C/G genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 GMI,WEILL_CORNELL_DGM, 0 730 chr21 19077366 19077367 rs146192863 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19077367 19077368 rs117261825 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.13446 0.221699 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 363.000000,4645.000000, 0.072484,0.927516, maf-5-some-pop 730 chr21 19077374 19077375 rs552766485 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19077393 19077394 rs564745018 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19077395 19077396 rs73310290 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,HAMMER_LAB, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19077396 19077397 rs78490037 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4957.000000,51.000000, 0.989816,0.010184, 730 chr21 19077445 19077446 rs369640075 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19077449 19077450 rs2101805 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.429688 0.173817 unknown exact 1 23 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1565.000000,3443.000000, 0.312500,0.687500, maf-5-some-pop,maf-5-all-pops 730 chr21 19077453 19077454 rs866102614 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19077480 19077481 rs779922867 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077482 19077483 rs535813385 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19077487 19077488 rs547802843 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19077513 19077514 rs566182049 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19077547 19077548 rs533650459 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4975.000000,33.000000, 0.993411,0.006589, 730 chr21 19077565 19077566 rs68056272 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.312348 0.242101 unknown exact 1 18 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop,maf-5-all-pops 730 chr21 19077573 19077574 rs769193741 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077574 19077575 rs531505695 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19077575 19077576 rs570669531 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19077593 19077594 rs537724944 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19077596 19077597 rs11702466 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.164219 0.234823 unknown exact 1 16 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4556.000000,452.000000, 0.909744,0.090256, maf-5-some-pop 730 chr21 19077603 19077604 rs139190763 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19077607 19077608 rs13049501 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.315273 0.241329 unknown exact 1 20 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 982.000000,4026.000000, 0.196086,0.803914, maf-5-some-pop,maf-5-all-pops 730 chr21 19077618 19077619 rs2088116 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.472429 0.114129 unknown exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1916.000000,3092.000000, 0.382588,0.617412, maf-5-some-pop 730 chr21 19077630 19077631 rs572565644 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19077656 19077657 rs182475449 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19077772 19077773 rs773177123 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19077801 19077802 rs185262929 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19077805 19077806 rs531968125 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19077811 19077812 rs142505808 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19077823 19077824 rs150537270 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19077835 19077836 rs866892683 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19077885 19077886 rs11911530 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.110872 0.20771 unknown exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4713.000000,295.000000, 0.941094,0.058906, maf-5-some-pop 730 chr21 19077903 19077904 rs149829820 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 730 chr21 19077912 19077913 rs867367575 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19077919 19077920 rs117486626 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.135484 0.22223 unknown exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4642.000000,366.000000, 0.926917,0.073083, maf-5-some-pop 730 chr21 19077943 19077943 rs142489980 0 + - - -/GAGCCTGCCCA genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19077945 19077946 rs527379529 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19077951 19077951 rs141755579 0 + - - -/CAGAGCCTGCC genomic insertion by-cluster,by-frequency,by-1000genomes 0.309154 0.242901 unknown between 1 8 1000GENOMES,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,CAGAGCCTGCC, 4051.000000,957.000000, 0.808906,0.191094, maf-5-some-pop,maf-5-all-pops 730 chr21 19077953 19077954 rs75481331 0 + A A A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BGI, 0 730 chr21 19077953 19077953 rs59437562 0 + - - -/GAGCCTGCCCA genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 3 HGSV,HUMANGENOME_JCVI,TISHKOFF, 1 GAGCCTGCCCA, 2.000000, 1.000000, 730 chr21 19077976 19077977 rs552274596 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19077991 19077992 rs753375153 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19077997 19077998 rs570536197 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19078017 19078017 rs536884450 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,A, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19078021 19078022 rs763895433 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078023 19078023 rs199689180 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 730 chr21 19078055 19078058 rs759452287 0 + AAG AAG -/AAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078123 19078124 rs538009322 0 + A A A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19078133 19078134 rs556090427 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19078155 19078155 rs539239117 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.046395 0.145069 unknown between 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,SSMP, 2 -,A, 4889.000000,119.000000, 0.976238,0.023762, maf-5-some-pop 730 chr21 19078156 19078156 rs367867473 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 730 chr21 19078242 19078243 rs753746791 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078247 19078248 rs529535420 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19078251 19078252 rs761674501 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078265 19078266 rs765279669 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078275 19078276 rs550920848 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19078287 19078288 rs568323026 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19078313 19078314 rs749900122 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078327 19078328 rs535792468 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19078333 19078334 rs145852441 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,C, 31.000000,4977.000000, 0.006190,0.993810, 730 chr21 19078360 19078361 rs572502145 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19078393 19078394 rs368067937 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19078415 19078416 rs756766054 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19078429 19078430 rs779832885 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078469 19078470 rs140225513 0 + A A A/G genomic single by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 1 1000GENOMES, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 730 chr21 19078497 19078498 rs751279062 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078520 19078521 rs755355481 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078541 19078542 rs576484360 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19078544 19078545 rs571258823 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19078553 19078554 rs77532844 0 - G G C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19078602 19078603 rs370918070 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19078632 19078633 rs533644876 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,PADH-LAB_SPU,SSIP, 2 G,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19078638 19078639 rs529533155 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19078667 19078668 rs9980843 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.207559 0.246371 unknown exact 1 16 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4419.000000,589.000000, 0.882388,0.117612, maf-5-some-pop 730 chr21 19078668 19078669 rs559695063 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19078670 19078671 rs370399712 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19078683 19078684 rs749293261 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078705 19078706 rs565797521 0 + A A A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078706 19078707 rs551899455 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19078719 19078720 rs570497330 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19078759 19078760 rs200909480 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19078766 19078767 rs549940795 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19078777 19078778 rs746116352 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078794 19078795 rs117415896 0 + T T C/T genomic single by-1000genomes 0.016528 0.089391 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,119.000000, 0.008333,0.991667, 730 chr21 19078796 19078797 rs768386102 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078836 19078837 rs752071772 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19078871 19078872 rs80028028 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 52.000000,4956.000000, 0.010383,0.989617, maf-5-some-pop 730 chr21 19078929 19078930 rs761737518 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19078955 19078956 rs765058347 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079003 19079004 rs771959683 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079033 19079034 rs147679163 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19079035 19079036 rs142343167 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19079053 19079054 rs565996431 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19079074 19079075 rs773251626 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079102 19079103 rs534376599 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19079109 19079110 rs760425717 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079217 19079218 rs554052047 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19079248 19079249 rs190864242 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19079257 19079258 rs34945740 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.318656 0.240388 unknown exact 1 15 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 996.000000,4012.000000, 0.198882,0.801118, maf-5-some-pop,maf-5-all-pops 730 chr21 19079260 19079261 rs397706549 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 730 chr21 19079283 19079284 rs571593900 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19079284 19079285 rs576440314 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19079311 19079312 rs766018280 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079314 19079315 rs866478685 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19079316 19079317 rs751191121 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079339 19079340 rs537188745 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19079362 19079363 rs542945178 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19079378 19079379 rs372885187 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19079395 19079396 rs142303666 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 730 chr21 19079412 19079413 rs767258299 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079457 19079458 rs752998305 0 + G G A/C/G genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079481 19079482 rs183283017 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19079496 19079497 rs756539037 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079537 19079538 rs778117621 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079548 19079549 rs151278179 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19079560 19079561 rs559582245 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19079586 19079587 rs556489041 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19079624 19079625 rs575984257 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19079663 19079664 rs777910748 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19079665 19079666 rs577936897 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19079676 19079677 rs545012613 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19079687 19079688 rs7275391 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.472896 0.113214 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3087.000000,1921.000000, 0.616414,0.383586, maf-5-some-pop 730 chr21 19079718 19079718 rs761375496 0 + - - -/GACCAT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079724 19079725 rs563968645 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19079783 19079784 rs117517216 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,WEILL_CORNELL_DGM, 2 A,G, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19079785 19079786 rs4547614 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.136166 0.22258 unknown exact 1 12 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 368.000000,4640.000000, 0.073482,0.926518, maf-5-some-pop 730 chr21 19079810 19079811 rs561849634 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19079855 19079856 rs187222781 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19079858 19079859 rs547636357 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19079859 19079860 rs565935434 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19079905 19079906 rs8131324 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.318174 0.240525 unknown exact 1 22 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4014.000000,994.000000, 0.801518,0.198482, maf-5-some-pop,maf-5-all-pops 730 chr21 19079939 19079940 rs775351707 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19079944 19079945 rs551741987 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19079963 19079964 rs8130515 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.311123 0.242413 unknown exact 1 21 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 965.000000,4043.000000, 0.192692,0.807308, maf-5-some-pop,maf-5-all-pops 730 chr21 19079985 19079986 rs192947049 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19079987 19079988 rs569968260 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19079988 19079989 rs747874187 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19079992 19079993 rs865820226 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19079994 19079995 rs183137365 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19080010 19080011 rs187922108 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 730 chr21 19080049 19080050 rs375984958 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19080052 19080053 rs534858759 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080066 19080067 rs150147927 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,C, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19080128 19080129 rs772985174 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19080144 19080145 rs79509309 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 52.000000,4956.000000, 0.010383,0.989617, maf-5-some-pop 730 chr21 19080179 19080180 rs140448583 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19080222 19080223 rs564089500 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080231 19080232 rs118078458 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.137867 0.223442 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4635.000000,373.000000, 0.925519,0.074481, maf-5-some-pop 730 chr21 19080354 19080355 rs192971343 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19080369 19080373 rs552225706 0 + TGAT TGAT -/TGAT genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 730 chr21 19080372 19080373 rs183744109 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19080456 19080457 rs28864730 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.398894 0.200825 unknown exact 1 MixedObserved 14 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3630.000000,1378.000000, 0.724840,0.275160, maf-5-some-pop,maf-5-all-pops 730 chr21 19080456 19080457 rs71311046 0 + C C CCCTCCCC/TCCTCCCCGCT genomic in-del unknown 0.5 0 unknown rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,ObservedMismatch 1 HUMANGENOME_JCVI, 2 CCCTCCCC,TCCTCCCCGCT, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19080459 19080460 rs867737412 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19080460 19080460 rs766465767 0 + - - -/C/CC/CCC genomic insertion by-cluster 0 0 unknown between 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 rs-cluster-nonoverlapping-alleles 730 chr21 19080461 19080461 rs386394348 0 + - - -/CC genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19080463 19080463 rs200509219 0 + - - -/CG genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 730 chr21 19080464 19080464 rs61455858 0 + - - -/GC/GCT genomic insertion by-cluster,by-frequency,by-1000genomes 0.498459 0.027713 unknown between 1 InconsistentAlleles 12 1000GENOMES,BUSHMAN,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,LUNTER,SSMP,TISHKOFF, 2 -,GCT, 2643.000000,2365.000000, 0.527756,0.472244, maf-5-some-pop,maf-5-all-pops 730 chr21 19080466 19080467 rs529003846 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19080468 19080468 rs56069756 0 + - - -/CC genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19080484 19080485 rs764789708 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19080492 19080493 rs541188260 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080493 19080494 rs7275737 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.399611 0.200291 unknown exact 1 19 1000GENOMES,BCM_SSAHASNP,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 1382.000000,3626.000000, 0.275958,0.724042, maf-5-some-pop,maf-5-all-pops 730 chr21 19080498 19080499 rs533250050 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19080508 19080509 rs551412673 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080524 19080525 rs567759038 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19080534 19080535 rs570017392 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19080538 19080539 rs530778010 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19080591 19080592 rs58427865 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,HGSV,WEILL_CORNELL_DGM, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19080597 19080598 rs536859455 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19080598 19080599 rs192355617 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19080609 19080610 rs114739350 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 730 chr21 19080617 19080618 rs759183598 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19080626 19080627 rs767046089 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19080628 19080629 rs752439053 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19080635 19080636 rs184999861 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080670 19080671 rs547495691 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 C,G, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19080673 19080674 rs539304196 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080709 19080710 rs557339911 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19080715 19080716 rs867484409 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19080727 19080728 rs764548825 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19080737 19080738 rs575918422 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080744 19080745 rs145241062 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19080773 19080774 rs555412730 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080787 19080788 rs7276728 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.472709 0.11358 unknown exact 1 25 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1919.000000,3089.000000, 0.383187,0.616813, maf-5-some-pop 730 chr21 19080790 19080791 rs541172054 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19080791 19080796 rs377260534 0 + GGCAA GGCAA -/GGCAA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 LUNTER, 0 730 chr21 19080791 19080792 rs377740709 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 SSMP, 0 730 chr21 19080795 19080796 rs559475342 0 + A A A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19080814 19080815 rs533012073 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19080818 19080819 rs137858721 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19080864 19080865 rs574248291 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080881 19080882 rs530835608 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19080889 19080890 rs112684786 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 2 BCM-HGSC-SUB,GMI, 0 730 chr21 19080890 19080890 rs35450358 0 + - - -/C genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 15 1000GENOMES,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19080891 19080892 rs200867924 0 + A A A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 730 chr21 19080891 19080891 rs397751679 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 MixedObserved 2 ABI,HGSV, 0 730 chr21 19080897 19080898 rs548923846 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19080917 19080918 rs567370063 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080920 19080921 rs188924754 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19080938 19080939 rs370270018 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19080940 19080941 rs546723667 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19080949 19080950 rs76759892 0 + G G A/G genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 A, 2.000000, 1.000000, 730 chr21 19080951 19080952 rs757751627 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19080952 19080953 rs66474121 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.297128 0.245518 unknown exact 1 19 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4099.000000,909.000000, 0.818490,0.181510, maf-5-some-pop,maf-5-all-pops 730 chr21 19080953 19080954 rs745920697 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19080954 19080955 rs566934363 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19081029 19081030 rs377078532 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19081048 19081049 rs73202698 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 103.000000,4905.000000, 0.020567,0.979433, maf-5-some-pop 730 chr21 19081061 19081062 rs149460641 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19081066 19081067 rs536987465 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19081102 19081103 rs778234779 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19081116 19081117 rs553204098 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 -,A, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19081142 19081143 rs199502037 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 730 chr21 19081142 19081142 rs572435875 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 EVA-GONL, 0 730 chr21 19081226 19081227 rs143931344 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 730 chr21 19081229 19081230 rs573705336 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19081238 19081239 rs541108717 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19081239 19081240 rs749424970 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19081271 19081272 rs747287275 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081272 19081273 rs565262810 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19081274 19081275 rs116742107 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19081300 19081301 rs769409886 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081301 19081302 rs777638756 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081323 19081324 rs577688716 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19081340 19081341 rs148226725 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19081376 19081377 rs770986465 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081389 19081390 rs771157045 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19081391 19081392 rs141511773 0 + G G C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19081430 19081431 rs774469288 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081461 19081462 rs541156710 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081487 19081488 rs575180515 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19081557 19081558 rs140184047 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,GMI, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19081578 19081579 rs561478759 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081618 19081619 rs12627226 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392881 0.205147 unknown exact 1 21 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1345.000000,3663.000000, 0.268570,0.731430, maf-5-some-pop,maf-5-all-pops 730 chr21 19081625 19081626 rs746015763 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19081638 19081639 rs528434397 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19081671 19081672 rs760376407 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081703 19081704 rs546997227 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19081704 19081705 rs12626851 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.389903 0.207189 unknown exact 1 23 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3679.000000,1329.000000, 0.734625,0.265375, maf-5-some-pop,maf-5-all-pops 730 chr21 19081705 19081706 rs370788190 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19081738 19081739 rs563548441 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19081751 19081752 rs569479345 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19081779 19081780 rs536921925 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19081780 19081781 rs866073186 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19081798 19081799 rs548931375 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19081850 19081851 rs374450136 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19081889 19081890 rs181669208 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19081890 19081891 rs762209723 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081919 19081920 rs532426397 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19081938 19081939 rs368662003 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19081967 19081968 rs2154673 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.134119 0.221521 unknown exact 1 16 1000GENOMES,AFFY,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4646.000000,362.000000, 0.927716,0.072284, maf-5-some-pop 730 chr21 19081974 19081975 rs577624583 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19081979 19081980 rs538765253 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19082011 19082012 rs556857646 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19082038 19082039 rs575131175 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082046 19082047 rs2105512 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.452473 0.146644 unknown exact 1 27 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3276.000000,1732.000000, 0.654153,0.345847, maf-5-some-pop,maf-5-all-pops 730 chr21 19082063 19082063 rs764007465 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 730 chr21 19082101 19082102 rs187074895 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082182 19082183 rs572807803 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19082189 19082190 rs540225354 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19082207 19082208 rs189550673 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19082216 19082217 rs147327908 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19082226 19082227 rs78888865 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19082236 19082237 rs181576663 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082248 19082249 rs530280556 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082257 19082258 rs548821743 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19082270 19082271 rs567121796 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19082307 19082308 rs780188421 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19082329 19082330 rs184927901 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19082380 19082381 rs751675563 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19082405 19082406 rs866008024 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19082408 19082409 rs755213171 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19082412 19082413 rs140676835 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19082418 19082419 rs189735656 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082450 19082451 rs149777460 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082466 19082467 rs114856219 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19082496 19082497 rs528138317 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19082528 19082529 rs575017516 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082606 19082607 rs535997725 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082649 19082650 rs2096555 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.137867 0.223442 unknown exact 1 16 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 373.000000,4635.000000, 0.074481,0.925519, maf-5-some-pop 730 chr21 19082655 19082656 rs572793758 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19082661 19082662 rs540569390 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082689 19082690 rs145749659 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19082699 19082700 rs371647837 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19082723 19082724 rs745844136 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19082724 19082725 rs76975740 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19082764 19082765 rs28802576 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.472616 0.113763 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3090.000000,1918.000000, 0.617013,0.382987, maf-5-some-pop 730 chr21 19082785 19082786 rs376821193 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19082790 19082791 rs775075371 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19082841 19082842 rs28776501 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.452473 0.146644 unknown exact 1 21 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1732.000000,3276.000000, 0.345847,0.654153, maf-5-some-pop,maf-5-all-pops 730 chr21 19082857 19082858 rs749945710 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19082863 19082864 rs55829008 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.318174 0.240525 unknown exact 1 18 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 994.000000,4014.000000, 0.198482,0.801518, maf-5-some-pop,maf-5-all-pops 730 chr21 19082872 19082873 rs776318862 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19082895 19082896 rs569940932 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19082901 19082902 rs536015852 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,DDI,SSIP, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19082910 19082911 rs527973748 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19082913 19082914 rs76851992 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF, 2 C,T, 4954.000000,54.000000, 0.989217,0.010783, 730 chr21 19082920 19082921 rs116393154 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19082928 19082942 rs769892538 0 + TTCTGGGCTCTCTA TTCTGGGCTCTCTA -/TTCTGGGCTCTCTA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19082930 19082931 rs183154397 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19082957 19082958 rs186332588 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19082993 19082994 rs753108835 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19083029 19083030 rs192444009 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19083075 19083076 rs13048900 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.317933 0.240593 unknown exact 1 21 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4015.000000,993.000000, 0.801717,0.198283, maf-5-some-pop,maf-5-all-pops 730 chr21 19083163 19083164 rs763531251 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083175 19083176 rs535985395 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19083193 19083194 rs572346061 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19083201 19083202 rs566359675 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19083289 19083290 rs116788028 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 G,T, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19083292 19083292 rs34865948 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19083301 19083302 rs558780039 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19083303 19083304 rs577082381 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19083336 19083338 rs545531875 0 + AC AC -/AC genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown range 1 1 1000GENOMES, 2 -,AC, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19083338 19083339 rs35432628 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 3 GMI,HAMMER_LAB,SSMP, 0 730 chr21 19083338 19083340 rs370271047 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 BILGI_BIOE, 0 730 chr21 19083338 19083338 rs530954687 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.089446 0.191631 unknown between 1 MixedObserved 1 1000GENOMES, 2 -,T, 4773.000000,235.000000, 0.953075,0.046925, maf-5-some-pop 730 chr21 19083352 19083353 rs397730968 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 730 chr21 19083356 19083357 rs544545951 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19083377 19083377 rs561665211 0 + - - -/GCCAAAAG genomic insertion by-frequency,by-1000genomes 0.004781 0.048658 unknown between 1 1 1000GENOMES, 2 -,GCCAAAAG, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19083394 19083395 rs76374007 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4954.000000,54.000000, 0.989217,0.010783, maf-5-some-pop 730 chr21 19083422 19083423 rs188850010 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19083446 19083447 rs781542363 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083477 19083477 rs781058790 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083517 19083518 rs192553117 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19083518 19083519 rs554724571 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19083528 19083529 rs533915635 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19083563 19083564 rs752989694 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083620 19083621 rs182686790 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19083657 19083658 rs757073711 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083668 19083669 rs778852660 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083687 19083688 rs527854095 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19083711 19083712 rs758354340 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083743 19083744 rs546103428 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19083745 19083746 rs574891130 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083768 19083769 rs145519111 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,C, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19083779 19083780 rs746510280 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083805 19083806 rs543962991 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19083861 19083861 rs532541090 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19083885 19083886 rs186676634 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19083887 19083888 rs138143651 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19083893 19083894 rs563458515 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19083929 19083930 rs191489511 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19083930 19083931 rs56118623 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.319136 0.24025 unknown exact 1 17 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 998.000000,4010.000000, 0.199281,0.800719, maf-5-some-pop,maf-5-all-pops 730 chr21 19083937 19083938 rs140679774 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19083970 19083971 rs183903550 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19083988 19083989 rs56245816 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.343254 0.231956 unknown exact 1 18 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1102.000000,3906.000000, 0.220048,0.779952, maf-5-some-pop,maf-5-all-pops 730 chr21 19083990 19083991 rs558473401 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19084106 19084107 rs13052980 0 + G G A/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP, 0 730 chr21 19084114 19084115 rs570685526 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19084127 19084128 rs773613772 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084147 19084148 rs150096033 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19084205 19084206 rs556593679 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19084212 19084213 rs574914115 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19084224 19084225 rs188679054 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,C, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 730 chr21 19084232 19084233 rs193297721 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19084289 19084290 rs565446705 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19084321 19084322 rs138438503 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19084324 19084325 rs766876172 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084351 19084352 rs774769093 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084370 19084371 rs759610411 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084383 19084384 rs767733900 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084387 19084388 rs556020431 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19084397 19084398 rs564567163 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19084410 19084411 rs185138413 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19084414 19084415 rs543736966 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19084418 19084419 rs58120347 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 unknown exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4764.000000,244.000000, 0.951278,0.048722, maf-5-some-pop 730 chr21 19084473 19084474 rs529605669 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19084485 19084486 rs547802749 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19084500 19084501 rs375987797 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19084554 19084555 rs376409945 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19084570 19084571 rs149282939 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19084571 19084572 rs764466528 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084576 19084577 rs552338513 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19084586 19084587 rs2897192 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.318656 0.240388 unknown exact 1 21 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4012.000000,996.000000, 0.801118,0.198882, maf-5-some-pop,maf-5-all-pops 730 chr21 19084612 19084613 rs147378747 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19084641 19084642 rs867609102 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19084642 19084643 rs550067281 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19084663 19084664 rs190284780 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19084664 19084665 rs779997088 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084680 19084681 rs111434851 0 + C C A/C genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19084685 19084686 rs746954791 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19084698 19084699 rs181114825 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19084700 19084701 rs535802714 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19084751 19084752 rs796593036 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19084781 19084782 rs553889210 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19084799 19084800 rs73310299 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.245346 0.249957 unknown exact 1 17 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 717.000000,4291.000000, 0.143171,0.856829, maf-5-some-pop 730 chr21 19084805 19084806 rs377405954 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19084824 19084825 rs62212910 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 730 chr21 19084857 19084858 rs796219534 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19084867 19084868 rs184079581 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19084874 19084875 rs375617693 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19084988 19084989 rs780212832 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19084995 19084999 rs201733786 0 + ACTT ACTT -/ACTT genomic deletion unknown 0 0 unknown range 1 1 GMI, 0 730 chr21 19084998 19084999 rs747716364 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085034 19085035 rs769433328 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085053 19085054 rs375429260 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19085101 19085102 rs746870958 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19085105 19085105 rs34196466 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19085111 19085112 rs777386882 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085147 19085148 rs188015547 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19085183 19085184 rs368820422 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19085184 19085185 rs573995326 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19085185 19085186 rs541381885 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19085241 19085242 rs550292746 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19085246 19085247 rs546715438 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19085251 19085252 rs76770384 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.141596 0.225274 unknown exact 1 12 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 384.000000,4624.000000, 0.076677,0.923323, maf-5-some-pop 730 chr21 19085259 19085260 rs771222614 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085264 19085265 rs113945552 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 SingleAlleleFreq 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 1 -, 2.000000, 1.000000, 730 chr21 19085272 19085273 rs774880953 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085274 19085275 rs760121331 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085299 19085300 rs527377008 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19085315 19085316 rs767644303 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085317 19085318 rs117972492 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 C,G, 20.000000,4988.000000, 0.003994,0.996006, 730 chr21 19085344 19085345 rs375438646 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19085357 19085358 rs775695788 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085373 19085374 rs180784307 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19085384 19085385 rs138443415 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19085385 19085386 rs144006844 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19085427 19085428 rs568321018 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19085442 19085443 rs535789983 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19085470 19085471 rs547769532 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19085515 19085516 rs73310300 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.100588 0.200439 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4742.000000,266.000000, 0.946885,0.053115, maf-5-some-pop 730 chr21 19085535 19085536 rs754033647 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085570 19085571 rs2897193 0 + G G G/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19085591 19085592 rs34253090 0 + C C -/C genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 MixedObserved 18 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19085591 19085592 rs111427850 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 MixedObserved 2 BCM-HGSC-SUB,GMI, 0 730 chr21 19085592 19085593 rs796584731 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19085639 19085640 rs773043920 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19085672 19085673 rs766092330 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085681 19085682 rs147318125 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 unknown exact 1 5 1000GENOMES,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4959.000000,49.000000, 0.990216,0.009784, 730 chr21 19085682 19085683 rs369861450 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19085690 19085691 rs566371430 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19085707 19085708 rs185188924 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19085713 19085714 rs148804568 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19085722 19085723 rs754897859 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085739 19085740 rs555547474 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19085742 19085743 rs12329812 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.118933 0.212888 unknown exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 318.000000,4690.000000, 0.063498,0.936502, maf-5-some-pop 730 chr21 19085758 19085759 rs752169676 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085762 19085763 rs755668869 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085804 19085805 rs765761162 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19085859 19085860 rs141406207 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19085865 19085866 rs12626988 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.321292 0.23962 unknown exact 1 20 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1007.000000,4001.000000, 0.201078,0.798922, maf-5-some-pop,maf-5-all-pops 730 chr21 19085880 19085881 rs191959529 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19085885 19085886 rs139305048 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19085888 19085889 rs779154695 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085929 19085930 rs746289135 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085949 19085950 rs182424260 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19085974 19085975 rs186543000 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19085985 19085986 rs776190991 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19085986 19085987 rs760791603 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19086042 19086043 rs543633389 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19086048 19086049 rs369599156 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19086051 19086052 rs561912657 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086052 19086053 rs58376654 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.28052 0.24813 unknown exact 1 17 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 845.000000,4163.000000, 0.168730,0.831270, maf-5-some-pop 730 chr21 19086057 19086058 rs191965739 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19086058 19086059 rs58547653 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 4 1000GENOMES,EVA_DECODE,HGSV,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 730 chr21 19086076 19086077 rs117163504 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.079983 0.183287 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 209.000000,4799.000000, 0.041733,0.958267, maf-5-some-pop 730 chr21 19086079 19086080 rs765553883 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19086097 19086098 rs187094006 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19086108 19086109 rs118068368 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, maf-5-some-pop 730 chr21 19086125 19086126 rs545991566 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19086132 19086133 rs149997609 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19086147 19086148 rs750603083 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19086165 19086166 rs146580501 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19086174 19086175 rs567547399 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19086180 19086181 rs552960191 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19086230 19086231 rs538859283 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19086256 19086257 rs535310654 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19086262 19086263 rs758668091 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19086277 19086278 rs553355304 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086306 19086307 rs578199791 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19086318 19086319 rs545443272 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086319 19086320 rs11702277 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.188 0.24219 unknown exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 526.000000,4482.000000, 0.105032,0.894968, maf-5-some-pop 730 chr21 19086385 19086386 rs576203012 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19086426 19086427 rs575964888 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 3 1000GENOMES,DDI,SSIP, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19086442 19086443 rs372941752 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19086467 19086468 rs376698719 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19086470 19086471 rs74473644 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4907.000000,101.000000, 0.979832,0.020168, maf-5-some-pop 730 chr21 19086475 19086476 rs529047507 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086541 19086542 rs115696227 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 730 chr21 19086584 19086585 rs9982973 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.105924 0.204309 unknown exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 281.000000,4727.000000, 0.056110,0.943890, maf-5-some-pop 730 chr21 19086600 19086601 rs117173130 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 730 chr21 19086622 19086623 rs551474105 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19086654 19086655 rs569759049 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086660 19086661 rs182279404 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19086663 19086664 rs544536716 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19086685 19086686 rs755580873 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19086699 19086700 rs549099376 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19086708 19086709 rs866978777 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19086740 19086741 rs188020282 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19086753 19086754 rs753468906 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19086842 19086843 rs928788 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.009539 0.068399 unknown exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 730 chr21 19086846 19086847 rs778692322 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19086861 19086862 rs73892661 0 + C C A/C genomic single unknown 0.5 0 unknown exact 1 1 ILLUMINA-UK, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19086876 19086877 rs370624125 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19086880 19086881 rs193024018 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086921 19086922 rs539367454 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086923 19086924 rs543898077 0 + C C C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19086934 19086935 rs111466431 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 4 BCM-HGSC-SUB,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19086949 19086950 rs557767200 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19086961 19086962 rs139271073 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19086967 19086968 rs537063329 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19086974 19086975 rs185708205 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19086984 19086985 rs188274139 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19087014 19087015 rs540825378 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19087079 19087080 rs559538669 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19087081 19087082 rs577854261 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19087084 19087085 rs192171359 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19087085 19087086 rs574513070 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19087089 19087090 rs530778965 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19087099 19087100 rs79706397 0 + A A A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19087104 19087105 rs776561089 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087175 19087176 rs540297934 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19087190 19087191 rs368183276 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19087199 19087200 rs115436531 0 + C C A/C genomic single by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 1 1000GENOMES, 2 A,C, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19087203 19087204 rs184459929 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19087213 19087214 rs762021500 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087307 19087308 rs62212911 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.184203 0.241186 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4494.000000,514.000000, 0.897364,0.102636, maf-5-some-pop 730 chr21 19087308 19087309 rs748895234 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19087334 19087335 rs55670125 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.325563 0.238307 unknown exact 1 20 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3983.000000,1025.000000, 0.795327,0.204673, maf-5-some-pop,maf-5-all-pops 730 chr21 19087346 19087347 rs76224994 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 730 chr21 19087386 19087387 rs374815021 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19087388 19087389 rs566213000 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19087392 19087393 rs569595844 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19087405 19087406 rs537001524 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19087413 19087414 rs759276177 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087428 19087429 rs555408571 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19087428 19087428 rs111397983 0 + - - -/ATC genomic insertion by-cluster 0.5 0 unknown between 1 MixedObserved 2 BUSHMAN,TISHKOFF, 2 -,ATC, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19087434 19087435 rs188462700 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19087456 19087457 rs79197700 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19087510 19087510 rs796108422 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 HAMMER_LAB, 0 730 chr21 19087516 19087517 rs552868268 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19087585 19087586 rs577801901 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19087599 19087603 rs772401336 0 + CTCT CTCT -/CTCT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087599 19087601 rs773731934 0 + CT CT -/CT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_DECODE, 0 730 chr21 19087601 19087603 rs761326742 0 + CT CT -/CT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087619 19087620 rs2039250 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.476052 0.106772 unknown exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 3052.000000,1956.000000, 0.609425,0.390575, maf-5-some-pop,maf-5-all-pops 730 chr21 19087621 19087622 rs548643087 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19087633 19087634 rs371976187 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19087638 19087639 rs563213155 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19087649 19087650 rs575181588 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19087651 19087652 rs77904931 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19087670 19087671 rs760538806 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087710 19087711 rs10854420 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.325799 0.238232 unknown exact 1 21 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3982.000000,1026.000000, 0.795128,0.204872, maf-5-some-pop,maf-5-all-pops 730 chr21 19087723 19087724 rs753280516 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087737 19087738 rs777164068 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19087743 19087751 rs558098657 0 + GTGCAGTG GTGCAGTG -/GTGCAGTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,GTGCAGTG, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19087757 19087758 rs528557688 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19087774 19087775 rs762338468 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19087779 19087780 rs756828540 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087784 19087785 rs764749537 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087787 19087788 rs750135551 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087811 19087812 rs758773577 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087849 19087850 rs144110081 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19087875 19087876 rs181356154 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19087888 19087889 rs780583674 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087904 19087905 rs796433333 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19087905 19087906 rs557452908 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19087910 19087911 rs368266645 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19087922 19087923 rs551201873 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19087933 19087934 rs747435888 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087968 19087969 rs866929652 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19087974 19087975 rs755436916 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19087990 19087991 rs570975495 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19088009 19088010 rs530454461 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19088018 19088019 rs548994804 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19088031 19088032 rs113254566 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 4 BCM-HGSC-SUB,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088033 19088034 rs538550860 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19088040 19088041 rs769937579 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088047 19088048 rs567280269 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19088095 19088096 rs773381337 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088109 19088110 rs146511759 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19088113 19088114 rs553108503 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088121 19088122 rs372469791 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19088165 19088166 rs558174509 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088182 19088183 rs750798477 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19088203 19088204 rs571275583 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088217 19088218 rs369061218 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19088235 19088236 rs771796568 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088237 19088238 rs78412444 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,T, 4962.000000,46.000000, 0.990815,0.009185, 730 chr21 19088240 19088241 rs531491257 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19088250 19088251 rs113532108 0 + T T G/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19088257 19088258 rs775248330 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088270 19088271 rs77073287 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19088292 19088293 rs143024069 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19088384 19088385 rs184317893 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19088385 19088386 rs554651318 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19088408 19088409 rs573158710 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19088428 19088429 rs540292450 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19088444 19088445 rs369827733 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19088473 19088474 rs761192171 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088481 19088482 rs76722609 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.174288 0.23826 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 483.000000,4525.000000, 0.096446,0.903554, maf-5-some-pop 730 chr21 19088502 19088503 rs750041997 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19088505 19088506 rs532665611 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19088507 19088508 rs544808245 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088516 19088517 rs751575466 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19088520 19088521 rs755131116 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19088522 19088523 rs758110132 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088544 19088545 rs68160941 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.325563 0.238307 unknown exact 1 18 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3983.000000,1025.000000, 0.795327,0.204673, maf-5-some-pop,maf-5-all-pops 730 chr21 19088561 19088562 rs189464108 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19088572 19088574 rs764460655 0 + AG AG -/AG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088594 19088595 rs151130036 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 730 chr21 19088611 19088612 rs567067250 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19088620 19088621 rs369388662 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19088637 19088638 rs781500839 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088640 19088641 rs748719714 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088665 19088666 rs756138057 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19088666 19088667 rs546282735 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088687 19088688 rs181984442 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19088697 19088698 rs538394148 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19088762 19088763 rs756080229 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088778 19088779 rs556717133 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19088780 19088781 rs777844103 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088785 19088786 rs568747395 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19088786 19088787 rs749423882 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088802 19088803 rs536059105 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088808 19088809 rs558866636 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19088838 19088839 rs771134279 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088839 19088840 rs543813940 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19088858 19088859 rs774592442 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088877 19088878 rs112490240 0 + A A A/G genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 G, 1.000000, 1.000000, 730 chr21 19088896 19088897 rs187464898 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19088898 19088899 rs540582509 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088924 19088925 rs532885324 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19088929 19088930 rs558719251 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088930 19088931 rs140100149 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 730 chr21 19088950 19088951 rs192072313 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19088969 19088970 rs776369344 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19088981 19088982 rs563055431 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19088989 19088990 rs578006326 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19088993 19088994 rs114281584 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19089012 19089013 rs146947801 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19089013 19089014 rs560791633 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19089014 19089015 rs527985672 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19089028 19089029 rs62212912 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.183886 0.241099 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 513.000000,4495.000000, 0.102436,0.897564, maf-5-some-pop 730 chr21 19089034 19089035 rs564567513 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19089035 19089036 rs532062981 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19089055 19089056 rs550227632 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19089076 19089077 rs568634744 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19089085 19089086 rs765327412 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089093 19089094 rs376193310 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19089117 19089118 rs536402587 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19089134 19089135 rs369479039 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19089136 19089137 rs373650347 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19089166 19089167 rs113924991 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19089167 19089168 rs111806007 0 + A A A/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 1.000000, 1.000000, 730 chr21 19089168 19089169 rs59678481 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.5 0 unknown exact 1 MixedObserved 15 1000GENOMES,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,T, 2.000000,2.000000, 0.500000,0.500000, 730 chr21 19089168 19089169 rs78213228 0 + T T A/T genomic single by-frequency,by-1000genomes 0.305186 0.243833 unknown exact 1 MixedObserved 3 1000GENOMES,BUSHMAN,GMI, 2 A,T, 941.000000,4067.000000, 0.187899,0.812101, maf-5-some-pop,maf-5-all-pops 730 chr21 19089176 19089177 rs116252864 0 + T T G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19089177 19089178 rs200883522 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 730 chr21 19089177 19089178 rs398036177 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 730 chr21 19089178 19089179 rs202105236 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19089209 19089210 rs558886502 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089230 19089231 rs577342915 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19089238 19089239 rs538256707 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19089239 19089240 rs8126536 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.071153 0.174681 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 185.000000,4823.000000, 0.036941,0.963059, maf-5-some-pop 730 chr21 19089246 19089247 rs745339067 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19089261 19089262 rs574989245 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089278 19089279 rs542367794 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19089293 19089296 rs765383866 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089293 19089293 rs745440069 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 EVA_GENOME_DK, 0 730 chr21 19089295 19089296 rs186265843 0 + T T G/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19089302 19089303 rs548817941 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19089304 19089305 rs562379978 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19089309 19089310 rs751249224 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089317 19089318 rs190200947 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19089327 19089328 rs759777818 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089371 19089372 rs371205522 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP, 2 C,T, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 730 chr21 19089373 19089374 rs146841912 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089377 19089378 rs531955066 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19089378 19089379 rs182706065 0 + G G C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19089450 19089451 rs75467857 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.133093 0.220981 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 359.000000,4649.000000, 0.071685,0.928315, maf-5-some-pop 730 chr21 19089526 19089527 rs762248770 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19089534 19089535 rs529795382 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089543 19089544 rs138939066 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19089546 19089547 rs566575816 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089551 19089552 rs770288096 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19089553 19089554 rs773560822 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19089561 19089562 rs60123547 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.25634 0.24992 unknown exact 1 18 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 756.000000,4252.000000, 0.150958,0.849042, maf-5-some-pop 730 chr21 19089605 19089606 rs2405643 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.42574 0.177808 unknown exact 1 28 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3469.000000,1539.000000, 0.692692,0.307308, maf-5-some-pop,maf-5-all-pops,genotype-conflict 730 chr21 19089616 19089617 rs187445196 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19089618 19089619 rs570779989 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089627 19089628 rs753880477 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089637 19089638 rs191120167 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089646 19089650 rs142404176 0 + AATC AATC -/AATC genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 730 chr21 19089659 19089660 rs556605784 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19089663 19089664 rs757373278 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089703 19089704 rs539904206 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089745 19089746 rs10439690 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SC_SNP,TISHKOFF, 2 A,C, 46.000000,4962.000000, 0.009185,0.990815, 730 chr21 19089784 19089785 rs149443606 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19089794 19089795 rs56963238 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 2 1000GENOMES,HGSV, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 730 chr21 19089800 19089801 rs781028271 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089822 19089823 rs747964554 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089833 19089834 rs769826807 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19089844 19089845 rs111756456 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19089846 19089847 rs767650499 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19089868 19089869 rs572513843 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19089870 19089871 rs183705285 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19089887 19089888 rs189005195 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19089898 19089899 rs77557420 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.130694 0.219696 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4656.000000,352.000000, 0.929712,0.070288, maf-5-some-pop 730 chr21 19089899 19089900 rs199941777 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19089920 19089921 rs576339583 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19089978 19089979 rs13049808 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 BCMHGSC_JDW,SSAHASNP, 0 730 chr21 19089979 19089982 rs145497886 0 + AAG AAG -/G genomic deletion unknown 0 0 unknown range 1 ObservedMismatch 2 HUMANGENOME_JCVI,PJP, 0 730 chr21 19089981 19089982 rs73204427 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 3 BL,GMI,ILLUMINA-UK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19089983 19089986 rs71189557 0 + AGA AGA -/AGA genomic deletion unknown 0 0 unknown range 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 730 chr21 19090018 19090019 rs555200610 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 730 chr21 19090148 19090149 rs543797652 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19090172 19090173 rs575184743 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19090174 19090175 rs374562932 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 730 chr21 19090187 19090188 rs529771849 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19090188 19090189 rs541591631 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19090203 19090204 rs542111875 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19090204 19090205 rs192628209 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19090225 19090226 rs182883687 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19090237 19090238 rs187518295 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19090240 19090241 rs570718303 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19090248 19090249 rs77960029 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19090249 19090250 rs537419940 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19090281 19090282 rs770594108 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19090284 19090285 rs2405644 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.306927 0.243432 unknown exact 1 17 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 948.000000,4060.000000, 0.189297,0.810703, maf-5-some-pop 730 chr21 19090292 19090293 rs142781654 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 730 chr21 19090293 19090294 rs540350339 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19090296 19090297 rs146083905 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 61.000000,4947.000000, 0.012180,0.987819, 730 chr21 19090306 19090307 rs553948008 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19090316 19090317 rs566170395 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19090333 19090334 rs560671535 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19090351 19090352 rs540321978 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19090358 19090359 rs539605410 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19090376 19090377 rs557972666 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19090388 19090389 rs112540374 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.142947 0.22592 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4620.000000,388.000000, 0.922524,0.077476, maf-5-some-pop 730 chr21 19090397 19090398 rs543731239 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19090403 19090404 rs11910414 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.325563 0.238307 unknown exact 1 21 1000GENOMES,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3983.000000,1025.000000, 0.795327,0.204673, maf-5-some-pop,maf-5-all-pops 730 chr21 19090405 19090406 rs139569855 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.208474 0.246527 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4416.000000,592.000000, 0.881789,0.118211, maf-5-some-pop 730 chr21 19090419 19090421 rs140969394 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.337614 0.234145 unknown range 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,PJP,SSMP, 2 -,AA, 1077.000000,3931.000000, 0.215056,0.784944, maf-5-some-pop,maf-5-all-pops 730 chr21 19090451 19090452 rs541829202 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19090461 19090462 rs779470329 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19090472 19090473 rs149734086 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19090506 19090507 rs199709015 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19090597 19090598 rs114924142 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 730 chr21 19090678 19090679 rs117036473 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.130351 0.219509 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 351.000000,4657.000000, 0.070088,0.929912, maf-5-some-pop 730 chr21 19090692 19090693 rs35834033 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.325327 0.238382 unknown exact 1 17 1000GENOMES,ABI,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3984.000000,1024.000000, 0.795527,0.204473, maf-5-some-pop,maf-5-all-pops 730 chr21 19090717 19090718 rs9982389 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.460477 0.134905 unknown exact 1 21 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1800.000000,3208.000000, 0.359425,0.640575, maf-5-some-pop,maf-5-all-pops 730 chr21 19090718 19090719 rs191484651 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19090719 19090720 rs145638426 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19090755 19090756 rs548429606 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19090778 19090778 rs34444724 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19090798 19090799 rs113624375 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.143622 0.226238 unknown exact 1 12 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 390.000000,4618.000000, 0.077875,0.922125, maf-5-some-pop 730 chr21 19090856 19090857 rs372958739 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19090882 19090883 rs534264713 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19090942 19090943 rs376447920 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19090946 19090947 rs369245317 0 + C C C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BILGI_BIOE, 0 730 chr21 19090946 19090947 rs377194847 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 LUNTER, 0 730 chr21 19090950 19090951 rs71324220 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 SingleAlleleFreq 7 1000GENOMES,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,PJP,WEILL_CORNELL_DGM, 1 C, 4.000000, 1.000000, 730 chr21 19090966 19090968 rs550483109 0 + TA TA -/TA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 3 HGSV,PJP,SSIP, 0 730 chr21 19090966 19090967 rs868001468 0 + T T A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 730 chr21 19090967 19090968 rs11701711 0 + A A A/T genomic single by-cluster,by-hapmap 0 0 unknown exact 1 2 CSHL-HAPMAP,WEILL_CORNELL_DGM, 0 730 chr21 19090973 19090974 rs200172767 0 + A A A/C/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved,SingleClassTriAllelic 2 GMI,WEILL_CORNELL_DGM, 0 730 chr21 19090973 19090974 rs373481266 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 LUNTER, 0 730 chr21 19090980 19090981 rs574071955 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 2 SSIP,WEILL_CORNELL_DGM, 0 730 chr21 19091037 19091038 rs868224888 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091058 19091059 rs867242301 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091062 19091063 rs566034460 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19091107 19091108 rs539595264 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19091111 19091112 rs557912738 0 + T T C/T genomic single by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 1 1000GENOMES, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, 730 chr21 19091114 19091115 rs867856080 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091151 19091152 rs542365257 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.213333 0.247296 unknown exact 1 4 1000GENOMES,HAMMER_LAB,SSIP,WEILL_CORNELL_DGM, 2 G,T, 4400.000000,608.000000, 0.878594,0.121406, maf-5-some-pop 730 chr21 19091168 19091169 rs537261111 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19091206 19091207 rs555753964 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19091296 19091297 rs574276243 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19091307 19091308 rs541419665 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19091310 19091311 rs553770141 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19091416 19091417 rs572167765 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19091490 19091491 rs867236991 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091495 19091496 rs545942274 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 730 chr21 19091498 19091498 rs550607529 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 unknown between 1 1 1000GENOMES, 2 -,C, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19091536 19091537 rs377025214 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19091567 19091568 rs62212913 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 3 BCMHGSC_JDW,ENSEMBL,WEILL_CORNELL_DGM, 1 C, 2.000000, 1.000000, 730 chr21 19091568 19091569 rs369644728 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19091573 19091574 rs80142287 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 3 ENSEMBL,SSAHASNP,WEILL_CORNELL_DGM, 1 G, 2.000000, 1.000000, 730 chr21 19091596 19091596 rs766568319 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 730 chr21 19091597 19091598 rs866993108 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091615 19091616 rs576276336 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19091631 19091632 rs543645931 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4844.000000,164.000000, 0.967252,0.032748, maf-5-some-pop 730 chr21 19091638 19091639 rs112657457 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19091643 19091644 rs866472236 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091652 19091653 rs866844047 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091681 19091682 rs868644663 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091714 19091715 rs866172563 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091742 19091743 rs866667542 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091750 19091751 rs868584534 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091774 19091775 rs866063755 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091801 19091802 rs866592623 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091813 19091814 rs868577982 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091821 19091822 rs866038297 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091830 19091831 rs867991392 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091880 19091881 rs868498460 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091905 19091906 rs374328321 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19091920 19091921 rs865780420 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091960 19091961 rs867892290 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19091963 19091964 rs868458845 0 + T T A/C/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 1 WEILL_CORNELL_DGM, 0 730 chr21 19091966 19091967 rs867371227 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092006 19092007 rs867433936 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092008 19092009 rs868185300 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092028 19092029 rs867103282 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092069 19092070 rs867498092 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092107 19092108 rs866474673 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092129 19092130 rs866532683 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092130 19092130 rs533772169 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 730 chr21 19092157 19092158 rs867454625 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092175 19092176 rs866422872 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092177 19092178 rs866869919 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092181 19092182 rs868637066 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092186 19092187 rs865804953 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092202 19092203 rs561795362 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19092208 19092209 rs868605979 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092214 19092215 rs866159851 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092248 19092249 rs867866718 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092306 19092307 rs868328921 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092336 19092337 rs866049393 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092377 19092378 rs867867539 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092410 19092411 rs868516346 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092478 19092479 rs377734537 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19092482 19092483 rs370120120 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19092499 19092500 rs373060371 0 + G G A/C/G genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA-GONL,SSMP, 0 730 chr21 19092509 19092510 rs529230733 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,G, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19092515 19092516 rs376302297 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19092526 19092527 rs867281834 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092558 19092559 rs371963166 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 730 chr21 19092590 19092591 rs866306491 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092602 19092602 rs200846139 0 + - - -/TC genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 730 chr21 19092605 19092606 rs547474131 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, 730 chr21 19092608 19092609 rs559728720 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19092614 19092615 rs370696035 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19092625 19092626 rs533233242 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19092628 19092629 rs551424343 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19092649 19092650 rs562351595 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 SSIP, 0 730 chr21 19092649 19092649 rs778900646 0 + - - -/CT genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 SSMP, 0 730 chr21 19092669 19092670 rs566861253 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19092673 19092674 rs866480718 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092705 19092706 rs866588759 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092711 19092712 rs535604120 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19092721 19092722 rs548786364 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 observed-mismatch 730 chr21 19092759 19092760 rs868767530 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092772 19092773 rs866438673 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 observed-mismatch 730 chr21 19092804 19092805 rs796978639 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19092815 19092816 rs189027226 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 730 chr21 19092828 19092829 rs868839952 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092838 19092839 rs569834556 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19092852 19092853 rs865819632 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092886 19092887 rs537200245 0 + C C C/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 1 1000GENOMES, 2 C,G, 4985.000000,23.000000, 0.995407,0.004593, 730 chr21 19092906 19092907 rs540509178 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19092930 19092931 rs867881030 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19092947 19092948 rs374070938 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.066703 0.170006 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 173.000000,4835.000000, 0.034545,0.965455, maf-5-some-pop 730 chr21 19092961 19092962 rs567853271 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093010 19093011 rs867727798 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19093050 19093051 rs535375436 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093051 19093052 rs553467475 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093056 19093057 rs536214623 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 -,G, 42.000000,4966.000000, 0.008387,0.991613, 730 chr21 19093062 19093063 rs572036810 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19093090 19093091 rs568739250 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.208779 0.246578 unknown exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 4415.000000,593.000000, 0.881589,0.118411, maf-5-some-pop 730 chr21 19093096 19093097 rs368266285 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 47.000000,4961.000000, 0.009385,0.990615, 730 chr21 19093098 19093099 rs576213357 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19093099 19093100 rs370793712 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 unknown exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,G, 86.000000,4922.000000, 0.017173,0.982827, maf-5-some-pop 730 chr21 19093112 19093113 rs561962995 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093138 19093139 rs573829828 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19093139 19093140 rs374459166 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 730 chr21 19093156 19093157 rs559240959 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093159 19093160 rs557780481 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19093167 19093168 rs200788272 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.499732 0.011578 unknown exact 1 6 1000GENOMES,EVA-GONL,GMI,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2446.000000,2562.000000, 0.488419,0.511581, maf-5-some-pop,maf-5-all-pops 730 chr21 19093175 19093176 rs551366829 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093209 19093249 rs555359480 0 + GATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGG GATGGCGGCTGGGAAGAGGCGCTCCTCACTTCCTAGATGG lengthTooLong genomic in-del unknown 0 0 unknown range 1 ObservedTooLong 1 SSIP, 0 730 chr21 19093218 19093219 rs563403812 0 + T T C/T genomic single by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 1 1000GENOMES, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 730 chr21 19093222 19093223 rs530953442 0 + A A A/C genomic single by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 1 1000GENOMES, 2 A,C, 4985.000000,23.000000, 0.995407,0.004593, 730 chr21 19093227 19093228 rs549308714 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19093228 19093229 rs567877246 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093248 19093249 rs372447827 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19093254 19093255 rs202197351 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.135484 0.22223 unknown exact 1 4 1000GENOMES,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4642.000000,366.000000, 0.926917,0.073083, maf-5-some-pop 730 chr21 19093255 19093256 rs12482235 0 + G G C/G genomic single by-cluster,by-hapmap 0 0 unknown exact 1 2 ABI,CSHL-HAPMAP, 0 730 chr21 19093281 19093282 rs547243657 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093314 19093315 rs796138527 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19093360 19093361 rs571973292 0 + G G C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19093365 19093366 rs367573089 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19093374 19093375 rs539397480 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 1 1000GENOMES, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 730 chr21 19093393 19093394 rs557826351 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19093421 19093422 rs569762142 0 + C C C/T genomic single by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 1 1000GENOMES, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 730 chr21 19093446 19093447 rs537175072 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19093452 19093453 rs555253916 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093456 19093457 rs573748421 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19093473 19093474 rs771284335 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19093477 19093478 rs3848847 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.208779 0.246578 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4415.000000,593.000000, 0.881589,0.118411, maf-5-some-pop 730 chr21 19093481 19093482 rs552803900 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093482 19093483 rs577527987 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093485 19093486 rs146938056 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19093502 19093503 rs759740679 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19093542 19093543 rs147584413 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 730 chr21 19093543 19093544 rs112733022 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.143622 0.226238 unknown exact 1 12 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 390.000000,4618.000000, 0.077875,0.922125, maf-5-some-pop 730 chr21 19093545 19093546 rs543142723 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093548 19093549 rs561247195 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093562 19093563 rs553798724 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19093613 19093614 rs375976939 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19093645 19093646 rs528637887 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093649 19093650 rs546887763 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093663 19093664 rs571959282 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093664 19093665 rs28663545 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.45843 0.138046 unknown exact 1 23 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1782.000000,3226.000000, 0.355831,0.644169, maf-5-some-pop,maf-5-all-pops 730 chr21 19093698 19093699 rs67460653 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.326035 0.238157 unknown exact 1 17 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1027.000000,3981.000000, 0.205072,0.794928, maf-5-some-pop,maf-5-all-pops 730 chr21 19093718 19093719 rs28736752 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.135825 0.222405 unknown exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4641.000000,367.000000, 0.926717,0.073283, maf-5-some-pop 730 chr21 19093729 19093730 rs9980797 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 730 chr21 19093738 19093739 rs192655814 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19093744 19093745 rs1552594 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.184838 0.241358 unknown exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 516.000000,4492.000000, 0.103035,0.896965, maf-5-some-pop 730 chr21 19093751 19093752 rs184462124 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19093754 19093755 rs189452510 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19093760 19093761 rs552791462 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093810 19093811 rs770504416 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19093819 19093820 rs866498884 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19093821 19093822 rs182050405 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19093826 19093827 rs531491762 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19093834 19093835 rs544930933 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19093860 19093861 rs4818381 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap 0.018778 0.095059 unknown exact 1 1 WI_SSAHASNP, 2 C,G, 418.000000,4.000000, 0.990521,0.009479, 730 chr21 19093874 19093875 rs556921560 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093880 19093881 rs142106855 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19093946 19093947 rs146757900 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19093970 19093974 rs201612175 0 + CTGG CTGG -/CTGG genomic deletion by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,CTGG, 44.000000,4964.000000, 0.008786,0.991214, 730 chr21 19093972 19093976 rs369374959 0 + GGCT GGCT -/GGCT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 730 chr21 19093978 19093979 rs561391908 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19094035 19094036 rs540284197 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094036 19094037 rs185928677 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19094050 19094051 rs771724074 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19094053 19094054 rs775053204 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094084 19094085 rs540824723 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19094109 19094110 rs760977867 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094112 19094113 rs148362870 0 + G G C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19094130 19094131 rs796519695 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19094154 19094155 rs560606391 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19094190 19094191 rs532837429 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19094211 19094212 rs551258934 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19094236 19094237 rs750189921 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19094245 19094246 rs569474813 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19094261 19094262 rs141516127 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19094275 19094276 rs150491786 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19094286 19094287 rs57271606 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.145305 0.227022 unknown exact 1 13 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4613.000000,395.000000, 0.921126,0.078874, maf-5-some-pop 730 chr21 19094292 19094293 rs57515691 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.145305 0.227022 unknown exact 1 13 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 395.000000,4613.000000, 0.078874,0.921126, maf-5-some-pop 730 chr21 19094307 19094308 rs746496676 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19094322 19094323 rs189089207 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 0 730 chr21 19094370 19094371 rs138314773 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19094413 19094414 rs762295534 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094422 19094423 rs571143233 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19094449 19094450 rs765730726 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094469 19094470 rs538461767 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19094471 19094472 rs142783862 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19094479 19094480 rs575458422 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19094529 19094531 rs150531006 0 + GT GT -/GT genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 730 chr21 19094531 19094532 rs748859930 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19094532 19094532 rs573547686 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 730 chr21 19094552 19094553 rs181181731 0 + T T C/T genomic single by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 1 1000GENOMES, 2 C,T, 48.000000,4960.000000, 0.009585,0.990415, 730 chr21 19094585 19094586 rs112332009 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 unknown exact 1 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4912.000000,96.000000, 0.980831,0.019169, 730 chr21 19094626 19094627 rs531408032 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094634 19094635 rs766577768 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094646 19094647 rs61279886 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.213937 0.247385 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 610.000000,4398.000000, 0.121805,0.878195, maf-5-some-pop 730 chr21 19094656 19094657 rs571468849 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19094663 19094664 rs375755675 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19094675 19094676 rs777721134 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094680 19094681 rs34400192 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.326741 0.23793 unknown exact 1 21 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3978.000000,1030.000000, 0.794329,0.205671, maf-5-some-pop,maf-5-all-pops 730 chr21 19094710 19094711 rs577482964 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19094717 19094718 rs544826067 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19094738 19094739 rs563159246 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19094744 19094745 rs4352297 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.132066 0.220435 unknown exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4652.000000,356.000000, 0.928914,0.071086, maf-5-some-pop 730 chr21 19094775 19094776 rs548962949 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19094804 19094805 rs746295144 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19094805 19094806 rs560751566 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19094812 19094816 rs558781490 0 + TAGA TAGA -/TAGA genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 unknown range 1 1 1000GENOMES, 2 -,TAGA, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19094831 19094832 rs528159697 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19094832 19094833 rs186621787 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19094833 19094834 rs75658229 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.209084 0.246629 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4414.000000,594.000000, 0.881390,0.118610, maf-5-some-pop 730 chr21 19094844 19094845 rs116970310 0 + G G A/G genomic single by-1000genomes 0.016528 0.089391 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,119.000000, 0.008333,0.991667, 730 chr21 19094856 19094857 rs76205924 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,T, 4982.000000,26.000000, 0.994808,0.005192, maf-5-some-pop 730 chr21 19094896 19094897 rs550401174 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19094930 19094931 rs755877824 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19094952 19094953 rs374285891 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19094954 19094955 rs113842419 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.144969 0.226867 unknown exact 1 12 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4614.000000,394.000000, 0.921326,0.078674, maf-5-some-pop 730 chr21 19094955 19094956 rs7283687 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.135825 0.222405 unknown exact 1 19 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 367.000000,4641.000000, 0.073283,0.926717, maf-5-some-pop 730 chr21 19094960 19094961 rs191321690 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19094961 19094962 rs573118713 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095029 19095030 rs534203648 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095039 19095040 rs374661370 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19095051 19095052 rs575858572 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19095062 19095063 rs867609549 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19095076 19095077 rs7275944 0 + C C A/C genomic single by-2hit-2allele 0 0 unknown exact 1 1 BCM_SSAHASNP, 0 730 chr21 19095077 19095078 rs772514402 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19095115 19095116 rs559049733 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19095148 19095149 rs868476566 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19095165 19095166 rs764221449 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19095166 19095167 rs577426961 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095176 19095177 rs544811904 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19095192 19095193 rs768357292 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095213 19095214 rs776585826 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19095238 19095239 rs562988987 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19095241 19095241 rs138575072 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.4628 0.13121 unknown between 1 10 1000GENOMES,BL,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PJP,SSMP, 2 -,A, 3187.000000,1821.000000, 0.636382,0.363618, maf-5-some-pop,maf-5-all-pops 730 chr21 19095251 19095251 rs78430672 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 BGI, 0 730 chr21 19095252 19095252 rs574769254 0 + - - -/A/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown between 1 InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,C, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19095256 19095257 rs544826239 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19095281 19095282 rs542194338 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095305 19095306 rs765152535 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19095309 19095310 rs58171953 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 4 1000GENOMES,HGSV,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4974.000000,34.000000, 0.993211,0.006789, 730 chr21 19095314 19095315 rs762205707 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095356 19095357 rs558395160 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19095381 19095382 rs11700713 0 + T T C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.426507 0.177046 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 19 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1544.000000,3464.000000, 0.308307,0.691693, maf-5-some-pop,maf-5-all-pops 730 chr21 19095389 19095390 rs540947754 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19095398 19095399 rs114583067 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,G, 45.000000,4963.000000, 0.008986,0.991014, 730 chr21 19095438 19095439 rs113695492 0 + A A A/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19095450 19095451 rs766376453 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095458 19095459 rs113199195 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19095466 19095467 rs182756265 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095495 19095496 rs186150317 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095499 19095500 rs148576453 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 7 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 41.000000,4967.000000, 0.008187,0.991813, 730 chr21 19095510 19095511 rs78989820 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.209084 0.246629 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 594.000000,4414.000000, 0.118610,0.881390, maf-5-some-pop 730 chr21 19095528 19095529 rs75783084 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.209388 0.246679 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4413.000000,595.000000, 0.881190,0.118810, maf-5-some-pop 730 chr21 19095545 19095546 rs548153933 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19095561 19095562 rs190864111 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19095562 19095563 rs183280373 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19095572 19095573 rs559036471 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19095575 19095576 rs111512858 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19095582 19095583 rs753650533 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095583 19095584 rs142091514 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 730 chr21 19095592 19095592 rs562651880 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095596 19095597 rs112327378 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19095601 19095602 rs757051445 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095614 19095615 rs538372958 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095651 19095652 rs778860188 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095667 19095668 rs745822887 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095681 19095682 rs187270722 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19095694 19095695 rs574902532 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19095705 19095706 rs779527688 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19095749 19095750 rs542431044 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095751 19095752 rs192149523 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19095754 19095755 rs144729193 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,GMI, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19095770 19095771 rs183568414 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19095771 19095772 rs188165589 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095840 19095841 rs148673976 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19095896 19095897 rs535987056 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19095912 19095912 rs560455558 0 + - - -/T/TT genomic insertion by-cluster,by-frequency,by-1000genomes 0.422 0.181428 unknown between 1 InconsistentAlleles 2 1000GENOMES,SSMP, 2 -,T, 3493.000000,1515.000000, 0.697484,0.302516, maf-5-some-pop,maf-5-all-pops 730 chr21 19095913 19095913 rs71333591 0 + - - -/T genomic insertion by-cluster 0.5 0 unknown between 1 2 HUMANGENOME_JCVI,PJP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19095925 19095927 rs386816700 0 + TT TT C/TT genomic in-del unknown 0 0 unknown rangeDeletion 1 FlankMismatchGenomeShorter 1 TISHKOFF, 0 730 chr21 19095926 19095927 rs551307414 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.186421 0.24178 unknown exact 1 4 1000GENOMES,ILLUMINA,SSIP,WEILL_CORNELL_DGM, 2 C,T, 521.000000,4487.000000, 0.104034,0.895966, maf-5-some-pop 730 chr21 19095927 19095927 rs35443636 0 + - - -/C/T/TT genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 3 1000GENOMES,ABI,GMI, 0 rs-cluster-nonoverlapping-alleles 730 chr21 19095934 19095935 rs571451543 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19095961 19095962 rs543935459 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19095962 19095963 rs562622783 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096202 19096203 rs746590446 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19096216 19096217 rs76518107 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.224709 0.248717 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 646.000000,4362.000000, 0.128994,0.871006, maf-5-some-pop 730 chr21 19096226 19096227 rs547712252 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19096229 19096230 rs776318874 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19096251 19096252 rs572288935 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19096270 19096271 rs748630072 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19096278 19096278 rs375635961 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 730 chr21 19096283 19096284 rs567146466 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19096340 19096341 rs566766803 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19096345 19096346 rs527634011 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096349 19096350 rs748499260 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19096358 19096359 rs536255904 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19096399 19096400 rs142156015 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,G, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19096406 19096407 rs538255974 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19096443 19096444 rs116099314 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 20.000000,4988.000000, 0.003994,0.996006, 730 chr21 19096458 19096459 rs80180365 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19096480 19096481 rs535661517 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096563 19096564 rs553991778 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19096580 19096581 rs139731937 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19096608 19096609 rs546121224 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096647 19096648 rs145038038 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096665 19096666 rs78895693 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.041436 0.137845 unknown exact 1 5 1000GENOMES,EVA_DECODE,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4902.000000,106.000000, 0.978834,0.021166, maf-5-some-pop 730 chr21 19096673 19096674 rs544195607 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096684 19096685 rs774565037 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19096724 19096725 rs564701927 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19096739 19096740 rs529839750 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096743 19096744 rs184431727 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19096754 19096755 rs527315515 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010075 0.070258 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,G, 24.000000,4716.000000, 0.005063,0.994937, 730 chr21 19096755 19096755 rs60268494 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.101761 0.201309 unknown between 1 8 1000GENOMES,BILGI_BIOE,BUSHMAN,EVA-GONL,EVA_DECODE,LUNTER,SSMP,TISHKOFF, 2 -,A, 4716.000000,268.000000, 0.946228,0.053772, maf-5-some-pop 730 chr21 19096756 19096756 rs397972088 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19096800 19096801 rs527570979 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19096816 19096817 rs752989670 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19096832 19096833 rs113732208 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, 730 chr21 19096844 19096845 rs764943629 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19096863 19096869 rs538412289 0 + TCTGTT TCTGTT -/TCTGTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TCTGTT, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19096864 19096864 rs113889883 0 + - - -/CTGA genomic insertion by-cluster,by-frequency,by-1000genomes 0.100231 0.200173 unknown between 1 9 1000GENOMES,BILGI_BIOE,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,CTGA, 4743.000000,265.000000, 0.947085,0.052915, maf-5-some-pop 730 chr21 19096867 19096867 rs5842654 0 + - - -/ACTG genomic insertion by-cluster 0 0 unknown between 1 2 HGSV,TISHKOFF, 0 730 chr21 19096881 19096882 rs547090527 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19096918 19096919 rs141956643 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19096933 19096934 rs1475854 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.103438 0.202533 unknown exact 1 17 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4734.000000,274.000000, 0.945288,0.054713, maf-5-some-pop,genotype-conflict 730 chr21 19096961 19096962 rs149703481 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19096964 19096965 rs369685255 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19096965 19096966 rs145504118 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19096987 19096988 rs535973383 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097016 19097017 rs111931780 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19097020 19097021 rs10707443 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.43555 0.167544 unknown exact 1 4 1000GENOMES,BILGI_BIOE,BUSHMAN,PJP, 2 -,T, 1605.000000,3403.000000, 0.320487,0.679513, maf-5-some-pop,maf-5-all-pops 730 chr21 19097021 19097022 rs537991118 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19097023 19097024 rs547567735 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19097048 19097049 rs867996365 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19097053 19097054 rs565899425 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19097071 19097072 rs539664940 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097077 19097078 rs567328207 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19097104 19097105 rs557980847 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097108 19097109 rs576680798 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097109 19097110 rs8132588 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.124491 0.216211 unknown exact 1 MixedObserved 4 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 334.000000,4674.000000, 0.066693,0.933307, maf-5-some-pop 730 chr21 19097109 19097111 rs386816701 0 + TT TT CC/TT genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19097110 19097111 rs8132589 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.390464 0.206809 unknown exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1332.000000,3676.000000, 0.265974,0.734026, maf-5-some-pop 730 chr21 19097112 19097113 rs574429299 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097142 19097143 rs541945447 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19097156 19097157 rs560305062 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097163 19097164 rs148170514 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 G,T, 136.000000,4872.000000, 0.027157,0.972843, maf-5-some-pop 730 chr21 19097166 19097167 rs546023927 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097167 19097168 rs773170345 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19097195 19097195 rs36058600 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19097205 19097206 rs62212914 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.161596 0.233848 unknown exact 1 15 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4564.000000,444.000000, 0.911342,0.088658, maf-5-some-pop 730 chr21 19097221 19097222 rs372541688 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19097222 19097223 rs549885041 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097231 19097232 rs116542186 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 730 chr21 19097250 19097251 rs529284776 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097270 19097271 rs536358272 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19097297 19097298 rs573659404 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19097327 19097328 rs547456109 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097350 19097351 rs542627496 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19097370 19097371 rs201285382 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 -,T, 46.000000,4962.000000, 0.009185,0.990815, 730 chr21 19097392 19097393 rs8131156 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.313326 0.241847 unknown exact 1 17 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 974.000000,4034.000000, 0.194489,0.805511, maf-5-some-pop 730 chr21 19097393 19097394 rs199498592 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19097394 19097395 rs188318758 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097404 19097405 rs200510140 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19097405 19097409 rs766090892 0 + AATA AATA -/AATA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 3 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19097405 19097405 rs151261747 0 + - - -/AATA/AATAAATA genomic insertion by-cluster,by-1000genomes 0.338203 0.2405 unknown between 1 MixedObserved 4 1000GENOMES,BILGI_BIOE,LUNTER,SSMP, 3 -,AATA,AATAAATA, 3940.000000,1036.000000,32.000000, 0.786741,0.206869,0.006390, 730 chr21 19097409 19097409 rs750048579 0 + - - -/AATA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19097429 19097429 rs57822304 0 + - - -/AATA genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19097433 19097434 rs551596945 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097444 19097445 rs867373458 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19097456 19097457 rs549561956 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19097493 19097494 rs41456150 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.103794 0.20279 unknown exact 1 15 1000GENOMES,AFFY,AFFY_GWHS,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4733.000000,275.000000, 0.945088,0.054912, maf-5-some-pop 730 chr21 19097509 19097510 rs576108670 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19097528 19097529 rs868344073 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19097532 19097534 rs563167297 0 + CT CT -/CT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,CT, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19097538 19097539 rs537780299 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097548 19097549 rs555872037 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097550 19097551 rs141382181 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097597 19097598 rs749725893 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19097670 19097671 rs375946974 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19097680 19097681 rs535466513 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097708 19097708 rs765313895 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19097750 19097751 rs553858367 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097821 19097822 rs572181744 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19097833 19097834 rs144987634 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19097834 19097835 rs370922640 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19097870 19097871 rs564332748 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097876 19097877 rs867011153 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19097877 19097878 rs576242224 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19097888 19097889 rs2101523 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.46754 0.123192 unknown exact 1 27 1000GENOMES,ABI,AFFY,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1866.000000,3142.000000, 0.372604,0.627396, maf-5-some-pop 730 chr21 19097956 19097957 rs73312230 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.153 0.230415 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 418.000000,4590.000000, 0.083467,0.916534, maf-5-some-pop 730 chr21 19097989 19097990 rs752232644 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19098016 19098017 rs371001830 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19098019 19098020 rs138836396 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19098042 19098043 rs141942258 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19098045 19098046 rs559408674 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19098054 19098055 rs533294949 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19098077 19098078 rs377288598 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19098107 19098108 rs192353628 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19098113 19098114 rs150859302 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 32.000000,4976.000000, 0.006390,0.993610, 730 chr21 19098124 19098125 rs755622956 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19098131 19098132 rs75542675 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19098204 19098205 rs759640267 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19098205 19098206 rs772309059 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19098234 19098235 rs567868656 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19098283 19098284 rs535402518 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19098290 19098291 rs553844426 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19098431 19098432 rs185003219 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19098432 19098433 rs370323221 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 730 chr21 19098436 19098437 rs370843187 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19098471 19098472 rs138196475 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19098478 19098479 rs188938263 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19098486 19098487 rs760819638 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19098519 19098520 rs74717866 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.132409 0.220618 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4651.000000,357.000000, 0.928714,0.071286, maf-5-some-pop 730 chr21 19098552 19098553 rs750155283 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19098569 19098570 rs576157613 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19098621 19098622 rs796280860 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19098670 19098671 rs75086732 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074106 0.177655 unknown exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4815.000000,193.000000, 0.961462,0.038538, maf-5-some-pop 730 chr21 19098686 19098687 rs555593329 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19098691 19098692 rs766259370 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19098739 19098740 rs573636508 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19098757 19098758 rs9977357 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499563 0.01477 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2578.000000,2430.000000, 0.514776,0.485224, maf-5-some-pop,maf-5-all-pops 730 chr21 19098793 19098794 rs754421093 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19098827 19098828 rs181774492 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19098870 19098871 rs9977139 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.479904 0.098205 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3006.000000,2002.000000, 0.600240,0.399760, maf-5-some-pop 730 chr21 19098872 19098873 rs367799201 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 730 chr21 19098921 19098922 rs545453090 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19098948 19098949 rs13050074 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 10 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19098951 19098952 rs57735164 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.134119 0.221521 unknown exact 1 14 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4646.000000,362.000000, 0.927716,0.072284, maf-5-some-pop 730 chr21 19098991 19098992 rs549320922 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19098997 19098998 rs748225060 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099018 19099019 rs149302089 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19099019 19099020 rs528842881 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19099020 19099021 rs771444334 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099037 19099038 rs547400385 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19099050 19099051 rs28555295 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19099054 19099055 rs565644577 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19099077 19099078 rs539461246 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19099125 19099126 rs11909791 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.084 0.186933 unknown exact 1 17 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4788.000000,220.000000, 0.956070,0.043930, maf-5-some-pop 730 chr21 19099144 19099144 rs542392378 0 + - - -/AAATCTCT genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 unknown between 1 1 1000GENOMES, 2 -,AAATCTCT, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19099198 19099199 rs746379158 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099211 19099212 rs189841922 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19099237 19099238 rs537239079 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19099298 19099299 rs144526630 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19099299 19099300 rs772219362 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099319 19099320 rs775429703 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099349 19099350 rs747256452 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19099355 19099356 rs181439969 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19099392 19099393 rs569695147 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19099400 19099401 rs540963092 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19099404 19099405 rs552865923 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19099415 19099416 rs184926433 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19099446 19099447 rs545077001 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19099460 19099461 rs747154730 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099464 19099465 rs139771243 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19099532 19099533 rs145321535 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19099534 19099535 rs762815926 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19099553 19099554 rs2298403 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.145642 0.227177 unknown exact 1 16 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 4612.000000,396.000000, 0.920927,0.079074, maf-5-some-pop 730 chr21 19099603 19099604 rs538339563 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19099608 19099609 rs7281593 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.172674 0.237741 unknown exact 1 17 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 478.000000,4530.000000, 0.095447,0.904553, maf-5-some-pop 730 chr21 19099615 19099616 rs528710326 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19099621 19099622 rs547285764 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19099622 19099623 rs571702831 0 + G G A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099647 19099648 rs147216336 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19099657 19099658 rs774218747 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19099691 19099692 rs117404122 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19099727 19099728 rs551128596 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19099735 19099736 rs570613881 0 + T T A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 730 chr21 19099742 19099743 rs569728477 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19099822 19099823 rs536772353 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19099847 19099848 rs8134073 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,WI_SSAHASNP, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 730 chr21 19099870 19099871 rs183105915 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 730 chr21 19099882 19099883 rs8129782 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.084 0.186933 unknown exact 1 8 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,HGSV,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 220.000000,4788.000000, 0.043930,0.956070, maf-5-some-pop 730 chr21 19099893 19099894 rs114723680 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4922.000000,86.000000, 0.982827,0.017173, 730 chr21 19099899 19099900 rs374803199 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19099906 19099907 rs2298404 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.379354 0.213933 unknown exact 1 28 1000GENOMES,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 A,G, 1274.000000,3734.000000, 0.254393,0.745607, maf-5-some-pop 730 chr21 19099919 19099920 rs539014118 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19099920 19099921 rs140330706 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19099922 19099923 rs2405646 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.084 0.186933 unknown exact 1 15 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4788.000000,220.000000, 0.956070,0.043930, maf-5-some-pop 730 chr21 19099968 19099969 rs1123018 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.172674 0.237741 unknown exact 1 MixedObserved 20 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 478.000000,4530.000000, 0.095447,0.904553, maf-5-some-pop 730 chr21 19099968 19099969 rs767536265 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19100049 19100050 rs757629375 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19100050 19100051 rs142048918 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19100118 19100119 rs561388984 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19100123 19100124 rs13047084 0 + C C C/T genomic single by-cluster,by-2hit-2allele 0.5 0 unknown exact 1 4 ABI,HUMANGENOME_JCVI,PJP,SSAHASNP, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19100141 19100142 rs758968728 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19100172 19100172 rs34872050 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19100174 19100176 rs374291709 0 + GG GG -/GG genomic deletion by-cluster 0 0 unknown range 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 0 observed-mismatch 730 chr21 19100175 19100176 rs2154674 0 + G G C/G/T genomic single by-cluster,by-2hit-2allele 0.18 0.24 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 18 BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,TISHKOFF,TSC-CSHL, 2 G,T, 1.000000,9.000000, 0.100000,0.900000, 730 chr21 19100175 19100185 rs368246182 0 + GTTTTTTTTT GTTTTTTTTT -/GTTTTTTTTT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 4 HGSV,PADH-LAB_SPU,SSIP,SSMP, 0 observed-mismatch 730 chr21 19100175 19100180 rs374354968 0 + GTTTT GTTTT -/GTTTT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 HGSV, 0 observed-mismatch 730 chr21 19100175 19100182 rs377136219 0 + GTTTTTT GTTTTTT -/GTTTTTT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 TSC-CSHL, 0 observed-mismatch 730 chr21 19100175 19100176 rs765741747 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 observed-mismatch 730 chr21 19100176 19100176 rs201305702 0 + - - -/CGC genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 730 chr21 19100197 19100198 rs71189560 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 730 chr21 19100210 19100211 rs780761766 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19100230 19100231 rs576071371 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19100248 19100249 rs1552595 0 - T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.08108 0.184299 unknown exact 1 14 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,PJP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 4796.000000,212.000000, 0.957668,0.042332, maf-5-some-pop 730 chr21 19100308 19100309 rs59659793 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 3 HGSV,HUMANGENOME_JCVI,PJP, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19100325 19100328 rs72155460 0 + ACT ACT -/ACT genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 730 chr21 19100326 19100327 rs780662251 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19100327 19100336 rs140574962 0 + TACACCCGG TACACCCGG -/TACACCCGG genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 MixedObserved 2 1000GENOMES,SSMP, 0 730 chr21 19100327 19100337 rs386816702 0 + TACACCCGGC TACACCCGGC A/TACACCCGGC genomic in-del by-cluster 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19100329 19100337 rs57963695 0 + CACCCGGC CACCCGGC -/CACCCGGC genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 0 730 chr21 19100333 19100334 rs186186622 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19100336 19100337 rs796916253 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19100410 19100411 rs190989668 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19100419 19100420 rs532737817 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19100431 19100432 rs243633 0 - T T A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19100460 19100461 rs7277509 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 5 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA_DECODE,HAMMER_LAB, 2 G,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19100463 19100464 rs7282989 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.046014 0.144533 unknown exact 1 7 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 118.000000,4890.000000, 0.023562,0.976438, maf-5-some-pop 730 chr21 19100486 19100487 rs548642587 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19100497 19100498 rs748385209 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19100501 19100502 rs567028547 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19100538 19100539 rs534472249 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19100544 19100545 rs546430984 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19100582 19100586 rs143152161 0 + GTAT GTAT -/GTAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 unknown range 1 MixedObserved 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,GTAT, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 730 chr21 19100582 19100583 rs183661101 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19100588 19100589 rs796973680 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19100595 19100596 rs774124869 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19100611 19100612 rs77105402 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 730 chr21 19100642 19100643 rs112469036 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 unknown exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4941.000000,67.000000, 0.986621,0.013379, 730 chr21 19100689 19100690 rs188536131 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19100700 19100701 rs775516980 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19100717 19100718 rs191259337 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19100731 19100732 rs569515922 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19100756 19100757 rs75603428 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 730 chr21 19100783 19100784 rs748265082 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19100784 19100785 rs573413297 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19100799 19100800 rs151174680 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19100804 19100805 rs559221089 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19100826 19100827 rs577447995 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19100828 19100829 rs111597149 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 4910.000000,98.000000, 0.980431,0.019569, maf-5-some-pop 730 chr21 19100907 19100908 rs115605273 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.019006 0.095768 unknown exact 1 SingleClassTriAllelic 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 3 A,G,T, 4960.000000,42.000000,6.000000, 0.990415,0.008387,0.001198, 730 chr21 19100937 19100938 rs28450285 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.192088 0.2432 unknown exact 1 12 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4469.000000,539.000000, 0.892372,0.107628, maf-5-some-pop 730 chr21 19100943 19100944 rs78309359 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 4897.000000,111.000000, 0.977835,0.022164, maf-5-some-pop 730 chr21 19101009 19101010 rs565379290 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19101026 19101027 rs750796199 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101047 19101048 rs572101499 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101048 19101049 rs2824461 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498589 0.02652 unknown exact 1 29 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2637.000000,2371.000000, 0.526558,0.473442, maf-5-some-pop 730 chr21 19101122 19101128 rs144770012 0 + CAGAGG CAGAGG -/CAGAGG genomic deletion by-cluster,by-frequency,by-1000genomes 0.115788 0.21092 unknown range 1 9 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER, 2 -,CAGAGG, 309.000000,4699.000000, 0.061701,0.938299, maf-5-some-pop 730 chr21 19101123 19101129 rs370161209 0 + AGAGGC AGAGGC -/AGAGGC genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 730 chr21 19101165 19101166 rs9974109 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.094497 0.195752 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 249.000000,4759.000000, 0.049720,0.950280, maf-5-some-pop 730 chr21 19101177 19101178 rs79707337 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19101204 19101205 rs140158350 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19101210 19101211 rs754958845 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101223 19101224 rs781321999 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101226 19101227 rs569142101 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19101260 19101261 rs536241783 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19101261 19101262 rs555046262 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19101300 19101301 rs374130400 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19101313 19101314 rs243634 0 - G G A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19101321 19101322 rs769970555 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101334 19101335 rs534320947 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19101335 19101336 rs778016818 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101377 19101378 rs745609807 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101385 19101386 rs771928640 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101411 19101412 rs775223032 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101423 19101424 rs369617536 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19101479 19101480 rs117836163 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19101480 19101481 rs113483983 0 + T T C/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 C, 1.000000, 1.000000, 730 chr21 19101522 19101523 rs577341419 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19101538 19101539 rs150037678 0 + A A A/G genomic single by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 730 chr21 19101557 19101558 rs556541525 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19101562 19101563 rs117557151 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19101566 19101567 rs112315714 0 + G G G/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19101576 19101577 rs542212449 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19101583 19101584 rs560578768 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19101607 19101608 rs146592403 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19101660 19101661 rs761459160 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101670 19101671 rs539912597 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19101692 19101693 rs1003656 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.481627 0.094069 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2024.000000,2984.000000, 0.404153,0.595847, maf-5-some-pop,maf-5-all-pops 730 chr21 19101698 19101699 rs532166323 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19101701 19101702 rs141347113 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 730 chr21 19101702 19101703 rs79303674 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.144969 0.226867 unknown exact 1 15 1000GENOMES,BL,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 394.000000,4614.000000, 0.078674,0.921326, maf-5-some-pop 730 chr21 19101736 19101737 rs565784077 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19101747 19101748 rs7275711 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.211516 0.24702 unknown exact 1 11 1000GENOMES,BCM_SSAHASNP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4406.000000,602.000000, 0.879792,0.120208, maf-5-some-pop 730 chr21 19101774 19101775 rs77856281 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,G, 4876.000000,132.000000, 0.973642,0.026358, maf-5-some-pop 730 chr21 19101782 19101783 rs145182470 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19101836 19101837 rs776266693 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19101849 19101850 rs796209101 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19101851 19101852 rs751929337 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19101867 19101868 rs139004921 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19101903 19101904 rs78410901 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,GMI, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19101907 19101908 rs143638257 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19101935 19101936 rs755508285 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19102089 19102090 rs148116274 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19102094 19102095 rs141868077 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 730 chr21 19102107 19102108 rs556764382 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19102141 19102142 rs183007240 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19102142 19102143 rs781691179 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19102143 19102144 rs186681342 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19102146 19102146 rs761457204 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 730 chr21 19102154 19102155 rs115447952 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19102170 19102171 rs111975291 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102179 19102180 rs73312246 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB, 2 A,C, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19102288 19102289 rs752748250 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19102291 19102292 rs756204750 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19102363 19102364 rs572458271 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19102367 19102368 rs183922455 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19102384 19102385 rs2824462 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.47934 0.099515 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3013.000000,1995.000000, 0.601637,0.398363, maf-5-some-pop,maf-5-all-pops 730 chr21 19102418 19102418 rs200301796 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown between 1 2 1000GENOMES,HAMMER_LAB, 2 -,A, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19102443 19102444 rs867038055 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19102463 19102464 rs576918719 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19102495 19102496 rs375554126 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19102496 19102497 rs369765286 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19102499 19102500 rs373522007 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19102500 19102501 rs376391366 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 BILGI_BIOE,EVA-GONL,EVA_GENOME_DK, 0 730 chr21 19102501 19102502 rs369756249 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19102506 19102507 rs111667691 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 COMPLETE_GENOMICS,HAMMER_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102513 19102514 rs243639 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap 0.444444 0.157135 unknown exact 1 5 COMPLETE_GENOMICS,CSHL-HAPMAP,HAMMER_LAB,HGSV,KWOK, 2 C,T, 4.000000,2.000000, 0.666667,0.333333, 730 chr21 19102535 19102536 rs181705 0 - C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.46875 0.121031 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,KWOK,SEQUENOM,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 3.000000,5.000000, 0.375000,0.625000, 730 chr21 19102549 19102550 rs536541795 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19102552 19102553 rs372573303 0 + G G G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BILGI_BIOE, 0 730 chr21 19102552 19102556 rs386816703 0 + GGCA GGCA GGCA/TACG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19102553 19102554 rs375605621 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19102555 19102556 rs370522259 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19102558 19102559 rs111607076 0 + T T C/T genomic single by-cluster,by-frequency 0.5 0 unknown exact 1 2 COMPLETE_GENOMICS,HAMMER_LAB, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 730 chr21 19102564 19102565 rs243640 0 - C C G/T genomic single by-cluster,by-frequency,by-hapmap 0.5 0 unknown exact 1 8 COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,HAMMER_LAB,HGSV,KWOK,SSAHASNP,SSMP, 2 G,T, 3.000000,3.000000, 0.500000,0.500000, 730 chr21 19102579 19102580 rs243635 0 - G G C/G genomic single by-cluster,by-frequency 0.46875 0.121031 unknown exact 1 13 BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,GMI,HAMMER_LAB,HUMANGENOME_JCVI,KWOK,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 5.000000,3.000000, 0.625000,0.375000, 730 chr21 19102602 19102603 rs171478 0 - A A A/T genomic single by-cluster,by-frequency,by-hapmap 0.5 0 unknown exact 1 12 BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,GMI,HAMMER_LAB,HGSV,KWOK,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 3.000000,3.000000, 0.500000,0.500000, 730 chr21 19102613 19102614 rs377171650 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19102620 19102621 rs71897171 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 3 HAMMER_LAB,LUNTER,SSMP, 0 730 chr21 19102635 19102637 rs796791126 0 + TG TG ATT/TG genomic in-del unknown 0 0 unknown rangeInsertion 1 FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 730 chr21 19102636 19102637 rs13050750 0 + G G G/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 2 ENSEMBL,SSAHASNP, 1 T, 2.000000, 1.000000, 730 chr21 19102641 19102642 rs75227782 0 + T T G/T genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102641 19102645 rs796447653 0 + TAGC TAGC GGGG/TAGC genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 730 chr21 19102642 19102643 rs79608003 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102644 19102645 rs76795379 0 + C C C/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102647 19102648 rs74903539 0 + G G A/G genomic single by-cluster 0.375 0.216506 unknown exact 1 3 COMPLETE_GENOMICS,ENSEMBL,HAMMER_LAB, 2 A,G, 3.000000,1.000000, 0.750000,0.250000, 730 chr21 19102649 19102650 rs556489084 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19102653 19102654 rs562735066 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19102654 19102655 rs529928691 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19102655 19102656 rs187809591 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19102657 19102658 rs243636 0 - G G A/C/G/T genomic single by-cluster,by-frequency 0.46875 0.121031 unknown exact 1 SingleClassQuadAllelic,InconsistentAlleles 6 COMPLETE_GENOMICS,ENSEMBL,KWOK,SEQUENOM,SSAHASNP,TSC-CSHL, 2 A,G, 5.000000,3.000000, 0.625000,0.375000, rs-cluster-nonoverlapping-alleles 730 chr21 19102663 19102664 rs755526977 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19102670 19102671 rs560466850 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19102676 19102677 rs4133606 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 MixedObserved 4 ENSEMBL,SSAHASNP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102676 19102678 rs796837807 0 + CA CA CA/TG genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 730 chr21 19102677 19102678 rs13052017 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 3 ENSEMBL,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102690 19102691 rs527647385 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19102698 19102699 rs200756915 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19102701 19102702 rs202046116 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19102713 19102714 rs111687956 0 + G G A/G genomic single by-cluster,by-frequency 0.5 0 unknown exact 1 3 COMPLETE_GENOMICS,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 730 chr21 19102716 19102717 rs377518021 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 3 BILGI_BIOE,HAMMER_LAB,TISHKOFF, 0 730 chr21 19102723 19102724 rs243637 0 - T T A/C genomic single by-cluster 0.5 0 unknown exact 1 3 COMPLETE_GENOMICS,HAMMER_LAB,KWOK, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19102738 19102739 rs374750965 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BILGI_BIOE, 0 730 chr21 19102738 19102740 rs796408675 0 + TC TC CG/TC genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 730 chr21 19102739 19102740 rs376826539 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19102740 19102741 rs193161288 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,GMI,HAMMER_LAB,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19102742 19102743 rs570856160 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19102749 19102750 rs243638 0 - T T A/C/G/T genomic single unknown 0 0 unknown exact 1 SingleClassQuadAllelic 2 KWOK,SEQUENOM, 0 rs-cluster-nonoverlapping-alleles 730 chr21 19102764 19102765 rs538364534 0 + A A A/G genomic single by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 1 1000GENOMES, 2 A,G, 4969.000000,39.000000, 0.992212,0.007788, 730 chr21 19102771 19102772 rs767714562 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19102777 19102778 rs550092038 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19102778 19102779 rs568282383 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19102789 19102789 rs572642990 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.207253 0.246318 unknown between 1 1 1000GENOMES, 2 -,A, 4420.000000,588.000000, 0.882588,0.117412, maf-5-some-pop 730 chr21 19102793 19102795 rs796205617 0 + AA AA AA/T genomic in-del unknown 0 0 unknown rangeDeletion 1 FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 730 chr21 19102794 19102795 rs866730548 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19102803 19102804 rs868778703 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19102807 19102808 rs866508177 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19102816 19102817 rs756280087 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19102817 19102817 rs753107185 0 + - - -/GT genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 730 chr21 19102819 19102820 rs538537099 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19102853 19102854 rs535654750 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19102869 19102870 rs116476418 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4957.000000,51.000000, 0.989816,0.010184, 730 chr21 19102879 19102880 rs572445663 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19102882 19102884 rs776441107 0 + TG TG -/TG genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 730 chr21 19102913 19102914 rs533551184 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19102978 19102979 rs140580283 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103000 19103001 rs569665045 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19103011 19103012 rs778021026 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19103025 19103026 rs576846462 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103047 19103048 rs771705293 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103048 19103049 rs544259365 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103061 19103062 rs779884448 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103068 19103069 rs746844584 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103071 19103072 rs562463474 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19103164 19103165 rs574640412 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19103181 19103182 rs768618006 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103183 19103184 rs542058341 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103184 19103185 rs539030250 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19103238 19103239 rs749338801 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19103241 19103242 rs776733540 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103252 19103253 rs149248710 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19103257 19103258 rs7276106 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.268452 0.249318 unknown exact 1 15 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4208.000000,800.000000, 0.840256,0.159744, maf-5-some-pop 730 chr21 19103278 19103279 rs7280031 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.223522 0.248594 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 642.000000,4366.000000, 0.128195,0.871805, maf-5-some-pop 730 chr21 19103298 19103299 rs375543096 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 MixedObserved 4 1000GENOMES,EVA_DECODE,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19103298 19103319 rs745433390 0 + CTTTACAAGAGAAACTACAAT CTTTACAAGAGAAACTACAAT -/CTTTACAAGAGAAACTACAAT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103393 19103394 rs772053076 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19103405 19103406 rs762658654 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103428 19103429 rs200754369 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19103429 19103430 rs116775237 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19103457 19103458 rs550221860 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103463 19103464 rs114912437 0 + G G G/T genomic single by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 1 1000GENOMES, 2 G,T, 4976.000000,32.000000, 0.993610,0.006390, 730 chr21 19103464 19103465 rs775145056 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19103469 19103470 rs190034383 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103491 19103492 rs547631090 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19103495 19103496 rs566010827 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103508 19103509 rs558745838 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19103513 19103514 rs540157266 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103533 19103534 rs74747240 0 + G G G/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19103550 19103551 rs570397573 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103570 19103571 rs77170190 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19103590 19103591 rs556255242 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19103597 19103598 rs574628099 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19103618 19103619 rs751924355 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19103619 19103620 rs759864217 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103655 19103656 rs767960970 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19103715 19103716 rs144419927 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19103729 19103730 rs181107930 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,TISHKOFF, 0 730 chr21 19103746 19103747 rs554040498 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19103747 19103748 rs572354843 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19103787 19103788 rs371763424 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19103863 19103864 rs558458401 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19103873 19103877 rs145425931 0 + TCAG TCAG -/TCAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 unknown range 1 2 1000GENOMES,LUNTER, 2 -,TCAG, 98.000000,4910.000000, 0.019569,0.980431, maf-5-some-pop 730 chr21 19103874 19103875 rs546044911 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19103880 19103881 rs34910491 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 730 chr21 19103880 19103884 rs368233685 0 + GTCA GTCA -/GTCA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 TISHKOFF, 0 730 chr21 19103882 19103883 rs34437081 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19103885 19103886 rs35677582 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19103887 19103888 rs34819725 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19103913 19103914 rs34455877 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19103943 19103944 rs114470753 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 730 chr21 19103984 19103989 rs545775771 0 + ATGTC ATGTC -/ATGTC genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 unknown range 1 1 1000GENOMES, 2 -,ATGTC, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19104038 19104038 rs199571121 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.227959 0.249026 unknown between 1 2 1000GENOMES,EVA_DECODE, 2 -,T, 4351.000000,657.000000, 0.868810,0.131190, maf-5-some-pop 730 chr21 19104042 19104042 rs58644124 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19104045 19104046 rs572522293 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19104047 19104048 rs184035765 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19104050 19104054 rs200942416 0 + CTAA CTAA -/CTAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.226188 0.248863 unknown range 1 2 1000GENOMES,EVA_DECODE, 2 -,CTAA, 651.000000,4357.000000, 0.129992,0.870008, maf-5-some-pop 730 chr21 19104052 19104056 rs61253978 0 + AACT AACT -/AACT genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 730 chr21 19104061 19104062 rs188673021 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19104063 19104063 rs397969692 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19104064 19104064 rs57625565 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 730 chr21 19104069 19104070 rs57752887 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19104070 19104071 rs57311179 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19104074 19104078 rs200338578 0 + TTTA TTTA -/TTTA genomic deletion by-cluster 0 0 unknown range 1 DuplicateObserved 4 BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 730 chr21 19104074 19104074 rs71333593 0 + - - -/TTTA genomic insertion by-cluster,by-frequency,by-1000genomes 0.499954 0.004792 unknown between 1 DuplicateObserved 5 1000GENOMES,DDI,EVA_GENOME_DK,HUMANGENOME_JCVI,SSMP, 2 -,TTTA, 2480.000000,2528.000000, 0.495208,0.504792, maf-5-some-pop,maf-5-all-pops 730 chr21 19104075 19104075 rs71189561 0 + - - -/TTAT genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 730 chr21 19104076 19104077 rs58080899 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19104078 19104078 rs759044583 0 + - - -/TTTA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19104082 19104082 rs137903234 0 + - - -/ATTT genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19104098 19104099 rs180752594 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 0 730 chr21 19104102 19104103 rs867814553 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19104107 19104108 rs77889990 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19104109 19104109 rs142346045 0 + - - -/TATT genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 730 chr21 19104110 19104111 rs75093392 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19104119 19104119 rs398036178 0 + - - -/TTAT genomic insertion unknown 0 0 unknown between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 TTAT, 2.000000, 1.000000, 730 chr21 19104128 19104129 rs185244497 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.005578 0.052553 unknown exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 11.000000,3.000000,4994.000000, 0.002196,0.000599,0.997204, 730 chr21 19104198 19104199 rs547566234 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19104206 19104207 rs372169444 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19104241 19104242 rs577944084 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,SSIP,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19104271 19104272 rs35579491 0 + T T -/T genomic deletion by-cluster 0.375 0.216506 unknown exact 1 3 EVA_GENOME_DK,HUMANGENOME_JCVI,PJP, 2 -,T, 3.000000,1.000000, 0.750000,0.250000, 730 chr21 19104291 19104292 rs397867384 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19104296 19104297 rs867105036 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19104298 19104299 rs759890938 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19104313 19104314 rs375462293 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19104325 19104326 rs181923951 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 730 chr21 19104339 19104340 rs867496516 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19104343 19104344 rs9983816 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.22263 0.248497 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,HAMMER_LAB,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4369.000000,639.000000, 0.872404,0.127596, maf-5-some-pop 730 chr21 19104355 19104361 rs199706291 0 + GCTCCG GCTCCG -/GCTCCG genomic deletion unknown 0 0 unknown range 1 1 GMI, 0 730 chr21 19104375 19104376 rs142586726 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.090169 0.192235 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 237.000000,4771.000000, 0.047324,0.952676, maf-5-some-pop 730 chr21 19104399 19104400 rs756116912 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19104421 19104422 rs375085943 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19104436 19104437 rs764171901 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19104439 19104440 rs192251152 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00558 0.052524 unknown exact 1 1 1000GENOMES, 2 A,T, 4990.000000,14.000000, 0.997202,0.002798, 730 chr21 19104440 19104440 rs569904207 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001601 0.028245 unknown between 1 1 1000GENOMES, 2 -,T, 4990.000000,4.000000, 0.999199,0.000801, 730 chr21 19104448 19104449 rs753920492 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19104488 19104489 rs757497087 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19104498 19104499 rs182160262 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,GMI,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19104509 19104510 rs556243124 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19104541 19104542 rs146450019 0 + A A A/C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19104565 19104566 rs113787146 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19104568 19104569 rs554788332 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19104578 19104579 rs73312252 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.223225 0.248562 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 641.000000,4367.000000, 0.127995,0.872005, maf-5-some-pop 730 chr21 19104613 19104614 rs73204439 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 unknown exact 1 9 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 730 chr21 19104629 19104633 rs760485974 0 + ATAA ATAA -/ATAA genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 730 chr21 19104653 19104654 rs146883452 0 + T T A/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 MixedObserved 2 1000GENOMES,JMKIDD_LAB, 0 730 chr21 19104653 19104653 rs372753520 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 TISHKOFF, 0 730 chr21 19104656 19104657 rs374465532 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19104688 19104689 rs186774484 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19104856 19104857 rs558022561 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19104857 19104858 rs191669736 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19104924 19104925 rs543389272 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19104968 19104969 rs563585373 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19104979 19104980 rs754014285 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19105032 19105033 rs201623845 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19105083 19105084 rs140583493 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19105090 19105091 rs2824463 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.223819 0.248625 unknown exact 1 17 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 643.000000,4365.000000, 0.128395,0.871605, maf-5-some-pop 730 chr21 19105155 19105156 rs571388866 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19105185 19105186 rs541095899 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19105189 19105190 rs559422649 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19105197 19105198 rs770591687 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19105238 19105239 rs533527663 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19105240 19105241 rs182556140 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19105252 19105253 rs570327279 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19105283 19105284 rs778792152 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19105284 19105285 rs746029313 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19105323 19105324 rs758257392 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19105333 19105334 rs531137667 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19105342 19105343 rs545808025 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19105344 19105345 rs2032289 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.453575 0.145111 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3267.000000,1741.000000, 0.652356,0.347644, maf-5-some-pop 730 chr21 19105371 19105372 rs767869249 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19105378 19105379 rs2032290 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.453575 0.145111 unknown exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3267.000000,1741.000000, 0.652356,0.347644, maf-5-some-pop 730 chr21 19105391 19105392 rs187109701 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19105396 19105397 rs535466851 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19105415 19105416 rs190356924 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19105432 19105433 rs565649781 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19105452 19105453 rs539615029 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19105476 19105477 rs67462829 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.193028 0.243422 unknown exact 1 19 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 542.000000,4466.000000, 0.108227,0.891773, maf-5-some-pop 730 chr21 19105485 19105486 rs182296136 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19105522 19105523 rs567520450 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19105542 19105542 rs530237493 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 730 chr21 19105565 19105566 rs536913671 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19105595 19105596 rs550018769 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19105633 19105634 rs555263691 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19105635 19105636 rs757307630 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19105640 19105641 rs541622903 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19105674 19105675 rs186957456 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19105741 19105742 rs193215509 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19105745 19105746 rs559789378 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19105752 19105753 rs376705652 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 730 chr21 19105753 19105754 rs185574201 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19105759 19105760 rs150403707 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19105787 19105788 rs563763893 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19105798 19105799 rs8127729 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.224412 0.248687 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 645.000000,4363.000000, 0.128794,0.871206, maf-5-some-pop 730 chr21 19105805 19105806 rs145219860 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19105826 19105827 rs754763919 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19105845 19105846 rs8129448 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.456803 0.140473 unknown exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 3240.000000,1768.000000, 0.646965,0.353035, maf-5-some-pop 730 chr21 19105911 19105912 rs528855381 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19105948 19105949 rs756094822 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19105982 19105983 rs547461782 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19105983 19105984 rs565743927 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19106111 19106112 rs149135853 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19106126 19106130 rs771208057 0 + TCTT TCTT -/TCTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19106139 19106140 rs59684881 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.227959 0.249026 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 657.000000,4351.000000, 0.131190,0.868810, maf-5-some-pop 730 chr21 19106235 19106236 rs569723443 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19106240 19106240 rs558888183 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown between 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19106282 19106283 rs770374555 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19106333 19106334 rs536850499 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19106344 19106345 rs11910153 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.227959 0.249026 unknown exact 1 15 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 657.000000,4351.000000, 0.131190,0.868810, maf-5-some-pop 730 chr21 19106415 19106416 rs573636534 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19106424 19106425 rs117461533 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19106425 19106426 rs200179159 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19106445 19106446 rs565973070 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19106450 19106452 rs201778425 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AG, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19106527 19106528 rs578038105 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19106537 19106538 rs188517668 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19106546 19106547 rs376118387 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19106591 19106592 rs764384714 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19106592 19106593 rs771768054 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19106595 19106596 rs192867675 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19106620 19106621 rs184422747 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19106621 19106622 rs141404773 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 MixedObserved 2 1000GENOMES,LUNTER, 2 -,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19106621 19106622 rs188522649 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 MixedObserved 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19106673 19106674 rs535112333 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19106680 19106681 rs543255208 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19106681 19106682 rs561560664 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19106686 19106686 rs11394498 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 15 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19106689 19106689 rs397793265 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 BGI, 0 730 chr21 19106690 19106690 rs397687713 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 A, 2.000000, 1.000000, 730 chr21 19106725 19106726 rs528820643 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19106783 19106784 rs761066817 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19106799 19106800 rs79689979 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19106813 19106814 rs181325186 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19106818 19106819 rs559048905 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19106889 19106890 rs532965561 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19106914 19106915 rs551142940 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19106989 19106990 rs243641 0 - C C G/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19107010 19107011 rs80276121 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19107016 19107018 rs137892577 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 unknown range 1 2 1000GENOMES,LUNTER, 2 -,TG, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 730 chr21 19107027 19107028 rs777035995 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19107033 19107034 rs867369204 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19107062 19107063 rs183484426 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19107075 19107076 rs374346746 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19107097 19107098 rs570054283 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 DuplicateObserved 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19107097 19107097 rs578136221 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 SSIP, 0 730 chr21 19107101 19107102 rs548813121 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19107127 19107128 rs146621460 0 + A A A/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 A,T, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19107142 19107143 rs765555549 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19107167 19107168 rs139117750 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19107181 19107182 rs143650802 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 730 chr21 19107201 19107202 rs571525816 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19107274 19107275 rs539028480 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19107339 19107340 rs765246817 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19107474 19107478 rs753601275 0 + TTTC TTTC -/TTTC genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 730 chr21 19107532 19107533 rs750576538 0 + A A A/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19107533 19107535 rs140759566 0 + CT CT -/CT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 3 1000GENOMES,LUNTER,SSMP, 0 730 chr21 19107534 19107535 rs766750060 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19107542 19107543 rs557137130 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19107619 19107620 rs575850428 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19107629 19107630 rs758544548 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19107640 19107644 rs549733247 0 + TCTT TCTT -/TCTT genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 unknown range 1 1 1000GENOMES, 2 -,TCTT, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19107706 19107707 rs75469823 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19107709 19107710 rs79391831 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19107710 19107711 rs75899567 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19107784 19107785 rs752521859 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19107792 19107793 rs755991828 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19107932 19107932 rs11447518 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 unknown between 1 14 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,TISHKOFF, 2 -,T, 81.000000,4927.000000, 0.016174,0.983826, 730 chr21 19107941 19107941 rs397703790 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 4 ABI,GMI,HGSV,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 730 chr21 19107945 19107946 rs189182053 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19107961 19107962 rs555234448 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19107985 19107986 rs145915218 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 730 chr21 19107992 19107993 rs540539463 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19108015 19108016 rs796280923 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19108016 19108017 rs138937234 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.132207 0.222034 unknown exact 1 SingleClassTriAllelic 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 3 A,G,T, 18.000000,4653.000000,337.000000, 0.003594,0.929113,0.067292, 730 chr21 19108067 19108068 rs545028041 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108134 19108135 rs563039361 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108141 19108142 rs9980233 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.229723 0.249176 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4345.000000,663.000000, 0.867612,0.132388, maf-5-some-pop 730 chr21 19108166 19108167 rs28716155 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.229429 0.249152 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4346.000000,662.000000, 0.867812,0.132188, maf-5-some-pop 730 chr21 19108178 19108179 rs557265357 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19108183 19108184 rs866490027 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19108184 19108185 rs528310677 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108212 19108213 rs577047130 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19108213 19108214 rs778272792 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19108215 19108216 rs546534330 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19108218 19108219 rs28684630 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.215068 0.248946 unknown exact 1 SingleClassTriAllelic 11 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 3 C,G,T, 4396.000000,11.000000,601.000000, 0.877796,0.002196,0.120008, maf-5-some-pop,maf-5-all-pops 730 chr21 19108265 19108266 rs557374300 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108271 19108272 rs769315648 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19108281 19108282 rs370123959 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19108340 19108341 rs182269125 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19108343 19108344 rs545814736 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19108391 19108392 rs569356678 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19108463 19108464 rs116483144 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 730 chr21 19108486 19108487 rs555120113 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19108499 19108500 rs573427834 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19108510 19108511 rs367740289 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19108519 19108520 rs543371328 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19108537 19108538 rs779730233 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19108538 19108539 rs149452536 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19108576 19108577 rs187273381 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19108586 19108587 rs2824465 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.229723 0.249176 unknown exact 1 15 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4345.000000,663.000000, 0.867612,0.132388, maf-5-some-pop 730 chr21 19108607 19108608 rs2824466 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.229723 0.249176 unknown exact 1 17 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 663.000000,4345.000000, 0.132388,0.867612, maf-5-some-pop 730 chr21 19108627 19108628 rs145976593 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19108633 19108633 rs796141887 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HAMMER_LAB, 0 730 chr21 19108659 19108660 rs574909284 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108700 19108701 rs528123094 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19108712 19108713 rs542287392 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108722 19108723 rs762214363 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19108726 19108727 rs560655101 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19108796 19108797 rs770401578 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19108822 19108823 rs773136543 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19108865 19108866 rs139848250 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,T, 4968.000000,40.000000, 0.992013,0.007987, 730 chr21 19108908 19108909 rs2824467 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.229723 0.249176 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4345.000000,663.000000, 0.867612,0.132388, maf-5-some-pop 730 chr21 19108909 19108910 rs565031733 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108924 19108925 rs143809342 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19108936 19108937 rs751859159 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19108948 19108949 rs192446260 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19109014 19109015 rs116226297 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19109015 19109015 rs561454515 0 + - - -/TGT genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 730 chr21 19109035 19109036 rs530195161 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 730 chr21 19109039 19109040 rs763807924 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109049 19109050 rs536647645 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19109055 19109056 rs567150941 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19109084 19109085 rs181531512 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19109143 19109144 rs776967974 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19109171 19109172 rs753722386 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109184 19109185 rs567011543 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19109226 19109227 rs534127624 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19109235 19109236 rs9983800 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.229723 0.249176 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4345.000000,663.000000, 0.867612,0.132388, maf-5-some-pop 730 chr21 19109237 19109238 rs546591365 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19109260 19109261 rs765344528 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19109272 19109273 rs778948053 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109295 19109296 rs749912208 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109296 19109297 rs377083807 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19109324 19109325 rs538498340 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19109332 19109333 rs9637034 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.292266 0.246401 unknown exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 890.000000,4118.000000, 0.177716,0.822284, maf-5-some-pop 730 chr21 19109347 19109348 rs117471257 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4898.000000,110.000000, 0.978035,0.021965, maf-5-some-pop 730 chr21 19109388 19109389 rs532824682 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19109390 19109391 rs73892667 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 1 ILLUMINA-UK, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19109398 19109399 rs768415609 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109401 19109402 rs186278111 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19109411 19109412 rs2824468 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.229723 0.249176 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 663.000000,4345.000000, 0.132388,0.867612, maf-5-some-pop 730 chr21 19109435 19109436 rs17002035 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,PERLEGEN, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 730 chr21 19109472 19109473 rs374883739 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19109475 19109476 rs532226538 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19109476 19109477 rs146833472 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19109492 19109493 rs767617818 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19109575 19109576 rs201027386 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 730 chr21 19109590 19109591 rs114901108 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 730 chr21 19109591 19109592 rs534164470 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19109625 19109626 rs148219946 0 + C C -/C genomic deletion by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19109626 19109627 rs71319659 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 HUMANGENOME_JCVI, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19109649 19109655 rs752511609 0 + GAGACA GAGACA -/GAGACA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_DECODE,HAMMER_LAB, 0 730 chr21 19109652 19109658 rs61155841 0 + ACAGAG ACAGAG -/ACAGAG genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 730 chr21 19109665 19109666 rs552633374 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19109666 19109667 rs548648337 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.229723 0.249176 unknown exact 1 MixedObserved 2 1000GENOMES,EVA_DECODE, 2 C,T, 663.000000,4345.000000, 0.132388,0.867612, maf-5-some-pop 730 chr21 19109666 19109668 rs796823049 0 + TG TG CT/TG genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 730 chr21 19109667 19109668 rs566829305 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.232359 0.249377 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 G,T, 4336.000000,672.000000, 0.865815,0.134185, maf-5-some-pop 730 chr21 19109670 19109671 rs7280346 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.45574 0.142025 unknown exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3249.000000,1759.000000, 0.648762,0.351238, maf-5-some-pop 730 chr21 19109723 19109724 rs553881707 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19109726 19109727 rs190219600 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19109731 19109732 rs763090567 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109773 19109774 rs756864313 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19109777 19109778 rs570997395 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19109822 19109823 rs182719404 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19109823 19109824 rs185905762 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19109851 19109852 rs535019035 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109854 19109855 rs190873162 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19109855 19109856 rs745442666 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19109861 19109862 rs182981057 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19109865 19109866 rs554173892 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19109871 19109872 rs142996823 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19109927 19109928 rs774655031 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19109929 19109930 rs548668704 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19109944 19109945 rs540293540 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19109948 19109949 rs188681032 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19109968 19109969 rs558369675 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19109974 19109975 rs192679953 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19109985 19109986 rs544458754 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19110017 19110018 rs767845520 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110027 19110028 rs776256248 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110029 19110030 rs562768192 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19110034 19110035 rs530043780 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19110063 19110064 rs542227690 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19110074 19110075 rs560505425 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19110106 19110107 rs115969681 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19110126 19110127 rs552594231 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19110139 19110140 rs570866288 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19110150 19110151 rs151112260 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19110156 19110157 rs761716947 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110176 19110177 rs550010881 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19110219 19110220 rs765034200 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110275 19110276 rs370768491 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19110306 19110307 rs2824469 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.192401 0.243274 unknown exact 1 25 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 540.000000,4468.000000, 0.107827,0.892173, maf-5-some-pop 730 chr21 19110402 19110403 rs757845860 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110420 19110421 rs8127289 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.229723 0.249176 unknown exact 1 17 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4345.000000,663.000000, 0.867612,0.132388, maf-5-some-pop 730 chr21 19110450 19110451 rs554187837 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19110453 19110454 rs78533856 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19110456 19110457 rs199740555 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19110493 19110494 rs533559185 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19110515 19110516 rs558608749 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19110522 19110523 rs146313381 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 730 chr21 19110523 19110524 rs751138338 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110594 19110595 rs8127071 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.230017 0.2492 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 664.000000,4344.000000, 0.132588,0.867412, maf-5-some-pop 730 chr21 19110595 19110596 rs780948795 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110629 19110630 rs763163913 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19110666 19110667 rs556426387 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19110679 19110680 rs574701595 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19110732 19110733 rs756536961 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110769 19110770 rs2824470 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.465683 0.126415 unknown exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 1848.000000,3160.000000, 0.369010,0.630990, maf-5-some-pop 730 chr21 19110788 19110789 rs577006060 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19110816 19110817 rs147907199 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19110818 19110819 rs749822874 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110821 19110822 rs9978595 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.230896 0.249269 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 667.000000,4341.000000, 0.133187,0.866813, maf-5-some-pop 730 chr21 19110846 19110847 rs141604950 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 730 chr21 19110857 19110862 rs555955559 0 + AAAAG AAAAG -/AAAAG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,AAAAG, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19110863 19110864 rs745998605 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110883 19110884 rs564605144 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19110889 19110890 rs772160915 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19110902 19110903 rs145957689 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 730 chr21 19110920 19110921 rs182845531 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19110922 19110923 rs568284531 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19110956 19110957 rs187404070 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19110997 19110998 rs541442500 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19111006 19111007 rs529446267 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111012 19111013 rs191488929 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19111051 19111052 rs2824471 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.23031 0.249223 unknown exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 665.000000,4343.000000, 0.132788,0.867212, maf-5-some-pop 730 chr21 19111097 19111098 rs184062997 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19111129 19111130 rs9978438 0 + C C C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA-GONL,WUGSC_SSAHASNP, 0 730 chr21 19111130 19111131 rs138614240 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19111137 19111138 rs117986229 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, maf-5-some-pop 730 chr21 19111144 19111145 rs574038029 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19111174 19111175 rs765029566 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19111180 19111181 rs570544893 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111191 19111192 rs9977756 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.230896 0.249269 unknown exact 1 18 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4341.000000,667.000000, 0.866813,0.133187, maf-5-some-pop 730 chr21 19111219 19111220 rs189315792 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111303 19111304 rs574640343 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111322 19111323 rs8131445 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.230603 0.249246 unknown exact 1 18 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4342.000000,666.000000, 0.867013,0.132987, maf-5-some-pop 730 chr21 19111344 19111345 rs148873467 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19111348 19111349 rs751048678 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19111399 19111400 rs143619568 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111407 19111408 rs546159474 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111423 19111424 rs564359598 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111467 19111468 rs2824472 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.230603 0.249246 unknown exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 666.000000,4342.000000, 0.132987,0.867013, maf-5-some-pop 730 chr21 19111519 19111520 rs753642941 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19111527 19111528 rs756922228 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19111538 19111539 rs543462782 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19111544 19111545 rs74603845 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4892.000000,116.000000, 0.976837,0.023163, maf-5-some-pop 730 chr21 19111563 19111567 rs766186993 0 + TCAC TCAC -/TCAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19111572 19111573 rs560712203 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19111587 19111588 rs529434267 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111633 19111634 rs148053768 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111655 19111656 rs192257946 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19111679 19111680 rs60859681 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 730 chr21 19111719 19111720 rs533489484 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111756 19111757 rs778587196 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19111762 19111763 rs552065477 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111779 19111780 rs570434505 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19111817 19111818 rs2824473 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.230603 0.249246 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4342.000000,666.000000, 0.867013,0.132987, maf-5-some-pop 730 chr21 19111828 19111829 rs117759486 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19111862 19111863 rs201762543 0 + T T -/T genomic deletion by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19111869 19111870 rs184597799 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 unknown exact 1 MixedObserved 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 730 chr21 19111869 19111871 rs796288658 0 + TT TT AA/TT genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 730 chr21 19111870 19111871 rs76170527 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.04147 0.137895 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 92.000000,4251.000000, 0.021184,0.978817, maf-5-some-pop 730 chr21 19111871 19111871 rs141288571 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.233948 0.249484 unknown between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,HAMMER_LAB,LUNTER, 2 -,A, 4251.000000,665.000000, 0.864727,0.135273, maf-5-some-pop 730 chr21 19111874 19111874 rs199979043 0 + - - -/T genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 730 chr21 19111875 19111876 rs553715777 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111883 19111884 rs749735120 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19111916 19111917 rs371805938 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 730 chr21 19111921 19111922 rs572291606 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111923 19111924 rs539322098 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111934 19111935 rs190373057 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111953 19111954 rs9979239 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.231189 0.249291 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 668.000000,4340.000000, 0.133387,0.866613, maf-5-some-pop 730 chr21 19111974 19111975 rs543448656 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111979 19111980 rs542752123 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 4994.000000,14.000000, 0.997204,0.002796, 730 chr21 19111993 19111994 rs141639386 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19111995 19111996 rs9982056 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.231482 0.249313 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 669.000000,4339.000000, 0.133586,0.866414, maf-5-some-pop 730 chr21 19112007 19112008 rs9979576 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.231482 0.249313 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4339.000000,669.000000, 0.866414,0.133586, maf-5-some-pop 730 chr21 19112011 19112012 rs533595323 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19112013 19112014 rs551740703 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19112026 19112027 rs867693893 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19112052 19112053 rs563980597 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19112098 19112099 rs9979681 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.230603 0.249246 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4342.000000,666.000000, 0.867013,0.132987, maf-5-some-pop 730 chr21 19112108 19112109 rs182062654 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19112157 19112158 rs747242548 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19112158 19112159 rs568141630 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19112181 19112182 rs749670137 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19112203 19112204 rs535232745 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19112288 19112289 rs547487553 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19112309 19112310 rs185947795 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19112336 19112337 rs369971736 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19112338 19112339 rs539627213 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19112341 19112342 rs557618455 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19112400 19112401 rs569660528 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19112409 19112410 rs9647197 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 730 chr21 19112425 19112426 rs555374755 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19112434 19112435 rs759863539 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19112461 19112462 rs6517786 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.264632 0.249571 unknown exact 1 13 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 786.000000,4222.000000, 0.156949,0.843051, maf-5-some-pop 730 chr21 19112472 19112473 rs117546130 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 56.000000,4952.000000, 0.011182,0.988818, 730 chr21 19112499 19112500 rs758908520 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19112575 19112576 rs189091318 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19112603 19112604 rs866936753 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19112605 19112606 rs543935745 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19112608 19112609 rs578080729 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19112612 19112613 rs760658047 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19112614 19112615 rs545658749 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19112644 19112645 rs563970076 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19112647 19112648 rs113071008 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,BUSHMAN,EVA-GONL,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19112650 19112651 rs145928070 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19112681 19112682 rs376187032 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19112686 19112686 rs35419236 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19112688 19112689 rs866416924 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19112692 19112693 rs181171015 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19112710 19112711 rs528907906 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19112725 19112726 rs759227650 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19112766 19112767 rs547135068 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19112826 19112827 rs532641418 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19112920 19112921 rs138593765 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4945.000000,63.000000, 0.987420,0.012580, 730 chr21 19112935 19112936 rs369398264 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19112940 19112941 rs760396958 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19112957 19112958 rs532977250 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19112966 19112967 rs763876214 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113042 19113043 rs754230474 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113067 19113068 rs141691007 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19113099 19113100 rs569598820 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19113148 19113149 rs372397749 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19113156 19113157 rs13048920 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19113163 19113164 rs757717468 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113170 19113171 rs13053046 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19113241 19113242 rs753646739 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19113258 19113259 rs73204454 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4982.000000,26.000000, 0.994808,0.005192, 730 chr21 19113291 19113292 rs369892695 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19113301 19113302 rs117907624 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 730 chr21 19113392 19113393 rs567501673 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19113403 19113404 rs535026889 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19113423 19113424 rs146210671 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19113436 19113437 rs79108260 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 730 chr21 19113445 19113446 rs528467123 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19113471 19113472 rs2824474 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.456332 0.141164 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3244.000000,1764.000000, 0.647764,0.352236, maf-5-some-pop 730 chr21 19113491 19113492 rs568503215 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113554 19113555 rs186280460 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19113601 19113602 rs191527683 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19113638 19113639 rs543318554 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19113641 19113642 rs561631523 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19113642 19113643 rs528870955 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19113646 19113647 rs139376277 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19113647 19113648 rs150030116 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19113657 19113658 rs144966258 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 PJP, 0 730 chr21 19113667 19113668 rs537534234 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19113674 19113675 rs747099997 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113692 19113693 rs559159821 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19113736 19113737 rs562337143 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19113741 19113742 rs200701894 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19113742 19113743 rs756584858 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113745 19113746 rs73312287 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19113754 19113755 rs186237960 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19113798 19113799 rs569484758 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19113821 19113822 rs190732009 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19113834 19113835 rs144401844 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19113872 19113873 rs114066015 0 + G G G/T genomic single by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 1 1000GENOMES, 2 G,T, 4947.000000,61.000000, 0.987819,0.012180, 730 chr21 19113883 19113884 rs148787817 0 + A A A/G genomic single by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 730 chr21 19113891 19113892 rs547001385 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19113944 19113945 rs749045353 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113945 19113946 rs571637538 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19113967 19113968 rs770721257 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19113988 19113989 rs796899805 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19114014 19114015 rs144624616 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114065 19114066 rs183244413 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19114090 19114091 rs59105414 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4940.000000,68.000000, 0.986422,0.013578, maf-5-some-pop 730 chr21 19114100 19114101 rs759499951 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19114145 19114146 rs779472246 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19114155 19114156 rs187272307 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19114156 19114157 rs192153767 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114168 19114169 rs573507390 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19114178 19114179 rs575857888 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,PADH-LAB_SPU,SSIP, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19114203 19114204 rs559266428 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19114246 19114247 rs775032093 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19114258 19114259 rs369601771 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19114294 19114295 rs760309130 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19114328 19114329 rs147863821 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19114333 19114334 rs544657474 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19114362 19114363 rs183804983 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114447 19114448 rs530611101 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114450 19114451 rs763789640 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19114456 19114457 rs187899375 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19114477 19114478 rs751092534 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19114478 19114479 rs561004816 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114482 19114483 rs75471136 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114485 19114486 rs546595801 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19114491 19114492 rs796388177 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 730 chr21 19114497 19114498 rs571643189 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114572 19114573 rs539041451 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114589 19114590 rs570581978 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19114597 19114598 rs756627174 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19114634 19114635 rs141537534 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 730 chr21 19114637 19114638 rs569418993 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114716 19114717 rs536816794 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19114737 19114738 rs555177133 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19114750 19114751 rs75189759 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 730 chr21 19114781 19114782 rs534477009 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19114803 19114804 rs558989291 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19114818 19114819 rs758909450 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19114827 19114827 rs36108082 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19114844 19114845 rs2824475 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.267908 0.249358 unknown exact 1 16 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 798.000000,4210.000000, 0.159345,0.840655, maf-5-some-pop 730 chr21 19114887 19114888 rs544645133 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19114902 19114903 rs193006031 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19114972 19114973 rs184316114 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19114983 19114984 rs755084723 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19115001 19115002 rs542443655 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115018 19115019 rs561104914 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115030 19115031 rs781328726 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19115036 19115037 rs528299191 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115073 19115074 rs866676639 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19115078 19115079 rs546830058 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19115104 19115105 rs748387096 0 + C C A/C/G genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19115124 19115125 rs151058046 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115206 19115207 rs544256276 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19115208 19115209 rs532545635 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115265 19115266 rs372743164 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19115284 19115285 rs557965 0 - G G A/C genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19115298 19115299 rs189503524 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19115301 19115302 rs140323506 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19115309 19115310 rs548414712 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19115351 19115352 rs567006945 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115403 19115404 rs371361873 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19115421 19115422 rs866796197 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19115422 19115423 rs534138971 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115423 19115424 rs370580421 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19115425 19115426 rs778761771 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19115435 19115436 rs559194699 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19115445 19115446 rs530259630 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19115480 19115481 rs374254378 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19115482 19115483 rs538226440 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19115514 19115515 rs775311028 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19115520 19115521 rs57102548 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.24019 0.249807 unknown exact 1 21 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 699.000000,4309.000000, 0.139577,0.860423, maf-5-some-pop 730 chr21 19115541 19115542 rs572820208 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19115554 19115555 rs574911044 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19115561 19115562 rs560328794 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19115582 19115583 rs796619907 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19115583 19115584 rs150341467 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19115627 19115628 rs371031284 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19115644 19115645 rs2824476 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.237303 0.249677 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 689.000000,4319.000000, 0.137580,0.862420, maf-5-some-pop 730 chr21 19115650 19115651 rs776365708 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19115667 19115668 rs138093918 0 + C C C/T genomic single by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 1 1000GENOMES, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 730 chr21 19115704 19115705 rs540097824 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115715 19115716 rs544886274 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19115736 19115737 rs2200862 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.471483 0.115954 unknown exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1906.000000,3102.000000, 0.380591,0.619409, maf-5-some-pop 730 chr21 19115751 19115752 rs141067351 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115832 19115833 rs562840133 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19115839 19115840 rs530043245 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19115861 19115862 rs144880955 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19115866 19115867 rs566892907 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19115876 19115877 rs192370161 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19115921 19115922 rs764839170 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19115961 19115962 rs138548411 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19115980 19115981 rs554925988 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19116001 19116002 rs773605528 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116024 19116024 rs574934081 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 730 chr21 19116042 19116043 rs763250840 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116047 19116048 rs141515266 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19116058 19116059 rs144510018 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19116063 19116064 rs766872084 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116090 19116091 rs538115851 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19116110 19116111 rs752069293 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116119 19116120 rs754997005 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116164 19116165 rs556462726 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19116180 19116181 rs2824478 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.455144 0.142885 unknown exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1754.000000,3254.000000, 0.350240,0.649760, maf-5-some-pop 730 chr21 19116201 19116202 rs752837750 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116219 19116220 rs141952410 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19116222 19116223 rs185005072 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19116251 19116252 rs572876562 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19116270 19116271 rs577327672 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19116302 19116303 rs548263985 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19116329 19116330 rs188944268 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 730 chr21 19116359 19116360 rs777902689 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116380 19116381 rs371828737 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19116386 19116387 rs73892675 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19116404 19116405 rs181523124 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19116412 19116413 rs150656328 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19116435 19116436 rs779974478 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116441 19116442 rs530096884 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19116446 19116447 rs546865469 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19116484 19116485 rs868490836 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19116501 19116502 rs144970454 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 G,T, 54.000000,4954.000000, 0.010783,0.989217, 730 chr21 19116640 19116641 rs118016467 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 4953.000000,55.000000, 0.989018,0.010982, 730 chr21 19116642 19116643 rs552269884 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19116670 19116671 rs768780689 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116706 19116707 rs776250517 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116718 19116719 rs75663309 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 730 chr21 19116719 19116720 rs147533086 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19116725 19116726 rs747711023 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116730 19116731 rs528779936 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19116743 19116744 rs550022957 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19116763 19116764 rs568703032 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19116790 19116791 rs762589042 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19116808 19116809 rs536244720 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19116818 19116819 rs187153765 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19116866 19116867 rs189520810 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19116891 19116892 rs772773201 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19116892 19116893 rs181395587 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19116896 19116897 rs558687401 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19116907 19116908 rs139905417 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19116915 19116916 rs538077873 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19116935 19116936 rs556493794 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19116940 19116941 rs145336556 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,MPI_MOLGEN,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4947.000000,61.000000, 0.987819,0.012180, 730 chr21 19116941 19116942 rs542191003 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19116944 19116945 rs560254500 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19116945 19116946 rs572427670 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19116987 19116988 rs545848437 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19117033 19117034 rs754483554 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19117034 19117035 rs371971002 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 730 chr21 19117059 19117060 rs564252241 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19117083 19117084 rs34523317 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19117096 19117097 rs545245518 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.252421 0.249988 unknown exact 1 2 1000GENOMES,SSIP, 2 -,A, 742.000000,4266.000000, 0.148163,0.851837, maf-5-some-pop 730 chr21 19117114 19117115 rs145259384 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.090531 0.192535 unknown exact 1 6 1000GENOMES,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4770.000000,238.000000, 0.952476,0.047524, maf-5-some-pop 730 chr21 19117115 19117116 rs11911525 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.238749 0.249747 unknown exact 1 11 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 694.000000,4314.000000, 0.138578,0.861422, maf-5-some-pop 730 chr21 19117147 19117148 rs562387300 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19117182 19117183 rs185764981 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19117183 19117184 rs766671019 0 + G G A/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19117197 19117198 rs866134309 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19117212 19117213 rs548089795 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19117228 19117229 rs372190716 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 4987.000000,21.000000, 0.995807,0.004193, 730 chr21 19117234 19117235 rs1686640 0 - T T A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19117237 19117238 rs530933949 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 730 chr21 19117261 19117262 rs868546136 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19117262 19117263 rs11909173 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap 0.46875 0.121031 unknown exact 1 9 BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,SSAHASNP, 2 A,G, 3.000000,5.000000, 0.375000,0.625000, 730 chr21 19117263 19117264 rs142262105 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 BL,WEILL_CORNELL_DGM, 0 730 chr21 19117284 19117285 rs35228783 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19117287 19117288 rs118159917 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.065214 0.168387 unknown exact 1 3 1000GENOMES,EVA_DECODE,GMI, 2 A,C, 4839.000000,169.000000, 0.966254,0.033746, maf-5-some-pop 730 chr21 19117292 19117293 rs570607447 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19117346 19117347 rs538016556 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19117350 19117351 rs181768131 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19117361 19117362 rs186192707 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19117510 19117511 rs371104606 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BILGI_BIOE, 0 730 chr21 19117510 19117511 rs375169147 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 LUNTER, 0 730 chr21 19117513 19117514 rs535359856 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 4 1000GENOMES,EVA_DECODE,ILLUMINA,WEILL_CORNELL_DGM, 2 A,T, 4906.000000,102.000000, 0.979633,0.020367, maf-5-some-pop 730 chr21 19117555 19117556 rs369687447 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19117578 19117579 rs7275415 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.041819 0.138422 unknown exact 1 3 1000GENOMES,BCM_SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4901.000000,107.000000, 0.978634,0.021366, maf-5-some-pop 730 chr21 19117584 19117585 rs545836244 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19117610 19117611 rs564240046 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19117615 19117616 rs565150237 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19117656 19117657 rs772402020 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19117666 19117667 rs780180651 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19117692 19117693 rs551015738 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 730 chr21 19117718 19117719 rs867816047 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19117724 19117725 rs778602108 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19117740 19117741 rs570874578 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19117746 19117747 rs191003522 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19117761 19117762 rs543523388 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19117796 19117797 rs200658898 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 ILLUMINA,WEILL_CORNELL_DGM, 0 730 chr21 19117797 19117797 rs529329249 0 + - - -/TTTTTT genomic insertion by-frequency,by-1000genomes 0.391024 0.206427 unknown between 1 1 1000GENOMES, 2 -,TTTTTT, 1335.000000,3673.000000, 0.266573,0.733427, maf-5-some-pop 730 chr21 19117838 19117839 rs533118228 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19117860 19117861 rs562111974 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19117883 19117884 rs183425350 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19117885 19117886 rs188821158 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19117891 19117892 rs560033628 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19117899 19117900 rs142619623 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.090892 0.192833 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4769.000000,239.000000, 0.952276,0.047724, maf-5-some-pop 730 chr21 19117916 19117917 rs752754301 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118001 19118002 rs191019775 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19118030 19118031 rs13048821 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19118035 19118036 rs570546699 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19118088 19118089 rs183296215 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19118094 19118095 rs549871134 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19118098 19118099 rs546454422 0 + C C C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118127 19118128 rs113981345 0 + G G -/G genomic deletion unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19118141 19118142 rs754013125 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118169 19118170 rs8130001 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.226779 0.248919 unknown exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4355.000000,653.000000, 0.869609,0.130391, maf-5-some-pop 730 chr21 19118232 19118232 rs35781720 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19118241 19118242 rs186682458 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19118268 19118269 rs553775231 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19118270 19118271 rs779982266 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118286 19118287 rs535351334 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118310 19118311 rs112539115 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19118315 19118316 rs79143360 0 + T T C/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 730 chr21 19118329 19118330 rs754942836 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118335 19118336 rs768567646 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19118389 19118390 rs776784789 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19118390 19118391 rs761671540 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19118408 19118409 rs373058894 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19118471 19118472 rs781299148 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118501 19118502 rs539428144 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19118540 19118541 rs747619554 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118588 19118589 rs868194135 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19118591 19118592 rs769789445 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19118616 19118617 rs557693898 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19118621 19118622 rs769189005 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118630 19118631 rs576046881 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19118646 19118647 rs191497339 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19118647 19118648 rs555837725 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19118663 19118664 rs375789262 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19118675 19118676 rs574140863 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19118681 19118682 rs150996309 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19118706 19118707 rs140999841 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,TISHKOFF, 0 730 chr21 19118744 19118745 rs183887979 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19118757 19118758 rs560086429 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19118810 19118811 rs555288143 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19118871 19118872 rs369180054 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19118875 19118876 rs75695552 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 unknown exact 1 5 1000GENOMES,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 730 chr21 19118901 19118902 rs545724192 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19118903 19118904 rs777423528 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118916 19118917 rs113335755 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 730 chr21 19118933 19118934 rs531354117 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19118950 19118951 rs770679478 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118967 19118968 rs774671787 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19118971 19118972 rs146749357 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19119005 19119006 rs568179972 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19119051 19119052 rs759946460 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119052 19119053 rs772521355 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119053 19119054 rs537452659 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19119064 19119064 rs150768211 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.094137 0.195465 unknown between 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,T, 4760.000000,248.000000, 0.950479,0.049521, maf-5-some-pop 730 chr21 19119066 19119067 rs547613816 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19119097 19119098 rs112162100 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19119125 19119126 rs776011111 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119164 19119165 rs187875104 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19119185 19119186 rs467701 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.184203 0.241186 unknown exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 514.000000,4494.000000, 0.102636,0.897364, maf-5-some-pop 730 chr21 19119259 19119260 rs193290772 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19119279 19119280 rs569683137 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19119301 19119302 rs577642630 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19119303 19119304 rs759242310 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19119326 19119327 rs540358745 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119333 19119334 rs376155255 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19119337 19119338 rs764095427 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119341 19119342 rs754008554 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119343 19119344 rs761909756 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119351 19119352 rs765605605 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119355 19119356 rs140246424 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19119358 19119359 rs184999611 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 730 chr21 19119364 19119365 rs754849639 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119368 19119369 rs57331992 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 730 chr21 19119369 19119370 rs527614076 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 G,T, 4975.000000,33.000000, 0.993411,0.006589, 730 chr21 19119399 19119400 rs578219420 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119402 19119403 rs545687390 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119416 19119417 rs781205833 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119424 19119425 rs150287756 0 + C C C/T genomic single by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 730 chr21 19119462 19119463 rs575931526 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119593 19119594 rs543431214 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119613 19119614 rs561622750 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119669 19119670 rs61615497 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 unknown exact 1 8 1000GENOMES,BUSHMAN,EVA_DECODE,HGSV,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4876.000000,132.000000, 0.973642,0.026358, maf-5-some-pop 730 chr21 19119670 19119671 rs547182209 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119682 19119683 rs559096715 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19119689 19119690 rs756132137 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119780 19119781 rs35727197 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19119785 19119786 rs866884999 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19119795 19119796 rs137986730 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19119799 19119800 rs777139934 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119800 19119801 rs748873356 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119801 19119802 rs868701165 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19119857 19119858 rs200565903 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19119859 19119860 rs149471161 0 + C C C/G/T genomic single by-1000genomes 0 0 unknown exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19119922 19119923 rs551248318 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19119952 19119953 rs2824479 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.262985 0.249663 unknown exact 1 MixedObserved 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4228.000000,780.000000, 0.844249,0.155751, maf-5-some-pop 730 chr21 19119952 19119954 rs386816704 0 + AG AG AG/CA genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 730 chr21 19120114 19120115 rs750789782 0 + G G G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 EVA_DECODE, 0 730 chr21 19120114 19120114 rs765898531 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 EVA_DECODE, 0 730 chr21 19120143 19120144 rs34514356 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.064842 0.167978 unknown exact 1 11 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 168.000000,4840.000000, 0.033546,0.966454, maf-5-some-pop 730 chr21 19120176 19120177 rs772433545 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19120200 19120201 rs549399199 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19120209 19120210 rs775919354 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19120253 19120254 rs567561986 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19120264 19120265 rs535070115 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19120301 19120302 rs761073852 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19120333 19120334 rs553526160 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19120354 19120355 rs573525919 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19120445 19120446 rs866621305 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19120456 19120457 rs202022628 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.322721 0.239189 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3995.000000,1013.000000, 0.797724,0.202276, maf-5-some-pop 730 chr21 19120470 19120471 rs243563 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494526 0.052029 unknown exact 1 15 1000GENOMES,ABI,BCMHGSC_JDW,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HGSV,KWOK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2766.000000,2242.000000, 0.552316,0.447684, maf-5-some-pop,maf-5-all-pops 730 chr21 19120492 19120493 rs557664750 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19120509 19120510 rs367810848 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.326506 0.238006 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3979.000000,1029.000000, 0.794529,0.205471, maf-5-some-pop 730 chr21 19120524 19120525 rs190250984 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.362313 0.223351 unknown exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 1190.000000,3818.000000, 0.237620,0.762380, maf-5-some-pop 730 chr21 19120530 19120531 rs561681525 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19120534 19120535 rs573580225 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19120539 19120540 rs370574500 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19120540 19120541 rs375339177 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.361053 0.22398 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1184.000000,3824.000000, 0.236422,0.763578, maf-5-some-pop 730 chr21 19120567 19120568 rs559058580 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19120593 19120594 rs532941324 0 + T T A/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 1 1000GENOMES, 2 A,T, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19120610 19120611 rs243564 0 - T T A/C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.18989 0.242666 unknown exact 1 SingleClassQuadAllelic,InconsistentAlleles 13 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,EVA-GONL,GMI,HGSV,KWOK,PJP,SEQUENOM,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 532.000000,4476.000000, 0.106230,0.893770, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 730 chr21 19120643 19120644 rs563427486 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19120655 19120656 rs181176956 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 730 chr21 19120730 19120731 rs549010625 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19120781 19120782 rs544304070 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19120786 19120787 rs372443758 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19120787 19120788 rs567622543 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19120835 19120836 rs780492553 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19120845 19120846 rs564529881 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19120856 19120857 rs534724012 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19120905 19120906 rs111664218 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19120923 19120924 rs243565 0 - G G A/C/G/T genomic single by-cluster,by-2hit-2allele,by-hapmap 0 0 unknown exact 1 SingleClassQuadAllelic 15 ABI,BCM-HGSC-SUB,BCMHGSC_JDW,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,GMI,KWOK,PJP,SC_SNP,SEQUENOM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 0 rs-cluster-nonoverlapping-alleles 730 chr21 19120999 19121000 rs547099469 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19121095 19121096 rs368805798 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 4882.000000,126.000000, 0.974840,0.025160, maf-5-some-pop 730 chr21 19121156 19121157 rs372325270 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 730 chr21 19121177 19121178 rs557626118 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19121213 19121214 rs243566 0 - G G A/C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.45574 0.142025 unknown exact 1 SingleClassQuadAllelic,InconsistentAlleles 12 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,DDI,EVA-GONL,GMI,KWOK,SC_SNP,SEQUENOM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1759.000000,3249.000000, 0.351238,0.648762, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 730 chr21 19121244 19121245 rs536925745 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19121300 19121301 rs369005404 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19121309 19121310 rs372734686 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19121327 19121328 rs243567 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.45574 0.142025 unknown exact 1 11 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,EVA-GONL,GMI,KWOK,SC_SNP,SEQUENOM,WEILL_CORNELL_DGM, 2 C,T, 1759.000000,3249.000000, 0.351238,0.648762, maf-5-some-pop,maf-5-all-pops 730 chr21 19121351 19121352 rs573568384 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19121356 19121357 rs180765579 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19121361 19121362 rs374967612 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19121377 19121378 rs552648929 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19121396 19121397 rs185261307 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 730 chr21 19121408 19121430 rs552070770 0 + TTTTGGCTTTTGTTCCCATTGC TTTTGGCTTTTGTTCCCATTGC -/TTTTGGCTTTTGTTCCCATTGC genomic deletion by-frequency,by-1000genomes 0.042201 0.138995 unknown range 1 1 1000GENOMES, 2 -,TTTTGGCTTTTGTTCCCATTGC, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 730 chr21 19121457 19121458 rs757596350 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19121466 19121467 rs529056543 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19121512 19121513 rs369451910 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19121545 19121546 rs140157238 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19121568 19121569 rs544712902 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19121596 19121597 rs563451346 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19121601 19121602 rs530639710 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19121603 19121604 rs542872908 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19121630 19121631 rs561060835 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19121661 19121662 rs548823408 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19121665 19121666 rs568827224 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19121769 19121769 rs750483533 0 + - - -/GTACCC genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 730 chr21 19121802 19121803 rs113914520 0 + T T C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,BCM-HGSC-SUB, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19121810 19121811 rs547061356 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19121814 19121815 rs141845734 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 G,T, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19121817 19121818 rs376835684 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,SSMP,WEILL_CORNELL_DGM, 0 730 chr21 19121831 19121832 rs557453930 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19121867 19121868 rs150603444 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 50.000000,4958.000000, 0.009984,0.990016, 730 chr21 19121873 19121874 rs550797422 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19121879 19121880 rs569402138 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19121887 19121888 rs536483005 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19121900 19121901 rs139691083 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 730 chr21 19121927 19121927 rs35068642 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19121932 19121933 rs571262720 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19121944 19121945 rs772223525 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19121958 19121961 rs201745124 0 + ATC ATC -/ATC genomic deletion by-cluster,by-frequency,by-1000genomes 0.330249 0.23677 unknown range 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,SSMP, 2 -,ATC, 1045.000000,3963.000000, 0.208666,0.791334, maf-5-some-pop 730 chr21 19122003 19122004 rs567099675 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19122015 19122016 rs371457743 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19122025 19122026 rs553909704 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19122100 19122101 rs534309980 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19122161 19122162 rs552511719 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19122163 19122164 rs577223320 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19122181 19122182 rs544676009 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19122182 19122183 rs556796036 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19122184 19122185 rs374582244 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19122232 19122233 rs748280855 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19122290 19122291 rs191040293 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 730 chr21 19122297 19122298 rs575379465 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19122355 19122356 rs190855954 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19122367 19122368 rs542484615 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19122407 19122408 rs113872758 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19122426 19122427 rs561231418 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19122460 19122462 rs202018690 0 + TC TC -/TC genomic deletion by-cluster,by-frequency,by-1000genomes 0.134802 0.221877 unknown range 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 -,TC, 364.000000,4644.000000, 0.072684,0.927316, maf-5-some-pop 730 chr21 19122498 19122499 rs773172386 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19122537 19122538 rs182431131 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19122546 19122547 rs540541688 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19122559 19122560 rs770576664 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19122560 19122561 rs145753642 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 730 chr21 19122570 19122571 rs139934028 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19122598 19122599 rs551040403 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19122599 19122600 rs542460654 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19122602 19122603 rs186559669 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19122634 19122635 rs191980617 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19122743 19122744 rs370361576 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19122819 19122820 rs780836219 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19122863 19122864 rs530315201 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19122882 19122883 rs548541542 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19122893 19122894 rs566734991 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19122937 19122938 rs556071512 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_GENOME_DK, 2 G,T, 45.000000,4963.000000, 0.008986,0.991014, 730 chr21 19122963 19122964 rs552474602 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19122999 19123000 rs570875786 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123027 19123028 rs182141552 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 730 chr21 19123088 19123089 rs375093697 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19123129 19123130 rs538281649 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123142 19123143 rs866441373 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19123145 19123146 rs556995893 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123176 19123177 rs8129562 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.326035 0.238157 unknown exact 1 8 1000GENOMES,EVA_GENOME_DK,GMI,HGSV,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3981.000000,1027.000000, 0.794928,0.205072, maf-5-some-pop 730 chr21 19123177 19123178 rs536435558 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123188 19123189 rs575824244 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19123191 19123192 rs554426537 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19123227 19123228 rs573074403 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19123261 19123262 rs182837637 0 + G G C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19123266 19123267 rs544922040 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19123275 19123276 rs565215827 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 1 1000GENOMES, 2 C,T, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19123336 19123337 rs577291748 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19123339 19123340 rs544328861 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19123425 19123426 rs562992960 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19123457 19123458 rs200222955 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19123458 19123459 rs201539372 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19123463 19123464 rs530099922 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19123555 19123556 rs370612856 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19123605 19123606 rs548667704 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123627 19123628 rs560285474 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 730 chr21 19123638 19123639 rs527896528 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19123643 19123644 rs552437331 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19123663 19123664 rs140372388 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.134802 0.221877 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 364.000000,4644.000000, 0.072684,0.927316, maf-5-some-pop 730 chr21 19123673 19123674 rs538623286 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123677 19123678 rs143446987 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4906.000000,102.000000, 0.979633,0.020367, maf-5-some-pop 730 chr21 19123699 19123700 rs150943121 0 + C C C/T genomic single by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 1 1000GENOMES, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19123700 19123701 rs137895736 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.078884 0.182262 unknown exact 1 5 1000GENOMES,BL,EVA-GONL,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 A,G, 206.000000,4802.000000, 0.041134,0.958866, maf-5-some-pop 730 chr21 19123701 19123702 rs554723409 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19123705 19123706 rs62212916 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 730 chr21 19123713 19123714 rs62212918 0 + T T A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 BCM-HGSC-SUB,BCMHGSC_JDW, 0 730 chr21 19123723 19123724 rs62212919 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 730 chr21 19123787 19123788 rs573061879 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19123849 19123850 rs534009145 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123854 19123855 rs558889879 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19123857 19123858 rs577253093 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19123860 19123861 rs243568 0 - G G A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.179744 0.239925 unknown exact 1 SingleClassQuadAllelic,InconsistentAlleles 15 1000GENOMES,ABI,BCMHGSC_JDW,DDI,EVA-GONL,GMI,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SEQUENOM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4508.000000,500.000000, 0.900160,0.099840, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 730 chr21 19123864 19123865 rs372138183 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19123912 19123913 rs562694636 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 192.000000,4816.000000, 0.038339,0.961661, maf-5-some-pop 730 chr21 19123935 19123936 rs574798405 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19123974 19123975 rs541924361 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19124030 19124031 rs58250019 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 3 1000GENOMES,HGSV,WEILL_CORNELL_DGM, 2 A,G, 4960.000000,48.000000, 0.990415,0.009585, 730 chr21 19124066 19124067 rs199924985 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.134802 0.221877 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4644.000000,364.000000, 0.927316,0.072684, maf-5-some-pop 730 chr21 19124121 19124122 rs769674096 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19124172 19124173 rs190423956 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124207 19124208 rs564429653 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124219 19124220 rs531868942 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19124227 19124228 rs550451555 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19124231 19124232 rs568729496 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124240 19124241 rs529706528 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124249 19124250 rs548287992 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124260 19124261 rs566620132 0 + A A A/C genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 1 1000GENOMES, 2 A,C, 4984.000000,24.000000, 0.995208,0.004792, 730 chr21 19124276 19124277 rs182256498 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19124292 19124293 rs9979958 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19124296 19124297 rs570630463 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124297 19124298 rs537722853 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19124391 19124392 rs556437463 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124416 19124417 rs574726372 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19124430 19124431 rs759107441 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19124457 19124458 rs542236673 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19124458 19124459 rs553845424 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19124490 19124491 rs767258437 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19124545 19124546 rs367570674 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19124575 19124576 rs572245308 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124605 19124606 rs545901690 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124647 19124648 rs11910581 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.042201 0.138995 unknown exact 1 11 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,KRIBB_YJKIM,WEILL_CORNELL_DGM, 2 G,T, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 730 chr21 19124686 19124687 rs761974463 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19124699 19124700 rs11910901 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.069672 0.173152 unknown exact 1 15 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4827.000000,181.000000, 0.963858,0.036142, maf-5-some-pop 730 chr21 19124712 19124713 rs560221152 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19124721 19124722 rs117438920 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19124766 19124767 rs529656746 0 + A A A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19124784 19124785 rs35115320 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19124796 19124797 rs548249805 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124802 19124803 rs548788194 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 730 chr21 19124808 19124809 rs1387614 0 - C C A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 7 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TSC-CSHL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19124809 19124810 rs531499016 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19124828 19124829 rs538179789 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19124907 19124907 rs34153763 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19124925 19124926 rs777818947 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19124947 19124948 rs752024130 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19124956 19124956 rs35839261 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 730 chr21 19124972 19124973 rs753241773 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125002 19125003 rs552325315 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19125004 19125005 rs570519856 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125015 19125016 rs7275681 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.018594 0.094611 unknown exact 1 5 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,HGSV,ILLUMINA, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, maf-5-some-pop 730 chr21 19125016 19125017 rs74415387 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075947 0.179459 unknown exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 198.000000,4810.000000, 0.039537,0.960463, maf-5-some-pop 730 chr21 19125042 19125043 rs193003443 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19125045 19125046 rs867690913 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19125048 19125049 rs143231097 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19125144 19125145 rs553708462 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125147 19125148 rs778472910 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125230 19125231 rs572108652 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125276 19125277 rs147078577 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 730 chr21 19125299 19125299 rs201293274 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 2 1000GENOMES,EVA-GONL, 0 730 chr21 19125320 19125321 rs185772646 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125327 19125328 rs571110662 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19125331 19125332 rs576541508 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125349 19125350 rs114159953 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 730 chr21 19125351 19125352 rs796781942 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19125358 19125359 rs745536034 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125413 19125414 rs7279878 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.134802 0.221877 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 364.000000,4644.000000, 0.072684,0.927316, maf-5-some-pop 730 chr21 19125419 19125420 rs7278745 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.227664 0.249 unknown exact 1 15 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 656.000000,4352.000000, 0.130990,0.869010, maf-5-some-pop 730 chr21 19125468 19125469 rs138544534 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19125469 19125470 rs188237703 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19125471 19125472 rs149653240 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 730 chr21 19125505 19125506 rs756145632 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19125531 19125532 rs768994759 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125566 19125567 rs562716185 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19125586 19125587 rs547324800 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,DDI,SSIP, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19125632 19125633 rs777224902 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125642 19125643 rs796588758 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 730 chr21 19125669 19125670 rs144385648 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19125716 19125717 rs7280832 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.059985 0.162463 unknown exact 1 8 1000GENOMES,AFFY,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,HAMMER_LAB,KRIBB_YJKIM,WEILL_CORNELL_DGM, 2 A,G, 4853.000000,155.000000, 0.969050,0.030950, maf-5-some-pop 730 chr21 19125721 19125722 rs549990043 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125724 19125725 rs148726780 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19125742 19125743 rs193075533 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125746 19125747 rs376402637 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125758 19125759 rs567393878 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19125764 19125765 rs565701020 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19125773 19125774 rs35362921 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 unknown exact 1 3 1000GENOMES,ABI,WEILL_CORNELL_DGM, 2 C,G, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 730 chr21 19125774 19125775 rs536384704 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125783 19125784 rs777850438 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19125784 19125785 rs560734045 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 730 chr21 19125802 19125803 rs773480018 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125841 19125842 rs555977918 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19125854 19125855 rs243569 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.449979 0.150028 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3296.000000,1712.000000, 0.658147,0.341853, maf-5-some-pop,maf-5-all-pops 730 chr21 19125884 19125885 rs537161995 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19125885 19125886 rs529807425 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19125893 19125894 rs555884783 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19125914 19125915 rs374353015 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19125934 19125935 rs868839629 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19125973 19125974 rs766743744 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19125987 19125988 rs184432185 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19125988 19125989 rs188537340 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19125989 19125990 rs73314004 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.315516 0.241263 unknown exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 983.000000,4025.000000, 0.196286,0.803714, maf-5-some-pop 730 chr21 19125998 19125999 rs774003762 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19126017 19126018 rs558429835 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19126038 19126039 rs545828935 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19126050 19126051 rs371419498 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19126078 19126079 rs7276293 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.366885 0.220993 unknown exact 1 MixedObserved 24 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1212.000000,3796.000000, 0.242013,0.757987, maf-5-some-pop 730 chr21 19126078 19126080 rs386816705 0 + TG TG CA/TG genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 730 chr21 19126079 19126080 rs74541766 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 192.000000,4816.000000, 0.038339,0.961661, maf-5-some-pop 730 chr21 19126120 19126121 rs73314011 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.315273 0.241329 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 982.000000,4026.000000, 0.196086,0.803914, maf-5-some-pop 730 chr21 19126189 19126190 rs561890889 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126196 19126197 rs141403145 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19126209 19126210 rs756701412 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126221 19126222 rs547272754 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19126236 19126237 rs146339571 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19126239 19126240 rs139584960 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,C, 28.000000,4980.000000, 0.005591,0.994409, 730 chr21 19126244 19126245 rs764715079 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126282 19126283 rs551713452 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19126287 19126288 rs750003776 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126289 19126290 rs768225365 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19126311 19126312 rs73314013 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19126327 19126328 rs537527034 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126341 19126342 rs146711592 0 + A A A/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,T, 4990.000000,18.000000, 0.996406,0.003594, 730 chr21 19126415 19126416 rs574268630 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126444 19126445 rs139299222 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19126446 19126447 rs149967500 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 730 chr21 19126449 19126450 rs578259886 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 730 chr21 19126457 19126458 rs545385570 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126498 19126499 rs564063139 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19126502 19126503 rs575970362 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126519 19126520 rs77916630 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 730 chr21 19126521 19126522 rs747295966 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126571 19126572 rs561478040 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126590 19126591 rs529030631 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126620 19126621 rs77211284 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,C, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 730 chr21 19126653 19126654 rs560184852 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 730 chr21 19126677 19126678 rs374812125 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19126697 19126698 rs374043419 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19126699 19126700 rs559134097 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19126700 19126701 rs573781318 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19126727 19126728 rs145072781 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19126741 19126742 rs781492665 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126743 19126744 rs34555213 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19126751 19126752 rs181329910 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126782 19126783 rs748649776 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126790 19126791 rs149039752 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 730 chr21 19126815 19126816 rs564203150 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19126818 19126819 rs770487693 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126826 19126827 rs17002055 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 6 1000GENOMES,BUSHMAN,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 48.000000,4960.000000, 0.009585,0.990415, 730 chr21 19126828 19126829 rs183487816 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19126831 19126832 rs202119799 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19126877 19126878 rs535221128 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19126881 19126882 rs553563062 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19126900 19126901 rs115574366 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 730 chr21 19126940 19126941 rs377279511 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19126956 19126957 rs771014301 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126979 19126980 rs147801136 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19126980 19126981 rs774668572 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19126992 19126993 rs188171235 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19127026 19127027 rs76703088 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127054 19127055 rs543077822 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19127086 19127087 rs760323969 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19127111 19127112 rs763965605 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19127121 19127122 rs141183605 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19127138 19127139 rs181994573 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 730 chr21 19127143 19127144 rs146957041 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19127177 19127178 rs187473134 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127194 19127195 rs532999128 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127197 19127198 rs545272875 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19127231 19127232 rs563462521 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127234 19127235 rs530932509 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127245 19127249 rs138084394 0 + TTTA TTTA -/TTTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,TTTA, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 730 chr21 19127326 19127327 rs549441331 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127358 19127359 rs8132574 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.018594 0.094611 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WI_SSAHASNP, 2 A,G, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19127397 19127398 rs528547559 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19127471 19127472 rs547138268 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19127536 19127537 rs138506225 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 3 1000GENOMES,SSMP,WARNICH_LAB, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 730 chr21 19127543 19127544 rs367571686 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19127549 19127549 rs151130688 0 + - - -/TG genomic insertion by-cluster 0 0 unknown between 1 4 BILGI_BIOE,BL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19127550 19127551 rs638973 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 6 BCM-HGSC-SUB,BGI,GMI,HAMMER_LAB,SC_JCM,WEILL_CORNELL_DGM, 0 730 chr21 19127550 19127550 rs35942544 0 + - - -/G/GT/TG genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 4 ABI,BILGI_BIOE,HUMANGENOME_JCVI,PJP, 1 GT, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 730 chr21 19127586 19127587 rs115059267 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19127619 19127620 rs372351192 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19127625 19127626 rs569494758 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19127634 19127635 rs537039376 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127665 19127666 rs554899248 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19127690 19127691 rs115512605 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4907.000000,101.000000, 0.979832,0.020168, maf-5-some-pop 730 chr21 19127698 19127699 rs150278434 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19127702 19127706 rs759278607 0 + TGCC TGCC -/TGCC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19127717 19127718 rs531537648 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19127725 19127726 rs552685672 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19127744 19127745 rs111503386 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19127748 19127749 rs759985662 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 EVA_DECODE, 0 730 chr21 19127748 19127748 rs751843269 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 EVA_DECODE, 0 730 chr21 19127750 19127751 rs767899605 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19127751 19127752 rs752866467 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19127762 19127763 rs138929773 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,G, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 730 chr21 19127766 19127767 rs757933688 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19127791 19127792 rs78500234 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.118933 0.212888 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4690.000000,318.000000, 0.936502,0.063498, maf-5-some-pop 730 chr21 19127797 19127798 rs190531081 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19127806 19127807 rs575407460 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19127848 19127849 rs181839531 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19127986 19127987 rs186245774 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19128003 19128004 rs751236739 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128013 19128014 rs528510848 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19128033 19128034 rs754642683 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128036 19128037 rs77045805 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.118584 0.212673 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4691.000000,317.000000, 0.936701,0.063299, maf-5-some-pop 730 chr21 19128054 19128055 rs190070803 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19128080 19128081 rs753148986 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128087 19128088 rs532734058 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19128091 19128092 rs375314758 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19128112 19128113 rs149354537 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19128130 19128131 rs112322179 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,TISHKOFF, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19128149 19128150 rs569439117 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19128200 19128201 rs536519580 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19128222 19128226 rs560416930 0 + TCTC TCTC -/TCTC genomic deletion by-cluster 0 0 unknown range 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 730 chr21 19128277 19128278 rs8128263 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.165853 0.235413 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,PJP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4551.000000,457.000000, 0.908746,0.091254, maf-5-some-pop 730 chr21 19128278 19128279 rs778450024 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128318 19128319 rs749343649 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128319 19128320 rs113105969 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.091975 0.193722 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 242.000000,4766.000000, 0.048323,0.951677, maf-5-some-pop 730 chr21 19128322 19128323 rs778947611 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128331 19128332 rs527252467 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19128423 19128424 rs182679325 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19128428 19128429 rs549949392 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19128448 19128449 rs552647121 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19128452 19128453 rs577706019 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19128455 19128456 rs147444606 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 8 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4944.000000,64.000000, 0.987220,0.012780, 730 chr21 19128457 19128458 rs185199909 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 730 chr21 19128494 19128495 rs865896920 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19128495 19128496 rs201269416 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19128517 19128518 rs115756808 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, maf-5-some-pop 730 chr21 19128538 19128539 rs542908843 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19128544 19128545 rs374323572 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19128564 19128565 rs772251074 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128570 19128571 rs534202816 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19128573 19128574 rs776378945 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128592 19128593 rs138321157 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19128598 19128599 rs111678248 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 730 chr21 19128642 19128643 rs573250807 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19128651 19128652 rs761646849 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128674 19128675 rs540675575 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19128705 19128706 rs243570 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.202651 0.245475 unknown exact 1 34 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4435.000000,573.000000, 0.885583,0.114417, maf-5-some-pop 730 chr21 19128727 19128728 rs762310294 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128736 19128737 rs191090909 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19128740 19128740 rs143742144 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,A, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 730 chr21 19128814 19128815 rs28704733 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 3 1000GENOMES,SSAHASNP,TISHKOFF, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 730 chr21 19128823 19128824 rs562907553 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19128828 19128829 rs765897776 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128875 19128876 rs536341771 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128958 19128960 rs140141053 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.188316 0.242271 unknown range 1 MixedObserved 5 1000GENOMES,GMI,HAMMER_LAB,PJP,SSMP, 2 -,TT, 4481.000000,527.000000, 0.894768,0.105232, maf-5-some-pop 730 chr21 19128958 19128961 rs764559549 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128959 19128961 rs747075356 0 + TT TT -/TT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19128971 19128973 rs10550685 0 + TT TT -/TT genomic deletion by-cluster 0.375 0.216506 unknown range 1 2 HGSV,HUMANGENOME_JCVI, 2 -,TT, 3.000000,1.000000, 0.750000,0.250000, 730 chr21 19128980 19128981 rs112742218 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 730 chr21 19128981 19128982 rs865787460 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19129011 19129012 rs8128285 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WI_SSAHASNP, 0 730 chr21 19129022 19129023 rs570917806 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19129023 19129024 rs566871425 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19129070 19129071 rs146088356 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 730 chr21 19129081 19129082 rs182703907 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19129094 19129095 rs188963824 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19129095 19129096 rs538327017 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19129113 19129114 rs557034801 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19129130 19129131 rs148464080 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 C,G, 25.000000,4983.000000, 0.004992,0.995008, 730 chr21 19129132 19129133 rs142603020 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19129138 19129139 rs243571 0 - T T A/C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.178144 0.239451 unknown exact 1 SingleClassQuadAllelic,InconsistentAlleles 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SEQUENOM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 495.000000,4513.000000, 0.098842,0.901158, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 730 chr21 19129162 19129163 rs28544993 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.315758 0.241197 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 984.000000,4024.000000, 0.196486,0.803514, maf-5-some-pop 730 chr21 19129197 19129198 rs11910143 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.06036 0.1629 unknown exact 1 6 1000GENOMES,BUSHMAN,CSHL-HAPMAP,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 156.000000,4852.000000, 0.031150,0.968850, maf-5-some-pop 730 chr21 19129236 19129237 rs147784354 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,C, 39.000000,4969.000000, 0.007788,0.992212, 730 chr21 19129239 19129239 rs765598178 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19129253 19129254 rs577186569 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19129259 19129260 rs753059055 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19129264 19129265 rs28412250 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.314544 0.241524 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 979.000000,4029.000000, 0.195487,0.804513, maf-5-some-pop 730 chr21 19129280 19129281 rs193150473 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19129302 19129303 rs778361890 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19129339 19129340 rs530229327 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19129347 19129348 rs754412328 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19129428 19129429 rs573745139 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19129429 19129430 rs542059573 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19129439 19129440 rs369037055 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19129445 19129446 rs368642396 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 730 chr21 19129446 19129447 rs115826212 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 50.000000,4958.000000, 0.009984,0.990016, 730 chr21 19129470 19129471 rs542666199 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19129473 19129474 rs552855279 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19129478 19129478 rs202214499 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown between 1 2 1000GENOMES,LUNTER, 2 -,A, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19129502 19129503 rs11910552 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.041054 0.137264 unknown exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,WEILL_CORNELL_DGM, 2 A,T, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 730 chr21 19129565 19129566 rs532167086 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 730 chr21 19129568 19129569 rs376515773 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,SSMP, 0 730 chr21 19129601 19129602 rs182861786 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19129670 19129671 rs569016502 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19129753 19129754 rs187404313 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19129761 19129762 rs60382552 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HGSV, 2 C,G, 47.000000,4961.000000, 0.009385,0.990615, 730 chr21 19129764 19129765 rs59049220 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HGSV, 2 G,T, 47.000000,4961.000000, 0.009385,0.990615, 730 chr21 19129844 19129845 rs533814326 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19129856 19129857 rs558849362 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19129890 19129891 rs577149807 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19129902 19129903 rs243572 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.177824 0.239355 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 494.000000,4514.000000, 0.098642,0.901358, maf-5-some-pop 730 chr21 19129903 19129904 rs556372862 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 730 chr21 19129909 19129910 rs4443079 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 1 SC_JCM, 1 C, 4.000000, 1.000000, 730 chr21 19129921 19129922 rs574553806 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19129926 19129927 rs148378866 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19129927 19129928 rs560283550 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19129939 19129940 rs753128434 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19129940 19129941 rs243573 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.177824 0.239355 unknown exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4514.000000,494.000000, 0.901358,0.098642, maf-5-some-pop 730 chr21 19129955 19129956 rs569453525 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19129960 19129961 rs546163085 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19129976 19129977 rs564828916 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19130003 19130004 rs376299346 0 + G G A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA-GONL,SSMP, 0 730 chr21 19130013 19130014 rs780284955 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130023 19130024 rs532006096 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19130036 19130037 rs11910625 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.041054 0.137264 unknown exact 1 3 1000GENOMES,CSHL-HAPMAP,WEILL_CORNELL_DGM, 2 C,T, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 730 chr21 19130047 19130048 rs747871450 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130053 19130054 rs769587727 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130054 19130055 rs568878160 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19130069 19130070 rs529766409 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19130070 19130071 rs191493002 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 3 1000GENOMES,SSMP,TISHKOFF, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19130073 19130074 rs145893865 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 1 1000GENOMES, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 730 chr21 19130090 19130091 rs773047534 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130092 19130093 rs534022252 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19130093 19130094 rs374674591 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19130112 19130113 rs773885560 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130130 19130131 rs570764083 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130168 19130169 rs531977173 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 730 chr21 19130169 19130170 rs556093080 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19130175 19130176 rs243574 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.473451 0.112115 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1927.000000,3081.000000, 0.384784,0.615216, maf-5-some-pop,maf-5-all-pops 730 chr21 19130176 19130177 rs112712109 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.319856 0.240042 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4007.000000,1001.000000, 0.800120,0.199880, maf-5-some-pop 730 chr21 19130186 19130187 rs184078205 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 730 chr21 19130187 19130188 rs761066068 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130218 19130219 rs243575 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.451234 0.14834 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3286.000000,1722.000000, 0.656150,0.343850, maf-5-some-pop,maf-5-all-pops 730 chr21 19130219 19130220 rs546424375 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19130230 19130231 rs368129181 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19130234 19130235 rs111330660 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,SSMP, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, 730 chr21 19130243 19130244 rs372159722 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19130293 19130294 rs576632919 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19130315 19130316 rs543759870 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130316 19130317 rs138256573 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 51.000000,4957.000000, 0.010184,0.989816, 730 chr21 19130321 19130322 rs113473948 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.234692 0.249531 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4328.000000,680.000000, 0.864217,0.135783, maf-5-some-pop 730 chr21 19130363 19130364 rs551699246 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130364 19130365 rs560339403 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19130400 19130401 rs569749187 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19130411 19130412 rs377026545 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19130414 19130415 rs552307915 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19130419 19130420 rs369644999 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19130425 19130426 rs146099467 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 730 chr21 19130426 19130427 rs549679363 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19130447 19130448 rs779988486 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19130453 19130454 rs372660590 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 730 chr21 19130454 19130455 rs189046729 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19130472 19130473 rs13050285 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19130474 19130475 rs13050287 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 730 chr21 19130498 19130499 rs375879555 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 730 chr21 19130542 19130543 rs535484060 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130560 19130561 rs531785250 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130561 19130562 rs73314022 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.228253 0.249052 unknown exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4350.000000,658.000000, 0.868610,0.131390, maf-5-some-pop 730 chr21 19130577 19130578 rs572540539 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130665 19130666 rs73892678 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.072631 0.176182 unknown exact 1 9 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4819.000000,189.000000, 0.962260,0.037740, maf-5-some-pop 730 chr21 19130669 19130670 rs138774524 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 730 chr21 19130674 19130675 rs576580857 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19130689 19130690 rs544114634 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19130696 19130697 rs562397888 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19130700 19130701 rs770848988 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19130717 19130718 rs574484953 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130752 19130753 rs149513212 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 G,T, 4985.000000,23.000000, 0.995407,0.004593, 730 chr21 19130781 19130782 rs560199704 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130796 19130807 rs772609612 0 + TCTCCCCTAAA TCTCCCCTAAA -/TCTCCCCTAAA genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 730 chr21 19130799 19130800 rs143991303 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19130843 19130844 rs527333983 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19130859 19130860 rs192672720 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130896 19130897 rs564273400 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130948 19130949 rs184473124 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19130983 19130984 rs549642575 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19130995 19130996 rs568059491 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19131013 19131014 rs112220509 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,G, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19131020 19131021 rs11911383 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.041054 0.137264 unknown exact 1 7 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 105.000000,4903.000000, 0.020967,0.979034, maf-5-some-pop 730 chr21 19131111 19131112 rs775200779 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131119 19131120 rs565940345 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19131132 19131133 rs539892116 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19131139 19131140 rs186743654 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 730 chr21 19131141 19131142 rs148664384 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 730 chr21 19131237 19131238 rs243576 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.422315 0.181128 unknown exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 1517.000000,3491.000000, 0.302915,0.697085, maf-5-some-pop,maf-5-all-pops 730 chr21 19131255 19131256 rs548553653 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19131282 19131283 rs375799590 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19131283 19131284 rs190590306 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19131300 19131301 rs763880365 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131302 19131303 rs144562343 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,MPI_MOLGEN, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 730 chr21 19131304 19131305 rs541751990 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19131319 19131320 rs147427187 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19131323 19131324 rs765736116 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131360 19131361 rs554046921 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19131365 19131366 rs571862048 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP, 2 C,G, 13.000000,4995.000000, 0.002596,0.997404, 730 chr21 19131371 19131372 rs758959400 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131404 19131405 rs12481884 0 + C C C/G genomic single by-hapmap 0 0 unknown exact 1 1 CSHL-HAPMAP, 0 730 chr21 19131412 19131413 rs139485748 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 730 chr21 19131418 19131419 rs564052536 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19131420 19131421 rs181946184 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19131474 19131475 rs751676210 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131475 19131476 rs8133428 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,EVA_DECODE,WI_SSAHASNP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19131497 19131498 rs561555235 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19131513 19131514 rs243577 0 - A A G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.056607 0.158427 unknown exact 1 31 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 4862.000000,146.000000, 0.970847,0.029153, maf-5-some-pop 730 chr21 19131521 19131522 rs368942286 0 + T T C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA-GONL,TISHKOFF, 0 730 chr21 19131569 19131570 rs547310464 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19131571 19131572 rs566029546 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19131583 19131584 rs533200915 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19131594 19131595 rs576458363 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19131677 19131678 rs545202858 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131691 19131692 rs534233583 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 730 chr21 19131713 19131714 rs185898203 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 730 chr21 19131714 19131715 rs537552042 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19131778 19131779 rs758394332 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19131799 19131800 rs372926590 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19131817 19131818 rs558710598 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19131848 19131857 rs750718666 0 + TTAAAAAAT TTAAAAAAT -/TTAAAAAAT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131873 19131874 rs757011179 0 + G G A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 730 chr21 19131876 19131877 rs243578 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.406641 0.194842 unknown exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3586.000000,1422.000000, 0.716054,0.283946, maf-5-some-pop,maf-5-all-pops 730 chr21 19131885 19131886 rs567883785 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19131905 19131906 rs745782019 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131912 19131913 rs772205064 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131941 19131942 rs145000825 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19131957 19131958 rs553426624 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19131959 19131960 rs571982926 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19131961 19131962 rs117555682 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.041819 0.138422 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4901.000000,107.000000, 0.978634,0.021366, 730 chr21 19131962 19131963 rs561177315 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19131977 19131978 rs768374417 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132068 19132069 rs776179909 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132096 19132097 rs557821601 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19132112 19132113 rs575687700 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19132173 19132174 rs754780056 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19132177 19132178 rs866594172 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19132180 19132181 rs543115992 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19132191 19132192 rs561516481 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132211 19132212 rs529068884 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19132215 19132216 rs541302049 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19132238 19132239 rs762178561 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132244 19132245 rs559435810 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19132246 19132247 rs780870643 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19132274 19132275 rs56888453 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 4 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, 730 chr21 19132281 19132282 rs150962015 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132290 19132291 rs139493659 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006374 0.056163 unknown exact 1 SingleClassTriAllelic 3 1000GENOMES,JMKIDD_LAB,SSIP, 3 A,C,T, 8.000000,8.000000,4992.000000, 0.001597,0.001597,0.996805, 730 chr21 19132302 19132303 rs764285846 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19132321 19132322 rs747776979 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19132331 19132332 rs189148400 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 730 chr21 19132345 19132346 rs567845862 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132379 19132380 rs535262724 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19132412 19132413 rs765506929 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132453 19132454 rs573164884 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 -,T, 21.000000,4987.000000, 0.004193,0.995807, 730 chr21 19132454 19132455 rs371839274 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19132482 19132483 rs149825575 0 + C C C/G genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 C,G, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19132519 19132520 rs73314027 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, 2 A,G, 4962.000000,46.000000, 0.990815,0.009185, 730 chr21 19132567 19132568 rs539324880 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19132578 19132579 rs370856619 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19132584 19132585 rs529680702 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19132607 19132608 rs773691334 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132613 19132614 rs243579 0 - C C G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.18989 0.242666 unknown exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 532.000000,4476.000000, 0.106230,0.893770, maf-5-some-pop 730 chr21 19132615 19132616 rs766917977 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132625 19132626 rs777325169 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19132626 19132627 rs181135879 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19132643 19132644 rs536713007 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19132657 19132658 rs145838103 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19132671 19132672 rs751586737 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132713 19132714 rs573498489 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19132715 19132716 rs759639782 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132724 19132725 rs540909485 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132736 19132737 rs73314033 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 4 1000GENOMES,COMPLETE_GENOMICS,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4983.000000,25.000000, 0.995008,0.004992, 730 chr21 19132739 19132740 rs145912678 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132795 19132796 rs752879823 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132814 19132815 rs545312392 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132837 19132838 rs376973074 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 730 chr21 19132865 19132866 rs530964741 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19132871 19132872 rs185638053 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132875 19132876 rs756420742 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19132931 19132932 rs11701256 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.137867 0.223442 unknown exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 373.000000,4635.000000, 0.074481,0.925519, maf-5-some-pop 730 chr21 19132932 19132933 rs528674731 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19132939 19132940 rs546835088 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19132955 19132956 rs373643031 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19132995 19132996 rs538934944 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19133027 19133028 rs551272228 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19133053 19133054 rs758388685 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133066 19133067 rs569293380 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19133073 19133074 rs146628644 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19133131 19133132 rs555036106 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19133141 19133142 rs191295681 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19133150 19133152 rs780306832 0 + TA TA -/TA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133159 19133160 rs534718743 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19133211 19133212 rs552864211 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19133253 19133254 rs11701775 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.200492 0.245049 unknown exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4442.000000,566.000000, 0.886981,0.113019, maf-5-some-pop 730 chr21 19133280 19133281 rs571459614 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19133286 19133287 rs544962404 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19133349 19133350 rs141238517 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 34.000000,4974.000000, 0.006789,0.993211, 730 chr21 19133367 19133368 rs768286658 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133378 19133379 rs575708323 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19133385 19133386 rs780811702 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133389 19133390 rs747749405 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133428 19133429 rs543082716 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19133429 19133430 rs74559656 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 730 chr21 19133434 19133435 rs528527572 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19133446 19133447 rs115859040 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 G,T, 4951.000000,57.000000, 0.988618,0.011382, 730 chr21 19133447 19133448 rs17761710 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.115438 0.210697 unknown exact 1 13 1000GENOMES,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 308.000000,4700.000000, 0.061502,0.938498, maf-5-some-pop 730 chr21 19133489 19133490 rs368180576 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19133490 19133491 rs771383521 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133494 19133495 rs774839697 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133495 19133496 rs759558037 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133511 19133512 rs372004566 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19133521 19133522 rs767483904 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133532 19133533 rs752892744 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133569 19133570 rs116451246 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 730 chr21 19133580 19133581 rs376602821 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 730 chr21 19133610 19133611 rs569251881 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19133623 19133624 rs530337267 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19133706 19133707 rs548523761 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19133739 19133740 rs547649393 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133767 19133768 rs368625997 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19133787 19133788 rs372896745 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19133790 19133791 rs113446099 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 4 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 730 chr21 19133826 19133827 rs780072110 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19133878 19133879 rs529002422 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19133901 19133902 rs75919559 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 4947.000000,61.000000, 0.987819,0.012180, 730 chr21 19133905 19133906 rs182837743 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19133932 19133933 rs536570258 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19133948 19133948 rs572365409 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 730 chr21 19134000 19134001 rs374498463 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,SSMP, 2 -,T, 12.000000,4996.000000, 0.002396,0.997604, 730 chr21 19134012 19134013 rs538875002 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19134034 19134035 rs755008539 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19134038 19134038 rs781717923 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 730 chr21 19134068 19134069 rs557281835 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19134086 19134087 rs542402415 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 730 chr21 19134098 19134099 rs186117159 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 730 chr21 19134112 19134113 rs192123528 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19134127 19134128 rs769278689 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19134142 19134143 rs554971135 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19134194 19134195 rs78958927 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 unknown exact 1 15 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4765.000000,243.000000, 0.951478,0.048522, maf-5-some-pop 730 chr21 19134202 19134203 rs749585341 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19134219 19134220 rs376240253 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 730 chr21 19134297 19134298 rs867018229 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19134327 19134328 rs763160778 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19134333 19134334 rs540356142 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19134335 19134336 rs567369692 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 730 chr21 19134382 19134383 rs112468767 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 730 chr21 19134385 19134386 rs532593231 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19134400 19134401 rs771295750 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19134410 19134411 rs868315853 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19134421 19134422 rs558788663 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19134428 19134429 rs183249316 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19134429 19134430 rs375152041 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 730 chr21 19134432 19134432 rs112012020 0 + - - -/AGAACTATG genomic insertion by-cluster,by-frequency,by-1000genomes 0.492679 0.060059 unknown between 1 11 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,AGAACTATG, 2807.000000,2201.000000, 0.560503,0.439497, maf-5-some-pop,maf-5-all-pops 730 chr21 19134436 19134437 rs75915658 0 + A A A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BL, 0 730 chr21 19134436 19134436 rs59159784 0 + - - -/CTATGAGAA genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 GMI,HGSV, 0 730 chr21 19134487 19134488 rs762419869 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 DDI, 0 730 chr21 19134499 19134500 rs774757915 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19134539 19134540 rs760034436 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19134550 19134551 rs544360523 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19134565 19134566 rs369011882 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19134584 19134585 rs141494369 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4961.000000,47.000000, 0.990615,0.009385, 730 chr21 19134585 19134586 rs867466960 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 730 chr21 19134586 19134587 rs748987748 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 730 chr21 19134627 19134628 rs35552875 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 730 chr21 19134744 19134745 rs553411154 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,T, 27.000000,4981.000000, 0.005391,0.994609, 730 chr21 19134764 19134765 rs28483951 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.492918 0.059082 unknown exact 1 17 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 2206.000000,2802.000000, 0.440495,0.559505, maf-5-some-pop,maf-5-all-pops 730 chr21 19134777 19134778 rs567138389 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19134850 19134851 rs187278548 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19134858 19134859 rs8131431 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496175 0.043562 unknown exact 1 25 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2285.000000,2723.000000, 0.456270,0.543730, maf-5-some-pop,maf-5-all-pops 730 chr21 19134877 19134878 rs571362033 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19134941 19134942 rs574763884 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19134960 19134961 rs78817222 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.097727 0.198275 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4750.000000,258.000000, 0.948482,0.051518, maf-5-some-pop 730 chr21 19134961 19134962 rs536322113 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 730 chr21 19134970 19134971 rs192167339 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19134975 19134976 rs183009104 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19134987 19134988 rs776999507 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19134995 19134996 rs188188000 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19135000 19135001 rs752499735 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19135019 19135020 rs573133283 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135029 19135030 rs563292113 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19135041 19135042 rs762780364 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135046 19135047 rs77747990 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 730 chr21 19135068 19135069 rs766270742 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135107 19135108 rs74962648 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 730 chr21 19135149 19135150 rs549139398 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135182 19135183 rs372212009 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 730 chr21 19135190 19135191 rs751438316 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135214 19135215 rs576765260 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19135218 19135219 rs369633484 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135233 19135234 rs75005932 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.19334 0.243495 unknown exact 1 16 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4465.000000,543.000000, 0.891573,0.108427, maf-5-some-pop 730 chr21 19135239 19135240 rs140715135 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.087997 0.190408 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,T, 231.000000,4777.000000, 0.046126,0.953874, 730 chr21 19135263 19135276 rs748971726 0 + TACTCTATGGCTA TACTCTATGGCTA -/TACTCTATGGCTA genomic deletion by-cluster 0 0 unknown range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135268 19135269 rs150427475 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19135287 19135288 rs138610702 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19135292 19135293 rs13052297 0 + T T G/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 SSAHASNP, 1 T, 418.000000, 1.000000, 730 chr21 19135339 19135340 rs542098543 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19135343 19135344 rs560889924 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19135350 19135351 rs28542969 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.343254 0.231956 unknown exact 1 18 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3906.000000,1102.000000, 0.779952,0.220048, maf-5-some-pop,maf-5-all-pops 730 chr21 19135376 19135378 rs745656297 0 + AG AG -/AG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135378 19135379 rs142794281 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19135393 19135394 rs77329015 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19135415 19135416 rs113982894 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 730 chr21 19135425 19135426 rs78976846 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 unknown exact 1 15 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4764.000000,244.000000, 0.951278,0.048722, maf-5-some-pop 730 chr21 19135427 19135428 rs77260420 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19135433 19135434 rs374541972 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19135450 19135451 rs547561910 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19135454 19135455 rs187599502 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WARNICH_LAB, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 730 chr21 19135465 19135466 rs370327796 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 730 chr21 19135478 19135479 rs536478485 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19135497 19135498 rs78818610 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 unknown exact 1 16 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4717.000000,291.000000, 0.941893,0.058107, maf-5-some-pop 730 chr21 19135498 19135499 rs566797997 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19135501 19135502 rs748928884 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135508 19135509 rs367978218 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 730 chr21 19135528 19135529 rs533848436 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 730 chr21 19135533 19135534 rs756973024 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135534 19135535 rs779221594 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135626 19135627 rs558884354 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135646 19135647 rs192421124 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135690 19135691 rs746297489 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135701 19135702 rs772411644 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135702 19135703 rs184970965 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 730 chr21 19135706 19135707 rs781604245 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 730 chr21 19135711 19135712 rs530408571 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 730 chr21 19135718 19135719 rs143428319 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19135785 19135786 rs574692824 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19135833 19135834 rs542061402 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135845 19135846 rs560531812 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135857 19135858 rs572650104 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19135859 19135860 rs143846362 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19135900 19135901 rs75299623 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 unknown exact 1 15 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 244.000000,4764.000000, 0.048722,0.951278, maf-5-some-pop 730 chr21 19135912 19135915 rs775187413 0 + AGA AGA -/AGA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135928 19135929 rs776915958 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19135957 19135958 rs532178068 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 730 chr21 19135965 19135967 rs575535833 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 2 1000GENOMES,EVA_DECODE, 2 -,TT, 3.000000,5005.000000, 0.000599,0.999401, 730 chr21 19135972 19135977 rs770505258 0 + AAAAA AAAAA -/AAAAA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 SSMP, 0 730 chr21 19135972 19135972 rs560997237 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 EVA_GENOME_DK,SSIP, 0 730 chr21 19136010 19136011 rs113662920 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 47.000000,4961.000000, 0.009385,0.990615, 730 chr21 19136039 19136040 rs142134856 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,MPI_MOLGEN, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 730 chr21 19136045 19136046 rs552670617 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 730 chr21 19136047 19136048 rs189595091 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19136051 19136052 rs77167116 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 730 chr21 19136109 19136110 rs151164692 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 730 chr21 19136113 19136114 rs2824482 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.140919 0.224948 unknown exact 1 13 1000GENOMES,AFFY,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 382.000000,4626.000000, 0.076278,0.923722, maf-5-some-pop 730 chr21 19136125 19136126 rs139719127 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 730 chr21 19136206 19136207 rs181529911 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19136208 19136209 rs556231945 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19136288 19136289 rs574554050 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 730 chr21 19136301 19136302 rs185353069 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 730 chr21 19136302 19136303 rs535151847 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 730 chr21 19136307 19136308 rs144370870 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 730 chr21 19136313 19136314 rs146639518 0 + G G C/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,G, 20.000000,4988.000000, 0.003994,0.996006, 730 chr21 19136402 19136403 rs756060953 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 730 chr21 19136486 19136487 rs546459077 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19136516 19136517 rs117086874 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 731 chr21 19136545 19136546 rs79999361 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4852.000000,156.000000, 0.968850,0.031150, maf-5-some-pop 731 chr21 19136549 19136550 rs756885161 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19136562 19136563 rs141380302 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19136580 19136581 rs562475705 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19136712 19136713 rs529787012 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19136739 19136740 rs78638242 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 133.000000,4875.000000, 0.026557,0.973442, maf-5-some-pop 731 chr21 19136767 19136768 rs746180416 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19136772 19136773 rs758794820 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19136776 19136777 rs55807942 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19136788 19136789 rs767405915 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19136808 19136809 rs145732090 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19136809 19136810 rs80313761 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 unknown exact 1 14 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4764.000000,244.000000, 0.951278,0.048722, maf-5-some-pop 731 chr21 19136850 19136852 rs763682413 0 + AC AC -/AC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19136850 19136850 rs3074988 0 + - - -/AC/ACACAC genomic insertion by-cluster,by-frequency,by-1000genomes 0.328231 0.237651 unknown between 1 MixedObserved 7 1000GENOMES,DDI,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,SSMP, 3 -,AC,ACACAC, 3972.000000,1035.000000,1.000000, 0.793131,0.206669,0.000200, 731 chr21 19136851 19136854 rs762311708 0 + CAC CAC -/CAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19136852 19136852 rs746142455 0 + - - -/AC/TC genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19136870 19136871 rs113103991 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 4 1000GENOMES,BUSHMAN,GMI,JMKIDD_LAB, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19136870 19136870 rs397778295 0 + - - -/AC genomic insertion unknown 0 0 unknown between 1 MixedObserved 3 ABI,HGSV,TSC-CSHL, 0 731 chr21 19136872 19136873 rs541660610 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19136902 19136903 rs760346774 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19136931 19136935 rs759003213 0 + TGAC TGAC -/TGAC genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 731 chr21 19136952 19136953 rs531513408 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19136988 19136989 rs769326177 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19136995 19136996 rs189811896 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19137021 19137022 rs79936784 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19137034 19137035 rs781397254 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137035 19137036 rs867726928 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19137048 19137049 rs143725410 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19137098 19137099 rs75324792 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 64.000000,4944.000000, 0.012780,0.987220, maf-5-some-pop 731 chr21 19137105 19137106 rs554005340 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19137110 19137111 rs566239615 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19137133 19137134 rs372217014 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19137170 19137171 rs78000170 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19137182 19137183 rs148106141 0 + G G G/T genomic single by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 1 1000GENOMES, 2 G,T, 4975.000000,33.000000, 0.993411,0.006589, 731 chr21 19137184 19137185 rs74691595 0 + T T A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19137189 19137190 rs181313136 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19137206 19137207 rs545502212 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19137247 19137248 rs544149772 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19137258 19137259 rs750843308 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137306 19137307 rs556161825 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19137314 19137315 rs770097486 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137335 19137336 rs574383864 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19137348 19137349 rs759192652 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137360 19137361 rs541888213 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19137364 19137365 rs146973223 0 + T T C/T genomic single by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 1 1000GENOMES, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19137393 19137394 rs556270974 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19137443 19137444 rs78010665 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 unknown exact 1 12 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,MPI_MOLGEN,WEILL_CORNELL_DGM, 2 A,G, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 731 chr21 19137453 19137454 rs775218672 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137457 19137458 rs760631886 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137484 19137485 rs563944662 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19137492 19137493 rs185903509 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19137547 19137548 rs138206033 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19137558 19137559 rs74632412 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 40.000000,4968.000000, 0.007987,0.992013, maf-5-some-pop 731 chr21 19137608 19137609 rs529296878 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19137612 19137613 rs547865945 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19137619 19137620 rs566079840 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19137626 19137627 rs539931622 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19137627 19137635 rs146416660 0 + CATTAGAA CATTAGAA -/CATTAGAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 unknown range 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,CATTAGAA, 244.000000,4764.000000, 0.048722,0.951278, maf-5-some-pop 731 chr21 19137627 19137627 rs778806420 0 + - - -/CATTAGAA genomic insertion unknown 0 0 unknown between 1 1 DDI, 0 731 chr21 19137630 19137638 rs377704398 0 + TAGAACAT TAGAACAT -/TAGAACAT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 731 chr21 19137684 19137690 rs144754556 0 + TTATAA TTATAA -/TTATAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown range 1 2 1000GENOMES,LUNTER, 2 -,TTATAA, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19137711 19137712 rs189803075 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19137724 19137728 rs561139518 0 + TAAT TAAT -/TAAT genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 731 chr21 19137726 19137727 rs143777266 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4969.000000,39.000000, 0.992212,0.007788, 731 chr21 19137736 19137737 rs576141388 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19137749 19137750 rs150586407 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19137821 19137822 rs537725578 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19137838 19137839 rs750105745 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137841 19137842 rs755484975 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19137846 19137847 rs181779887 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19137865 19137866 rs79208996 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BGI, 0 731 chr21 19137941 19137942 rs574372945 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 731 chr21 19137963 19137964 rs139481012 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 731 chr21 19137981 19137982 rs781586925 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19137992 19137993 rs758045196 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19137996 19137997 rs553741304 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138020 19138021 rs572001760 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138034 19138035 rs780433572 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138070 19138071 rs545518794 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138088 19138089 rs55765404 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,HGSV, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138098 19138099 rs575864594 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138100 19138101 rs867051431 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19138101 19138102 rs751916949 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138128 19138129 rs144505800 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 1 1000GENOMES, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 731 chr21 19138168 19138170 rs748715958 0 + AA AA -/AA genomic deletion by-cluster 0 0 unknown range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138175 19138176 rs770001794 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138191 19138192 rs561692160 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138195 19138196 rs186203180 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19138214 19138215 rs529358343 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19138244 19138245 rs77695468 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19138248 19138249 rs191011781 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138289 19138290 rs533236409 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19138296 19138297 rs182884881 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138327 19138328 rs781772174 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138352 19138353 rs570243122 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138361 19138362 rs537690322 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138392 19138393 rs549690982 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19138431 19138432 rs567824588 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19138434 19138435 rs7280504 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.078884 0.182262 unknown exact 1 11 1000GENOMES,BCM_SSAHASNP,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 206.000000,4802.000000, 0.041134,0.958866, maf-5-some-pop 731 chr21 19138436 19138437 rs549224899 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19138437 19138438 rs777771148 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138443 19138444 rs2130317 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.245346 0.249957 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 717.000000,4291.000000, 0.143171,0.856829, maf-5-some-pop 731 chr21 19138447 19138448 rs112839118 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 unknown exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 731 chr21 19138451 19138452 rs374840904 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19138475 19138476 rs575827407 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19138479 19138480 rs188404075 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19138483 19138484 rs191227969 0 + A A A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19138488 19138489 rs573807260 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138503 19138504 rs541339108 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19138504 19138505 rs369275351 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003191 0.039838 unknown exact 1 SingleClassTriAllelic 4 1000GENOMES,EVA_DECODE,SSMP,WEILL_CORNELL_DGM, 3 C,G,T, 5000.000000,3.000000,5.000000, 0.998403,0.000599,0.000998, 731 chr21 19138505 19138506 rs140125963 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.054747 0.156232 unknown exact 1 SingleClassTriAllelic 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 3 A,C,G, 4867.000000,2.000000,139.000000, 0.971845,0.000399,0.027756, 731 chr21 19138512 19138513 rs531038323 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19138513 19138514 rs566113943 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19138515 19138516 rs243580 0 - T T A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,KWOK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19138519 19138520 rs371368825 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,TISHKOFF, 0 731 chr21 19138520 19138521 rs567873232 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138522 19138525 rs774722266 0 + CAC CAC CAC/TAT genomic mnp unknown 0 0 unknown rangeSubstitution 1 FlankMismatchGenomeEqual 1 TISHKOFF, 0 731 chr21 19138524 19138525 rs375462050 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,JMKIDD_LAB,SSMP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19138525 19138526 rs536986126 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138527 19138528 rs776554689 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138536 19138537 rs1686639 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.469839 0.119042 unknown exact 1 20 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1889.000000,3119.000000, 0.377196,0.622804, maf-5-some-pop,maf-5-all-pops 731 chr21 19138545 19138546 rs781348897 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138554 19138555 rs539090885 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19138559 19138560 rs866131849 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19138561 19138562 rs764915882 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138564 19138565 rs9975340 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.143959 0.226396 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 391.000000,4617.000000, 0.078075,0.921925, maf-5-some-pop 731 chr21 19138566 19138567 rs569370024 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138569 19138570 rs9976048 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.127599 0.217986 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4665.000000,343.000000, 0.931510,0.068490, maf-5-some-pop 731 chr21 19138571 19138572 rs370412266 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,TISHKOFF, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19138574 19138575 rs757801997 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138577 19138578 rs149974548 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.209388 0.246679 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4413.000000,595.000000, 0.881190,0.118810, maf-5-some-pop 731 chr21 19138578 19138579 rs779634712 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138579 19138580 rs540946142 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138580 19138581 rs7275251 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 unknown exact 1 4 1000GENOMES,BCM_SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 731 chr21 19138581 19138582 rs7280666 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.247621 0.249989 unknown exact 1 10 1000GENOMES,BCM_SSAHASNP,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 725.000000,4283.000000, 0.144768,0.855232, maf-5-some-pop 731 chr21 19138582 19138583 rs377066254 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19138589 19138590 rs545158323 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19138591 19138592 rs546144706 0 + C C A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 731 chr21 19138592 19138593 rs563678297 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138600 19138601 rs531001447 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19138602 19138603 rs372409085 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.209693 0.246729 unknown exact 1 5 1000GENOMES,EVA-GONL,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4412.000000,596.000000, 0.880990,0.119010, maf-5-some-pop 731 chr21 19138607 19138608 rs112044421 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.245346 0.249957 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 717.000000,4291.000000, 0.143171,0.856829, maf-5-some-pop 731 chr21 19138624 19138625 rs528709611 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19138625 19138626 rs113421941 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.077784 0.181223 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 203.000000,4805.000000, 0.040535,0.959465, maf-5-some-pop 731 chr21 19138631 19138632 rs753086390 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138633 19138634 rs756648164 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138640 19138641 rs376672031 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19138641 19138642 rs571646719 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19138657 19138658 rs243581 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.011514 0.074997 unknown exact 1 27 1000GENOMES,ABI,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19138663 19138664 rs550914547 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19138664 19138665 rs187730030 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19138666 19138667 rs749726947 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138673 19138674 rs543678067 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19138677 19138678 rs191361012 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19138690 19138691 rs183890090 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,C, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 731 chr21 19138695 19138696 rs187881025 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19138696 19138697 rs192654768 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19138698 19138699 rs374684442 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19138700 19138701 rs185121727 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19138703 19138704 rs190001002 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19138719 19138720 rs548666956 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19138754 19138755 rs7280959 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 unknown exact 1 6 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 731 chr21 19138777 19138778 rs575746535 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138802 19138803 rs368633014 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19138815 19138816 rs561476608 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138828 19138829 rs775647939 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19138924 19138925 rs528667699 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19138939 19138940 rs540778139 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19138945 19138946 rs565140258 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19138958 19138959 rs34747096 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 731 chr21 19138960 19138961 rs531060494 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19138989 19138990 rs532637762 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139010 19139011 rs756749315 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139024 19139025 rs79720263 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 731 chr21 19139041 19139041 rs374547413 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 731 chr21 19139055 19139056 rs867405624 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19139071 19139072 rs373661166 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19139073 19139074 rs138149716 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19139148 19139149 rs367763575 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19139168 19139169 rs777881816 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139191 19139192 rs530575212 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139229 19139230 rs749380046 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139246 19139247 rs114828188 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 731 chr21 19139268 19139269 rs567313914 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19139284 19139285 rs534424318 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139313 19139314 rs570663532 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139325 19139326 rs546746638 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139339 19139340 rs143198718 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139376 19139377 rs746739823 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139382 19139383 rs538921636 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19139383 19139384 rs768453793 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139384 19139385 rs181181571 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139395 19139396 rs376157518 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19139403 19139404 rs776469242 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139416 19139417 rs77778090 0 + C C A/C genomic single by-frequency,by-1000genomes 0.04875 0.148319 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,117.000000, 0.025000,0.975000, 731 chr21 19139434 19139435 rs748076231 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139477 19139478 rs769667542 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139480 19139481 rs77556414 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 731 chr21 19139486 19139487 rs536689329 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139488 19139489 rs554673703 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19139490 19139491 rs371586284 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19139492 19139493 rs761632957 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19139493 19139494 rs573240415 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19139524 19139525 rs111841144 0 + G G C/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19139538 19139539 rs148264778 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139546 19139547 rs765045673 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19139604 19139605 rs141157846 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19139696 19139697 rs376105616 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19139711 19139712 rs372374661 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19139714 19139715 rs772727330 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139737 19139738 rs544500263 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139743 19139744 rs762400358 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139745 19139746 rs75144913 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 731 chr21 19139747 19139748 rs530338560 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19139748 19139749 rs774155910 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139774 19139775 rs2824483 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.489665 0.071138 unknown exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2144.000000,2864.000000, 0.428115,0.571885, maf-5-some-pop,microattr-tpa 731 chr21 19139791 19139792 rs560744423 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139797 19139798 rs184840361 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19139823 19139824 rs188689925 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19139840 19139841 rs180767998 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19139861 19139862 rs767291560 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,EVA_GENOME_DK, 0 731 chr21 19139885 19139886 rs753149284 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139895 19139896 rs756669466 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139896 19139897 rs73314038 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19139910 19139911 rs465265 0 - C C G/T genomic single unknown 0 0 unknown exact 1 1 SC_JCM, 2 G,T, 184.000000,0.000000, 1.000000,0.000000, 731 chr21 19139911 19139912 rs185268089 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19139915 19139916 rs569090892 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19139932 19139933 rs764535023 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139952 19139953 rs866634185 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19139961 19139962 rs536157463 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19139972 19139973 rs753917798 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19139981 19139982 rs62212920 0 + C C C/T genomic single unknown 0.132653 0.220748 unknown exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 C,T, 13.000000,1.000000, 0.928571,0.071429, 731 chr21 19139996 19139997 rs554919480 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19140022 19140023 rs573170400 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19140061 19140062 rs756564086 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19140064 19140065 rs118122802 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19140083 19140084 rs558653471 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19140091 19140092 rs75878350 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19140092 19140093 rs531587806 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19140094 19140094 rs201033904 0 + - - -/TG genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 731 chr21 19140095 19140096 rs74775104 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 3 BCM-HGSC-SUB,GMI,ILLUMINA, 0 731 chr21 19140095 19140095 rs11410883 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.49607 0.044155 unknown between 1 MixedObserved 15 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, 2 -,G, 2282.000000,2726.000000, 0.455671,0.544329, maf-5-some-pop,maf-5-all-pops 731 chr21 19140104 19140105 rs79951374 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19140109 19140110 rs6517787 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.4941 0.053992 unknown exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 2232.000000,2776.000000, 0.445687,0.554313, maf-5-some-pop,genotype-conflict 731 chr21 19140138 19140139 rs544360556 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19140157 19140158 rs562748318 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19140187 19140188 rs779139054 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140195 19140196 rs543061272 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19140199 19140200 rs866138436 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19140260 19140261 rs575051563 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19140287 19140288 rs538711923 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 -,A, 20.000000,4988.000000, 0.003994,0.996006, 731 chr21 19140338 19140339 rs118001358 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 731 chr21 19140391 19140392 rs560926576 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19140397 19140398 rs190723900 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19140429 19140430 rs780936645 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140471 19140472 rs546711856 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19140473 19140474 rs747957760 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140477 19140478 rs565010783 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19140485 19140486 rs769729292 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140514 19140515 rs182123718 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19140519 19140520 rs550746218 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19140523 19140524 rs74799926 0 + G G C/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19140551 19140552 rs867824536 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19140615 19140616 rs186850992 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19140755 19140756 rs529965644 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19140799 19140803 rs150052850 0 + TCTG TCTG -/TCTG genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 731 chr21 19140825 19140826 rs548222069 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19140885 19140886 rs773026271 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140887 19140888 rs9982053 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.220843 0.248294 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 633.000000,4375.000000, 0.126398,0.873602, maf-5-some-pop 731 chr21 19140891 19140892 rs533971683 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 731 chr21 19140895 19140896 rs774068172 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140909 19140910 rs759231366 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140922 19140923 rs558538348 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19140990 19140991 rs767329637 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19140992 19140993 rs115240827 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4969.000000,39.000000, 0.992212,0.007788, maf-5-some-pop 731 chr21 19141019 19141020 rs191636071 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19141022 19141023 rs764599923 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19141027 19141028 rs556684974 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19141069 19141070 rs574970040 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19141071 19141072 rs377320819 0 + G G A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 731 chr21 19141074 19141077 rs747635030 0 + AGA AGA -/AGA genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 731 chr21 19141115 19141116 rs757841238 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19141147 19141148 rs150707624 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19141151 19141152 rs765228406 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19141167 19141168 rs74482362 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 98.000000,4910.000000, 0.019569,0.980431, maf-5-some-pop 731 chr21 19141187 19141188 rs77790407 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 731 chr21 19141282 19141283 rs780284815 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19141289 19141290 rs115320744 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4958.000000,50.000000, 0.990016,0.009984, maf-5-some-pop 731 chr21 19141294 19141295 rs564875163 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19141331 19141332 rs118128733 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 28.000000,4980.000000, 0.005591,0.994409, 731 chr21 19141334 19141335 rs777677705 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19141371 19141372 rs137883113 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19141421 19141422 rs562686691 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19141437 19141438 rs529876053 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19141444 19141445 rs116291789 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.069672 0.173152 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4827.000000,181.000000, 0.963858,0.036142, maf-5-some-pop 731 chr21 19141560 19141561 rs142499778 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 731 chr21 19141587 19141588 rs200500086 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 2 1000GENOMES,LUNTER, 2 -,A, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 731 chr21 19141599 19141600 rs145965374 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 731 chr21 19141610 19141611 rs552126654 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19141631 19141632 rs770939010 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19141641 19141642 rs140145537 0 + A A A/C genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19141691 19141692 rs537934510 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19141723 19141724 rs113832661 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19141725 19141726 rs867016246 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19141735 19141736 rs183798832 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19141736 19141737 rs568639125 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19141739 19141740 rs149817728 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19141781 19141782 rs144848511 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19141849 19141850 rs572728322 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19141864 19141865 rs546539896 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19141958 19141959 rs558552125 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19141978 19141979 rs187887906 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142066 19142067 rs7278689 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 7 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 133.000000,4875.000000, 0.026557,0.973442, maf-5-some-pop 731 chr21 19142069 19142069 rs201279674 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown between 1 2 1000GENOMES,EVA_GENOME_DK, 2 -,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19142079 19142080 rs562490408 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142080 19142081 rs190430716 0 + A A A/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 A,T, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19142082 19142083 rs541613893 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19142092 19142093 rs78707080 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 731 chr21 19142105 19142106 rs866615613 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19142110 19142111 rs148575743 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142116 19142117 rs2220512 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499396 0.017362 unknown exact 1 28 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2417.000000,2591.000000, 0.482628,0.517372, maf-5-some-pop,maf-5-all-pops 731 chr21 19142117 19142118 rs564120741 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142120 19142121 rs531643068 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19142142 19142143 rs182260460 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19142144 19142145 rs761046721 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19142170 19142171 rs568418434 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19142209 19142210 rs866445603 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19142217 19142218 rs544088647 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19142220 19142221 rs768890318 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19142228 19142229 rs186826551 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19142261 19142262 rs192358255 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19142282 19142283 rs2171803 0 - A A G/T genomic single by-cluster,by-frequency,by-1000genomes 0.074106 0.177655 unknown exact 1 15 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 193.000000,4815.000000, 0.038538,0.961462, maf-5-some-pop 731 chr21 19142283 19142284 rs765784190 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19142305 19142306 rs750460387 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19142327 19142328 rs769518798 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 731 chr21 19142331 19142332 rs540119980 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142365 19142366 rs763024543 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19142425 19142426 rs58488447 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HGSV, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19142485 19142486 rs183975441 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142506 19142507 rs542646690 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19142527 19142528 rs188527997 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19142528 19142529 rs559732975 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19142540 19142541 rs192876503 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19142541 19142542 rs574421406 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19142592 19142593 rs541925308 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19142593 19142594 rs559902435 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142619 19142620 rs185403723 0 + G G G/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 G,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19142653 19142654 rs762506632 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19142718 19142719 rs545690962 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19142722 19142723 rs144756256 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19142759 19142760 rs188545195 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142771 19142775 rs771870972 0 + TGAG TGAG -/TGAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19142790 19142791 rs549862662 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142805 19142806 rs562137730 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19142833 19142834 rs191857111 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142857 19142858 rs547906711 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19142903 19142904 rs766113247 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19142904 19142905 rs546457883 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19142916 19142917 rs540086094 0 + G G A/G genomic single by-frequency,by-1000genomes 0.066703 0.170006 unknown exact 1 1 1000GENOMES, 2 A,G, 173.000000,4835.000000, 0.034545,0.965455, maf-5-some-pop 731 chr21 19142917 19142921 rs148198751 0 + TTGT TTGT -/TTGT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 10 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 0 731 chr21 19142923 19142924 rs200005351 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19143016 19143017 rs552094856 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19143046 19143047 rs755290706 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19143054 19143055 rs200797837 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19143069 19143070 rs147897450 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4895.000000,113.000000, 0.977436,0.022564, maf-5-some-pop 731 chr21 19143106 19143107 rs537770251 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19143143 19143144 rs7283076 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499539 0.015169 unknown exact 1 11 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,DDI,EVA-GONL,GMI,HAMMER_LAB,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 C,G, 2428.000000,2580.000000, 0.484824,0.515176, maf-5-some-pop,maf-5-all-pops 731 chr21 19143155 19143156 rs574407309 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19143188 19143189 rs183456049 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 G,T, 4969.000000,39.000000, 0.992212,0.007788, 731 chr21 19143222 19143223 rs150130714 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19143246 19143247 rs568877227 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19143402 19143403 rs571898209 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19143420 19143421 rs545549825 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19143421 19143422 rs796631516 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 731 chr21 19143431 19143432 rs866132741 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19143469 19143470 rs9983356 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.499424 0.016963 unknown exact 1 14 1000GENOMES,ABI,BL,BUSHMAN,DDI,EVA-GONL,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2589.000000,2419.000000, 0.516973,0.483027, maf-5-some-pop,maf-5-all-pops 731 chr21 19143552 19143553 rs868052219 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19143570 19143571 rs148890270 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19143571 19143572 rs543717891 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19143596 19143597 rs188228736 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19143601 19143602 rs182242816 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19143616 19143617 rs529316485 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19143694 19143695 rs541164694 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19143725 19143726 rs559928036 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19143747 19143748 rs145552103 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19143751 19143752 rs551976405 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19143761 19143762 rs570278473 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19143762 19143763 rs531094190 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19143777 19143778 rs549677111 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19143795 19143796 rs567957737 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19143799 19143800 rs371795660 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19143809 19143810 rs796539525 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 731 chr21 19143816 19143817 rs187124800 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19143831 19143832 rs190744645 0 + A A A/C genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19143835 19143836 rs777396526 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19143895 19143896 rs753714082 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19143917 19143918 rs565392870 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19143922 19143922 rs776189944 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19143927 19143928 rs557837790 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19143938 19143939 rs113676205 0 + T T A/T genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19143989 19143990 rs539170988 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144012 19144013 rs745315767 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144017 19144021 rs554825865 0 + CAAA CAAA -/CAAA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,CAAA, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19144035 19144036 rs771724759 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144068 19144069 rs796552276 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 731 chr21 19144085 19144086 rs759077400 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19144093 19144094 rs557498246 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19144148 19144149 rs767157881 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19144209 19144210 rs576222105 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19144216 19144217 rs139119282 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.056983 0.158885 unknown exact 1 11 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4861.000000,147.000000, 0.970647,0.029353, maf-5-some-pop 731 chr21 19144220 19144221 rs746637955 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144224 19144227 rs574731275 0 + TTC TTC -/TTC genomic deletion by-frequency,by-1000genomes 0.000798 0.019964 unknown range 1 1 1000GENOMES, 2 -,TTC, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19144237 19144238 rs757846038 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19144248 19144249 rs768395563 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144278 19144279 rs181710304 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19144340 19144341 rs776839646 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144377 19144378 rs573942579 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144400 19144401 rs762268221 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144407 19144408 rs540059247 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19144415 19144416 rs9983684 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.214541 0.247473 unknown exact 1 14 1000GENOMES,BGI,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4396.000000,612.000000, 0.877796,0.122204, maf-5-some-pop 731 chr21 19144420 19144421 rs114606947 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4875.000000,133.000000, 0.973442,0.026557, maf-5-some-pop 731 chr21 19144488 19144489 rs533429983 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19144489 19144490 rs373817734 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 731 chr21 19144493 19144494 rs868269144 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19144500 19144501 rs563708426 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19144516 19144517 rs531179593 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 731 chr21 19144570 19144571 rs766437410 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144586 19144587 rs751697334 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144604 19144605 rs549400491 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19144605 19144606 rs142331654 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 18.000000,4990.000000, 0.003594,0.996406, 731 chr21 19144644 19144645 rs528782079 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144647 19144648 rs113445500 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4949.000000,59.000000, 0.988219,0.011781, 731 chr21 19144659 19144660 rs565354258 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19144664 19144665 rs753539880 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144678 19144679 rs561930459 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19144686 19144687 rs557461359 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144706 19144707 rs569749423 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144753 19144754 rs186252220 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144765 19144766 rs367957239 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19144768 19144769 rs750377021 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144789 19144790 rs372167859 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19144856 19144857 rs575595334 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19144869 19144870 rs377031151 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19144870 19144871 rs190081146 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144912 19144913 rs553387302 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19144915 19144916 rs138564111 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19144919 19144920 rs544337007 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19144941 19144942 rs6517788 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493477 0.056735 unknown exact 1 16 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2790.000000,2218.000000, 0.557109,0.442891, maf-5-some-pop,maf-5-all-pops 731 chr21 19144964 19144965 rs563843596 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19145070 19145071 rs575655933 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19145084 19145085 rs543156747 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19145096 19145097 rs561347775 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19145115 19145116 rs528727805 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19145133 19145134 rs546925443 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19145159 19145160 rs150865695 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19145198 19145199 rs34064261 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.315758 0.241197 unknown exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 984.000000,4024.000000, 0.196486,0.803514, maf-5-some-pop 731 chr21 19145208 19145209 rs182691831 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19145219 19145220 rs200983399 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19145389 19145390 rs201282834 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0.051704 0.152246 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,A, 133.000000,4875.000000, 0.026557,0.973442, 731 chr21 19145403 19145404 rs113920465 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 731 chr21 19145461 19145462 rs569692609 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19145495 19145496 rs185203935 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19145561 19145562 rs549127197 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19145577 19145578 rs567382721 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19145690 19145691 rs754998767 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19145712 19145713 rs190846642 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19145798 19145799 rs559951777 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19145811 19145812 rs781260281 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19145815 19145816 rs182994109 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19145818 19145822 rs773675424 0 + CTTT CTTT -/CTTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19145826 19145827 rs578061746 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19145836 19145837 rs538992402 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19145837 19145838 rs188697607 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19145868 19145869 rs867646540 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19145891 19145895 rs763325277 0 + CTGT CTGT -/CTGT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19145895 19145896 rs11088652 0 + C C A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499551 0.014969 unknown exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 17 1000GENOMES,BL,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2429.000000,2579.000000, 0.485024,0.514976, maf-5-some-pop,maf-5-all-pops 731 chr21 19145895 19145896 rs202017849 0 + C C -/C genomic deletion by-1000genomes 0 0 unknown exact 1 MixedObserved 1 1000GENOMES, 0 731 chr21 19145898 19145899 rs55976211 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 unknown exact 1 4 1000GENOMES,HGSV,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 731 chr21 19145920 19145921 rs748009066 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19145931 19145932 rs11504939 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.165527 0.235296 unknown exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4552.000000,456.000000, 0.908946,0.091054, maf-5-some-pop 731 chr21 19145953 19145954 rs9975524 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.37138 0.218556 unknown exact 1 14 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1234.000000,3774.000000, 0.246406,0.753594, maf-5-some-pop,maf-5-all-pops 731 chr21 19145986 19145987 rs111278759 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 731 chr21 19145988 19145989 rs147321364 0 + A A A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19145988 19145989 rs751816484 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19145992 19145993 rs75961138 0 - T T A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19146016 19146017 rs551161505 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19146129 19146130 rs565278566 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19146160 19146161 rs77480105 0 - T T A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19146180 19146181 rs183410155 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19146199 19146200 rs551311123 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19146217 19146218 rs77775986 0 + A A A/G genomic single by-cluster,by-frequency 0.5 0 unknown exact 1 2 ENSEMBL,GMI, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 731 chr21 19146224 19146225 rs749763342 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19146236 19146237 rs771475704 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19146237 19146238 rs79113757 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19146286 19146287 rs74497740 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19146318 19146319 rs530613161 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19146331 19146332 rs79292733 0 - G G C/G genomic single unknown 0 0 unknown exact 1 1 BGI, 0 731 chr21 19146409 19146410 rs548832883 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19146412 19146413 rs567465797 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19146424 19146425 rs377009855 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19146431 19146432 rs534853952 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19146448 19146449 rs546825460 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19146536 19146537 rs187421083 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19146557 19146558 rs140740364 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19146607 19146608 rs557291165 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19146645 19146646 rs575586448 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19146681 19146682 rs57188498 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 unknown exact 1 4 1000GENOMES,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4882.000000,126.000000, 0.974840,0.025160, maf-5-some-pop 731 chr21 19146682 19146683 rs191553520 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19146690 19146691 rs147906947 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19146756 19146757 rs184034478 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19146757 19146758 rs767569781 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19146808 19146809 rs148522996 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19146887 19146888 rs112450481 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 3 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19146897 19146898 rs571822603 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19146930 19146931 rs577094664 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19146953 19146954 rs765123133 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19146966 19146966 rs140071064 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.406641 0.194842 unknown between 1 11 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,T, 3586.000000,1422.000000, 0.716054,0.283946, maf-5-some-pop,maf-5-all-pops 731 chr21 19146973 19146974 rs369580469 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19147068 19147069 rs142167349 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 unknown exact 1 3 1000GENOMES,EVA_GENOME_DK,SSMP, 2 C,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 731 chr21 19147069 19147070 rs774007083 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19147081 19147082 rs530469128 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19147085 19147086 rs542697232 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19147122 19147123 rs560922269 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19147127 19147130 rs573523629 0 + GGA GGA -/GGA genomic deletion by-cluster 0 0 unknown range 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147130 19147131 rs188671267 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19147135 19147136 rs151206884 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19147177 19147178 rs571479565 0 + G G G/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 G,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19147205 19147206 rs771642924 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19147234 19147235 rs532423666 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19147247 19147248 rs113406142 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 54.000000,4954.000000, 0.010783,0.989217, 731 chr21 19147321 19147322 rs758390648 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147384 19147385 rs766365109 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147393 19147394 rs750965535 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147445 19147446 rs372897680 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP, 2 G,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19147451 19147452 rs536292454 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19147465 19147466 rs554554025 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19147466 19147467 rs145593385 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 731 chr21 19147518 19147519 rs759194476 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 731 chr21 19147549 19147552 rs753690151 0 + GAG GAG -/GAG genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 731 chr21 19147559 19147560 rs534048859 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19147599 19147600 rs192229916 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19147603 19147604 rs780621152 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147613 19147614 rs577050381 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19147644 19147645 rs747789931 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147661 19147662 rs544886687 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19147724 19147725 rs755803816 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147726 19147727 rs778088466 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147740 19147741 rs556622786 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19147743 19147744 rs556031882 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147749 19147750 rs575086424 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19147760 19147761 rs774928147 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147762 19147763 rs376137236 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19147779 19147780 rs542209008 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19147802 19147803 rs560887457 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19147810 19147810 rs35119555 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19147814 19147815 rs528157235 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19147845 19147846 rs184664222 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19147897 19147898 rs772179813 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147930 19147931 rs565054213 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19147972 19147973 rs775499422 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19147998 19147999 rs760952973 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148024 19148025 rs764462828 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 731 chr21 19148027 19148028 rs544619474 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19148045 19148046 rs564169889 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148055 19148056 rs867071639 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19148062 19148063 rs766168745 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148078 19148079 rs146510258 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19148129 19148130 rs751498565 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148132 19148133 rs759455296 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148169 19148170 rs550844377 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148174 19148175 rs751744399 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19148187 19148188 rs140816670 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 731 chr21 19148189 19148190 rs767018998 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148196 19148197 rs6417700 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.314301 0.241589 unknown exact 1 18 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4030.000000,978.000000, 0.804712,0.195288, maf-5-some-pop,maf-5-all-pops 731 chr21 19148213 19148214 rs190347589 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148241 19148242 rs566543297 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19148242 19148243 rs373291020 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19148304 19148305 rs540368374 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19148321 19148322 rs552300312 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19148325 19148326 rs571013988 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148341 19148342 rs538013829 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19148377 19148378 rs144571870 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19148378 19148379 rs575002333 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19148413 19148414 rs373009067 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19148432 19148433 rs558477508 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19148460 19148461 rs138460903 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148462 19148463 rs572907408 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148482 19148483 rs182426918 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148493 19148494 rs752830007 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19148496 19148497 rs572265488 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19148526 19148527 rs565014935 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19148532 19148533 rs376286214 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19148544 19148545 rs6517789 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.441432 0.160792 unknown exact 1 20 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1647.000000,3361.000000, 0.328874,0.671126, maf-5-some-pop,genotype-conflict 731 chr21 19148566 19148567 rs529088834 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19148592 19148593 rs2824484 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.234692 0.249531 unknown exact 1 18 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 680.000000,4328.000000, 0.135783,0.864217, maf-5-some-pop 731 chr21 19148603 19148604 rs746381705 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148654 19148655 rs149284080 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 4986.000000,22.000000, 0.995607,0.004393, 731 chr21 19148656 19148657 rs780262828 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148660 19148661 rs747110811 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148668 19148669 rs185910684 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19148669 19148670 rs189158661 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19148748 19148749 rs181146379 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19148776 19148777 rs527720354 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148786 19148787 rs777003774 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148787 19148788 rs552161526 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148795 19148796 rs753402476 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 731 chr21 19148828 19148829 rs185646613 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19148854 19148855 rs762181900 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148869 19148870 rs191542622 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19148899 19148900 rs182568379 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19148930 19148931 rs756242090 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19148938 19148939 rs778579497 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19148943 19148944 rs143492479 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19148954 19148955 rs148149122 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 5 1000GENOMES,EVA_DECODE,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 48.000000,4960.000000, 0.009585,0.990415, 731 chr21 19148983 19148984 rs186258997 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19149014 19149015 rs774050554 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149025 19149026 rs572868778 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19149026 19149027 rs191831195 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149082 19149083 rs558528397 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149090 19149091 rs28409029 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.234401 0.249513 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 679.000000,4329.000000, 0.135583,0.864417, maf-5-some-pop 731 chr21 19149115 19149116 rs571303635 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19149132 19149133 rs112123542 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19149146 19149147 rs544310658 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149150 19149151 rs143968978 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 731 chr21 19149166 19149167 rs183349943 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19149177 19149178 rs574622346 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149178 19149179 rs767377311 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149238 19149239 rs752161358 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149241 19149242 rs367781833 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 1 SSMP, 0 731 chr21 19149244 19149245 rs367781385 0 + C C C/T genomic single by-cluster 0 0 near-gene-3 exact 1 2 JMKIDD_LAB,TISHKOFF, 0 731 chr21 19149248 19149249 rs760181285 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149252 19149252 rs750417790 0 + - - -/AAAAGCA genomic insertion by-cluster 0 0 near-gene-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149262 19149263 rs575372110 0 + A A A/G genomic single unknown 0 0 near-gene-3 exact 1 1 JMKIDD_LAB, 0 731 chr21 19149272 19149273 rs2824485 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.186105 0.241697 near-gene-3 exact 1 17 1000GENOMES,BCM_SSAHASNP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4488.000000,520.000000, 0.896166,0.103834, maf-5-some-pop 731 chr21 19149296 19149297 rs760305331 0 + T T G/T genomic single unknown 0 0 near-gene-3 exact 1 1 EVA_DECODE, 0 731 chr21 19149303 19149303 rs567559687 0 + - - -/ATGT/ATGTATGT genomic insertion by-cluster,by-frequency,by-1000genomes 0.01232 0.077674 near-gene-3 between 1 1 1000GENOMES, 3 -,ATGT,ATGTATGT, 4977.000000,10.000000,21.000000, 0.993810,0.001997,0.004193, 731 chr21 19149305 19149306 rs559974096 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149312 19149313 rs243582 0 - C C A/G genomic single unknown 0 0 near-gene-3 exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2542.000000,2466.000000, 0.507588,0.492412, maf-5-some-pop,maf-5-all-pops 731 chr21 19149313 19149314 rs773715956 0 + G G A/G genomic single unknown 0 0 near-gene-3 exact 1 1 EVA_DECODE, 0 731 chr21 19149322 19149323 rs368186046 0 + T T C/T genomic single unknown 0 0 near-gene-3 exact 1 1 SSMP, 0 731 chr21 19149345 19149346 rs756927593 0 + G G A/G genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149373 19149374 rs147067397 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.18325 0.240924 near-gene-3 exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,C, 511.000000,4497.000000, 0.102037,0.897963, maf-5-some-pop 731 chr21 19149378 19149379 rs79399681 0 + C C A/C genomic single unknown 0.5 0 near-gene-3 exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19149380 19149381 rs552122672 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149415 19149416 rs564519821 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149464 19149465 rs147331728 0 + A A A/C genomic single by-frequency,by-1000genomes 0.010725 0.072438 near-gene-3 exact 1 1 1000GENOMES, 2 A,C, 4981.000000,27.000000, 0.994609,0.005391, 731 chr21 19149476 19149477 rs187246638 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19149496 19149497 rs568560943 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19149543 19149544 rs779306541 0 + C C C/G genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149592 19149593 rs750807557 0 + A A A/G genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149603 19149604 rs758893296 0 + C C C/G genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149629 19149630 rs529555779 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19149632 19149633 rs541009637 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 2 1000GENOMES,SSIP, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19149658 19149659 rs2262266 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.232943 0.249417 near-gene-3 exact 1 16 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 4334.000000,674.000000, 0.865415,0.134585, maf-5-some-pop 731 chr21 19149716 19149717 rs76763573 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 near-gene-3 exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 126.000000,4882.000000, 0.025160,0.974840, maf-5-some-pop 731 chr21 19149717 19149718 rs569515050 0 + G G A/G genomic single unknown 0 0 near-gene-3 exact 1 1 EVA-GONL, 0 731 chr21 19149830 19149831 rs190430258 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 ncRNA exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19149839 19149839 rs746774838 0 + - - -/T genomic insertion by-cluster 0 0 ncRNA between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149854 19149855 rs140985027 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19149869 19149870 rs143006973 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19149915 19149916 rs368818161 0 + G G A/G genomic single unknown 0 0 ncRNA exact 1 1 SSMP, 0 731 chr21 19149939 19149940 rs867958295 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19149957 19149958 rs781485337 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19149965 19149966 rs56831053 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.06223 0.165053 intron exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4847.000000,161.000000, 0.967851,0.032149, maf-5-some-pop 731 chr21 19149975 19149976 rs372412384 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19149987 19149988 rs182975027 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150000 19150001 rs553572658 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150060 19150061 rs187004041 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150070 19150071 rs769954867 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150091 19150092 rs375800321 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150132 19150133 rs171477 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498852 0.023934 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2624.000000,2384.000000, 0.523962,0.476038, maf-5-some-pop,maf-5-all-pops 731 chr21 19150156 19150157 rs531775759 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19150161 19150162 rs759279821 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150165 19150166 rs372708542 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19150169 19150170 rs181704 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49907 0.021545 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2396.000000,2612.000000, 0.478435,0.521565, maf-5-some-pop,maf-5-all-pops,genotype-conflict 731 chr21 19150182 19150183 rs192154 0 - C C A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 3 KWOK,SC_JCM,TSC-CSHL, 1 G, 4.000000, 1.000000, 731 chr21 19150184 19150185 rs775418371 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150186 19150187 rs562174163 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19150191 19150192 rs529412424 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19150194 19150195 rs553859346 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150195 19150196 rs79928894 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 731 chr21 19150196 19150197 rs147444520 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19150221 19150222 rs533653878 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19150239 19150240 rs552080463 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150240 19150241 rs570342768 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19150245 19150246 rs776158609 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150263 19150264 rs761508639 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150272 19150273 rs560938970 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19150334 19150335 rs537806897 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150365 19150366 rs529742855 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 18.000000,4990.000000, 0.003594,0.996406, 731 chr21 19150368 19150369 rs567787006 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19150377 19150378 rs535189428 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150408 19150409 rs553532121 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19150411 19150412 rs571935372 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150443 19150444 rs139251252 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 731 chr21 19150502 19150503 rs542785191 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19150518 19150519 rs764823062 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150628 19150629 rs558075723 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150653 19150654 rs552248501 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19150667 19150668 rs192990870 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19150708 19150709 rs184139346 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,T, 4917.000000,91.000000, 0.981829,0.018171, 731 chr21 19150714 19150715 rs562089224 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150715 19150716 rs28378807 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSAHASNP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19150728 19150730 rs774440990 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 DuplicateObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 731 chr21 19150728 19150728 rs141843431 0 + - - -/TA genomic insertion by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 intron between 1 DuplicateObserved 3 1000GENOMES,DDI,LUNTER, 2 -,TA, 4765.000000,243.000000, 0.951478,0.048522, maf-5-some-pop 731 chr21 19150730 19150730 rs768592911 0 + - - -/TA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150735 19150736 rs764095416 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19150742 19150743 rs541573408 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19150762 19150763 rs531624332 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19150780 19150781 rs766906079 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150786 19150787 rs559965215 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19150802 19150803 rs243583 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.497959 0.031884 intron exact 1 MixedObserved 19 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,KWOK,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 2664.000000,2344.000000, 0.531949,0.468051, maf-5-some-pop,maf-5-all-pops 731 chr21 19150802 19150803 rs377520331 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 LUNTER, 0 731 chr21 19150810 19150811 rs192155 0 - T T A/G genomic single unknown 0 0 intron exact 1 1 KWOK, 0 731 chr21 19150811 19150811 rs747693721 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150813 19150813 rs374287914 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.085456 0.188216 intron between 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,LUNTER,SSIP, 2 -,T, 4784.000000,224.000000, 0.955272,0.044728, maf-5-some-pop 731 chr21 19150844 19150845 rs551690927 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19150845 19150846 rs563958932 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19150892 19150893 rs755579270 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150962 19150963 rs184974739 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19150967 19150968 rs748199425 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19150993 19150994 rs150019153 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4905.000000,103.000000, 0.979433,0.020567, maf-5-some-pop 731 chr21 19150995 19150996 rs567749687 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19150996 19150997 rs535152995 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19151068 19151069 rs756318516 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151163 19151164 rs145236768 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19151166 19151166 rs769320963 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151182 19151183 rs565527221 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19151190 19151191 rs777861032 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151199 19151200 rs745616942 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151206 19151207 rs189603850 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19151242 19151243 rs543528271 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19151258 19151267 rs372713376 0 + TAATAATTA TAATAATTA -/TAATAATTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron range 1 2 1000GENOMES,LUNTER, 2 -,TAATAATTA, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19151291 19151291 rs58242684 0 + - - -/TA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 731 chr21 19151304 19151305 rs181534271 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19151367 19151368 rs765258952 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 731 chr21 19151377 19151378 rs527289658 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19151386 19151387 rs775332549 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151391 19151392 rs746919438 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151405 19151406 rs555783366 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19151438 19151439 rs574111684 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19151464 19151464 rs565196746 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 731 chr21 19151471 19151472 rs541534981 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19151506 19151507 rs559843907 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19151508 19151509 rs768629913 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151519 19151520 rs578034423 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19151529 19151530 rs184718564 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19151552 19151553 rs189541174 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19151564 19151565 rs568965135 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19151565 19151566 rs243584 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.34146 0.23267 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1094.000000,3914.000000, 0.218450,0.781550, maf-5-some-pop 731 chr21 19151608 19151609 rs778757765 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19151624 19151625 rs144080592 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19151642 19151643 rs561341368 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19151652 19151653 rs528895996 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19151739 19151740 rs764880632 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151745 19151746 rs772756512 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151759 19151760 rs762732196 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151766 19151767 rs766816433 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151773 19151774 rs547000867 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19151785 19151789 rs750617739 0 + TTTG TTTG -/TTTG genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 731 chr21 19151804 19151805 rs752014799 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151813 19151814 rs371456401 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19151819 19151820 rs565391007 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19151881 19151882 rs745709579 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19151930 19151931 rs114522173 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4951.000000,57.000000, 0.988618,0.011382, 731 chr21 19151931 19151932 rs768168184 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151939 19151940 rs243585 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.35894 0.225016 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 3834.000000,1174.000000, 0.765575,0.234425, maf-5-some-pop 731 chr21 19151940 19151941 rs756159459 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19151943 19151944 rs77391951 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 109.000000,4899.000000, 0.021765,0.978235, maf-5-some-pop 731 chr21 19151989 19151990 rs141067201 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 40.000000,4968.000000, 0.007987,0.992013, 731 chr21 19152012 19152013 rs749468016 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152055 19152056 rs757512209 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152062 19152063 rs73206344 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19152100 19152101 rs574075076 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152101 19152102 rs534968893 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152106 19152107 rs553424184 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19152113 19152114 rs144880820 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152176 19152177 rs545204949 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152186 19152187 rs569393828 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19152198 19152199 rs746833464 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152205 19152206 rs553641378 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19152208 19152209 rs113884255 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4930.000000,78.000000, 0.984425,0.015575, 731 chr21 19152244 19152245 rs776440858 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152269 19152270 rs185779106 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19152277 19152283 rs763533365 0 + ACAAGT ACAAGT -/ACAAGT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152285 19152286 rs151154240 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19152292 19152293 rs140075932 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19152294 19152295 rs561204441 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152316 19152317 rs528766193 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152322 19152323 rs540597744 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152330 19152331 rs747638724 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152372 19152373 rs199611369 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19152405 19152406 rs768150128 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19152437 19152438 rs533031245 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152450 19152451 rs191078553 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152469 19152470 rs551216510 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19152495 19152496 rs569830967 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152533 19152534 rs530659462 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19152553 19152554 rs772816940 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152555 19152556 rs549201275 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19152556 19152557 rs567537518 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152604 19152605 rs534932071 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152631 19152632 rs560823876 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 -,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19152634 19152637 rs771279840 0 + TGA TGA -/TGA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152658 19152659 rs553387288 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19152696 19152697 rs13048115 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 11 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19152708 19152709 rs539116375 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152739 19152740 rs137967291 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 43.000000,4965.000000, 0.008586,0.991414, 731 chr21 19152770 19152771 rs575701077 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19152836 19152837 rs771398434 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19152855 19152856 rs563339543 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152864 19152865 rs186164884 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152886 19152887 rs191069492 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19152908 19152909 rs117557135 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19152910 19152911 rs559280591 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19152916 19152917 rs759984094 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152934 19152935 rs774674032 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19152938 19152939 rs144008667 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 14.000000,4994.000000, 0.002796,0.997204, 731 chr21 19152954 19152955 rs753129421 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19152976 19152977 rs371428026 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19152983 19152984 rs545079945 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153011 19153012 rs182853561 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19153023 19153025 rs546544494 0 + AG AG -/AG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AG, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19153036 19153037 rs767899530 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19153055 19153056 rs563196687 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19153057 19153058 rs530643404 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153061 19153062 rs549164289 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19153063 19153064 rs567502929 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19153086 19153087 rs79078336 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19153092 19153093 rs188694643 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19153102 19153103 rs139351201 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 731 chr21 19153163 19153164 rs532268634 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19153192 19153193 rs538613326 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153193 19153194 rs557325321 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19153211 19153212 rs542793802 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19153239 19153240 rs556319187 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19153243 19153244 rs761312521 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153273 19153274 rs569227154 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153282 19153283 rs536364892 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153305 19153306 rs554729788 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153349 19153350 rs573129444 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19153357 19153358 rs868596174 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19153358 19153359 rs754000261 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153363 19153364 rs2824487 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.098443 0.198823 intron exact 1 12 1000GENOMES,AFFY,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4748.000000,260.000000, 0.948083,0.051917, maf-5-some-pop 731 chr21 19153394 19153395 rs190992123 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19153398 19153399 rs143362181 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153399 19153400 rs544649699 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153433 19153433 rs143910716 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.047915 0.147179 intron between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,C, 4885.000000,123.000000, 0.975439,0.024561, maf-5-some-pop 731 chr21 19153435 19153436 rs563310538 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19153440 19153441 rs775633011 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19153447 19153448 rs144832404 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19153503 19153504 rs779141497 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153530 19153531 rs751293473 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153540 19153541 rs243586 0 - T T A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.227782 0.250089 intron exact 1 SingleClassTriAllelic 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,G, 647.000000,8.000000,4353.000000, 0.129193,0.001597,0.869209, maf-5-some-pop,maf-5-all-pops 731 chr21 19153563 19153564 rs781101895 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153587 19153588 rs748001342 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153625 19153626 rs565191687 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153628 19153629 rs117872498 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19153638 19153639 rs546781154 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19153678 19153679 rs748835597 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153698 19153699 rs541008244 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19153742 19153743 rs12483710 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.137187 0.223099 intron exact 1 13 1000GENOMES,ABI,BGI,BL,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4637.000000,371.000000, 0.925919,0.074082, maf-5-some-pop 731 chr21 19153751 19153751 rs10626670 0 + - - -/CAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.482459 0.091993 intron between 1 13 1000GENOMES,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,CAA, 2973.000000,2035.000000, 0.593650,0.406350, maf-5-some-pop,maf-5-all-pops 731 chr21 19153752 19153752 rs34309393 0 + - - -/AAC genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 731 chr21 19153755 19153756 rs368581685 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 731 chr21 19153755 19153755 rs397741381 0 + - - -/AAC genomic insertion by-cluster 0 0 intron between 1 MixedObserved 3 ABI,GMI,HGSV, 0 731 chr21 19153756 19153757 rs371155558 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 731 chr21 19153757 19153758 rs374884676 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 731 chr21 19153775 19153776 rs532460437 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153784 19153785 rs183357114 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153817 19153818 rs867965978 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19153820 19153821 rs9976113 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.393434 0.20476 intron exact 1 19 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 1348.000000,3660.000000, 0.269169,0.730831, maf-5-some-pop 731 chr21 19153821 19153822 rs774159965 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19153837 19153838 rs4818382 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.393434 0.20476 intron exact 1 22 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1348.000000,3660.000000, 0.269169,0.730831, maf-5-some-pop 731 chr21 19153880 19153880 rs34606616 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19153889 19153890 rs548322046 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19153892 19153893 rs78207065 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,GMI, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19153931 19153932 rs574583613 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19153936 19153937 rs867583690 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19154042 19154043 rs381863 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SC_JCM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 731 chr21 19154080 19154080 rs764291241 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19154094 19154095 rs775964810 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19154108 19154109 rs368456545 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19154117 19154118 rs372705698 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19154118 19154119 rs538564082 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154135 19154136 rs78636152 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 43.000000,4965.000000, 0.008586,0.991414, 731 chr21 19154139 19154140 rs551624996 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19154143 19154144 rs575357379 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154175 19154176 rs148094985 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19154202 19154202 rs554146575 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19154209 19154210 rs74414338 0 + T T A/T genomic single by-frequency,by-1000genomes 0.051326 0.151752 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,T, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 731 chr21 19154283 19154284 rs572975962 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19154313 19154316 rs746602027 0 + ATG ATG -/ATG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19154399 19154400 rs540022967 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154416 19154417 rs243587 0 - A A A/G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.559659 0.106647 intron exact 1 SingleClassTriAllelic 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 A,G,T, 347.000000,2156.000000,2505.000000, 0.069289,0.430511,0.500200, maf-5-some-pop,maf-5-all-pops,genotype-conflict 731 chr21 19154504 19154505 rs550882868 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154512 19154513 rs753878441 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19154524 19154525 rs562542623 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19154533 19154534 rs113064744 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 C,T, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 731 chr21 19154552 19154553 rs761890259 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19154565 19154566 rs243588 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499996 0.001398 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2497.000000,2511.000000, 0.498602,0.501398, maf-5-some-pop,maf-5-all-pops,genotype-conflict 731 chr21 19154571 19154572 rs141826828 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19154579 19154580 rs552187035 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19154667 19154668 rs771435845 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19154751 19154752 rs78862291 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 731 chr21 19154792 19154793 rs552478530 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154807 19154808 rs571052612 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154808 19154809 rs774800513 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19154835 19154836 rs758656708 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19154838 19154839 rs538153907 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154854 19154855 rs150645894 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19154858 19154859 rs243589 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499999 0.000799 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2500.000000,2508.000000, 0.499201,0.500799, maf-5-some-pop,maf-5-all-pops 731 chr21 19154875 19154876 rs369391582 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19154901 19154902 rs536205475 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19154930 19154934 rs758428067 0 + GAGC GAGC -/GAGC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19154946 19154947 rs752555270 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155045 19155046 rs34594232 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 731 chr21 19155062 19155063 rs554624615 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19155062 19155063 rs567600171 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155070 19155071 rs75421386 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19155086 19155087 rs540359130 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19155139 19155140 rs536701664 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155140 19155141 rs113444222 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19155209 19155210 rs748749788 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155217 19155218 rs417463 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499933 0.00579 intron exact 1 MixedObserved 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2533.000000,2475.000000, 0.505791,0.494209, maf-5-some-pop,maf-5-all-pops 731 chr21 19155217 19155217 rs200343911 0 + - - -/AA genomic insertion by-1000genomes 0 0 intron between 1 MixedObserved 1 1000GENOMES, 0 731 chr21 19155220 19155221 rs417462 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499974 0.003594 intron exact 1 22 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2522.000000,2486.000000, 0.503594,0.496406, maf-5-some-pop,maf-5-all-pops 731 chr21 19155223 19155224 rs745485868 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155250 19155251 rs562403023 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19155270 19155271 rs111800314 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 84.000000,4924.000000, 0.016773,0.983227, 731 chr21 19155329 19155330 rs558818241 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19155351 19155352 rs541794087 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19155406 19155407 rs193153654 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 731 chr21 19155422 19155423 rs560148280 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19155437 19155438 rs776744168 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19155534 19155535 rs139734940 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19155550 19155551 rs775668806 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155577 19155578 rs572356753 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155580 19155581 rs527762090 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19155610 19155611 rs768982305 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155672 19155673 rs377733891 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19155675 19155676 rs750002493 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 731 chr21 19155699 19155700 rs777139815 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155782 19155783 rs243590 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.499984 0.002795 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2490.000000,2518.000000, 0.497204,0.502796, maf-5-some-pop,maf-5-all-pops 731 chr21 19155805 19155806 rs243591 0 - A A G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499994 0.001797 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2495.000000,2513.000000, 0.498203,0.501797, maf-5-some-pop,maf-5-all-pops 731 chr21 19155817 19155818 rs531889812 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19155829 19155830 rs111963476 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19155839 19155840 rs568739877 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19155859 19155859 rs754695956 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155882 19155883 rs536170198 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19155894 19155895 rs763034487 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155896 19155897 rs117033538 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19155952 19155953 rs566493476 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19155955 19155956 rs766651335 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19155966 19155967 rs183898679 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19155967 19155968 rs79773678 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19156014 19156015 rs187890407 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156021 19156022 rs755949965 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156043 19156044 rs369617193 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19156058 19156059 rs370680664 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19156060 19156063 rs574353250 0 + CTC CTC -/CTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,CTC, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19156076 19156077 rs555962954 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156087 19156088 rs764037737 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156109 19156110 rs243592 0 - C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499961 0.004393 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 2482.000000,2526.000000, 0.495607,0.504393, maf-5-some-pop,maf-5-all-pops 731 chr21 19156119 19156120 rs2824488 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.404209 0.196773 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3600.000000,1408.000000, 0.718850,0.281150, maf-5-some-pop,maf-5-all-pops 731 chr21 19156131 19156132 rs146014289 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156132 19156133 rs139914677 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19156138 19156139 rs745395396 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156139 19156140 rs757948806 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156170 19156171 rs575251101 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19156220 19156221 rs779762155 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156221 19156222 rs243593 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499218 0.019753 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2603.000000,2405.000000, 0.519768,0.480232, maf-5-some-pop,maf-5-all-pops 731 chr21 19156230 19156231 rs564554498 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19156257 19156258 rs78063321 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4965.000000,43.000000, 0.991414,0.008586, 731 chr21 19156264 19156265 rs77015128 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 731 chr21 19156465 19156466 rs777049773 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156478 19156479 rs114792797 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4969.000000,39.000000, 0.992212,0.007788, maf-5-some-pop 731 chr21 19156484 19156485 rs529591400 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19156507 19156508 rs548159173 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156508 19156509 rs566337345 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156538 19156539 rs143516722 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19156555 19156556 rs748628459 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156556 19156557 rs527975038 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156574 19156575 rs374407318 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19156587 19156588 rs368629778 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19156597 19156598 rs118092019 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 4943.000000,65.000000, 0.987021,0.012979, maf-5-some-pop 731 chr21 19156601 19156602 rs243594 0 - A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499994 0.001797 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2495.000000,2513.000000, 0.498203,0.501797, maf-5-some-pop,maf-5-all-pops 731 chr21 19156620 19156621 rs773231528 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156629 19156630 rs243595 0 - G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499989 0.002396 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 2516.000000,2492.000000, 0.502396,0.497604, maf-5-some-pop,maf-5-all-pops 731 chr21 19156658 19156659 rs184698132 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 731 chr21 19156676 19156677 rs535351150 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156693 19156694 rs766452215 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156718 19156719 rs774619311 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156794 19156795 rs553990363 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19156815 19156816 rs145605742 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19156828 19156829 rs117462472 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19156838 19156839 rs562435093 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19156847 19156848 rs763949458 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156853 19156854 rs576594017 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19156854 19156855 rs243596 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.47726 0.104176 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3038.000000,1970.000000, 0.606629,0.393371, maf-5-some-pop,maf-5-all-pops,genotype-conflict 731 chr21 19156887 19156888 rs76337076 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19156898 19156899 rs529552047 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19156900 19156905 rs769375747 0 + AAGTA AAGTA -/AAGTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19156965 19156966 rs548020222 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19156979 19156980 rs867000136 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19156988 19156989 rs2824489 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463343 0.130326 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 1826.000000,3182.000000, 0.364617,0.635383, maf-5-some-pop,maf-5-all-pops 731 chr21 19156994 19156995 rs79599406 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 731 chr21 19157011 19157012 rs533481315 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19157033 19157035 rs777274362 0 + CA CA -/CA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19157070 19157071 rs552118983 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19157101 19157102 rs570380458 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19157102 19157103 rs192669954 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19157140 19157141 rs381462 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SC_JCM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 731 chr21 19157141 19157142 rs549503732 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19157167 19157168 rs551909894 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 731 chr21 19157228 19157229 rs80180385 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4895.000000,113.000000, 0.977436,0.022564, maf-5-some-pop 731 chr21 19157230 19157231 rs368147137 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19157234 19157235 rs553705792 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19157254 19157255 rs571787516 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19157271 19157272 rs754668790 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19157311 19157312 rs142011682 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19157341 19157342 rs184387301 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19157355 19157356 rs190264206 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19157374 19157375 rs11088653 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.172997 0.237846 intron exact 1 21 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 479.000000,4529.000000, 0.095647,0.904353, maf-5-some-pop 731 chr21 19157379 19157380 rs9974456 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.463234 0.130503 intron exact 1 19 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1825.000000,3183.000000, 0.364417,0.635583, maf-5-some-pop,maf-5-all-pops 731 chr21 19157414 19157415 rs4818383 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.46865 0.121211 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1877.000000,3131.000000, 0.374800,0.625200, maf-5-some-pop,maf-5-all-pops 731 chr21 19157471 19157472 rs866185960 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19157475 19157476 rs778262437 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19157557 19157558 rs574186853 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19157567 19157568 rs534871248 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19157578 19157579 rs75150793 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 39.000000,4969.000000, 0.007788,0.992212, maf-5-some-pop 731 chr21 19157589 19157590 rs559715467 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19157595 19157596 rs533663687 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19157627 19157628 rs867646323 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19157651 19157652 rs181140252 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19157735 19157736 rs184815304 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19157750 19157752 rs574324680 0 + AA AA -/AA genomic deletion by-frequency,by-1000genomes 0.008747 0.065553 intron range 1 1 1000GENOMES, 2 -,AA, 22.000000,4986.000000, 0.004393,0.995607, 731 chr21 19157751 19157753 rs377201060 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 731 chr21 19157815 19157816 rs189687957 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19157875 19157876 rs769924572 0 + T T C/T genomic single unknown 0 0 intron,ncRNA exact 1 1 EVA_DECODE, 0 731 chr21 19157878 19157879 rs549365566 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron,ncRNA exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19157888 19157889 rs552460338 0 + G G A/G genomic single unknown 0 0 intron,ncRNA exact 1 1 JMKIDD_LAB, 0 731 chr21 19157897 19157898 rs749815518 0 + G G C/G genomic single unknown 0 0 intron,ncRNA exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19157937 19157938 rs567787065 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19157948 19157949 rs187838106 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 731 chr21 19157962 19157963 rs535189882 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19158035 19158036 rs374690531 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19158036 19158037 rs565763401 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19158038 19158039 rs243597 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499954 0.004792 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 2528.000000,2480.000000, 0.504792,0.495208, maf-5-some-pop,maf-5-all-pops,genotype-conflict 731 chr21 19158039 19158040 rs369012639 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19158056 19158057 rs774334635 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158064 19158065 rs759781304 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158091 19158092 rs373249689 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19158108 19158109 rs772446915 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158130 19158131 rs145866187 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19158144 19158145 rs139284536 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 G,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19158179 19158180 rs141730015 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19158211 19158212 rs574150345 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19158216 19158217 rs180820728 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19158245 19158246 rs560177565 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19158271 19158272 rs776527359 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158324 19158325 rs538235064 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19158336 19158337 rs185224841 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19158344 19158345 rs761707664 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158376 19158377 rs765208956 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158402 19158403 rs190729903 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19158412 19158413 rs545591344 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19158422 19158423 rs114105199 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4897.000000,111.000000, 0.977835,0.022164, maf-5-some-pop 731 chr21 19158423 19158424 rs543074012 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19158427 19158428 rs568526022 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19158430 19158431 rs765885434 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158438 19158439 rs531132093 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19158558 19158559 rs751335351 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19158581 19158582 rs563324852 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19158598 19158599 rs370927514 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19158605 19158606 rs243598 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.396694 0.202437 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,ILLUMINA,KWOK,PJP,SC_JCM,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3.000000,8.000000, 0.272727,0.727273, maf-5-some-pop,maf-5-all-pops 731 chr21 19158609 19158610 rs71329774 0 + T T -/T genomic deletion unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19158613 19158613 rs148510808 0 + - - -/TC/TCTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.214239 0.247429 intron between 1 InconsistentAlleles 7 1000GENOMES,BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,TCTC, 4397.000000,611.000000, 0.877995,0.122005, maf-5-some-pop 731 chr21 19158617 19158617 rs772595996 0 + - - -/TCTCT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158618 19158619 rs618417 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 7 BGI,BUSHMAN,GMI,ILLUMINA,SC_JCM,SSAHASNP,WEILL_CORNELL_DGM, 1 C, 1.000000, 1.000000, 731 chr21 19158618 19158621 rs796224996 0 + TTT TTT CTC/TTT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 731 chr21 19158618 19158618 rs35065784 0 + - - -/C/CTC/CTCTC genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 6 ABI,BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI, 1 CTC, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 731 chr21 19158619 19158620 rs112916405 0 + T T C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 C, 1.000000, 1.000000, 731 chr21 19158619 19158619 rs369335105 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19158620 19158621 rs13047173 0 + T T C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 3 BUSHMAN,GMI,SSAHASNP, 1 C, 1.000000, 1.000000, 731 chr21 19158632 19158632 rs34725430 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 731 chr21 19158640 19158640 rs397867124 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19158725 19158726 rs113406685 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4917.000000,91.000000, 0.981829,0.018171, maf-5-some-pop 731 chr21 19158735 19158736 rs528959163 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19158743 19158744 rs374226510 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19158765 19158766 rs375223357 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19158790 19158791 rs369598120 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19158816 19158818 rs531704778 0 + AC AC -/AC genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AC, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19158828 19158829 rs754580996 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158833 19158834 rs867825769 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19158834 19158835 rs780824524 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158874 19158875 rs4818384 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.453939 0.144598 intron exact 1 19 1000GENOMES,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3264.000000,1744.000000, 0.651757,0.348243, maf-5-some-pop,maf-5-all-pops 731 chr21 19158875 19158876 rs114319643 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.026488 0.112576 intron exact 1 SingleClassTriAllelic 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 3 A,G,T, 30.000000,4941.000000,37.000000, 0.005990,0.986621,0.007388, 731 chr21 19158883 19158884 rs537360994 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19158893 19158894 rs555785360 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19158898 19158899 rs567693703 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19158912 19158913 rs73315619 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.056983 0.158885 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4861.000000,147.000000, 0.970647,0.029353, maf-5-some-pop 731 chr21 19158918 19158919 rs369800804 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19158949 19158951 rs776827961 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158979 19158980 rs749771021 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19158999 19159000 rs553150147 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159087 19159088 rs2824490 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.369346 0.219673 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3784.000000,1224.000000, 0.755591,0.244409, maf-5-some-pop,maf-5-all-pops 731 chr21 19159095 19159096 rs150489380 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19159100 19159101 rs561443761 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19159117 19159118 rs557148405 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159142 19159143 rs2824491 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,WEILL_CORNELL_DGM, 2 G,T, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 731 chr21 19159146 19159147 rs181886567 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19159153 19159154 rs186636242 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19159185 19159186 rs367551101 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159222 19159223 rs191940304 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19159231 19159232 rs138310546 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19159252 19159253 rs533070039 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159253 19159254 rs551570894 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19159304 19159305 rs183578057 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159349 19159350 rs556502166 0 + G G A/G genomic single unknown 0 0 ncRNA exact 1 1 JMKIDD_LAB, 0 731 chr21 19159378 19159379 rs772356059 0 + T T G/T genomic single unknown 0 0 ncRNA exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19159418 19159419 rs7282862 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.123798 0.215808 ncRNA exact 1 17 1000GENOMES,BCM_SSAHASNP,BGI,BL,CORNELL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 332.000000,4676.000000, 0.066294,0.933706, maf-5-some-pop 731 chr21 19159441 19159442 rs374486273 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 ncRNA exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159446 19159447 rs567573834 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159448 19159449 rs761039461 0 + C C C/T genomic single unknown 0 0 ncRNA exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19159473 19159474 rs61733831 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 ncRNA exact 1 5 1000GENOMES,CORNELL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,G, 4886.000000,122.000000, 0.975639,0.024361, maf-5-some-pop 731 chr21 19159477 19159478 rs186427409 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19159488 19159489 rs2276215 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.007559 0.061011 ncRNA exact 1 7 1000GENOMES,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM,YUSUKE, 2 A,T, 19.000000,4989.000000, 0.003794,0.996206, 731 chr21 19159503 19159504 rs772924040 0 + G G C/G genomic single unknown 0 0 ncRNA exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19159522 19159523 rs243599 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.498009 0.031487 ncRNA exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 2662.000000,2346.000000, 0.531550,0.468450, maf-5-some-pop,maf-5-all-pops 731 chr21 19159533 19159534 rs76244316 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4964.000000,44.000000, 0.991214,0.008786, 731 chr21 19159544 19159545 rs780387956 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19159550 19159551 rs575478387 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159610 19159611 rs536539830 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159631 19159632 rs144199860 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19159693 19159694 rs243600 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.497984 0.031685 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 2663.000000,2345.000000, 0.531749,0.468251, maf-5-some-pop,maf-5-all-pops 731 chr21 19159724 19159725 rs751010959 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19159733 19159734 rs117165002 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 4943.000000,65.000000, 0.987021,0.012979, maf-5-some-pop 731 chr21 19159735 19159736 rs559318934 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19159753 19159754 rs372630972 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19159760 19159761 rs138811462 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19159764 19159765 rs76708078 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 intron exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4852.000000,156.000000, 0.968850,0.031150, maf-5-some-pop 731 chr21 19159765 19159766 rs243601 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498009 0.031487 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 2346.000000,2662.000000, 0.468450,0.531550, maf-5-some-pop,maf-5-all-pops 731 chr21 19159767 19159768 rs866626697 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19159783 19159784 rs530681566 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159801 19159802 rs549201128 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19159802 19159803 rs748373698 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19159805 19159805 rs3831436 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.498009 0.031487 intron between 1 18 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF,YUSUKE, 2 -,G, 2346.000000,2662.000000, 0.468450,0.531550, maf-5-some-pop,maf-5-all-pops 731 chr21 19159806 19159806 rs869061721 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 731 chr21 19159819 19159820 rs560994523 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19159826 19159827 rs368403336 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19159829 19159830 rs546661246 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159845 19159846 rs568242904 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19159926 19159927 rs142082201 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19159977 19159978 rs868811695 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19160004 19160005 rs755801772 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160011 19160012 rs116041108 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.071153 0.174681 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4823.000000,185.000000, 0.963059,0.036941, maf-5-some-pop 731 chr21 19160043 19160044 rs73206366 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 731 chr21 19160050 19160051 rs569020774 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19160052 19160053 rs73206369 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19160059 19160060 rs556534239 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19160061 19160062 rs757743137 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160065 19160066 rs527983225 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19160072 19160073 rs779293258 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160087 19160088 rs190436358 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19160088 19160089 rs73206372 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19160098 19160099 rs146328953 0 + A A A/T genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 A,T, 4987.000000,21.000000, 0.995807,0.004193, 731 chr21 19160104 19160105 rs372604657 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19160123 19160124 rs73315622 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.056607 0.158427 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF, 2 A,G, 4862.000000,146.000000, 0.970847,0.029153, maf-5-some-pop 731 chr21 19160136 19160137 rs243602 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499992 0.001997 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2494.000000,2514.000000, 0.498003,0.501997, maf-5-some-pop,maf-5-all-pops 731 chr21 19160162 19160163 rs545118204 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19160216 19160217 rs182269963 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19160218 19160219 rs575429589 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19160238 19160239 rs796889379 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19160252 19160253 rs569523386 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19160253 19160254 rs113102286 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19160271 19160272 rs747204930 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160299 19160300 rs243603 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499992 0.001997 intron exact 1 MixedObserved 28 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2494.000000,2514.000000, 0.498003,0.501997, maf-5-some-pop,maf-5-all-pops 731 chr21 19160299 19160303 rs751480747 0 + TTTA TTTA -/TTTA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160351 19160352 rs561170498 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19160352 19160353 rs186830693 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19160354 19160355 rs150086054 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 2 1000GENOMES,LUNTER, 2 -,A, 44.000000,4964.000000, 0.008786,0.991214, 731 chr21 19160357 19160358 rs546918365 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19160384 19160385 rs192368788 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19160396 19160397 rs532334031 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19160410 19160411 rs541242543 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19160417 19160418 rs550565321 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19160448 19160448 rs367762757 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 731 chr21 19160456 19160457 rs561561825 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19160486 19160487 rs372890198 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19160527 19160528 rs770841116 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160558 19160559 rs8131419 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043809 0.141791 intron exact 1 SingleClassTriAllelic 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 3 A,C,T, 10.000000,4896.000000,102.000000, 0.001997,0.977636,0.020367, maf-5-some-pop,maf-5-all-pops 731 chr21 19160561 19160562 rs534265348 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19160567 19160568 rs370757167 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19160584 19160585 rs759535514 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160620 19160621 rs184153314 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19160623 19160624 rs567084452 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19160628 19160629 rs113018571 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19160629 19160630 rs766981329 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19160640 19160641 rs80193147 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19160641 19160642 rs534223457 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19160667 19160668 rs373307195 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19160703 19160704 rs559245786 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19160731 19160732 rs571162146 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19160742 19160743 rs538608379 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19160798 19160799 rs557008030 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19160810 19160811 rs575392200 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19160870 19160871 rs570615744 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19160901 19160902 rs201273996 0 - C C G/T genomic single by-cluster,by-frequency,by-1000genomes 0.372189 0.218105 intron exact 1 2 1000GENOMES,ILLUMINA, 2 G,T, 3770.000000,1238.000000, 0.752796,0.247204, maf-5-some-pop,maf-5-all-pops 731 chr21 19160902 19160902 rs113590775 0 + - - -/A/AA/AAAA genomic insertion by-cluster 0.5 0 intron between 1 InconsistentAlleles 4 BILGI_BIOE,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, rs-cluster-nonoverlapping-alleles 731 chr21 19160909 19160909 rs386394350 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 PJP, 0 731 chr21 19160912 19160912 rs373489811 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 BGI, 0 731 chr21 19160913 19160913 rs35796517 0 + - - -/A/AA genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 4 ABI,GMI,HGSV,HUMANGENOME_JCVI, 1 A, 2.000000, 1.000000, 731 chr21 19160958 19160959 rs1352602 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.470132 0.118498 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3116.000000,1892.000000, 0.622204,0.377796, maf-5-some-pop,maf-5-all-pops 731 chr21 19160961 19160962 rs243604 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499998 0.000998 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2499.000000,2509.000000, 0.499002,0.500998, maf-5-some-pop,maf-5-all-pops 731 chr21 19160977 19160977 rs201686011 0 + - - -/TGAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron between 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TGAT, 4976.000000,32.000000, 0.993610,0.006390, 731 chr21 19160981 19160981 rs61448777 0 + - - -/TGAT genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 731 chr21 19160991 19160992 rs188900735 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19161024 19161025 rs576261406 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19161058 19161059 rs193061047 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19161073 19161074 rs763778856 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19161085 19161086 rs185348308 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19161088 19161089 rs139933046 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19161119 19161120 rs243605 0 - G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499982 0.002995 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2489.000000,2519.000000, 0.497005,0.502995, maf-5-some-pop,maf-5-all-pops 731 chr21 19161121 19161122 rs548712847 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19161179 19161180 rs566945111 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19161199 19161200 rs77342480 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 731 chr21 19161205 19161206 rs757577122 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161252 19161253 rs751655716 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19161254 19161255 rs552517011 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19161289 19161290 rs552670419 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19161302 19161302 rs764761224 0 + - - -/TA genomic insertion unknown 0 0 intron,untranslated-3 between 1 1 SSMP, 0 731 chr21 19161385 19161386 rs571122723 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19161402 19161403 rs243606 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499984 0.002795 intron,untranslated-3 exact 1 MixedObserved 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,LEE,PERLEGEN,PJP,SC_JCM,SEQUENOM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 2518.000000,2490.000000, 0.502796,0.497204, maf-5-some-pop,maf-5-all-pops 731 chr21 19161402 19161403 rs756692374 0 + A A -/A genomic deletion by-cluster 0 0 intron,untranslated-3 exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161406 19161407 rs188504221 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron,untranslated-3 exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19161415 19161418 rs374371749 0 + AAT AAT -/AAT genomic deletion unknown 0 0 intron,cds-indel range 1 1 TISHKOFF, 0 731 chr21 19161451 19161452 rs117308041 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron,untranslated-3 exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19161476 19161478 rs139791820 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.172997 0.237846 intron,untranslated-3 range 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,AA, 479.000000,4529.000000, 0.095647,0.904353, maf-5-some-pop 731 chr21 19161477 19161479 rs869252233 0 + AA AA -/AA genomic deletion unknown 0 0 intron,untranslated-3 range 1 1 BGI, 0 731 chr21 19161483 19161484 rs568291332 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19161494 19161495 rs535955449 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19161514 19161515 rs243607 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499984 0.002795 intron,untranslated-3 exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,LEE,PERLEGEN,PJP,SC_JCM,SEQUENOM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 2518.000000,2490.000000, 0.502796,0.497204, maf-5-some-pop,maf-5-all-pops 731 chr21 19161540 19161541 rs191714663 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron,untranslated-3 exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 731 chr21 19161547 19161548 rs243608 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.211819 0.247067 intron,untranslated-3 exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,LEE,PJP,SC_JCM,SEQUENOM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4405.000000,603.000000, 0.879593,0.120407, maf-5-some-pop 731 chr21 19161570 19161571 rs652048 0 + C C A/C genomic single by-cluster,by-2hit-2allele 0.32 0.24 intron,untranslated-3 exact 1 MixedObserved 14 BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,GMI,HGSV,ILLUMINA,ILLUMINA-UK,SC_JCM,SSAHASNP,TSC-CSHL, 2 A,C, 4.000000,1.000000, 0.800000,0.200000, 731 chr21 19161570 19161579 rs76540643 0 + CACACACAC CACACACAC -/CACACACAC genomic deletion unknown 0 0 intron,cds-indel range 1 MixedObserved 1 BCMHGSC_JDW, 0 731 chr21 19161570 19161580 rs200398361 0 + CACACACACA CACACACACA -/CACACACACA genomic deletion by-cluster 0 0 intron,untranslated-3 range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 731 chr21 19161570 19161578 rs201183278 0 + CACACACA CACACACA -/CACACACA genomic deletion unknown 0 0 intron,untranslated-3 range 1 MixedObserved 1 GMI, 0 731 chr21 19161570 19161571 rs370142822 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.495708 0.046127 intron,untranslated-3 exact 1 MixedObserved 2 1000GENOMES,BILGI_BIOE, 2 -,C, 2736.000000,2272.000000, 0.546326,0.453674, maf-5-some-pop,maf-5-all-pops 731 chr21 19161570 19161577 rs570729402 0 + CACACAC CACACAC -/CACACAC genomic deletion unknown 0 0 intron,untranslated-3 range 1 MixedObserved 1 HGSV, 0 731 chr21 19161570 19161570 rs201696665 0 + - - -/AA/AACA/AACACA genomic insertion by-cluster 0 0 intron,untranslated-3 between 1 MixedObserved 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 0 rs-cluster-nonoverlapping-alleles 731 chr21 19161572 19161573 rs5842658 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.495708 0.046127 intron,untranslated-3 exact 1 MixedObserved 5 1000GENOMES,ABI,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,C, 2736.000000,2272.000000, 0.546326,0.453674, maf-5-some-pop,maf-5-all-pops 731 chr21 19161572 19161573 rs374408353 0 + C C A/C genomic single by-cluster 0 0 intron,untranslated-3 exact 1 MixedObserved 2 GMI,ILLUMINA, 0 731 chr21 19161572 19161581 rs769046556 0 + CACACACAC CACACACAC -/CACACACAC genomic deletion by-cluster 0 0 intron,cds-indel range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161578 19161579 rs60704809 0 + C C -/C genomic deletion unknown 0 0 intron,untranslated-3 exact 1 1 HGSV, 0 731 chr21 19161580 19161581 rs200680917 0 + C C A/C genomic single unknown 0 0 intron,untranslated-3 exact 1 1 GMI, 0 731 chr21 19161594 19161604 rs3835319 0 + CACACACACA CACACACACA -/CACACACACA genomic deletion unknown 0 0 intron,untranslated-3 range 1 1 YUSUKE, 0 731 chr21 19161598 19161599 rs866571156 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19161646 19161647 rs558489489 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19161663 19161664 rs747112506 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161664 19161665 rs547800929 0 + G G A/G genomic single by-cluster 0 0 intron,untranslated-3 exact 1 2 SSIP,WEILL_CORNELL_DGM, 0 731 chr21 19161688 19161689 rs243609 0 - C C A/C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499897 0.007188 intron,untranslated-3 exact 1 SingleClassQuadAllelic,InconsistentAlleles 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SEQUENOM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 2468.000000,2540.000000, 0.492812,0.507188, maf-5-some-pop,maf-5-all-pops,genotype-conflict,rs-cluster-nonoverlapping-alleles 731 chr21 19161689 19161690 rs539064772 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19161717 19161718 rs11550735 0 - A A A/T cDNA single unknown 0 0 intron,untranslated-3 exact 1 1 CGAP-GAI, 0 731 chr21 19161726 19161727 rs748458170 0 + C C C/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161727 19161728 rs552575117 0 + C C C/G genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19161742 19161743 rs770625606 0 + G G A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161754 19161755 rs572833566 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19161787 19161788 rs562542580 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19161819 19161820 rs756371099 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA_DECODE, 0 731 chr21 19161825 19161826 rs774169869 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161882 19161883 rs745781530 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161937 19161938 rs142151056 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19161961 19161962 rs772019346 0 + G G G/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19161982 19161983 rs150802066 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19162010 19162011 rs560604333 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19162104 19162105 rs527796159 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19162123 19162124 rs765252525 0 + T T -/T genomic deletion by-cluster 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162151 19162152 rs552719881 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19162177 19162178 rs769827073 0 + T T G/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA_GENOME_DK, 0 731 chr21 19162217 19162218 rs564695325 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19162221 19162222 rs774939847 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162242 19162243 rs78687264 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.117188 0.211804 intron,untranslated-3 exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4695.000000,313.000000, 0.937500,0.062500, maf-5-some-pop 731 chr21 19162256 19162257 rs139178269 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron,untranslated-3 exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4944.000000,64.000000, 0.987220,0.012780, 731 chr21 19162298 19162299 rs568778651 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19162310 19162311 rs149878382 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 3 1000GENOMES,GMI,ILLUMINA, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19162316 19162317 rs113073843 0 + T T C/T genomic single unknown 0.5 0 intron,untranslated-3 exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19162319 19162320 rs763745585 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162320 19162321 rs73892690 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron,untranslated-3 exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19162353 19162354 rs548618531 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 JMKIDD_LAB, 0 731 chr21 19162367 19162368 rs141948993 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron,untranslated-3 exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 731 chr21 19162372 19162373 rs183464464 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19162398 19162399 rs374824881 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 SSMP, 0 731 chr21 19162433 19162434 rs2276217 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02601 0.111035 intron,untranslated-3 exact 1 5 1000GENOMES,ILLUMINA,JMKIDD_LAB,SSMP,YUSUKE, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19162434 19162435 rs765490946 0 + T T G/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162438 19162439 rs372693288 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19162443 19162458 rs3216131 0 + AACCCACTTTATGGT AACCCACTTTATGGT -/AACCCACTTTATGGT genomic deletion unknown 0 0 intron,cds-indel range 1 1 YUSUKE, 0 731 chr21 19162454 19162455 rs188238960 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron,untranslated-3 exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162477 19162478 rs537742973 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19162603 19162604 rs763510025 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162606 19162607 rs574982808 0 + T T C/T genomic single by-cluster 0 0 intron,untranslated-3 exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162623 19162624 rs144337998 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 2 1000GENOMES,ILLUMINA, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19162644 19162645 rs147790978 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron,untranslated-3 exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 731 chr21 19162646 19162647 rs543719325 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19162657 19162658 rs563986814 0 + T T A/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19162698 19162702 rs577281797 0 + AAAG AAAG -/AAAG genomic deletion unknown 0 0 intron,untranslated-3 range 1 1 EVA-GONL, 0 731 chr21 19162722 19162723 rs181773685 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19162762 19162763 rs754997270 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162783 19162784 rs781395951 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162829 19162830 rs572477976 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19162841 19162842 rs752830548 0 + C C A/C genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162844 19162845 rs756406189 0 + T T A/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162868 19162869 rs113312629 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron,untranslated-3 exact 1 5 1000GENOMES,BUSHMAN,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 731 chr21 19162880 19162881 rs778630124 0 + G G C/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162925 19162926 rs143743468 0 + T T C/T genomic single by-1000genomes 0 0 intron,untranslated-3 exact 1 1 1000GENOMES, 0 731 chr21 19162926 19162927 rs564660491 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19162930 19162932 rs773280998 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron,untranslated-3 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162950 19162951 rs771931308 0 + A A A/G genomic single by-cluster 0 0 intron,untranslated-3 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19162984 19162985 rs187330202 0 + A A A/T genomic single by-1000genomes 0 0 intron,untranslated-3 exact 1 1 1000GENOMES, 0 731 chr21 19162990 19162991 rs151117375 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron,untranslated-3 exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19162995 19162996 rs112069599 0 + C C A/C genomic single unknown 0.5 0 intron,untranslated-3 exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19163074 19163075 rs550399561 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19163107 19163108 rs190502336 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19163112 19163113 rs181874699 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19163128 19163129 rs779979916 0 + C C C/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163149 19163150 rs747027804 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163164 19163165 rs186949293 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19163175 19163176 rs768048375 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163186 19163187 rs113857639 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron,untranslated-3 exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19163187 19163188 rs190091218 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron,untranslated-3 exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19163219 19163220 rs150268877 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron,untranslated-3 exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19163239 19163240 rs559821204 0 + T T C/T genomic single by-cluster 0 0 intron,untranslated-3 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163296 19163297 rs570223026 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19163308 19163309 rs182696647 0 + A A A/G genomic single by-1000genomes 0 0 intron,untranslated-3 exact 1 1 1000GENOMES, 0 731 chr21 19163341 19163342 rs537604802 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19163346 19163347 rs12626602 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02601 0.111035 intron,untranslated-3 exact 1 9 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,C, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19163360 19163361 rs766904330 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163365 19163366 rs752104748 0 + T T G/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163384 19163385 rs574657760 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19163390 19163395 rs200395877 0 + GAACT GAACT -/GAACT genomic deletion by-1000genomes 0 0 intron,untranslated-3 range 1 1 1000GENOMES, 0 731 chr21 19163391 19163396 rs79734932 0 + AACTC AACTC -/AACTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.379158 0.214052 intron,untranslated-3 range 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,AACTC, 1273.000000,3735.000000, 0.254193,0.745807, maf-5-some-pop 731 chr21 19163408 19163409 rs760126846 0 + G G A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163410 19163411 rs535410050 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19163434 19163435 rs138831786 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19163461 19163462 rs572388452 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19163507 19163508 rs546227299 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19163523 19163524 rs185213576 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19163527 19163528 rs562034538 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19163555 19163556 rs12626627 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02601 0.111035 intron,untranslated-3 exact 1 10 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,C, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19163560 19163561 rs189772349 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19163565 19163566 rs562302945 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19163582 19163583 rs182671004 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19163609 19163610 rs34742658 0 + T T -/T genomic deletion unknown 0 0 intron,untranslated-3 exact 1 1 ABI, 0 731 chr21 19163647 19163648 rs371044771 0 + A A A/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 SSMP, 0 731 chr21 19163655 19163656 rs763901623 0 + T T G/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA_DECODE, 0 731 chr21 19163664 19163665 rs373960060 0 + T T C/T genomic single by-cluster 0 0 intron,untranslated-3 exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19163675 19163676 rs541409403 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19163695 19163696 rs560085787 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19163706 19163707 rs7277763 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.47934 0.099515 intron,untranslated-3 exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3013.000000,1995.000000, 0.601637,0.398363, maf-5-some-pop,maf-5-all-pops 731 chr21 19163714 19163715 rs2824492 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.134119 0.221521 intron,untranslated-3 exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 362.000000,4646.000000, 0.072284,0.927716, maf-5-some-pop 731 chr21 19163748 19163749 rs375007585 0 + A A A/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 SSMP, 0 731 chr21 19163757 19163758 rs370428140 0 + T T G/T genomic single by-cluster 0 0 intron,untranslated-3 exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19163762 19163763 rs570186220 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19163802 19163803 rs2257906 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.381697 0.212499 intron,untranslated-3 exact 1 21 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 1286.000000,3722.000000, 0.256789,0.743211, maf-5-some-pop 731 chr21 19163804 19163805 rs2257907 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.479421 0.099328 intron,untranslated-3 exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1996.000000,3012.000000, 0.398562,0.601438, maf-5-some-pop,maf-5-all-pops 731 chr21 19163824 19163825 rs141931953 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19163838 19163839 rs367546040 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 -,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19163851 19163852 rs758176885 0 + T T A/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163894 19163895 rs577297402 0 + T T G/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 JMKIDD_LAB, 0 731 chr21 19163913 19163914 rs112809294 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron,untranslated-3 exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4925.000000,83.000000, 0.983427,0.016573, 731 chr21 19163921 19163922 rs867309114 0 + A A A/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 YSAMUELS, 0 731 chr21 19163931 19163932 rs796797511 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 HAMMER_LAB, 0 731 chr21 19163946 19163947 rs553742353 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19163947 19163948 rs746891449 0 + G G A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19163989 19163991 rs753286021 0 + AC AC -/AC genomic deletion unknown 0 0 intron,untranslated-3 range 1 1 EVA_DECODE, 0 731 chr21 19164007 19164008 rs752549559 0 + A A -/A genomic deletion by-cluster 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164021 19164022 rs539380773 0 + G G A/G genomic single by-cluster 0 0 intron,untranslated-3 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164031 19164031 rs34974587 0 + - - -/T genomic insertion unknown 0 0 intron,untranslated-3 between 1 1 ABI, 0 731 chr21 19164103 19164104 rs780522750 0 + A A A/C genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164138 19164139 rs747728070 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164154 19164155 rs565967734 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19164172 19164173 rs77876403 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron,untranslated-3 exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19164183 19164184 rs71319660 0 + A A A/C genomic single unknown 0.5 0 intron,untranslated-3 exact 1 1 HUMANGENOME_JCVI, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19164206 19164207 rs772982598 0 + G G C/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164218 19164219 rs558199172 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19164223 19164224 rs576595957 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19164230 19164231 rs543963101 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19164257 19164258 rs555925665 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19164266 19164267 rs574195664 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19164267 19164268 rs762758009 0 + G G C/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164286 19164287 rs541623918 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19164294 19164295 rs771389195 0 + C C A/C genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164339 19164340 rs546176853 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19164358 19164359 rs559751617 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19164368 19164369 rs774825890 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164403 19164404 rs759911047 0 + C C A/C genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164414 19164415 rs566510801 0 + C C C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19164417 19164418 rs144521489 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron,untranslated-3 exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19164470 19164471 rs111558194 0 + C C A/C genomic single by-cluster 0.5 0 intron,untranslated-3 exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19164486 19164487 rs189035196 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-3 exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19164514 19164515 rs760757919 0 + T T C/T genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164527 19164528 rs1062204 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.469049 0.120489 intron,untranslated-3 exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,LEE,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,YUSUKE, 2 C,G, 1881.000000,3127.000000, 0.375599,0.624401, maf-5-some-pop,maf-5-all-pops 731 chr21 19164541 19164542 rs112372955 0 + T T C/T genomic single by-cluster 0.5 0 intron,untranslated-3 exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19164559 19164560 rs754057131 0 + A A A/G genomic single by-cluster 0 0 intron,untranslated-3 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164573 19164574 rs367575002 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 1 SSMP, 0 731 chr21 19164574 19164575 rs148453950 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,untranslated-3 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19164575 19164576 rs141808150 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron,untranslated-3 exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19164578 19164579 rs528034680 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 1 JMKIDD_LAB, 0 731 chr21 19164602 19164603 rs537663915 0 + A A -/A genomic deletion by-cluster 0 0 intron,untranslated-3 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164623 19164624 rs568157137 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19164641 19164642 rs1062202 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.473451 0.112115 intron,untranslated-3 exact 1 30 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,LEE,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1927.000000,3081.000000, 0.384784,0.615216, maf-5-some-pop,maf-5-all-pops 731 chr21 19164643 19164644 rs778837141 0 + A A -/A genomic deletion unknown 0 0 intron,untranslated-3 exact 1 1 EVA_DECODE, 0 731 chr21 19164649 19164650 rs369157083 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 1 SSMP, 0 731 chr21 19164751 19164752 rs193139738 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron,untranslated-3 exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 731 chr21 19164757 19164758 rs751396301 0 + A A A/G genomic single unknown 0 0 intron,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164777 19164778 rs565801919 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron,untranslated-3 exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19164793 19164793 rs550468121 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.467946 0.122472 untranslated-3,splice-5 between 1 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP, 2 -,T, 3138.000000,1870.000000, 0.626597,0.373403, maf-5-some-pop,maf-5-all-pops 731 chr21 19164794 19164794 rs66622342 0 + - - -/C/T genomic insertion by-cluster,by-1000genomes 0.5 0 ncRNA,untranslated-3 between 1 InconsistentAlleles 5 1000GENOMES,BUSHMAN,GMI,LUNTER,PADH-LAB_SPU, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19164803 19164803 rs398121470 0 + - - -/T genomic insertion unknown 0 0 ncRNA,untranslated-3 between 1 1 GMI, 0 731 chr21 19164811 19164812 rs539778560 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 ncRNA,untranslated-3 exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19164813 19164814 rs558162174 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 ncRNA,untranslated-3 exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19164813 19164813 rs533172271 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 ncRNA,untranslated-3 between 1 MixedObserved 2 1000GENOMES,SSIP, 2 -,C, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19164828 19164829 rs577597193 0 + A A A/G genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19164834 19164835 rs58598529 0 + T T A/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 HGSV, 0 731 chr21 19164842 19164843 rs754835011 0 + T T C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164897 19164898 rs570112642 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19164906 19164907 rs781198430 0 + G G A/G genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164908 19164909 rs772077217 0 + C C C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 EVA_DECODE, 0 731 chr21 19164910 19164911 rs2220511 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.469148 0.120308 near-gene-5,untranslated-3 exact 1 30 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1882.000000,3126.000000, 0.375799,0.624201, maf-5-some-pop,maf-5-all-pops 731 chr21 19164911 19164912 rs555539903 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19164912 19164912 rs778452971 0 + - - -/C genomic insertion by-cluster 0 0 near-gene-5,untranslated-3 between 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19164915 19164916 rs147214358 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 near-gene-5,untranslated-3 exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164934 19164935 rs777461741 0 + A A A/C genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19164942 19164943 rs140320447 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19164961 19164962 rs534881064 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19164969 19164970 rs559439715 0 + T T C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 EVA-GONL, 0 731 chr21 19164975 19164976 rs550013835 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 near-gene-5,untranslated-3 exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19164996 19164997 rs577892090 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19165089 19165090 rs1352601 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.379942 0.213577 near-gene-5,untranslated-3 exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3731.000000,1277.000000, 0.745008,0.254992, maf-5-some-pop,maf-5-all-pops 731 chr21 19165101 19165102 rs866513548 0 + G G A/G genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19165258 19165263 rs199678564 0 + ACTCA ACTCA -/ACTCA genomic deletion by-1000genomes 0 0 near-gene-5,untranslated-3 range 1 1 1000GENOMES, 0 731 chr21 19165259 19165261 rs143976803 0 + CT CT -/CT genomic deletion by-cluster,by-1000genomes 0 0 near-gene-5,untranslated-3 range 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 0 731 chr21 19165260 19165261 rs5842660 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.46855 0.121392 near-gene-5,untranslated-3 exact 1 MixedObserved 6 1000GENOMES,ABI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 2 -,T, 1876.000000,3132.000000, 0.374601,0.625399, maf-5-some-pop,maf-5-all-pops 731 chr21 19165260 19165261 rs201447193 0 + T T C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 MixedObserved 1 GMI, 0 731 chr21 19165260 19165263 rs759032238 0 + TCA TCA -/TCA genomic deletion by-cluster 0 0 near-gene-5,cds-indel range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19165260 19165262 rs776480306 0 + TC TC -/TC genomic deletion unknown 0 0 near-gene-5,untranslated-3 range 1 MixedObserved 1 EVA_DECODE, 0 731 chr21 19165260 19165263 rs796892029 0 + TCA TCA C/TCA genomic in-del unknown 0 0 near-gene-5,untranslated-3 rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 731 chr21 19165260 19165261 rs869192480 0 + T T -/T genomic deletion unknown 0 0 near-gene-5,untranslated-3 exact 1 MixedObserved 1 DEVINE_LAB, 0 731 chr21 19165260 19165260 rs796295364 0 + - - -/T genomic insertion unknown 0 0 near-gene-5,untranslated-3 between 1 1 DDI, 0 731 chr21 19165261 19165262 rs202223492 0 + C C A/C genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 GMI, 0 731 chr21 19165262 19165263 rs5842661 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.46855 0.121392 near-gene-5,untranslated-3 exact 1 MixedObserved 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,HGSV, 2 -,A, 1876.000000,3132.000000, 0.374601,0.625399, maf-5-some-pop,maf-5-all-pops 731 chr21 19165262 19165263 rs200380554 0 + A A A/C genomic single by-cluster 0 0 near-gene-5,untranslated-3 exact 1 MixedObserved 2 GMI,ILLUMINA, 0 731 chr21 19165262 19165263 rs869278424 0 + A A -/A genomic deletion unknown 0 0 near-gene-5,untranslated-3 exact 1 MixedObserved 1 DEVINE_LAB, 0 731 chr21 19165264 19165265 rs397867332 0 + A A -/A genomic deletion unknown 0 0 near-gene-5,untranslated-3 exact 1 1 ABI, 0 731 chr21 19165294 19165295 rs770727249 0 + C C C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19165345 19165349 rs771594747 0 + AATA AATA -/AATA genomic deletion unknown 0 0 near-gene-5,untranslated-3 range 1 1 SSMP, 0 731 chr21 19165368 19165369 rs774538038 0 + T T C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19165378 19165379 rs769531741 0 + T T C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 EVA_DECODE, 0 731 chr21 19165390 19165391 rs563727955 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19165445 19165446 rs772562652 0 + T T C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 EVA_DECODE, 0 731 chr21 19165465 19165465 rs747417232 0 + - - -/T genomic insertion by-cluster 0 0 near-gene-5,untranslated-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19165477 19165478 rs144168145 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 near-gene-5,untranslated-3 exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19165480 19165481 rs543408456 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19165488 19165490 rs201763876 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 near-gene-5,untranslated-3 range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF, 2 -,AT, 81.000000,4927.000000, 0.016174,0.983826, 731 chr21 19165508 19165509 rs561600162 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19165520 19165521 rs75633540 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 near-gene-5,untranslated-3 exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19165530 19165531 rs547260464 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5,untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19165597 19165598 rs748328202 0 + G G -/G genomic deletion by-cluster 0 0 near-gene-5,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19165616 19165617 rs113939661 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 near-gene-5,untranslated-3 exact 1 6 1000GENOMES,BUSHMAN,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, maf-5-some-pop 731 chr21 19165661 19165662 rs765826744 0 + A A A/C genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 EVA_DECODE, 0 731 chr21 19165684 19165685 rs778294780 0 + C C C/T genomic single unknown 0.000021 0.00321 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 97053.000000,1.000000, 0.999990,0.000010, 731 chr21 19165695 19165696 rs749773695 0 + A A A/G genomic single by-frequency 0.000041 0.004515 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 98102.000000,2.000000, 0.999980,0.000020, 731 chr21 19165703 19165704 rs771343011 0 + C C C/G genomic single unknown 0.00002 0.003187 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,G, 98463.000000,1.000000, 0.999990,0.000010, 731 chr21 19165705 19165706 rs779245749 0 + G G A/G genomic single unknown 0.00002 0.003184 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 1.000000,98615.000000, 0.000010,0.999990, 731 chr21 19165706 19165707 rs369373727 0 + G G C/G genomic single by-cluster 0.00002 0.003174 near-gene-5,untranslated-3 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,G, 1.000000,99239.000000, 0.000010,0.999990, 731 chr21 19165707 19165708 rs771639785 0 + G G A/G genomic single by-frequency 0.00004 0.00449 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 2.000000,99174.000000, 0.000020,0.999980, 731 chr21 19165709 19165710 rs775162936 0 + A A A/G genomic single unknown 0.00002 0.003159 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 100193.000000,1.000000, 0.999990,0.000010, 731 chr21 19165712 19165713 rs533264535 0 + C C C/T genomic single by-1000genomes 0.000777 0.019701 near-gene-5,untranslated-3 exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 105256.000000,40.000000, 0.999620,0.000380, 731 chr21 19165713 19165714 rs768256020 0 + G G A/G genomic single unknown 0.00002 0.003147 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 1.000000,100949.000000, 0.000010,0.999990, 731 chr21 19165716 19165717 rs776764072 0 + G G A/G genomic single by-frequency 0.000079 0.006269 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 4.000000,101750.000000, 0.000039,0.999961, 731 chr21 19165717 19165718 rs761834550 0 + T T A/T genomic single unknown 0.00002 0.003132 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,T, 1.000000,101949.000000, 0.000010,0.999990, 731 chr21 19165720 19165721 rs765196285 0 + G G C/G genomic single by-frequency 0.000059 0.005409 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,G, 3.000000,102513.000000, 0.000029,0.999971, 731 chr21 19165721 19165722 rs547253578 0 + T T C/T genomic single by-cluster 0 0 near-gene-5,untranslated-3 exact 1 1 JMKIDD_LAB, 0 731 chr21 19165725 19165726 rs754621650 0 + T T C/T genomic single unknown 0 0 near-gene-5,untranslated-3 exact 1 1 EVA_MGP, 0 731 chr21 19165726 19165727 rs750198116 0 + T T C/T genomic single unknown 0.000019 0.0031 near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,104031.000000, 0.000010,0.999990, 731 chr21 19165734 19165735 rs372501920 0 + G G A/G genomic single by-cluster 0.000019 0.003067 coding-synon,near-gene-5,untranslated-3 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 1.000000,106323.000000, 0.000009,0.999991, 731 chr21 19165736 19165737 rs767661736 0 + T T C/T genomic single by-frequency 0.000037 0.004328 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 2.000000,106768.000000, 0.000019,0.999981, 731 chr21 19165740 19165741 rs752931493 0 + T T G/T genomic single unknown 0.000019 0.003046 coding-synon,near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 G,T, 1.000000,107805.000000, 0.000009,0.999991, 731 chr21 19165742 19165743 rs756237428 0 + T T C/T genomic single unknown 0.000018 0.003039 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,108307.000000, 0.000009,0.999991, 731 chr21 19165752 19165753 rs373599266 0 + C C C/T genomic single by-cluster 0.000018 0.003013 coding-synon,near-gene-5,untranslated-3 exact 1 2 EVA_EXAC,TISHKOFF, 2 C,T, 110165.000000,1.000000, 0.999991,0.000009, 731 chr21 19165753 19165754 rs551741122 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000325 0.012736 near-gene-5,missense,untranslated-3 exact 1 3 1000GENOMES,EVA_EXAC,ILLUMINA, 2 A,G, 24.000000,115868.000000, 0.000207,0.999793, 731 chr21 19165755 19165756 rs757766192 0 + C C C/T genomic single unknown 0.000018 0.002995 coding-synon,near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 111511.000000,1.000000, 0.999991,0.000009, 731 chr21 19165764 19165765 rs779422028 0 + T T C/T genomic single unknown 0.000018 0.002976 coding-synon,near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,112899.000000, 0.000009,0.999991, 731 chr21 19165768 19165769 rs746245395 0 + C C C/T genomic single by-frequency 0.000053 0.005144 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 113373.000000,3.000000, 0.999974,0.000026, 731 chr21 19165769 19165770 rs772445287 0 + G G A/G genomic single by-cluster,by-frequency 0.00007 0.005934 near-gene-5,nonsense,untranslated-3 exact 1 2 EVA_EXAC,ILLUMINA, 2 A,G, 4.000000,113564.000000, 0.000035,0.999965, 731 chr21 19165775 19165776 rs779616662 0 + C C C/T genomic single unknown 0.000017 0.002948 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 115037.000000,1.000000, 0.999991,0.000009, 731 chr21 19165776 19165777 rs746657286 0 + T T C/T genomic single unknown 0.000017 0.002945 coding-synon,near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,115289.000000, 0.000009,0.999991, 731 chr21 19165794 19165795 rs17002088 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.001241 0.024883 coding-synon,near-gene-5,untranslated-3 exact 1 6 1000GENOMES,EVA_EXAC,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN, 2 A,G, 122458.000000,84.000000, 0.999315,0.000685, 731 chr21 19165795 19165796 rs776282923 0 + G G C/G/T genomic single by-frequency 0.000034 0.004124 near-gene-5,missense,untranslated-3 exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 1.000000,117608.000000,1.000000, 0.000009,0.999983,0.000009, 731 chr21 19165799 19165800 rs769873891 0 + A A A/G genomic single unknown 0.000017 0.002911 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 117985.000000,1.000000, 0.999992,0.000008, 731 chr21 19165802 19165803 rs773159450 0 + T T C/T genomic single unknown 0.000017 0.002908 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,118261.000000, 0.000008,0.999992, 731 chr21 19165817 19165818 rs75916355 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000101 0.007091 near-gene-5,missense,untranslated-3 exact 1 4 1000GENOMES,EVA_EXAC,ILLUMINA,NHLBI-ESP, 2 C,T, 124302.000000,8.000000, 0.999936,0.000064, 731 chr21 19165818 19165819 rs200103095 0 + G G A/G genomic single by-cluster 0.000285 0.011928 coding-synon,near-gene-5,untranslated-3 exact 1 5 CLINSEQ_SNP,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 17.000000,119389.000000, 0.000142,0.999858, 731 chr21 19165826 19165827 rs752922725 0 + C C C/T genomic single by-frequency 0.00005 0.005008 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 119617.000000,3.000000, 0.999975,0.000025, 731 chr21 19165827 19165828 rs376996901 0 + G G A/G genomic single by-cluster,by-frequency 0.000067 0.005782 coding-synon,near-gene-5,untranslated-3 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 4.000000,119640.000000, 0.000033,0.999967, 731 chr21 19165831 19165832 rs764235279 0 + C C C/T genomic single by-cluster 0.000017 0.00289 near-gene-5,missense,untranslated-3 exact 1 2 EVA_EXAC,ILLUMINA, 2 C,T, 119693.000000,1.000000, 0.999992,0.000008, 731 chr21 19165832 19165833 rs201559190 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000651 0.018034 near-gene-5,missense,untranslated-3 exact 1 9 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,G, 41.000000,124695.000000, 0.000329,0.999671, 731 chr21 19165835 19165836 rs757283460 0 + C C C/G genomic single unknown 0.000017 0.00289 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,G, 119741.000000,1.000000, 0.999992,0.000008, 731 chr21 19165836 19165837 rs765697639 0 + A A A/G genomic single unknown 0.000017 0.00289 coding-synon,near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 119757.000000,1.000000, 0.999992,0.000008, 731 chr21 19165838 19165839 rs750913699 0 + G G A/G genomic single by-frequency 0.000033 0.004087 near-gene-5,missense,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 2.000000,119708.000000, 0.000017,0.999983, 731 chr21 19165840 19165841 rs375675833 0 + A A A/C genomic single unknown 0.000164 0.009054 near-gene-5,missense,untranslated-3 exact 1 1 NHLBI-ESP, 2 A,C, 12203.000000,1.000000, 0.999918,0.000082, 731 chr21 19165843 19165844 rs377549836 0 + T T A/T genomic single by-cluster,by-frequency 0.000117 0.007646 near-gene-5,missense,untranslated-3 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 7.000000,119709.000000, 0.000058,0.999942, 731 chr21 19165848 19165849 rs780460019 0 + G G C/G genomic single unknown 0.000017 0.002891 coding-synon,near-gene-5,untranslated-3 exact 1 1 EVA_EXAC, 2 C,G, 1.000000,119651.000000, 0.000008,0.999992, 731 chr21 19165855 19165856 rs370784680 0 + G G A/G genomic single by-cluster,by-frequency 0.00005 0.00501 near-gene-5,missense,untranslated-3 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 3.000000,119513.000000, 0.000025,0.999975, 731 chr21 19165858 19165859 rs374793972 0 + T T A/T genomic single by-cluster,by-frequency 0.00005 0.005011 near-gene-5,missense,untranslated-3 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 3.000000,119451.000000, 0.000025,0.999975, 731 chr21 19165878 19165879 rs76915028 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.011756 0.075762 coding-synon,near-gene-5,untranslated-3 exact 1 8 1000GENOMES,BUSHMAN,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,T, 121783.000000,761.000000, 0.993790,0.006210, maf-5-some-pop 731 chr21 19165896 19165897 rs747690893 0 + T T G/T genomic single unknown 0.000018 0.003012 near-gene-5,missense,stop-loss,splice-3 exact 1 1 EVA_EXAC, 2 G,T, 1.000000,110225.000000, 0.000009,0.999991, 731 chr21 19165915 19165916 rs769395784 0 + A A A/G genomic single unknown 0.00002 0.003136 intron,near-gene-5 exact 1 1 EVA_EXAC, 2 A,G, 101659.000000,1.000000, 0.999990,0.000010, 731 chr21 19165921 19165922 rs535145078 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19165922 19165923 rs530934931 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.00249 0.035194 intron,near-gene-5 exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_EXAC, 2 -,T, 125.000000,102765.000000, 0.001215,0.998785, 731 chr21 19165930 19165931 rs367786519 0 + A A A/G genomic single by-cluster,by-frequency 0.000129 0.008028 intron,near-gene-5 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 93066.000000,6.000000, 0.999936,0.000064, 731 chr21 19165931 19165932 rs550343756 0 + T T C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA-GONL, 0 731 chr21 19165933 19165934 rs770699669 0 + C C C/G genomic single unknown 0.000022 0.003336 intron,near-gene-5 exact 1 1 EVA_EXAC, 2 C,G, 89861.000000,1.000000, 0.999989,0.000011, 731 chr21 19165940 19165941 rs371460924 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000096 0.006945 intron,near-gene-5 exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 3 C,G,T, 87905.000000,1.000000,4.000000, 0.999943,0.000011,0.000046, 731 chr21 19165941 19165942 rs2824493 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.442462 0.159557 intron,near-gene-5 exact 1 24 1000GENOMES,AFFY,BGI,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 58781.000000,28437.000000, 0.673955,0.326045, maf-5-some-pop 731 chr21 19165942 19165943 rs776742595 0 + G G A/G genomic single by-frequency 0.000033 0.004079 intron,near-gene-5 exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,120198.000000, 0.000017,0.999983, 731 chr21 19165947 19165954 rs761326149 0 + TATGATT TATGATT -/TATGATT genomic deletion unknown 0.000017 0.002885 intron,near-gene-5 range 1 MixedObserved 1 EVA_EXAC, 2 -,TATGATT, 1.000000,120173.000000, 0.000008,0.999992, 731 chr21 19165947 19165948 rs761923183 0 + T T C/T genomic single unknown 0.000028 0.003748 intron,near-gene-5 exact 1 MixedObserved 1 EVA_EXAC, 2 C,T, 1.000000,71187.000000, 0.000014,0.999986, 731 chr21 19165955 19165956 rs764548654 0 + A A A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19165978 19165979 rs533055974 0 + A A A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA-GONL, 0 731 chr21 19165991 19165992 rs761976338 0 + G G A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19165993 19165994 rs538854545 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19165993 19165995 rs769988548 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron,near-gene-5 range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166021 19166022 rs139068151 0 + C C C/G genomic single by-1000genomes 0 0 intron,near-gene-5 exact 1 1 1000GENOMES, 0 731 chr21 19166027 19166027 rs34211032 0 + - - -/G genomic insertion unknown 0 0 intron,near-gene-5 between 1 1 ABI, 0 731 chr21 19166057 19166058 rs557185005 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19166082 19166083 rs765531053 0 + T T C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166101 19166102 rs575553857 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166118 19166119 rs112839550 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron,near-gene-5 exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19166128 19166128 rs763010671 0 + - - -/T genomic insertion by-cluster 0 0 intron,near-gene-5 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166136 19166137 rs561757140 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166160 19166161 rs561876700 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron,near-gene-5 exact 1 1 1000GENOMES, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19166171 19166172 rs796966213 0 + G G A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 PADH-LAB_SPU, 0 731 chr21 19166244 19166245 rs370110962 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron,near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19166248 19166249 rs541168201 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19166308 19166309 rs767279076 0 + T T A/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166326 19166327 rs752645534 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166418 19166419 rs756166699 0 + T T C/T genomic single by-cluster 0 0 intron,near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166474 19166474 rs34480075 0 + - - -/G genomic insertion unknown 0 0 intron,near-gene-5 between 1 1 ABI, 0 731 chr21 19166513 19166514 rs373152683 0 + T T A/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 SSMP, 0 731 chr21 19166516 19166517 rs559579316 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19166520 19166521 rs533120693 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166530 19166531 rs145376464 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19166542 19166543 rs149187976 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166570 19166573 rs75487540 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 intron,near-gene-5 range 1 MixedObserved 1 GMI, 0 731 chr21 19166570 19166571 rs530852033 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19166583 19166584 rs143408620 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19166603 19166604 rs567696457 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19166612 19166613 rs187371045 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron,near-gene-5 exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 731 chr21 19166625 19166626 rs566306550 0 + A A A/G genomic single by-cluster 0 0 intron,near-gene-5 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166630 19166631 rs111240557 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron,near-gene-5 exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19166641 19166642 rs756902388 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166646 19166647 rs12481944 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499663 0.012975 intron,near-gene-5 exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2439.000000,2569.000000, 0.487021,0.512979, maf-5-some-pop,maf-5-all-pops 731 chr21 19166682 19166683 rs146869199 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166687 19166688 rs557146575 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19166721 19166722 rs191564190 0 + C C C/T genomic single by-1000genomes 0 0 intron,near-gene-5 exact 1 1 1000GENOMES, 0 731 chr21 19166738 19166739 rs569191566 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19166759 19166760 rs536980869 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19166763 19166764 rs555065823 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166769 19166770 rs779157533 0 + T T C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19166779 19166780 rs573623092 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19166781 19166783 rs750634989 0 + AG AG -/AG genomic deletion unknown 0 0 intron,near-gene-5 range 1 1 EVA_DECODE, 0 731 chr21 19166796 19166797 rs374856994 0 + A A A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 SSMP, 0 731 chr21 19166821 19166822 rs112743063 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron,near-gene-5 exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19166822 19166823 rs772481700 0 + T T C/T genomic single by-cluster 0 0 intron,near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166827 19166828 rs775758917 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166836 19166837 rs567303975 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP, 2 C,G, 52.000000,4956.000000, 0.010383,0.989617, maf-5-some-pop 731 chr21 19166895 19166896 rs147936229 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 731 chr21 19166898 19166899 rs769175680 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19166920 19166921 rs577836976 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166924 19166925 rs140524623 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19166932 19166933 rs780116033 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19166977 19166978 rs75844729 0 + A A A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 731 chr21 19166987 19166988 rs548775813 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19167008 19167009 rs776654697 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19167020 19167021 rs530708830 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19167044 19167045 rs111395391 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19167108 19167109 rs542946558 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19167109 19167110 rs561034319 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19167129 19167130 rs528438206 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19167147 19167148 rs113638629 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19167161 19167162 rs746940225 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19167185 19167186 rs768633996 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19167219 19167220 rs769854312 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19167236 19167237 rs773474732 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19167246 19167246 rs112813120 0 + - - -/ATGGCGCACC genomic insertion by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron between 1 3 1000GENOMES,BUSHMAN,LUNTER, 2 -,ATGGCGCACC, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19167248 19167249 rs536208334 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19167254 19167255 rs532503759 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19167269 19167270 rs550740771 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19167318 19167319 rs866741250 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19167319 19167320 rs569481447 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19167321 19167321 rs550529621 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.41023 0.191902 intron between 1 2 1000GENOMES,SSMP, 2 -,A, 3565.000000,1443.000000, 0.711861,0.288139, maf-5-some-pop,maf-5-all-pops 731 chr21 19167322 19167322 rs56814896 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 GMI, 0 731 chr21 19167337 19167338 rs79154795 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19167337 19167338 rs201139222 0 + G G -/G genomic deletion by-1000genomes 0 0 intron exact 1 MixedObserved 1 1000GENOMES, 0 731 chr21 19167337 19167337 rs397952512 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 731 chr21 19167365 19167366 rs536536147 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19167396 19167397 rs555205333 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19167412 19167413 rs567057072 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19167422 19167423 rs767319494 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19167478 19167479 rs2258119 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.350432 0.22894 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 28637.000000,96543.000000, 0.228767,0.771233, maf-5-some-pop,maf-5-all-pops 731 chr21 19167479 19167480 rs750955506 0 + G G G/T genomic single by-frequency 0.000033 0.004075 intron exact 1 1 EVA_EXAC, 2 G,T, 120426.000000,2.000000, 0.999983,0.000017, 731 chr21 19167489 19167490 rs76024443 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011391 0.074603 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_EXAC,ILLUMINA,JMKIDD_LAB,SSMP, 2 G,T, 124710.000000,756.000000, 0.993974,0.006026, maf-5-some-pop 731 chr21 19167497 19167498 rs766734459 0 + C C C/T genomic single by-frequency 0.000033 0.004074 intron exact 1 1 EVA_EXAC, 2 C,T, 120512.000000,2.000000, 0.999983,0.000017, 731 chr21 19167499 19167500 rs372307704 0 + A A A/C/G genomic single by-cluster,by-frequency 0.000083 0.006442 intron exact 1 SingleClassTriAllelic 2 EVA_EXAC,SSMP, 3 A,C,G, 120477.000000,2.000000,3.000000, 0.999959,0.000017,0.000025, 731 chr21 19167505 19167506 rs78736108 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011434 0.074741 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_EXAC,ILLUMINA,JMKIDD_LAB,SSMP, 2 C,T, 759.000000,124771.000000, 0.006046,0.993954, maf-5-some-pop 731 chr21 19167507 19167508 rs201848082 0 + C C A/C/G/T genomic single by-cluster 0.000033 0.004073 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 2 CLINSEQ_SNP,EVA_EXAC, 3 A,C,G, 1.000000,120550.000000,1.000000, 0.000008,0.999983,0.000008, rs-cluster-nonoverlapping-alleles 731 chr21 19167510 19167511 rs545155252 0 + A A A/T genomic single by-1000genomes 0.00005 0.004988 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 125560.000000,4.000000, 0.999968,0.000032, 731 chr21 19167512 19167513 rs748679901 0 + A A A/G genomic single by-frequency 0.000066 0.00576 intron exact 1 1 EVA_EXAC, 2 A,G, 120558.000000,4.000000, 0.999967,0.000033, 731 chr21 19167525 19167526 rs371780633 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000133 0.008143 intron,missense exact 1 5 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 C,G, 125611.000000,9.000000, 0.999928,0.000072, 731 chr21 19167532 19167533 rs774226831 0 + T T C/T genomic single unknown 0.000017 0.002879 intron,missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120613.000000, 0.000008,0.999992, 731 chr21 19167533 19167534 rs868756738 0 + G G A/G genomic single unknown 0 0 intron,nonsense exact 1 1 ILLUMINA, 0 731 chr21 19167534 19167535 rs745697866 0 + C C C/T genomic single unknown 0.000017 0.002879 coding-synon,intron exact 1 1 EVA_EXAC, 2 C,T, 120613.000000,1.000000, 0.999992,0.000008, 731 chr21 19167540 19167541 rs771825267 0 + G G C/G genomic single unknown 0.000017 0.002879 coding-synon,intron exact 1 1 EVA_EXAC, 2 C,G, 1.000000,120619.000000, 0.000008,0.999992, 731 chr21 19167557 19167558 rs776890311 0 + G G G/T genomic single by-frequency 0.000033 0.004072 intron,missense exact 1 1 EVA_EXAC, 2 G,T, 120604.000000,2.000000, 0.999983,0.000017, 731 chr21 19167569 19167570 rs762015055 0 + C C C/T genomic single unknown 0.000017 0.00288 intron,missense exact 1 1 EVA_EXAC, 2 C,T, 120583.000000,1.000000, 0.999992,0.000008, 731 chr21 19167572 19167573 rs200261616 0 + G G C/G/T genomic single by-cluster,by-1000genomes 0.000066 0.005759 intron,missense exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 C,G,T, 3.000000,125575.000000,2.000000, 0.000024,0.999960,0.000016, 731 chr21 19167573 19167574 rs375258768 0 + A A A/C genomic single by-cluster,by-frequency 0.000116 0.007619 coding-synon,intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 120561.000000,7.000000, 0.999942,0.000058, 731 chr21 19167580 19167581 rs112947646 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000813 0.020143 intron,missense exact 1 6 1000GENOMES,BUSHMAN,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,G, 51.000000,125483.000000, 0.000406,0.999594, 731 chr21 19167584 19167585 rs752082043 0 + T T A/T genomic single unknown 0.000017 0.00288 intron,missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120517.000000, 0.000008,0.999992, 731 chr21 19167609 19167610 rs760025305 0 + C C C/T genomic single unknown 0.000017 0.002882 intron exact 1 1 EVA_EXAC, 2 C,T, 120391.000000,1.000000, 0.999992,0.000008, 731 chr21 19167616 19167617 rs188681955 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000017 0.002883 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 125352.000000,2.000000, 0.999984,0.000016, 731 chr21 19167622 19167623 rs367745042 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000249 0.011162 intron exact 1 3 1000GENOMES,EVA_EXAC,SSMP, 2 A,C, 125301.000000,17.000000, 0.999864,0.000136, 731 chr21 19167624 19167625 rs138319162 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000017 0.002883 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 2.000000,125286.000000, 0.000016,0.999984, 731 chr21 19167626 19167627 rs777233992 0 + T T A/T genomic single unknown 0.000017 0.002884 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120243.000000, 0.000008,0.999992, 731 chr21 19167627 19167628 rs76628626 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01151 0.074982 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,C, 124488.000000,762.000000, 0.993916,0.006084, maf-5-some-pop 731 chr21 19167636 19167637 rs756686236 0 + T T A/T genomic single by-frequency 0.00015 0.008655 intron exact 1 1 EVA_EXAC, 2 A,T, 9.000000,120097.000000, 0.000075,0.999925, 731 chr21 19167645 19167646 rs192648111 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19167661 19167662 rs753340663 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19167663 19167664 rs73206398 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19167696 19167697 rs184541061 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19167715 19167716 rs530269524 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19167724 19167725 rs865796485 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19167732 19167733 rs548521155 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19167746 19167747 rs567121170 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19167766 19167767 rs537974297 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19167769 19167770 rs114605336 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,C, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 731 chr21 19167776 19167777 rs571301604 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19167811 19167812 rs117007230 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 G,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19167836 19167837 rs112323701 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 731 chr21 19167837 19167838 rs575263418 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19167862 19167863 rs372440166 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19167868 19167869 rs769087857 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19167870 19167871 rs201714070 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19167937 19167938 rs577516134 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19167956 19167957 rs377130318 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19167986 19167987 rs573070916 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19168002 19168003 rs150216569 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,EVA_DECODE,GMI,SSMP, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19168011 19168012 rs1080029 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.386123 0.209692 intron exact 1 18 1000GENOMES,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3699.000000,1309.000000, 0.738618,0.261382, maf-5-some-pop 731 chr21 19168052 19168053 rs377134161 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19168057 19168058 rs138052335 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 731 chr21 19168065 19168067 rs138122946 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron range 1 2 1000GENOMES,LUNTER, 2 -,AG, 44.000000,4964.000000, 0.008786,0.991214, 731 chr21 19168078 19168079 rs377355386 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19168084 19168085 rs562973286 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19168103 19168104 rs34331735 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 731 chr21 19168116 19168116 rs533671625 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,A, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19168147 19168148 rs769882363 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168157 19168158 rs149503219 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19168162 19168163 rs147223300 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19168163 19168164 rs190605698 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19168194 19168195 rs369787947 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19168210 19168211 rs773210169 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168225 19168226 rs556158665 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19168256 19168257 rs78941194 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 67.000000,4941.000000, 0.013379,0.986621, maf-5-some-pop 731 chr21 19168270 19168271 rs140568298 0 + C C A/C genomic single by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 1 1000GENOMES, 2 A,C, 35.000000,4973.000000, 0.006989,0.993011, 731 chr21 19168282 19168283 rs538608258 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19168291 19168292 rs553643662 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19168296 19168297 rs573126892 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19168301 19168302 rs78295706 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19168307 19168308 rs568917676 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19168310 19168314 rs772049844 0 + TAAA TAAA -/TAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168351 19168352 rs542182541 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168375 19168376 rs774072076 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19168392 19168393 rs535991701 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19168436 19168437 rs775356705 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168470 19168471 rs554746449 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19168471 19168472 rs113732645 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 4941.000000,67.000000, 0.986621,0.013379, maf-5-some-pop 731 chr21 19168478 19168479 rs2130316 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.367091 0.220884 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1213.000000,3795.000000, 0.242212,0.757788, maf-5-some-pop,maf-5-all-pops 731 chr21 19168480 19168481 rs753822690 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168506 19168507 rs182168914 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19168511 19168512 rs74467494 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19168538 19168539 rs764783158 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168548 19168549 rs749924939 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168569 19168570 rs76866669 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 731 chr21 19168592 19168593 rs75282970 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 C,T, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19168633 19168634 rs574856660 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19168691 19168692 rs542007920 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19168697 19168698 rs779689348 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168745 19168746 rs751868763 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168767 19168768 rs755309608 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168786 19168787 rs560641249 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19168801 19168802 rs781608644 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19168809 19168810 rs527838332 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19168812 19168813 rs868063824 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19168827 19168828 rs77632878 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4964.000000,44.000000, 0.991214,0.008786, 731 chr21 19168842 19168843 rs536630928 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19168854 19168855 rs778867079 0 + A A A/T genomic single unknown 0.000018 0.002983 intron exact 1 1 EVA_EXAC, 2 A,T, 112405.000000,1.000000, 0.999991,0.000009, 731 chr21 19168862 19168863 rs745785658 0 + C C C/T genomic single unknown 0.000018 0.002979 intron exact 1 1 EVA_EXAC, 2 C,T, 112661.000000,1.000000, 0.999991,0.000009, 731 chr21 19168865 19168866 rs371714407 0 + C C C/T genomic single by-cluster,by-frequency 0.000142 0.008411 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 113038.000000,8.000000, 0.999929,0.000071, 731 chr21 19168866 19168867 rs779826361 0 + C C A/C/T genomic single by-frequency 0.000035 0.004205 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,113098.000000,1.000000, 0.000009,0.999982,0.000009, 731 chr21 19168870 19168871 rs770072668 0 + C C A/C genomic single unknown 0.000018 0.002969 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,113437.000000, 0.000009,0.999991, 731 chr21 19168885 19168886 rs773263510 0 + C C C/G genomic single by-frequency 0.000207 0.010183 intron exact 1 1 EVA_EXAC, 2 C,G, 115652.000000,12.000000, 0.999896,0.000104, 731 chr21 19168893 19168894 rs200019621 0 + C C C/T genomic single by-cluster 0.000153 0.008746 intron exact 1 6 CLINSEQ_SNP,EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 C,T, 117605.000000,9.000000, 0.999923,0.000077, 731 chr21 19168897 19168898 rs770891578 0 + C C A/C/T genomic single by-frequency 0.000068 0.005812 splice-5 exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,118390.000000,3.000000, 0.000008,0.999966,0.000025, 731 chr21 19168913 19168914 rs2824494 0 + A A A/G genomic single by-cluster,by-submitter,by-hapmap 0 0 missense exact 1 SingleAlleleFreq 4 AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN, 1 A, 420.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 731 chr21 19168915 19168916 rs550131947 0 + T T C/T genomic single by-cluster 0 0 missense exact 1 1 JMKIDD_LAB, 0 731 chr21 19168917 19168918 rs200770394 0 + T T C/T genomic single by-cluster,by-1000genomes 0.001379 0.026225 coding-synon exact 1 8 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_EXAC,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 C,T, 84.000000,125192.000000, 0.000671,0.999330, 731 chr21 19168922 19168923 rs768071986 0 + G G A/G genomic single unknown 0.000017 0.002881 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120433.000000, 0.000008,0.999992, 731 chr21 19168927 19168928 rs753126442 0 + G G C/G genomic single unknown 0.000017 0.00288 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,120529.000000, 0.000008,0.999992, 731 chr21 19168953 19168954 rs760899581 0 + G G A/G genomic single unknown 0.000017 0.002878 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120725.000000, 0.000008,0.999992, 731 chr21 19168955 19168956 rs76202022 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000563 0.016769 missense exact 1 5 1000GENOMES,CLINSEQ_SNP,EVA_EXAC,ILLUMINA,SSMP, 2 C,T, 38.000000,125704.000000, 0.000302,0.999698, 731 chr21 19168958 19168959 rs35992524 0 + T T G/T genomic single unknown 0 0 missense exact 1 1 ABI, 0 731 chr21 19168959 19168960 rs142700004 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 coding-synon exact 1 3 1000GENOMES,NHLBI-ESP,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19168960 19168961 rs753405217 0 + T T G/T genomic single unknown 0.000017 0.002878 missense exact 1 MixedObserved 1 EVA_EXAC, 2 G,T, 1.000000,120733.000000, 0.000008,0.999992, 731 chr21 19168960 19168963 rs771502455 0 + TCT TCT -/TCT genomic deletion unknown 0.000033 0.00407 cds-indel range 1 MixedObserved 1 EVA_EXAC, 2 -,TCT, 2.000000,120721.000000, 0.000017,0.999983, 731 chr21 19168964 19168965 rs756842780 0 + C C A/C genomic single unknown 0.000017 0.002878 nonsense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120741.000000, 0.000008,0.999992, 731 chr21 19168976 19168977 rs778384745 0 + C C C/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,T, 120737.000000,1.000000, 0.999992,0.000008, 731 chr21 19168977 19168978 rs8128004 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.005583 0.052539 missense exact 1 8 1000GENOMES,AFFY,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 125366.000000,382.000000, 0.996962,0.003038, maf-5-some-pop 731 chr21 19168983 19168984 rs758342581 0 + G G A/G genomic single unknown 0.000017 0.002878 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120739.000000, 0.000008,0.999992, 731 chr21 19168989 19168990 rs779914171 0 + A A A/G genomic single unknown 0.000017 0.002878 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120741.000000,1.000000, 0.999992,0.000008, 731 chr21 19169005 19169006 rs560313792 0 + C C C/T genomic single by-cluster,by-frequency 0.000033 0.00407 missense exact 1 5 EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 120742.000000,2.000000, 0.999983,0.000017, 731 chr21 19169011 19169012 rs200192230 0 + C C C/T genomic single by-cluster,by-frequency 0.000166 0.009099 missense exact 1 6 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,T, 120730.000000,10.000000, 0.999917,0.000083, 731 chr21 19169012 19169013 rs201245548 0 + G G A/G genomic single by-cluster 0.000017 0.002878 missense exact 1 4 EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,G, 1.000000,120749.000000, 0.000008,0.999992, 731 chr21 19169014 19169015 rs377672791 0 + C C C/T genomic single by-cluster,by-frequency 0.000033 0.00407 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 120746.000000,2.000000, 0.999983,0.000017, 731 chr21 19169015 19169017 rs754332060 0 + AT AT -/AT genomic deletion unknown 0 0 frameshift range 1 1 EVA_DECODE, 0 731 chr21 19169016 19169017 rs771201183 0 + T T C/T genomic single unknown 0.000017 0.002878 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120749.000000, 0.000008,0.999992, 731 chr21 19169017 19169018 rs774577595 0 + A A A/G genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 A,G, 120753.000000,1.000000, 0.999992,0.000008, 731 chr21 19169026 19169027 rs759632033 0 + C C C/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,T, 120747.000000,1.000000, 0.999992,0.000008, 731 chr21 19169041 19169042 rs569768776 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000282 0.011861 missense exact 1 4 1000GENOMES,EVA_EXAC,ILLUMINA,SSIP, 2 A,G, 125741.000000,19.000000, 0.999849,0.000151, 731 chr21 19169042 19169043 rs370559602 0 + T T C/T genomic single by-cluster,by-frequency 0.000033 0.00407 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,120744.000000, 0.000017,0.999983, 731 chr21 19169045 19169046 rs761144724 0 + A A A/G genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 A,G, 120747.000000,1.000000, 0.999992,0.000008, 731 chr21 19169054 19169055 rs764345412 0 + A A A/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 A,T, 120749.000000,1.000000, 0.999992,0.000008, 731 chr21 19169060 19169060 rs772769196 0 + - - -/T genomic insertion unknown 0.000017 0.002878 frameshift between 1 1 EVA_EXAC, 2 -,T, 120747.000000,1.000000, 0.999992,0.000008, 731 chr21 19169065 19169065 rs868225553 0 + - - -/C genomic insertion unknown 0 0 frameshift between 1 1 ILLUMINA, 0 731 chr21 19169066 19169066 rs866847371 0 + - - -/C genomic insertion unknown 0 0 frameshift between 1 1 ILLUMINA, 0 731 chr21 19169068 19169069 rs776407247 0 + C C C/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,T, 120739.000000,1.000000, 0.999992,0.000008, 731 chr21 19169070 19169071 rs761370327 0 + C C C/G genomic single by-frequency 0.00005 0.004984 missense exact 1 1 EVA_EXAC, 2 C,G, 120741.000000,3.000000, 0.999975,0.000025, 731 chr21 19169071 19169072 rs764807830 0 + T T C/T genomic single by-frequency 0.00005 0.004984 missense exact 1 1 EVA_EXAC, 2 C,T, 3.000000,120739.000000, 0.000025,0.999975, 731 chr21 19169076 19169077 rs749953082 0 + C C C/T genomic single unknown 0.000017 0.002878 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 120739.000000,1.000000, 0.999992,0.000008, 731 chr21 19169086 19169087 rs757861893 0 + T T C/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120739.000000, 0.000008,0.999992, 731 chr21 19169094 19169095 rs766341007 0 + G G C/G genomic single by-frequency 0.000066 0.005755 missense exact 1 1 EVA_EXAC, 2 C,G, 4.000000,120734.000000, 0.000033,0.999967, 731 chr21 19169097 19169097 rs760324934 0 + - - -/A genomic insertion unknown 0.000017 0.002878 frameshift between 1 1 EVA_EXAC, 2 -,A, 120733.000000,1.000000, 0.999992,0.000008, 731 chr21 19169100 19169101 rs751427763 0 + G G A/G genomic single unknown 0.000017 0.002878 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120741.000000, 0.000008,0.999992, 731 chr21 19169102 19169103 rs547937971 0 + T T A/T genomic single by-1000genomes 0.000133 0.008139 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 9.000000,125737.000000, 0.000072,0.999928, 731 chr21 19169113 19169120 rs766700071 0 + CTTCCAT CTTCCAT -/CTTCCAT genomic deletion unknown 0.000017 0.002878 frameshift range 1 1 EVA_EXAC, 2 -,CTTCCAT, 1.000000,120737.000000, 0.000008,0.999992, 731 chr21 19169115 19169116 rs566233057 0 + T T G/T genomic single by-1000genomes 0.000033 0.00407 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 3.000000,125737.000000, 0.000024,0.999976, 731 chr21 19169132 19169133 rs36095555 0 - C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001258 0.02505 missense exact 1 9 1000GENOMES,APPLERA_GI,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP,WEILL_CORNELL_DGM, 2 C,G, 87.000000,125659.000000, 0.000692,0.999308, 731 chr21 19169134 19169135 rs757568024 0 + G G C/G genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,120737.000000, 0.000008,0.999992, 731 chr21 19169146 19169147 rs779230611 0 + A A A/C genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 A,C, 120725.000000,1.000000, 0.999992,0.000008, 731 chr21 19169153 19169154 rs745977322 0 + A A A/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 A,T, 120723.000000,1.000000, 0.999992,0.000008, 731 chr21 19169154 19169155 rs1047978 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.434502 0.168698 missense exact 1 32 1000GENOMES,AFFY,APPLERA_GI,BCM_SSAHASNP,BGI,BL,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,ILLUMINA,JMKIDD_LAB,LEE,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 85897.000000,39813.000000, 0.683295,0.316705, maf-5-some-pop 731 chr21 19169179 19169180 rs776116159 0 + T T A/T genomic single by-frequency 0.000033 0.004071 missense exact 1 1 EVA_EXAC, 2 A,T, 2.000000,120672.000000, 0.000017,0.999983, 731 chr21 19169184 19169185 rs746133121 0 + C C C/T genomic single unknown 0 0 coding-synon exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19169192 19169193 rs747461880 0 + T T C/T genomic single by-frequency 0.000033 0.004071 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,120666.000000, 0.000017,0.999983, 731 chr21 19169198 19169199 rs769135295 0 + T T C/T genomic single unknown 0.000017 0.002879 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120671.000000, 0.000008,0.999992, 731 chr21 19169199 19169200 rs776870138 0 + A A A/G genomic single unknown 0.000017 0.002879 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120663.000000,1.000000, 0.999992,0.000008, 731 chr21 19169212 19169213 rs1047976 0 - T T A/G cDNA single unknown 0 0 missense exact 1 SingleAlleleFreq 1 LEE, 1 A, 2.000000, 1.000000, 731 chr21 19169217 19169218 rs2824495 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.339552 0.23341 missense exact 1 29 1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 27373.000000,98265.000000, 0.217872,0.782128, maf-5-some-pop,maf-5-all-pops 731 chr21 19169218 19169219 rs764899347 0 + T T C/T genomic single by-frequency 0.00005 0.004986 missense exact 1 1 EVA_EXAC, 2 C,T, 3.000000,120645.000000, 0.000025,0.999975, 731 chr21 19169225 19169226 rs373695866 0 + A A A/G genomic single by-cluster 0.000017 0.002879 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 120633.000000,1.000000, 0.999992,0.000008, 731 chr21 19169243 19169244 rs762497864 0 + C C A/C/T genomic single by-frequency 0.000033 0.004072 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,120608.000000,1.000000, 0.000008,0.999983,0.000008, 731 chr21 19169246 19169247 rs202099162 0 + G G A/G genomic single by-cluster 0.000066 0.005758 coding-synon exact 1 2 CLINSEQ_SNP,EVA_EXAC, 2 A,G, 4.000000,120606.000000, 0.000033,0.999967, 731 chr21 19169255 19169256 rs754875633 0 + T T G/T genomic single unknown 0.000017 0.002879 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,120605.000000, 0.000008,0.999992, 731 chr21 19169259 19169260 rs767432023 0 + T T C/T genomic single by-frequency 0.000033 0.004072 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 2.000000,120582.000000, 0.000017,0.999983, 731 chr21 19169274 19169275 rs752456963 0 + C C C/T genomic single unknown 0.000017 0.00288 nonsense exact 1 1 EVA_EXAC, 2 C,T, 120563.000000,1.000000, 0.999992,0.000008, 731 chr21 19169277 19169278 rs368816028 0 + G G A/G genomic single by-cluster,by-frequency 0.000116 0.007619 coding-synon exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 7.000000,120547.000000, 0.000058,0.999942, 731 chr21 19169283 19169284 rs779318693 0 + C C C/T genomic single by-frequency 0.000033 0.004073 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 120528.000000,2.000000, 0.999983,0.000017, 731 chr21 19169298 19169299 rs746069099 0 + G G G/T genomic single unknown 0.000017 0.002881 coding-synon exact 1 1 EVA_EXAC, 2 G,T, 120501.000000,1.000000, 0.999992,0.000008, 731 chr21 19169304 19169305 rs537781367 0 + A A A/C genomic single by-1000genomes 0.000017 0.002881 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 125484.000000,2.000000, 0.999984,0.000016, 731 chr21 19169311 19169314 rs777018700 0 + TCA TCA -/TCA genomic deletion unknown 0.000017 0.002881 cds-indel range 1 1 EVA_EXAC, 2 -,TCA, 1.000000,120465.000000, 0.000008,0.999992, 731 chr21 19169313 19169314 rs761751614 0 + A A A/G genomic single by-frequency 0.000033 0.004075 coding-synon exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 120452.000000,2.000000, 0.999983,0.000017, 731 chr21 19169320 19169321 rs747048120 0 + C C C/G genomic single by-frequency 0.000083 0.006442 missense exact 1 1 EVA_EXAC, 2 C,G, 120449.000000,5.000000, 0.999959,0.000042, 731 chr21 19169323 19169324 rs200420591 0 + T T C/T genomic single by-cluster 0.00005 0.004991 missense exact 1 3 CLINSEQ_SNP,EVA_EXAC,NHLBI-ESP, 2 C,T, 3.000000,120435.000000, 0.000025,0.999975, 731 chr21 19169324 19169325 rs777151466 0 + T T C/T genomic single unknown 0.000017 0.002881 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120441.000000, 0.000008,0.999992, 731 chr21 19169325 19169326 rs748550451 0 + T T C/T genomic single unknown 0.000017 0.002881 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120435.000000, 0.000008,0.999992, 731 chr21 19169329 19169330 rs770118588 0 + A A A/T genomic single by-frequency 0.000033 0.004075 missense exact 1 1 EVA_EXAC, 2 A,T, 120410.000000,2.000000, 0.999983,0.000017, 731 chr21 19169335 19169336 rs772906179 0 + G G C/G genomic single unknown 0.000017 0.002882 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,120395.000000, 0.000008,0.999992, 731 chr21 19169338 19169339 rs762588629 0 + C C A/C/T genomic single by-frequency 0.000033 0.004076 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,120384.000000,1.000000, 0.000008,0.999983,0.000008, 731 chr21 19169340 19169341 rs773748068 0 + A A A/C genomic single unknown 0.000017 0.002882 coding-synon exact 1 1 EVA_EXAC, 2 A,C, 120389.000000,1.000000, 0.999992,0.000008, 731 chr21 19169347 19169348 rs77760879 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000133 0.008153 missense exact 1 4 1000GENOMES,EVA_EXAC,NHLBI-ESP,SEATTLESEQ, 2 A,C, 9.000000,125315.000000, 0.000072,0.999928, 731 chr21 19169367 19169368 rs201878970 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00005 0.004999 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 3.000000,120007.000000, 0.000025,0.999975, 731 chr21 19169384 19169385 rs752652318 0 + C C C/G genomic single by-frequency 0.000067 0.005794 missense exact 1 1 EVA_EXAC, 2 C,G, 119134.000000,4.000000, 0.999966,0.000034, 731 chr21 19169390 19169391 rs760599397 0 + G G A/G genomic single unknown 0.000017 0.0029 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,118933.000000, 0.000008,0.999992, 731 chr21 19169406 19169407 rs763970150 0 + G G A/G genomic single unknown 0.000017 0.002913 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,117841.000000, 0.000008,0.999992, 731 chr21 19169409 19169410 rs750745092 0 + G G A/G genomic single by-frequency 0.000221 0.010511 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 13.000000,117591.000000, 0.000111,0.999889, 731 chr21 19169410 19169411 rs758702120 0 + T T A/T genomic single unknown 0.000017 0.002917 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,117535.000000, 0.000009,0.999991, 731 chr21 19169426 19169427 rs780270000 0 + T T G/T genomic single unknown 0.000017 0.002943 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,115413.000000, 0.000009,0.999991, 731 chr21 19169427 19169428 rs751618119 0 + T T C/T genomic single unknown 0.000017 0.002944 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,115397.000000, 0.000009,0.999991, 731 chr21 19169428 19169429 rs755051627 0 + G G A/G genomic single unknown 0.000017 0.002947 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,115173.000000, 0.000009,0.999991, 731 chr21 19169430 19169431 rs781595131 0 + T T C/T genomic single by-frequency 0.000035 0.004177 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 2.000000,114642.000000, 0.000017,0.999983, 731 chr21 19169432 19169433 rs748638721 0 + C C A/C genomic single unknown 0.000018 0.00296 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,114165.000000, 0.000009,0.999991, 731 chr21 19169438 19169439 rs368266262 0 + T T C/T genomic single by-cluster,by-frequency 0.000071 0.005946 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 4.000000,113130.000000, 0.000035,0.999965, 731 chr21 19169441 19169442 rs760182694 0 + A A -/A genomic deletion unknown 0.000018 0.002994 intron exact 1 DuplicateObserved 1 EVA_EXAC, 2 -,A, 1.000000,111587.000000, 0.000009,0.999991, 731 chr21 19169441 19169441 rs765829742 0 + - - -/A genomic insertion unknown 0.000018 0.002994 intron between 1 DuplicateObserved 1 EVA_EXAC, 2 -,A, 1.000000,111587.000000, 0.000009,0.999991, 731 chr21 19169448 19169449 rs778115058 0 + A A A/T genomic single unknown 0.000018 0.003004 intron exact 1 1 EVA_EXAC, 2 A,T, 110783.000000,1.000000, 0.999991,0.000009, 731 chr21 19169449 19169450 rs749595779 0 + G G A/G genomic single unknown 0.000018 0.003007 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,110599.000000, 0.000009,0.999991, 731 chr21 19169452 19169456 rs753200483 0 + AAAC AAAC -/AAAC genomic deletion unknown 0.000018 0.003016 intron range 1 1 EVA_EXAC, 2 -,AAAC, 1.000000,109925.000000, 0.000009,0.999991, 731 chr21 19169455 19169456 rs770513389 0 + C C C/T genomic single unknown 0.000018 0.003027 intron exact 1 1 EVA_EXAC, 2 C,T, 109121.000000,1.000000, 0.999991,0.000009, 731 chr21 19169456 19169457 rs774015396 0 + A A A/C/G genomic single by-frequency 0.000037 0.00429 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,G, 108686.000000,1.000000,1.000000, 0.999982,0.000009,0.000009, 731 chr21 19169462 19169463 rs560422132 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19169465 19169466 rs771590964 0 + G G A/G genomic single unknown 0.000019 0.003063 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,106565.000000, 0.000009,0.999991, 731 chr21 19169473 19169474 rs775630389 0 + T T C/G/T genomic single by-frequency 0.000057 0.005342 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 1.000000,2.000000,105117.000000, 0.000010,0.000019,0.999971, 731 chr21 19169475 19169476 rs765089007 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19169476 19169477 rs764060216 0 + T T C/G/T genomic single by-frequency 0.000038 0.00437 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 1.000000,1.000000,104738.000000, 0.000010,0.000010,0.999981, 731 chr21 19169479 19169480 rs147365430 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000038 0.004384 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 C,G,T, 1.000000,3.000000,109072.000000, 0.000009,0.000028,0.999963, 731 chr21 19169482 19169483 rs751781246 0 + A A A/G genomic single by-frequency 0.000039 0.004397 intron exact 1 1 EVA_EXAC, 2 A,G, 103440.000000,2.000000, 0.999981,0.000019, 731 chr21 19169494 19169495 rs542207231 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19169522 19169523 rs554277200 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19169533 19169534 rs572586117 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19169552 19169553 rs12626897 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,ILLUMINA,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19169620 19169621 rs772735352 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19169643 19169647 rs760567761 0 + TCTT TCTT -/TCTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19169656 19169660 rs141554408 0 + TTAA TTAA -/TTAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron range 1 3 1000GENOMES,LUNTER,SSMP, 2 -,TTAA, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19169669 19169670 rs564697150 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19169678 19169679 rs532039671 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19169698 19169699 rs186788426 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19169727 19169728 rs562415517 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19169761 19169762 rs538768262 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19169784 19169785 rs458218 0 - C C A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 SC_JCM, 1 G, 48.000000, 1.000000, 731 chr21 19169800 19169801 rs114501125 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4963.000000,45.000000, 0.991014,0.008986, 731 chr21 19169818 19169819 rs566197965 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19169843 19169844 rs867711638 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19169881 19169882 rs201609820 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19169898 19169899 rs551553009 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19169899 19169900 rs201377250 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19169899 19169899 rs774753180 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 731 chr21 19169910 19169911 rs76492055 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19169911 19169911 rs71189563 0 + - - -/A genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 A, 2.000000, 1.000000, 731 chr21 19169912 19169913 rs74553914 0 + C C A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19169933 19169935 rs758611303 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19169939 19169940 rs548948846 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19169972 19169973 rs12626956 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,SSMP, 2 A,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19169986 19169987 rs377595511 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSIP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19169989 19169990 rs570351233 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19170008 19170014 rs377355079 0 + CATTTT CATTTT -/CATTTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron range 1 2 1000GENOMES,LUNTER, 2 -,CATTTT, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19170047 19170048 rs60504355 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.172674 0.237741 intron exact 1 14 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 478.000000,4530.000000, 0.095447,0.904553, maf-5-some-pop 731 chr21 19170088 19170089 rs12626833 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19170113 19170114 rs866694112 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19170138 19170139 rs189167375 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19170221 19170224 rs763819501 0 + TTG TTG -/TTG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19170253 19170254 rs535455088 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19170282 19170283 rs554238193 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19170312 19170313 rs572556687 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19170331 19170337 rs781071484 0 + TTAAAG TTAAAG -/TTAAAG genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19170422 19170423 rs767815365 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19170432 19170433 rs372654929 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19170472 19170473 rs546361950 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19170472 19170472 rs113891367 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 intron between 1 MixedObserved 4 1000GENOMES,BUSHMAN,LUNTER,SSMP, 2 -,A, 4935.000000,73.000000, 0.985423,0.014577, maf-5-some-pop 731 chr21 19170493 19170494 rs558380623 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19170547 19170548 rs371810723 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19170565 19170566 rs173390 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.20511 0.245937 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4427.000000,581.000000, 0.883986,0.116014, maf-5-some-pop 731 chr21 19170593 19170594 rs111851018 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19170602 19170603 rs755882871 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19170614 19170615 rs562210169 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19170656 19170657 rs756606532 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19170661 19170663 rs764929560 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19170670 19170671 rs76594782 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19170770 19170771 rs551509807 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19170796 19170797 rs113288874 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19170808 19170809 rs541438062 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19170856 19170857 rs112023006 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19170883 19170884 rs529334811 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19170886 19170887 rs571022430 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19170925 19170926 rs181152726 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,SSMP, 0 731 chr21 19170933 19170934 rs749850704 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19170935 19170936 rs559749696 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19170966 19170967 rs527374005 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19170975 19170976 rs185607079 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19170997 19170998 rs74715729 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 731 chr21 19171015 19171016 rs75336923 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.072261 0.17581 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4820.000000,188.000000, 0.962460,0.037540, maf-5-some-pop 731 chr21 19171024 19171025 rs549973199 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171025 19171026 rs757948545 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171028 19171029 rs746073504 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171035 19171036 rs142583254 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19171078 19171079 rs76465823 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19171108 19171109 rs190421479 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19171153 19171154 rs769719081 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171193 19171194 rs772997467 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171199 19171200 rs762984334 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171212 19171213 rs765864470 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171227 19171228 rs13046233 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 731 chr21 19171242 19171243 rs375034266 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19171243 19171244 rs566126335 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171246 19171247 rs369400152 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19171298 19171299 rs866783212 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19171306 19171307 rs539846244 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19171313 19171314 rs773867807 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171317 19171318 rs111912616 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19171336 19171337 rs759124968 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171339 19171340 rs767191782 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171341 19171342 rs753058259 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171386 19171387 rs150952321 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 731 chr21 19171387 19171388 rs180847764 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19171397 19171398 rs764561074 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171450 19171451 rs868826946 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19171454 19171455 rs243553 0 - T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.198944 0.244731 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 561.000000,4447.000000, 0.112021,0.887979, maf-5-some-pop 731 chr21 19171479 19171480 rs117267133 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19171490 19171491 rs574233752 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171491 19171492 rs567135428 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19171501 19171502 rs773968067 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19171513 19171514 rs139902473 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19171546 19171547 rs2824496 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499784 0.010381 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2452.000000,2556.000000, 0.489617,0.510383, maf-5-some-pop,maf-5-all-pops 731 chr21 19171553 19171554 rs758651228 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171556 19171557 rs780159952 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171564 19171565 rs545413749 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19171567 19171568 rs868262868 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19171569 19171570 rs747301798 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171598 19171602 rs779669601 0 + TATC TATC -/TATC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171603 19171604 rs572197243 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, maf-5-some-pop 731 chr21 19171605 19171606 rs373298443 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19171609 19171610 rs866117351 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19171618 19171619 rs531465542 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19171624 19171629 rs113659885 0 + ATATA ATATA -/ATATA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 4 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATATA, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19171654 19171655 rs549696447 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171665 19171666 rs777686018 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171700 19171701 rs550287866 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19171731 19171731 rs36126223 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19171760 19171761 rs2824497 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.06856 0.171987 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4830.000000,178.000000, 0.964457,0.035543, maf-5-some-pop 731 chr21 19171776 19171777 rs535923914 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19171783 19171784 rs529172588 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171788 19171789 rs547666641 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19171789 19171790 rs112077644 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19171801 19171802 rs565990108 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171806 19171807 rs539808719 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19171807 19171808 rs117934839 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171830 19171831 rs570029172 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19171867 19171868 rs537585570 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19171936 19171937 rs541296359 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19171944 19171945 rs773814360 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19171982 19171983 rs554938641 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 731 chr21 19171985 19171986 rs759071647 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19172001 19172002 rs796350609 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19172009 19172010 rs771620849 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19172022 19172023 rs55837959 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19172032 19172033 rs534890054 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172033 19172034 rs112646962 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19172056 19172057 rs577943273 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172073 19172074 rs762228615 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19172076 19172077 rs545374122 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172119 19172120 rs374293625 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172120 19172121 rs576049140 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19172215 19172216 rs543552991 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172217 19172218 rs561632924 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19172277 19172278 rs185987261 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 731 chr21 19172290 19172291 rs111397335 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 C,T, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19172318 19172319 rs559658373 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172338 19172339 rs765627635 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19172387 19172391 rs781410990 0 + TCAT TCAT -/TCAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19172393 19172394 rs192096248 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19172430 19172431 rs533293250 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172443 19172457 rs147693598 0 + AGAAATTTACATAC AGAAATTTACATAC -/AGAAATTTACATAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.171704 0.237423 intron range 1 DuplicateObserved 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,AGAAATTTACATAC, 475.000000,4533.000000, 0.094848,0.905152, maf-5-some-pop 731 chr21 19172443 19172443 rs756435777 0 + - - -/AGAAATTTACATAC genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 731 chr21 19172455 19172456 rs551468173 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19172483 19172484 rs557847609 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19172511 19172512 rs754241849 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19172553 19172554 rs74338553 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,T, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19172564 19172565 rs368187874 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19172565 19172565 rs778038412 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19172622 19172623 rs549623987 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19172631 19172632 rs558418779 0 + T T C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 731 chr21 19172669 19172670 rs549409048 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19172698 19172698 rs761543763 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 731 chr21 19172717 19172718 rs567660749 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172748 19172749 rs750479101 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19172755 19172756 rs534864130 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19172757 19172758 rs577391673 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19172771 19172772 rs374949704 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19172809 19172810 rs143762345 0 + T T C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 731 chr21 19172829 19172830 rs763135591 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19172859 19172860 rs796521248 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19172897 19172898 rs116282535 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 6 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4949.000000,59.000000, 0.988219,0.011781, 731 chr21 19172927 19172928 rs557466332 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173001 19173002 rs780218884 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19173019 19173020 rs575946720 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173061 19173062 rs751722333 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19173085 19173086 rs183965769 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173110 19173111 rs755245735 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19173120 19173120 rs529179711 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,EVA_DECODE, 0 731 chr21 19173168 19173169 rs777368774 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19173206 19173207 rs555406032 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173228 19173229 rs749115779 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19173243 19173244 rs573802315 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19173303 19173304 rs541204765 0 + T T C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173306 19173307 rs559620227 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173311 19173312 rs112211713 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4937.000000,71.000000, 0.985823,0.014177, maf-5-some-pop 731 chr21 19173354 19173355 rs778801867 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19173361 19173362 rs545332321 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19173376 19173377 rs375696393 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173403 19173404 rs574801000 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19173444 19173445 rs549122398 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173488 19173489 rs567402727 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173506 19173507 rs778619409 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 731 chr21 19173529 19173530 rs542603820 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19173585 19173586 rs140690815 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19173604 19173605 rs77989617 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19173607 19173608 rs62212946 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19173609 19173610 rs767600499 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19173610 19173611 rs546784049 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173617 19173618 rs112800733 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19173618 19173619 rs571557870 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19173623 19173624 rs531347983 0 + G G C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19173625 19173626 rs187255840 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173650 19173651 rs557592999 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173660 19173661 rs190437228 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19173672 19173673 rs537023042 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173679 19173680 rs555096788 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173687 19173688 rs756074887 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19173689 19173690 rs777612043 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19173705 19173706 rs796872740 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19173712 19173713 rs573763236 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173735 19173736 rs551473075 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19173771 19173772 rs796163114 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19173787 19173788 rs553199931 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173788 19173789 rs201092517 0 + G G A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI, 0 731 chr21 19173807 19173808 rs577863909 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173808 19173809 rs544882053 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19173828 19173829 rs563561534 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19173833 19173834 rs144503341 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 731 chr21 19173845 19173846 rs868550087 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19173875 19173876 rs542995665 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19173881 19173882 rs111445821 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19173882 19173883 rs202012463 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19173886 19173887 rs546643760 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19173887 19173888 rs565049048 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19173948 19173949 rs113427742 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19173950 19173951 rs375542693 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19173972 19173973 rs550916196 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19174016 19174016 rs528666400 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 intron between 1 1 1000GENOMES, 2 -,G, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19174021 19174022 rs375753237 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19174031 19174032 rs569511080 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19174092 19174093 rs536578399 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19174106 19174107 rs187010790 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19174177 19174178 rs567316646 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19174178 19174179 rs534602592 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19174273 19174274 rs866306779 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19174274 19174275 rs369057105 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19174313 19174316 rs372312271 0 + ATT ATT -/ATT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 731 chr21 19174348 19174349 rs553061095 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19174433 19174434 rs760187235 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19174452 19174453 rs192788125 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19174457 19174458 rs538796283 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19174488 19174488 rs527413452 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,EVA_DECODE, 0 731 chr21 19174536 19174537 rs146559184 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19174541 19174542 rs778658374 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19174546 19174547 rs745527603 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19174555 19174556 rs768358589 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19174559 19174560 rs149134029 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,GMI,JMKIDD_LAB, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19174562 19174563 rs143303914 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 75.000000,4933.000000, 0.014976,0.985024, 731 chr21 19174565 19174566 rs762288533 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19174569 19174570 rs771638854 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19174579 19174580 rs560853803 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19174601 19174602 rs547160298 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19174604 19174605 rs112118674 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19174619 19174620 rs184288209 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19174623 19174624 rs565010266 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19174636 19174639 rs566781066 0 + GTG GTG -/GTG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSIP, 0 731 chr21 19174636 19174637 rs750926694 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19174646 19174647 rs775283125 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_GENOME_DK,WEILL_CORNELL_DGM, 0 731 chr21 19174667 19174668 rs763618080 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19174710 19174711 rs532527009 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19174717 19174718 rs566998441 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19174719 19174720 rs551138373 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19174758 19174759 rs76020224 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 1 ILLUMINA-UK, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19174760 19174761 rs562980874 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19174783 19174784 rs543416230 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19174864 19174865 rs536097380 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19174872 19174873 rs78483217 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 MixedObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19174872 19174873 rs534122140 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 SSIP, 0 731 chr21 19174873 19174874 rs140835322 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19174913 19174914 rs534561254 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19174982 19174983 rs546638110 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19175007 19175008 rs781502146 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175057 19175058 rs752968698 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175072 19175073 rs571307232 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19175079 19175080 rs757017786 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175085 19175086 rs778746895 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175110 19175111 rs555796776 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19175171 19175172 rs376824228 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19175175 19175176 rs187610377 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19175200 19175201 rs138826358 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19175206 19175207 rs368474075 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19175212 19175213 rs80055399 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19175223 19175224 rs113886408 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19175234 19175235 rs142937818 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19175241 19175242 rs77873348 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19175272 19175273 rs370335997 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19175311 19175312 rs112370084 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19175319 19175320 rs374997668 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19175321 19175322 rs563280588 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19175384 19175385 rs776398558 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175393 19175394 rs76258208 0 + T T A/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 A,T, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19175396 19175397 rs747840048 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175401 19175402 rs113242503 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19175406 19175407 rs137938010 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19175440 19175441 rs770275109 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175455 19175458 rs570208305 0 + GTT GTT -/GTT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,GTT, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19175464 19175465 rs568880743 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19175506 19175507 rs773766186 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175510 19175511 rs372168375 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19175517 19175518 rs563001470 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19175528 19175529 rs149450602 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19175529 19175530 rs866191571 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19175538 19175539 rs376696728 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19175555 19175556 rs537873050 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175561 19175562 rs530192356 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19175623 19175624 rs143959300 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19175632 19175633 rs148626792 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19175641 19175642 rs370048518 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19175697 19175698 rs77466728 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 731 chr21 19175722 19175723 rs868670319 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19175737 19175738 rs577700755 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19175741 19175742 rs143798997 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 C,T, 4931.000000,77.000000, 0.984625,0.015375, maf-5-some-pop 731 chr21 19175778 19175779 rs767534991 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175781 19175782 rs111695973 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19175834 19175835 rs193228207 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19175842 19175842 rs774502129 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 731 chr21 19175848 19175849 rs112201059 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19175852 19175853 rs553930549 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19175870 19175871 rs568950036 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19175877 19175878 rs756386727 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175924 19175925 rs764954843 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175926 19175927 rs750223015 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19175927 19175928 rs532235841 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 731 chr21 19175994 19175995 rs768921015 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 731 chr21 19176006 19176007 rs560684777 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19176032 19176033 rs34336591 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 731 chr21 19176038 19176039 rs536012820 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19176066 19176067 rs554371988 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176075 19176076 rs375111824 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19176077 19176078 rs529686086 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19176087 19176088 rs566414782 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176094 19176095 rs74684898 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19176100 19176101 rs115306946 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 731 chr21 19176116 19176117 rs577116157 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19176152 19176153 rs189564197 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19176153 19176154 rs754476695 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176186 19176187 rs556346177 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176238 19176239 rs181579124 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19176279 19176280 rs780913038 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176284 19176285 rs542417714 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19176311 19176312 rs184719605 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19176321 19176322 rs116765957 0 + A A A/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 731 chr21 19176338 19176339 rs747784752 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176352 19176353 rs189673640 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19176362 19176363 rs865908336 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19176389 19176390 rs564812483 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19176418 19176419 rs767632397 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19176449 19176450 rs181316288 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19176452 19176453 rs17757118 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 12 1000GENOMES,BL,CHURCH_CG54K,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 62.000000,4946.000000, 0.012380,0.987620, maf-5-some-pop 731 chr21 19176473 19176474 rs568837134 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176489 19176490 rs199788971 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 731 chr21 19176498 19176499 rs773675835 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176530 19176531 rs529773677 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176584 19176585 rs749689245 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176585 19176586 rs144543355 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176630 19176631 rs113014017 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19176633 19176634 rs151110344 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19176649 19176650 rs771251441 0 + C C A/C/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176651 19176652 rs374594991 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19176669 19176669 rs771031972 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176705 19176705 rs774367841 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176718 19176719 rs185950636 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176718 19176720 rs768573031 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176720 19176721 rs552146522 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176722 19176723 rs114709266 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19176743 19176744 rs756056386 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19176787 19176788 rs537822094 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176804 19176805 rs542871249 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176833 19176834 rs190868828 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19176840 19176841 rs775561617 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176908 19176908 rs549295240 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 731 chr21 19176915 19176916 rs576432483 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19176916 19176917 rs77490923 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19176940 19176941 rs764331310 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19176972 19176973 rs763898829 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19176984 19176985 rs750134764 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177009 19177010 rs536003281 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177029 19177030 rs554313829 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19177034 19177035 rs181010943 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177071 19177072 rs758188698 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177107 19177108 rs757059361 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19177137 19177138 rs766124834 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177208 19177209 rs778854350 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19177223 19177224 rs545005055 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19177228 19177229 rs762265571 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 731 chr21 19177242 19177243 rs546395839 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177287 19177288 rs751508616 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177290 19177291 rs868689812 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19177329 19177330 rs564911479 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177339 19177340 rs780788035 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177357 19177358 rs564598001 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177358 19177359 rs112648929 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19177396 19177397 rs111802814 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19177410 19177411 rs191046008 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19177416 19177417 rs529735800 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177473 19177474 rs779589962 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19177481 19177482 rs547832996 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177500 19177501 rs796724289 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19177511 19177512 rs547176435 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19177562 19177563 rs755783011 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177620 19177621 rs777547592 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177628 19177629 rs2824498 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.376989 0.215346 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1262.000000,3746.000000, 0.251997,0.748003, maf-5-some-pop 731 chr21 19177650 19177650 rs35459899 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19177673 19177674 rs182872746 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177719 19177719 rs71333595 0 + - - -/C genomic insertion unknown 0.5 0 intron between 1 1 HUMANGENOME_JCVI, 2 -,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19177754 19177755 rs768248248 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19177774 19177775 rs537299945 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19177783 19177784 rs557643821 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19177786 19177787 rs373260591 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 731 chr21 19177790 19177791 rs867342647 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19177828 19177829 rs570628797 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177859 19177860 rs538173668 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19177865 19177866 rs549240523 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19177873 19177874 rs549907247 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177893 19177894 rs568419517 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19177909 19177910 rs374830887 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19177932 19177933 rs574291944 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19177933 19177934 rs187369417 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19177940 19177941 rs554276937 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19177942 19177943 rs117382322 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19177948 19177949 rs539624171 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19177971 19177972 rs569189337 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19177974 19177975 rs371684246 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19177989 19177990 rs558366518 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19177994 19177995 rs772574066 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178027 19178028 rs775506567 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178045 19178046 rs576655411 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19178091 19178092 rs760766065 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178114 19178115 rs768770878 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178178 19178179 rs145763701 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,T, 4980.000000,28.000000, 0.994409,0.005591, 731 chr21 19178184 19178185 rs562045994 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178248 19178249 rs376378764 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19178260 19178261 rs762005636 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178276 19178277 rs552975956 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19178288 19178289 rs778097157 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19178297 19178298 rs201435862 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19178298 19178299 rs199713805 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 731 chr21 19178298 19178298 rs5842662 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.209997 0.246779 intron between 1 MixedObserved 16 1000GENOMES,BGI,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 597.000000,4411.000000, 0.119209,0.880791, maf-5-some-pop 731 chr21 19178299 19178300 rs77397087 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BGI, 0 731 chr21 19178329 19178330 rs369613029 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19178357 19178360 rs745624455 0 + ATA ATA -/ATA genomic deletion by-cluster 0 0 intron range 1 3 HAMMER_LAB,PADH-LAB_SPU,SSMP, 0 731 chr21 19178364 19178367 rs369880320 0 + TAA TAA -/TAA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TISHKOFF, 0 731 chr21 19178364 19178365 rs541439376 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178385 19178386 rs141696174 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19178387 19178388 rs751321280 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178426 19178427 rs80018068 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 731 chr21 19178455 19178458 rs572182840 0 + CTC CTC -/CTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,CTC, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19178468 19178469 rs115505564 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 731 chr21 19178502 19178503 rs572983331 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19178516 19178517 rs147060578 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 731 chr21 19178544 19178545 rs376937717 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19178548 19178549 rs774765868 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19178576 19178577 rs191255230 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178579 19178580 rs183057634 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19178580 19178581 rs138865490 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 731 chr21 19178583 19178584 rs571355586 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19178619 19178620 rs534253119 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19178628 19178629 rs568381749 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178693 19178694 rs141313447 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 5 1000GENOMES,DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19178761 19178762 rs755656363 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178778 19178779 rs7281283 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.117188 0.211804 intron exact 1 17 1000GENOMES,BCM_SSAHASNP,BGI,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 313.000000,4695.000000, 0.062500,0.937500, maf-5-some-pop 731 chr21 19178806 19178807 rs566162978 0 + T T C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178816 19178817 rs539964445 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178827 19178828 rs10719382 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.084364 0.187256 intron exact 1 16 1000GENOMES,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 4787.000000,221.000000, 0.955871,0.044129, maf-5-some-pop 731 chr21 19178836 19178837 rs397866414 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 ABI, 0 731 chr21 19178836 19178837 rs869247954 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 731 chr21 19178837 19178838 rs201382237 0 - T T A/C genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 731 chr21 19178839 19178840 rs17002099 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.065587 0.168795 intron exact 1 8 1000GENOMES,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 170.000000,4838.000000, 0.033946,0.966054, maf-5-some-pop 731 chr21 19178848 19178849 rs570184787 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19178850 19178851 rs756876213 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19178899 19178900 rs537256075 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19178909 19178910 rs555606537 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19178918 19178919 rs574015945 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178920 19178921 rs111961534 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19178939 19178940 rs541400465 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19178984 19178985 rs147016275 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 731 chr21 19178998 19178999 rs779271735 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179001 19179002 rs148050914 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179048 19179049 rs374714663 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19179085 19179086 rs545928677 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179118 19179119 rs564038064 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179129 19179130 rs556424367 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179131 19179132 rs28715752 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 731 chr21 19179141 19179141 rs34197757 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19179186 19179187 rs77814647 0 + C C A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19179188 19179189 rs78664457 0 + A A A/C genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 731 chr21 19179203 19179204 rs377429726 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19179212 19179213 rs543666217 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179220 19179221 rs561942069 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19179221 19179222 rs529239452 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179229 19179229 rs765998674 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179254 19179255 rs547804311 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179255 19179256 rs780513921 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179268 19179269 rs544121775 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19179270 19179271 rs2824499 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.366473 0.221211 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3798.000000,1210.000000, 0.758387,0.241613, maf-5-some-pop,maf-5-all-pops,genotype-conflict 731 chr21 19179280 19179281 rs768715595 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179284 19179285 rs776630503 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179287 19179288 rs112531048 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19179319 19179320 rs75124977 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19179366 19179367 rs764246438 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19179375 19179376 rs112159594 0 + T T G/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19179392 19179393 rs774150281 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179402 19179403 rs570067022 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19179402 19179403 rs751042022 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179411 19179412 rs537622695 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19179452 19179453 rs374045094 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19179459 19179460 rs243554 0 - G G A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.109461 0.206758 intron exact 1 16 1000GENOMES,ABI,BCM-HGSC-SUB,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,C, 291.000000,4717.000000, 0.058107,0.941893, maf-5-some-pop 731 chr21 19179460 19179461 rs567600845 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179472 19179473 rs535023963 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179474 19179475 rs553346197 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179492 19179493 rs187750647 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19179510 19179511 rs113803384 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19179511 19179512 rs760754681 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179512 19179513 rs141632986 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179521 19179522 rs557809136 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19179523 19179524 rs576087984 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179537 19179538 rs753292730 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179545 19179546 rs756895555 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179547 19179548 rs543627295 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19179598 19179600 rs376441714 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 731 chr21 19179635 19179635 rs35139349 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19179654 19179655 rs561904474 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179670 19179671 rs529200844 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179697 19179698 rs150496541 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179723 19179724 rs559396689 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19179748 19179749 rs533323464 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19179772 19179773 rs750125001 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179824 19179825 rs551506755 0 + G G G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19179826 19179827 rs192223364 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19179828 19179829 rs530943835 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179829 19179830 rs368176997 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19179831 19179832 rs200636976 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19179835 19179836 rs371193072 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19179836 19179837 rs201850827 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19179842 19179843 rs549152984 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179846 19179847 rs758730129 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179847 19179848 rs780462589 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179856 19179857 rs747498125 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179869 19179870 rs138378810 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 731 chr21 19179870 19179871 rs183952576 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19179884 19179885 rs73315646 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.171057 0.237209 intron exact 1 16 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 473.000000,4535.000000, 0.094449,0.905551, maf-5-some-pop 731 chr21 19179895 19179896 rs141681228 0 + G G C/G/T genomic single by-frequency,by-1000genomes 0.001596 0.028217 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 3 C,G,T, 2.000000,5004.000000,2.000000, 0.000399,0.999201,0.000399, 731 chr21 19179904 19179905 rs539400270 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179934 19179935 rs773279958 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19179950 19179951 rs113591866 0 + C C C/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19179971 19179972 rs571954556 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19179978 19179979 rs576078370 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19180001 19180002 rs779537155 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19180037 19180038 rs116205357 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19180054 19180055 rs555506327 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19180073 19180074 rs573839131 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180074 19180075 rs146208793 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19180080 19180081 rs751251194 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19180084 19180085 rs866703864 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19180090 19180091 rs754391415 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19180094 19180095 rs760625900 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180103 19180104 rs139720128 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19180105 19180106 rs796367045 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19180182 19180183 rs144370936 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19180233 19180234 rs776159054 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180234 19180235 rs761206475 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180245 19180247 rs560842014 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180248 19180250 rs771487752 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19180251 19180252 rs779227620 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19180275 19180276 rs1602143 0 - C C A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.383439 0.21141 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 22 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3713.000000,1295.000000, 0.741414,0.258586, maf-5-some-pop 731 chr21 19180276 19180277 rs12627705 0 + G G A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499234 0.019554 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2406.000000,2602.000000, 0.480431,0.519569, maf-5-some-pop,maf-5-all-pops 731 chr21 19180290 19180291 rs530907450 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180297 19180298 rs562786179 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180304 19180305 rs549017706 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19180351 19180352 rs372338586 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180397 19180398 rs528636416 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19180476 19180477 rs113507688 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, 2 C,T, 4959.000000,49.000000, 0.990216,0.009784, 731 chr21 19180477 19180478 rs1844415 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.393803 0.204501 intron exact 1 22 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3658.000000,1350.000000, 0.730431,0.269569, maf-5-some-pop 731 chr21 19180509 19180510 rs539004451 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19180520 19180521 rs751923764 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180535 19180536 rs28896170 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 731 chr21 19180564 19180566 rs543901129 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AG, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19180572 19180573 rs148784949 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19180584 19180585 rs187892429 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180597 19180598 rs776905785 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19180598 19180599 rs192534625 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19180599 19180600 rs755469930 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180656 19180657 rs555465795 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19180664 19180665 rs781531716 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180675 19180676 rs573800558 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19180687 19180688 rs534787249 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19180718 19180719 rs552925642 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19180730 19180731 rs748732096 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180750 19180751 rs577857024 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19180752 19180753 rs367779833 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180756 19180757 rs756147406 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180758 19180759 rs563600293 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19180766 19180767 rs777970938 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180776 19180777 rs575195200 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180783 19180784 rs112313080 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19180787 19180788 rs545626755 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 731 chr21 19180793 19180794 rs561027638 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19180805 19180806 rs528600411 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19180834 19180835 rs540812685 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19180842 19180843 rs57210350 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,WEILL_CORNELL_DGM, 2 G,T, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 731 chr21 19180854 19180855 rs868553843 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19180856 19180857 rs746824435 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180876 19180877 rs768544392 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180887 19180888 rs532744479 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180895 19180896 rs550953196 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180905 19180906 rs184384241 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19180909 19180910 rs776399982 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19180944 19180945 rs142455878 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19180948 19180949 rs112910133 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19180969 19180970 rs567353175 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19180972 19180973 rs534457110 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19180983 19180984 rs553126841 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19181018 19181019 rs571305992 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19181038 19181039 rs371502494 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19181074 19181075 rs764639346 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181084 19181085 rs538835051 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181100 19181101 rs556949665 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181126 19181127 rs575188520 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181131 19181132 rs190055292 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19181138 19181139 rs554586815 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181200 19181201 rs1844414 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.382279 0.212137 intron exact 1 20 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3719.000000,1289.000000, 0.742612,0.257388, maf-5-some-pop 731 chr21 19181215 19181216 rs762522255 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181227 19181228 rs181179455 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19181228 19181229 rs565389279 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19181250 19181251 rs759792022 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181257 19181258 rs532564615 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181259 19181260 rs151258827 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19181278 19181279 rs184661125 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181283 19181284 rs530451990 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181303 19181304 rs548990580 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181316 19181317 rs189981723 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19181326 19181327 rs567314615 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181330 19181331 rs767994620 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181357 19181358 rs528090264 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181363 19181364 rs753135366 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181369 19181370 rs559003267 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19181384 19181385 rs180806183 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19181392 19181393 rs777933789 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181399 19181400 rs139858861 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 731 chr21 19181400 19181401 rs185253081 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181424 19181425 rs754729630 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181455 19181456 rs556774296 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181483 19181484 rs111582660 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19181491 19181495 rs574061002 0 + AACT AACT -/AACT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AACT, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19181559 19181560 rs112367719 0 + C C A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19181613 19181614 rs57491308 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,TISHKOFF, 2 C,G, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 731 chr21 19181640 19181641 rs554447540 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181643 19181644 rs572862899 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19181664 19181665 rs540639825 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19181721 19181722 rs749536288 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19181739 19181740 rs189139632 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19181750 19181751 rs577294987 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19181814 19181815 rs117477236 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19181838 19181839 rs375587586 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19181853 19181854 rs575204436 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19181854 19181855 rs181899367 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19181972 19181973 rs377127315 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19181981 19181982 rs766112050 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 731 chr21 19181991 19181992 rs8126711 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WI_SSAHASNP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182024 19182025 rs191665091 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19182037 19182038 rs183769594 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182068 19182069 rs781097931 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19182123 19182124 rs747974668 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19182145 19182146 rs564815443 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182162 19182163 rs186326445 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19182221 19182222 rs550360483 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182230 19182234 rs757731334 0 + CAGA CAGA -/CAGA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19182245 19182246 rs369819790 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19182267 19182268 rs568665160 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19182287 19182288 rs772666356 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19182296 19182297 rs9653740 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SC_SNP, 0 731 chr21 19182331 19182332 rs565454230 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19182345 19182346 rs527911360 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19182387 19182388 rs770471958 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19182435 19182436 rs566781815 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19182442 19182442 rs559983076 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19182487 19182488 rs147686795 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19182606 19182607 rs558943574 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182642 19182643 rs369861976 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19182679 19182680 rs567636109 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182695 19182696 rs538389409 0 + A A A/G/T genomic single by-frequency,by-1000genomes 0.002793 0.037282 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,HAMMER_LAB, 3 A,G,T, 5001.000000,4.000000,3.000000, 0.998602,0.000799,0.000599, 731 chr21 19182731 19182732 rs536789855 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19182796 19182797 rs575042807 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182809 19182810 rs556389651 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19182838 19182839 rs746399926 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19182853 19182854 rs560737686 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19182868 19182869 rs572735265 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19182880 19182881 rs547982629 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19182881 19182882 rs191625075 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19182904 19182905 rs150338883 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182955 19182956 rs182109457 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 731 chr21 19182985 19182986 rs113982534 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19182990 19182991 rs111501849 0 + T T C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19182995 19182996 rs61323262 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.36606 0.221428 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1208.000000,3800.000000, 0.241214,0.758786, maf-5-some-pop,maf-5-all-pops 731 chr21 19183001 19183002 rs866517654 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19183002 19183004 rs146939880 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron range 1 3 1000GENOMES,LUNTER,SSMP, 2 -,AG, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19183005 19183006 rs377146090 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19183031 19183032 rs761047219 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19183064 19183065 rs764722302 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19183066 19183067 rs548007836 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19183078 19183079 rs754447116 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19183096 19183097 rs370612404 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19183108 19183109 rs780533596 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19183110 19183111 rs113661906 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19183122 19183123 rs534136326 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19183158 19183159 rs12627589 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19183257 19183258 rs145092156 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19183288 19183289 rs538250400 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19183303 19183304 rs750598019 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19183318 19183319 rs747181934 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19183340 19183341 rs556658709 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19183389 19183390 rs117298397 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4988.000000,20.000000, 0.996006,0.003994, 731 chr21 19183466 19183469 rs141432722 0 + TTT TTT -/TTT genomic deletion by-cluster,by-1000genomes 0.056607 0.158427 intron range 1 7 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,TTT, 146.000000,4862.000000, 0.029153,0.970847, 731 chr21 19183471 19183472 rs769030854 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 731 chr21 19183484 19183485 rs192410751 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19183489 19183490 rs149123742 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19183504 19183505 rs571980661 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19183521 19183522 rs183472763 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19183526 19183527 rs572649491 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19183559 19183560 rs189170439 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19183567 19183568 rs561215606 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP, 2 A,G, 51.000000,4957.000000, 0.010184,0.989816, maf-5-some-pop 731 chr21 19183579 19183580 rs192872559 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19183607 19183608 rs540556082 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19183655 19183656 rs796247496 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19183703 19183704 rs769667443 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19183755 19183756 rs185448860 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19183760 19183761 rs143179648 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19183766 19183767 rs529771573 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19183798 19183799 rs375059453 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,HAMMER_LAB,PADH-LAB_SPU,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19183839 19183840 rs540648671 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19183849 19183850 rs527494187 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19183867 19183868 rs189556470 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19183878 19183879 rs138543622 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19183882 19183883 rs531709121 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19183907 19183910 rs745957649 0 + TAA TAA -/TAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19183910 19183911 rs368402376 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19183912 19183913 rs568558651 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19183935 19183936 rs536001327 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19183941 19183943 rs145882437 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron range 1 3 1000GENOMES,LUNTER,SSMP, 2 -,TG, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19183973 19183974 rs866770919 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19183976 19183977 rs560143352 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19184008 19184009 rs191689937 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19184009 19184010 rs748195817 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19184013 19184014 rs145369495 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19184047 19184048 rs539663577 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19184049 19184050 rs749293677 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19184075 19184076 rs532153517 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19184217 19184218 rs558405196 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19184253 19184254 rs545522366 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19184271 19184272 rs868800259 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19184301 19184302 rs770020585 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19184320 19184321 rs576358051 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19184328 19184329 rs562598810 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19184355 19184356 rs574442932 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19184365 19184366 rs183481530 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 0 731 chr21 19184426 19184427 rs188209334 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19184434 19184435 rs555778894 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19184449 19184450 rs866145514 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19184472 19184473 rs370899585 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19184518 19184519 rs373236398 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19184533 19184534 rs541859790 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19184580 19184581 rs770416979 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19184637 19184638 rs773930332 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19184647 19184648 rs759048031 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19184673 19184674 rs773230042 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19184708 19184709 rs113099503 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19184712 19184713 rs762955596 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19184731 19184732 rs543162373 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19184732 19184733 rs771789299 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19184781 19184782 rs560000719 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19184789 19184790 rs527446175 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19184790 19184791 rs775668899 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19184819 19184820 rs137917831 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19184826 19184827 rs564383451 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19184830 19184831 rs111916653 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19184841 19184842 rs111263393 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.170084 0.236883 intron exact 1 15 1000GENOMES,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 470.000000,4538.000000, 0.093850,0.906150, maf-5-some-pop 731 chr21 19184847 19184848 rs774262017 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19184848 19184849 rs759090929 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19184854 19184855 rs568417678 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19184878 19184879 rs142961940 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 731 chr21 19184883 19184884 rs547837609 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19184895 19184896 rs777271610 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19184900 19184901 rs566065383 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19184922 19184923 rs865872128 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19184953 19184954 rs531800008 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19185014 19185015 rs545267053 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19185049 19185050 rs558104049 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19185057 19185058 rs181785664 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19185069 19185070 rs537393095 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19185073 19185074 rs555641293 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19185076 19185077 rs752378221 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19185105 19185106 rs574051219 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19185111 19185112 rs187098064 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19185112 19185113 rs530328992 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 731 chr21 19185129 19185130 rs190761425 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19185133 19185134 rs202097363 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19185134 19185135 rs199971364 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19185135 19185135 rs11368954 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.384017 0.211044 intron between 1 10 1000GENOMES,BILGI_BIOE,BL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,A, 3710.000000,1298.000000, 0.740815,0.259185, maf-5-some-pop 731 chr21 19185140 19185141 rs150679266 0 + A A A/C genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 A,C, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19185144 19185144 rs398121471 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 GMI, 0 731 chr21 19185221 19185222 rs546890411 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19185261 19185262 rs545961185 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19185265 19185266 rs747993335 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19185308 19185309 rs758505367 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19185333 19185334 rs564321282 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19185387 19185388 rs755562580 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19185396 19185397 rs766643278 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19185432 19185433 rs751775500 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19185456 19185457 rs566866721 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19185562 19185563 rs576307523 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19185579 19185580 rs117955660 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19185587 19185588 rs755902267 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19185594 19185595 rs561978445 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19185595 19185596 rs777605152 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19185693 19185694 rs529262197 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19185729 19185730 rs547504755 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19185740 19185741 rs139872141 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19185745 19185746 rs533304022 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19185876 19185877 rs181722114 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19185884 19185885 rs549726405 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19185891 19185892 rs749169217 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19185895 19185896 rs75760163 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19185912 19185913 rs569865263 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19185964 19185965 rs537254886 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19186006 19186007 rs549230579 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19186011 19186012 rs745406773 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186025 19186026 rs567639930 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19186029 19186030 rs535407650 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19186051 19186052 rs73315655 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.171057 0.237209 intron exact 1 16 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4535.000000,473.000000, 0.905551,0.094449, maf-5-some-pop 731 chr21 19186061 19186062 rs113016128 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19186075 19186076 rs775179187 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186081 19186082 rs539116458 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19186152 19186153 rs746724234 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186157 19186158 rs528020701 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19186205 19186206 rs375055728 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19186237 19186238 rs243555 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.210605 0.246877 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4409.000000,599.000000, 0.880391,0.119609, maf-5-some-pop 731 chr21 19186251 19186252 rs576270089 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19186304 19186305 rs759000559 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19186321 19186322 rs368480975 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 LUNTER, 0 731 chr21 19186321 19186321 rs780256970 0 + - - -/A genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 EVA_DECODE, 0 731 chr21 19186341 19186342 rs773080796 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186355 19186356 rs186990874 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19186358 19186359 rs777148664 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186405 19186406 rs561944052 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19186433 19186434 rs573888310 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19186445 19186446 rs541408941 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19186447 19186448 rs374521071 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19186450 19186451 rs149440857 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19186480 19186481 rs762343424 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186584 19186585 rs190091366 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19186613 19186614 rs12627264 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.361474 0.223771 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3822.000000,1186.000000, 0.763179,0.236821, maf-5-some-pop 731 chr21 19186692 19186692 rs567288775 0 + - - -/TT genomic insertion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 2 1000GENOMES,SSIP, 2 -,TT, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19186723 19186724 rs773113705 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186736 19186737 rs563455037 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19186768 19186769 rs763064047 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186777 19186778 rs530980711 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19186811 19186812 rs766406975 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186843 19186844 rs549193515 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19186844 19186845 rs530170051 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19186911 19186912 rs113373955 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19186915 19186916 rs376998827 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19186940 19186941 rs796933911 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19186950 19186951 rs540492908 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19186951 19186952 rs751795741 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186969 19186970 rs569758576 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19186985 19186986 rs763813861 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19186991 19186996 rs796648921 0 + AAACA AAACA -/AAACA genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 731 chr21 19186992 19186997 rs370749659 0 + AACAA AACAA -/AACAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 731 chr21 19187031 19187032 rs547275998 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187037 19187038 rs565499378 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19187038 19187039 rs550305783 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19187055 19187056 rs144829406 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19187077 19187078 rs539122368 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19187078 19187079 rs753667935 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187107 19187108 rs757138537 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187171 19187172 rs557859088 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19187173 19187174 rs552422417 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19187174 19187175 rs8128917 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.066703 0.170006 intron exact 1 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 173.000000,4835.000000, 0.034545,0.965455, maf-5-some-pop 731 chr21 19187189 19187190 rs117868861 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19187191 19187192 rs748398413 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19187197 19187197 rs769932807 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 731 chr21 19187220 19187221 rs182735949 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19187221 19187222 rs139897153 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19187250 19187251 rs553239170 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187269 19187270 rs565851940 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19187299 19187300 rs545022851 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187321 19187322 rs563419678 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19187365 19187366 rs757922975 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187388 19187389 rs530945737 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19187418 19187422 rs557471545 0 + CTTT CTTT -/CTTT genomic deletion by-frequency,by-1000genomes 0.008351 0.064078 intron range 1 1 1000GENOMES, 2 -,CTTT, 21.000000,4987.000000, 0.004193,0.995807, 731 chr21 19187435 19187436 rs779487886 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187439 19187440 rs369603286 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19187536 19187537 rs185207588 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19187575 19187576 rs78322160 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 731 chr21 19187578 19187579 rs528695293 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187589 19187590 rs114518885 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19187592 19187593 rs145332590 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19187596 19187597 rs377252513 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19187620 19187621 rs189761559 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19187621 19187622 rs551432980 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187659 19187660 rs75628966 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 C,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19187668 19187669 rs182420092 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19187678 19187679 rs537191908 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187679 19187680 rs147695522 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19187680 19187682 rs773986988 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19187701 19187702 rs567306873 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19187708 19187709 rs534829620 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19187709 19187710 rs552962092 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19187716 19187717 rs577895626 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19187740 19187741 rs541581015 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19187754 19187755 rs534485291 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19187760 19187761 rs748541696 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187814 19187815 rs544986029 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19187824 19187825 rs773736179 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187843 19187844 rs188736570 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187887 19187888 rs575330329 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187888 19187888 rs150818788 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.070413 0.17392 intron between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,C, 4825.000000,183.000000, 0.963458,0.036541, maf-5-some-pop 731 chr21 19187901 19187902 rs763431318 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187909 19187910 rs770988318 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187939 19187940 rs542672277 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19187973 19187974 rs561450884 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19187981 19187981 rs113135854 0 + - - -/T genomic insertion unknown 0.5 0 intron between 1 1 BUSHMAN, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19187982 19187983 rs774423012 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19187987 19187988 rs140764846 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 52.000000,4956.000000, 0.010383,0.989617, 731 chr21 19187999 19188001 rs139238662 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.067817 0.1712 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,HAMMER_LAB,LUNTER, 2 -,AG, 176.000000,4832.000000, 0.035144,0.964856, maf-5-some-pop 731 chr21 19188036 19188037 rs767312555 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19188069 19188070 rs540849734 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188079 19188080 rs759719452 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19188107 19188108 rs565426446 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188140 19188141 rs532899451 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188164 19188165 rs558745322 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19188165 19188166 rs565820713 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19188182 19188183 rs377228834 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19188188 19188189 rs551395792 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19188191 19188192 rs866677172 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19188207 19188208 rs767749803 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19188213 19188214 rs142338807 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19188218 19188219 rs530528637 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19188220 19188221 rs193299168 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19188237 19188238 rs567374859 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19188246 19188247 rs758280166 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19188271 19188272 rs534495819 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188321 19188322 rs554267439 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19188322 19188323 rs183236862 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19188339 19188340 rs111463714 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, 731 chr21 19188340 19188341 rs543075022 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19188355 19188356 rs753434234 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19188428 19188429 rs140820810 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19188462 19188463 rs556847836 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19188501 19188502 rs372594866 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19188522 19188523 rs575201224 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19188544 19188545 rs536268990 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19188576 19188577 rs763335391 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19188586 19188587 rs554745097 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188599 19188600 rs751146004 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19188623 19188624 rs554827283 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19188629 19188630 rs188690586 0 + G G C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188642 19188643 rs774059691 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19188673 19188674 rs540463798 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19188705 19188706 rs754624777 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19188709 19188710 rs111350688 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19188809 19188810 rs576556937 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19188812 19188813 rs577518532 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188821 19188822 rs373035259 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19188843 19188844 rs544877210 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188848 19188849 rs747839877 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19188894 19188895 rs146747087 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188896 19188897 rs76153162 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF, 2 A,C, 4947.000000,61.000000, 0.987819,0.012180, 731 chr21 19188914 19188915 rs548987913 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19188928 19188929 rs545179236 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19188941 19188942 rs73315657 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.085456 0.188216 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4784.000000,224.000000, 0.955272,0.044728, maf-5-some-pop 731 chr21 19188963 19188964 rs532702364 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19189057 19189058 rs373416060 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19189060 19189061 rs191532584 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19189106 19189107 rs546473139 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19189144 19189145 rs571062215 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19189163 19189164 rs774369851 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19189166 19189167 rs76917357 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 731 chr21 19189169 19189170 rs755339489 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19189190 19189191 rs550433864 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19189218 19189219 rs781696305 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19189239 19189240 rs568840202 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19189261 19189262 rs752965313 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19189299 19189300 rs370782953 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19189308 19189309 rs184061816 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19189327 19189328 rs573256300 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19189344 19189345 rs78104899 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,C, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19189360 19189361 rs574740048 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19189407 19189408 rs140242398 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 58.000000,4950.000000, 0.011582,0.988419, 731 chr21 19189430 19189431 rs145193245 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19189498 19189499 rs116597266 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19189511 19189511 rs34164879 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19189552 19189553 rs376430783 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19189555 19189556 rs563150742 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19189558 19189559 rs575244693 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19189572 19189573 rs542249452 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19189589 19189590 rs114210349 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 731 chr21 19189606 19189607 rs376130467 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19189609 19189610 rs541714473 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19189686 19189687 rs371588846 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19189724 19189725 rs78134726 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19189807 19189808 rs775686340 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19189812 19189813 rs561085493 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19189860 19189861 rs373651259 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19189921 19189922 rs533972919 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19189927 19189928 rs137882427 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19189944 19189945 rs57188592 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HGSV, 0 731 chr21 19189958 19189959 rs117672854 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 731 chr21 19189971 19189972 rs760866640 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19189977 19189978 rs765022350 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19189979 19189980 rs532154242 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19189984 19189985 rs550395169 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19189998 19189999 rs79155506 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 731 chr21 19190002 19190003 rs762906766 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190088 19190089 rs530053251 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19190094 19190095 rs770947008 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19190108 19190109 rs766442057 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190147 19190148 rs548193380 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19190181 19190181 rs550271445 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190194 19190195 rs566820426 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19190206 19190207 rs112797642 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, 2 A,C, 49.000000,4959.000000, 0.009784,0.990216, 731 chr21 19190215 19190216 rs751592348 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190228 19190229 rs559065002 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19190235 19190236 rs149494643 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19190261 19190262 rs754504217 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190294 19190295 rs9977491 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WUGSC_SSAHASNP, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19190306 19190306 rs202214417 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,EVA_DECODE, 0 731 chr21 19190311 19190312 rs184679757 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19190317 19190318 rs556836514 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19190326 19190327 rs570143351 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19190332 19190333 rs148358801 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19190336 19190337 rs752341912 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190355 19190356 rs112257596 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19190388 19190389 rs542461553 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19190401 19190402 rs755729282 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190416 19190417 rs554177461 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19190426 19190427 rs243556 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.216048 0.247684 intron exact 1 36 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4391.000000,617.000000, 0.876797,0.123203, maf-5-some-pop 731 chr21 19190433 19190434 rs539877469 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19190458 19190459 rs190209497 0 + C C A/C genomic single by-1000genomes 0.000017 0.002909 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 2.000000,123166.000000, 0.000016,0.999984, 731 chr21 19190463 19190464 rs537383166 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19190464 19190465 rs532117369 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000591 0.017183 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 37.000000,123341.000000, 0.000300,0.999700, 731 chr21 19190465 19190466 rs752705199 0 + G G A/G genomic single unknown 0.000017 0.002906 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,118413.000000, 0.000008,0.999992, 731 chr21 19190470 19190471 rs756627793 0 + A A A/G genomic single unknown 0.000017 0.002906 intron exact 1 1 EVA_EXAC, 2 A,G, 118437.000000,1.000000, 0.999992,0.000008, 731 chr21 19190479 19190480 rs556991631 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001751 0.029538 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_EXAC,SSIP, 2 A,G, 123573.000000,111.000000, 0.999103,0.000897, 731 chr21 19190494 19190495 rs749685390 0 + T T C/T genomic single unknown 0.000017 0.002896 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,119205.000000, 0.000008,0.999992, 731 chr21 19190500 19190501 rs562299534 0 + G G C/G genomic single by-frequency,by-1000genomes 0.00005 0.005008 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 6.000000,124590.000000, 0.000048,0.999952, 731 chr21 19190508 19190509 rs749642028 0 + C C A/C genomic single unknown 0.000017 0.002886 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,120027.000000, 0.000008,0.999992, 731 chr21 19190515 19190516 rs745523225 0 + A A A/G genomic single unknown 0.000017 0.002883 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120289.000000,1.000000, 0.999992,0.000008, 731 chr21 19190523 19190524 rs749592907 0 + C C C/T genomic single unknown 0 0 missense exact 1 MixedObserved 1 EVA_MGP, 0 731 chr21 19190523 19190528 rs758559992 0 + CAAAA CAAAA -/CAAAA genomic deletion unknown 0.000017 0.002881 frameshift range 1 MixedObserved 1 EVA_EXAC, 2 -,CAAAA, 1.000000,120443.000000, 0.000008,0.999992, 731 chr21 19190537 19190538 rs771551639 0 + C C C/T genomic single unknown 0 0 missense exact 1 1 EVA_EXAC, 0 731 chr21 19190538 19190541 rs764195619 0 + AGA AGA -/AGA genomic deletion unknown 0.000017 0.002879 cds-indel range 1 1 EVA_EXAC, 2 -,AGA, 1.000000,120624.000000, 0.000008,0.999992, 731 chr21 19190545 19190546 rs775149503 0 + G G A/G genomic single unknown 0.000017 0.002879 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120679.000000, 0.000008,0.999992, 731 chr21 19190550 19190554 rs751753325 0 + TTTC TTTC -/TTTC genomic deletion by-frequency 0.000033 0.004071 frameshift range 1 1 EVA_EXAC, 2 -,TTTC, 2.000000,120680.000000, 0.000017,0.999983, 731 chr21 19190556 19190560 rs757480817 0 + TGTC TGTC -/TGTC genomic deletion by-frequency 0.000033 0.004071 frameshift range 1 1 EVA_EXAC, 2 -,TGTC, 2.000000,120688.000000, 0.000017,0.999983, 731 chr21 19190565 19190566 rs746462969 0 + C C C/T genomic single by-frequency 0.00005 0.004985 missense exact 1 1 EVA_EXAC, 2 C,T, 120693.000000,3.000000, 0.999975,0.000025, 731 chr21 19190585 19190586 rs768741764 0 + A A A/G genomic single unknown 0.000017 0.002879 missense exact 1 1 EVA_EXAC, 2 A,G, 120663.000000,1.000000, 0.999992,0.000008, 731 chr21 19190587 19190588 rs776674703 0 + G G A/G genomic single unknown 0.000017 0.002879 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120659.000000, 0.000008,0.999992, 731 chr21 19190592 19190593 rs866334228 0 + C C A/C genomic single unknown 0 0 missense exact 1 1 ILLUMINA, 0 731 chr21 19190598 19190599 rs371978426 0 + T T C/T genomic single by-cluster,by-frequency 0.000033 0.004072 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,120586.000000, 0.000017,0.999983, 731 chr21 19190606 19190607 rs765065209 0 + A A A/G genomic single unknown 0.000017 0.002881 missense exact 1 1 EVA_EXAC, 2 A,G, 120443.000000,1.000000, 0.999992,0.000008, 731 chr21 19190620 19190621 rs141507992 0 + C C C/G genomic single by-cluster,by-1000genomes 0.0001 0.007071 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 124973.000000,7.000000, 0.999944,0.000056, 731 chr21 19190629 19190630 rs759807919 0 + G G C/G genomic single unknown 0.000017 0.002893 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,119451.000000, 0.000008,0.999992, 731 chr21 19190634 19190635 rs767668165 0 + T T C/T genomic single unknown 0.000017 0.002898 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,119099.000000, 0.000008,0.999992, 731 chr21 19190643 19190644 rs779754411 0 + T T -/T genomic deletion unknown 0.000017 0.002903 splice-3 exact 1 1 EVA_EXAC, 2 -,T, 1.000000,118617.000000, 0.000008,0.999992, 731 chr21 19190644 19190645 rs752796874 0 + A A A/G genomic single unknown 0.000017 0.002905 intron exact 1 1 EVA_EXAC, 2 A,G, 118457.000000,1.000000, 0.999992,0.000008, 731 chr21 19190655 19190656 rs756147495 0 + G G A/G genomic single unknown 0.000017 0.002912 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,117945.000000, 0.000008,0.999992, 731 chr21 19190664 19190665 rs764625877 0 + A A A/G genomic single unknown 0.000017 0.002917 intron exact 1 1 EVA_EXAC, 2 A,G, 117557.000000,1.000000, 0.999991,0.000009, 731 chr21 19190667 19190668 rs754349803 0 + T T G/T genomic single unknown 0.000017 0.002919 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,117377.000000, 0.000009,0.999991, 731 chr21 19190672 19190673 rs757689929 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190684 19190685 rs757622075 0 + C C C/G genomic single unknown 0.000017 0.002941 intron exact 1 1 EVA_EXAC, 2 C,G, 115641.000000,1.000000, 0.999991,0.000009, 731 chr21 19190685 19190686 rs779333420 0 + T T C/T genomic single unknown 0.000017 0.002941 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,115605.000000, 0.000009,0.999991, 731 chr21 19190686 19190687 rs746155937 0 + G G G/T genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 G,T, 120809.000000,1.000000, 0.999992,0.000008, 731 chr21 19190698 19190699 rs548432830 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19190733 19190734 rs868798742 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19190735 19190736 rs566673381 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19190758 19190759 rs746443071 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190776 19190777 rs182435759 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19190778 19190779 rs185042576 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19190797 19190798 rs150909465 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19190800 19190801 rs775559459 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190830 19190831 rs760297934 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19190842 19190843 rs77135606 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 731 chr21 19190850 19190851 rs768335042 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19190859 19190860 rs140149170 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19190883 19190884 rs768790428 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190905 19190906 rs796568417 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19190968 19190969 rs568598792 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19190979 19190980 rs534570249 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190993 19190994 rs548475401 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190994 19190995 rs766313650 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19190996 19190997 rs79134549 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 731 chr21 19190997 19190998 rs575947632 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19191016 19191017 rs113590349 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19191031 19191032 rs189161836 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19191049 19191050 rs554425798 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19191053 19191054 rs368180644 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19191096 19191097 rs143834442 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19191102 19191103 rs567686537 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19191130 19191131 rs539833807 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191144 19191145 rs558179145 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191162 19191163 rs576790923 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19191171 19191172 rs181691709 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,T, 14.000000,4994.000000, 0.002796,0.997204, 731 chr21 19191173 19191174 rs543866006 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19191211 19191212 rs112855946 0 + C C C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 1.000000, 1.000000, 731 chr21 19191216 19191217 rs761334608 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19191255 19191256 rs372346655 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19191269 19191270 rs536626122 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19191291 19191292 rs541683142 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191304 19191305 rs560377624 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191307 19191308 rs556570962 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19191315 19191316 rs752182920 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19191316 19191317 rs2298674 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.399432 0.200425 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 3627.000000,1381.000000, 0.724241,0.275759, maf-5-some-pop,maf-5-all-pops 731 chr21 19191328 19191329 rs545865357 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19191329 19191330 rs559147337 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19191333 19191334 rs753282946 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19191369 19191370 rs552601779 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19191413 19191414 rs867966561 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19191416 19191417 rs868070480 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19191505 19191506 rs185646428 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191520 19191521 rs531746273 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191552 19191553 rs867020989 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19191590 19191591 rs550263304 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19191611 19191612 rs368584625 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19191629 19191630 rs764663937 0 + C C C/G genomic single unknown 0 0 untranslated-5 exact 1 1 EVA_DECODE, 0 731 chr21 19191635 19191635 rs149592791 0 + - - -/CC genomic insertion by-cluster,by-1000genomes 0 0 untranslated-5 between 1 2 1000GENOMES,LUNTER, 0 731 chr21 19191642 19191643 rs372887712 0 + C C A/C genomic single unknown 0 0 untranslated-5 exact 1 1 SSMP, 0 731 chr21 19191674 19191675 rs568489526 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 untranslated-5 exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19191682 19191683 rs536031752 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 untranslated-5 exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19191686 19191687 rs547716827 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 untranslated-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19191692 19191693 rs566361061 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 untranslated-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191693 19191694 rs868390547 0 + A A A/C genomic single unknown 0 0 untranslated-5 exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19191700 19191701 rs867023198 0 + C C C/T genomic single unknown 0 0 untranslated-5 exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19191704 19191705 rs111495779 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 BCM-HGSC-SUB, 0 731 chr21 19191726 19191727 rs539699727 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19191734 19191735 rs9653741 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.36315 0.222928 near-gene-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 19 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,KYUGEN,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 G,T, 3814.000000,1194.000000, 0.761581,0.238419, maf-5-some-pop 731 chr21 19191747 19191748 rs576398337 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19191758 19191759 rs753568171 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19191780 19191781 rs537472738 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191785 19191786 rs556199899 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191805 19191806 rs574479824 0 + G G C/G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19191809 19191810 rs541996710 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19191818 19191819 rs560135117 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19191822 19191823 rs760190978 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19191866 19191867 rs76336369 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 near-gene-5 exact 1 5 1000GENOMES,BUSHMAN,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 67.000000,4941.000000, 0.013379,0.986621, maf-5-some-pop 731 chr21 19191880 19191881 rs779309320 0 + G G G/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19191887 19191888 rs546078724 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19191907 19191908 rs564388011 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19191959 19191960 rs558837316 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19191990 19191991 rs550232734 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19192013 19192014 rs190408270 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 near-gene-5 exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 29.000000,4979.000000, 0.005791,0.994209, 731 chr21 19192029 19192030 rs780067492 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192033 19192034 rs529415319 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19192061 19192062 rs547874473 0 + T T G/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 18.000000,4990.000000, 0.003594,0.996406, 731 chr21 19192110 19192111 rs747081343 0 + T T G/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192143 19192144 rs561446588 0 + A A A/T genomic single unknown 0 0 near-gene-5 exact 1 1 JMKIDD_LAB, 0 731 chr21 19192159 19192160 rs767983801 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19192254 19192255 rs147257478 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 731 chr21 19192282 19192283 rs768830489 0 + C C A/C genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192296 19192297 rs776681871 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192313 19192314 rs867215037 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19192341 19192342 rs748466340 0 + A A A/C genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192346 19192347 rs770833440 0 + G G G/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192347 19192348 rs56165916 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.412583 0.189912 near-gene-5 exact 1 19 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1457.000000,3551.000000, 0.290935,0.709065, maf-5-some-pop,maf-5-all-pops 731 chr21 19192361 19192362 rs759509531 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192380 19192381 rs551633100 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19192401 19192402 rs369369993 0 + C C C/G genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 731 chr21 19192433 19192434 rs373065117 0 + C C C/G genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 731 chr21 19192437 19192438 rs753165290 0 + T T G/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19192480 19192484 rs368875012 0 + AGTT AGTT -/AGTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 near-gene-5 range 1 2 1000GENOMES,TISHKOFF, 2 -,AGTT, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19192481 19192482 rs796194951 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 PADH-LAB_SPU, 0 731 chr21 19192496 19192497 rs180845054 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19192516 19192517 rs796705289 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 HAMMER_LAB, 0 731 chr21 19192517 19192518 rs112803093 0 + T T C/T genomic single unknown 0.5 0 near-gene-5 exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19192535 19192536 rs561645931 0 + G G A/G/T genomic single by-cluster 0 0 near-gene-5 exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192545 19192546 rs537429809 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19192579 19192580 rs140701342 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 near-gene-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4976.000000,32.000000, 0.993610,0.006390, 731 chr21 19192580 19192581 rs574469450 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19192582 19192588 rs756531271 0 + AGAAAG AGAAAG -/AGAAAG genomic deletion by-cluster 0 0 near-gene-5 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192620 19192621 rs535156075 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19192665 19192666 rs575239995 0 + C C A/C genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 731 chr21 19192695 19192696 rs553839555 0 + T T A/G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19192704 19192705 rs763727405 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192723 19192724 rs572237025 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19192727 19192728 rs543823776 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19192768 19192769 rs765516562 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19192771 19192772 rs10446073 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.098085 0.198549 near-gene-5 exact 1 19 1000GENOMES,AFFY,BGI,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4749.000000,259.000000, 0.948283,0.051717, maf-5-some-pop 731 chr21 19192781 19192782 rs757294761 0 + T T G/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19192806 19192807 rs576444961 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19192812 19192813 rs186096504 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19192835 19192836 rs561888357 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19192849 19192850 rs529299936 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19192860 19192861 rs541134095 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19192863 19192864 rs559445397 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19192879 19192880 rs532649033 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19192894 19192895 rs149806896 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19192908 19192909 rs58871846 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 near-gene-5 exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 731 chr21 19192920 19192921 rs144720914 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 near-gene-5 exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19192954 19192955 rs549652531 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19192968 19192981 rs140027459 0 + TTCTACCCATCTT TTCTACCCATCTT -/TTCTACCCATCTT genomic deletion unknown 0 0 near-gene-5 range 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,TTCTACCCATCTT, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 731 chr21 19192971 19192984 rs374436734 0 + TACCCATCTTTTC TACCCATCTTTTC -/TACCCATCTTTTC genomic deletion unknown 0 0 near-gene-5 range 1 1 TISHKOFF, 0 731 chr21 19192978 19192979 rs567921522 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19193023 19193024 rs375231050 0 + A A A/C genomic single unknown 0 0 near-gene-5 exact 1 1 TISHKOFF, 0 731 chr21 19193042 19193043 rs373984481 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19193057 19193058 rs191819063 0 + A A A/C genomic single by-cluster,by-1000genomes 0 0 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 5008.000000,0.000000, 1.000000,0.000000, 731 chr21 19193074 19193075 rs79749037 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 near-gene-5 exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 731 chr21 19193086 19193087 rs539634311 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19193095 19193099 rs757543388 0 + CTTC CTTC -/CTTC genomic deletion by-cluster 0 0 near-gene-5 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193131 19193132 rs148670060 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19193151 19193154 rs777314099 0 + TTG TTG -/TTG genomic deletion by-cluster 0 0 near-gene-5 range 1 2 PADH-LAB_SPU,SSMP, 0 731 chr21 19193167 19193168 rs75391311 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 near-gene-5 exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 731 chr21 19193176 19193177 rs184106185 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19193203 19193204 rs60537412 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.162253 0.234095 near-gene-5 exact 1 8 1000GENOMES,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 446.000000,4562.000000, 0.089057,0.910942, maf-5-some-pop 731 chr21 19193227 19193228 rs573926490 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 near-gene-5 exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19193234 19193235 rs112371067 0 + T T G/T genomic single by-cluster 0.5 0 near-gene-5 exact 1 3 BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19193241 19193242 rs34988353 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 near-gene-5 exact 1 11 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,PJP, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19193279 19193280 rs778805360 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193301 19193302 rs559402513 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19193310 19193311 rs776285671 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19193327 19193328 rs533288640 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19193328 19193329 rs545191612 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19193342 19193343 rs745639947 0 + G G G/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193359 19193360 rs563491120 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19193368 19193369 rs146759014 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19193383 19193384 rs549376074 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19193407 19193408 rs140455939 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19193441 19193442 rs144145241 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 near-gene-5 exact 1 2 1000GENOMES,JMKIDD_LAB, 0 731 chr21 19193443 19193444 rs761380286 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19193469 19193470 rs745973083 0 + G G -/G genomic deletion by-cluster 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193472 19193473 rs769346044 0 + A A A/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19193503 19193504 rs772037231 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193512 19193513 rs187270920 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 near-gene-5 exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19193535 19193536 rs534321051 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 JMKIDD_LAB, 0 731 chr21 19193541 19193542 rs547579422 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 JMKIDD_LAB, 0 731 chr21 19193560 19193561 rs775284890 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193567 19193568 rs146433730 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19193616 19193617 rs772917352 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19193633 19193634 rs565777293 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19193636 19193637 rs760724650 0 + C C C/T genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193678 19193679 rs767995082 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19193688 19193689 rs768180220 0 + A A A/C genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19193724 19193725 rs539493481 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19193725 19193726 rs140686175 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19193748 19193749 rs569835420 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19193749 19193750 rs868740269 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19193750 19193754 rs761072319 0 + TTTA TTTA -/TTTA genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 731 chr21 19193760 19193761 rs537274683 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19193765 19193765 rs571497856 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.000798 0.019964 unknown between 1 1 1000GENOMES, 2 -,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19193790 19193791 rs190403296 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19193791 19193792 rs182994894 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19193825 19193826 rs115237016 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.070042 0.173537 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4826.000000,182.000000, 0.963658,0.036342, maf-5-some-pop 731 chr21 19193850 19193851 rs113218575 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19193883 19193884 rs867789828 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19193935 19193936 rs552994275 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19193984 19193985 rs577616088 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19193990 19193991 rs764380120 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19193992 19193993 rs567996928 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 731 chr21 19193993 19193994 rs757478407 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19193997 19193998 rs186963262 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19193998 19193999 rs111750767 0 + T T A/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19194003 19194004 rs113660368 0 + A A A/C genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19194015 19194016 rs563457056 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19194038 19194039 rs575721077 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194048 19194049 rs370430801 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19194056 19194057 rs73208311 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4951.000000,57.000000, 0.988618,0.011382, 731 chr21 19194057 19194058 rs374995178 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19194080 19194081 rs528828316 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194089 19194090 rs111910162 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.056983 0.158885 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 147.000000,4861.000000, 0.029353,0.970647, maf-5-some-pop 731 chr21 19194115 19194116 rs117354289 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 731 chr21 19194158 19194159 rs532974628 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194208 19194209 rs551475357 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19194215 19194216 rs77673101 0 + C C A/C genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19194216 19194216 rs557536631 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.320335 0.239902 unknown between 1 4 1000GENOMES,EVA_GENOME_DK,PADH-LAB_SPU,SSMP, 2 -,A, 4005.000000,1003.000000, 0.799720,0.200280, maf-5-some-pop,maf-5-all-pops 731 chr21 19194223 19194224 rs569763320 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19194249 19194250 rs868031498 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19194250 19194251 rs7280998 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499396 0.017362 unknown exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 2591.000000,2417.000000, 0.517372,0.482628, maf-5-some-pop,maf-5-all-pops 731 chr21 19194252 19194253 rs549198595 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194279 19194280 rs567442205 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19194289 19194290 rs534869638 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194294 19194295 rs781095036 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194347 19194348 rs752848562 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194351 19194352 rs552856824 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194352 19194353 rs113536243 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19194353 19194354 rs756311940 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194373 19194374 rs577579401 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194405 19194406 rs572915022 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 731 chr21 19194421 19194422 rs557013346 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194437 19194438 rs575727713 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19194443 19194444 rs542849271 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194447 19194448 rs541179414 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19194453 19194454 rs561157598 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 731 chr21 19194456 19194457 rs540896005 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19194457 19194458 rs553047240 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19194490 19194491 rs565601744 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19194492 19194493 rs532937749 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19194513 19194514 rs530321849 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19194524 19194525 rs563230317 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194544 19194545 rs746959809 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19194639 19194640 rs148984072 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194649 19194650 rs771983997 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194652 19194653 rs774619181 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 DDI,WEILL_CORNELL_DGM, 0 731 chr21 19194673 19194674 rs548806058 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194674 19194675 rs567411830 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194680 19194681 rs535196901 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19194696 19194697 rs779915437 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194699 19194700 rs59741394 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.431768 0.17164 unknown exact 1 20 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1579.000000,3429.000000, 0.315296,0.684704, maf-5-some-pop,maf-5-all-pops 731 chr21 19194765 19194766 rs117518134 0 + C C C/T genomic single by-1000genomes 0.016528 0.089391 unknown exact 1 1 1000GENOMES, 2 C,T, 119.000000,1.000000, 0.991667,0.008333, 731 chr21 19194767 19194768 rs546459881 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194777 19194778 rs368519575 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19194781 19194782 rs571234658 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194787 19194788 rs191705844 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194795 19194796 rs775952856 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194824 19194825 rs243557 0 - A A G/T genomic single by-frequency,by-hapmap 0.01869 0.094845 unknown exact 1 3 ABI,KWOK,SC_JCM, 2 G,T, 420.000000,4.000000, 0.990566,0.009434, 731 chr21 19194839 19194840 rs575200679 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19194899 19194900 rs557372343 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19194914 19194915 rs184157489 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194924 19194925 rs536711825 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19194925 19194926 rs761287290 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194928 19194929 rs796957219 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 731 chr21 19194938 19194939 rs554781590 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19194968 19194969 rs772846334 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19194989 19194990 rs74414147 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19194993 19194994 rs77562718 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 731 chr21 19195003 19195004 rs372160664 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 JMKIDD_LAB,PADH-LAB_SPU,SSMP, 0 731 chr21 19195065 19195065 rs765640655 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 731 chr21 19195085 19195086 rs147075600 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 4972.000000,36.000000, 0.992812,0.007188, 731 chr21 19195102 19195103 rs747825984 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19195106 19195107 rs559280435 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19195108 19195109 rs112800827 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19195146 19195147 rs545015127 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19195156 19195157 rs762651964 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195165 19195165 rs111345015 0 + - - -/TATG genomic insertion unknown 0.5 0 unknown between 1 1 BUSHMAN, 2 -,TATG, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19195183 19195184 rs193049683 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19195187 19195188 rs530430976 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19195203 19195204 rs369318430 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19195209 19195210 rs185605185 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19195241 19195242 rs751955138 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195261 19195262 rs560839968 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19195262 19195263 rs528249538 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19195271 19195272 rs546423122 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19195293 19195294 rs759913302 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195310 19195311 rs577322481 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19195322 19195323 rs769385245 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19195326 19195327 rs189605674 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19195348 19195349 rs753298181 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195361 19195362 rs532228688 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19195362 19195363 rs764331746 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195364 19195365 rs545945535 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19195369 19195370 rs550610760 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19195406 19195407 rs78250590 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4953.000000,55.000000, 0.989018,0.010982, maf-5-some-pop 731 chr21 19195419 19195420 rs115360174 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 731 chr21 19195427 19195427 rs34701514 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19195440 19195441 rs866707318 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19195453 19195454 rs11911436 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.236434 0.249632 unknown exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4322.000000,686.000000, 0.863019,0.136981, maf-5-some-pop,maf-5-all-pops 731 chr21 19195459 19195460 rs111237330 0 + T T C/T genomic single by-cluster,by-frequency 0.5 0 unknown exact 1 3 BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 731 chr21 19195464 19195465 rs776084312 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19195472 19195473 rs11911438 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.100588 0.200439 unknown exact 1 7 1000GENOMES,ABI,CSHL-HAPMAP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4742.000000,266.000000, 0.946885,0.053115, maf-5-some-pop 731 chr21 19195480 19195481 rs754775625 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195490 19195491 rs111873800 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 731 chr21 19195492 19195493 rs748146034 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195503 19195504 rs369186771 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19195508 19195509 rs371675889 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19195548 19195549 rs769279977 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195574 19195575 rs181572510 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19195582 19195583 rs764504175 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19195607 19195608 rs577514192 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19195621 19195622 rs754644814 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 731 chr21 19195633 19195634 rs752145326 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 3 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195644 19195645 rs544877104 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19195648 19195649 rs561591505 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19195651 19195652 rs184713006 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19195688 19195689 rs188488875 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19195736 19195737 rs181400182 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19195760 19195761 rs561022543 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19195771 19195772 rs530668716 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195838 19195839 rs2039249 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.419776 0.18351 unknown exact 1 19 1000GENOMES,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 1501.000000,3507.000000, 0.299720,0.700280, maf-5-some-pop,genotype-conflict 731 chr21 19195870 19195871 rs758536673 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19195927 19195928 rs550110700 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 G,T, 4992.000000,16.000000, 0.996805,0.003195, 731 chr21 19195952 19195953 rs564698744 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19195960 19195961 rs532191332 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19195984 19195985 rs117810636 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19195997 19195998 rs114228033 0 + A A A/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 1 1000GENOMES, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 731 chr21 19196056 19196057 rs138473150 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19196062 19196063 rs114624599 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4895.000000,113.000000, 0.977436,0.022564, maf-5-some-pop 731 chr21 19196076 19196077 rs566970877 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19196101 19196102 rs750661756 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19196122 19196123 rs185810144 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19196131 19196132 rs243558 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.486332 0.08153 unknown exact 1 26 1000GENOMES,ABI,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2090.000000,2918.000000, 0.417332,0.582668, maf-5-some-pop,maf-5-all-pops 731 chr21 19196133 19196134 rs571020613 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196138 19196139 rs374945152 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19196173 19196174 rs538076618 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196184 19196185 rs556793180 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19196194 19196195 rs575063635 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19196247 19196248 rs191109357 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196255 19196256 rs554190323 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19196263 19196264 rs754005398 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19196276 19196277 rs535238343 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19196340 19196341 rs572515114 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19196363 19196364 rs180971487 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19196370 19196371 rs564661976 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19196377 19196378 rs243559 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.480931 0.095764 unknown exact 1 24 1000GENOMES,ABI,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2993.000000,2015.000000, 0.597644,0.402356, maf-5-some-pop,maf-5-all-pops 731 chr21 19196388 19196389 rs377482949 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19196398 19196399 rs537703030 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19196399 19196400 rs115800386 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19196405 19196406 rs114076465 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19196422 19196423 rs62212949 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.100231 0.200173 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 265.000000,4743.000000, 0.052915,0.947085, maf-5-some-pop 731 chr21 19196424 19196425 rs117142300 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19196428 19196429 rs560479687 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19196461 19196462 rs546159256 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19196470 19196471 rs527699154 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19196490 19196491 rs867108110 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19196551 19196552 rs552674364 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19196554 19196555 rs144135593 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19196559 19196560 rs538417287 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196581 19196582 rs748964543 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19196620 19196621 rs573283045 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19196711 19196712 rs550147227 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196714 19196715 rs147321040 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19196718 19196719 rs774061644 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19196727 19196728 rs373123133 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19196729 19196730 rs554059325 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196743 19196744 rs774355233 0 + T T C/T genomic single unknown 0 0 unknown exact 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19196753 19196754 rs186186359 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19196821 19196822 rs533569726 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196854 19196855 rs558213677 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196860 19196861 rs569838018 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19196866 19196867 rs772511962 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19196870 19196871 rs867713751 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19196885 19196886 rs776004902 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19196917 19196918 rs747526235 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19196924 19196925 rs778240781 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19196931 19196932 rs576904033 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19196958 19196959 rs769082797 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19196991 19196992 rs377448892 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19197020 19197021 rs544390003 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19197066 19197067 rs114653817 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 731 chr21 19197121 19197122 rs148306192 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19197123 19197124 rs73315664 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19197136 19197137 rs560471610 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19197156 19197157 rs764722459 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19197228 19197229 rs527666259 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19197230 19197231 rs552639737 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19197243 19197244 rs561502683 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19197266 19197267 rs867142820 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19197274 19197275 rs150855065 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19197286 19197287 rs563323791 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19197290 19197291 rs530633913 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 731 chr21 19197299 19197300 rs531759762 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19197302 19197303 rs550252317 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19197334 19197335 rs568526364 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19197337 19197338 rs535758897 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19197355 19197356 rs529510652 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19197356 19197357 rs191036025 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19197436 19197437 rs370520429 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19197447 19197448 rs566065589 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19197464 19197465 rs62212950 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.10237 0.201756 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 271.000000,4737.000000, 0.054113,0.945887, maf-5-some-pop 731 chr21 19197497 19197498 rs750641421 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19197619 19197620 rs113840360 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19197642 19197643 rs558174975 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19197688 19197689 rs79556834 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 731 chr21 19197710 19197711 rs537499977 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19197774 19197786 rs536306845 0 + TTCATCCAGGTA TTCATCCAGGTA -/TTCATCCAGGTA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,TTCATCCAGGTA, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19197788 19197789 rs556243182 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19197802 19197803 rs371167677 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19197814 19197815 rs866600252 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19197840 19197841 rs867311982 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19197858 19197859 rs767232691 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19197861 19197862 rs182730106 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19197884 19197885 rs532435004 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,DDI,SSIP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19197943 19197944 rs752519064 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19197962 19197963 rs755994572 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19197983 19197984 rs773352763 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19198054 19198055 rs114343694 0 + T T C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19198072 19198073 rs115312929 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 731 chr21 19198112 19198113 rs564016562 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19198115 19198116 rs546217098 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19198127 19198128 rs564277689 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19198130 19198131 rs372646600 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19198137 19198138 rs531741286 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19198138 19198139 rs543523257 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19198166 19198167 rs187422448 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19198177 19198178 rs763224608 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19198209 19198210 rs777658107 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19198253 19198254 rs753785484 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19198305 19198306 rs529449449 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19198309 19198310 rs191051192 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19198317 19198318 rs756779128 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19198339 19198340 rs566027177 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19198370 19198371 rs557422661 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19198417 19198418 rs533108910 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19198419 19198420 rs533398888 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19198436 19198437 rs139284141 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19198463 19198464 rs183366066 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19198466 19198467 rs537872327 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19198467 19198468 rs555965977 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19198469 19198470 rs568183963 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19198476 19198477 rs751642586 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19198499 19198500 rs188096599 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 0 731 chr21 19198538 19198539 rs375833501 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19198545 19198546 rs866250695 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19198574 19198575 rs759489850 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19198582 19198583 rs192671315 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19198583 19198584 rs556750465 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19198585 19198586 rs771885734 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19198587 19198587 rs34340435 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19198611 19198619 rs748126904 0 + TCTGGTAC TCTGGTAC -/TCTGGTAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19198686 19198687 rs866739447 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19198721 19198722 rs535637732 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19198739 19198740 rs780520203 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19198797 19198798 rs184513685 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19198822 19198823 rs572274303 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19198825 19198826 rs747353678 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19198930 19198931 rs546078758 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19198950 19198951 rs187885457 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19198951 19198952 rs192526900 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19198962 19198963 rs370226246 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19198963 19198964 rs543832710 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19198974 19198975 rs562030654 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19198977 19198978 rs529392358 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19198984 19198985 rs12482135 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.089446 0.191631 unknown exact 1 15 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4773.000000,235.000000, 0.953075,0.046925, maf-5-some-pop 731 chr21 19198986 19198987 rs552557523 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19199002 19199003 rs865838245 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19199095 19199095 rs537408634 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 731 chr21 19199096 19199097 rs77856393 0 + A A A/C genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 731 chr21 19199111 19199111 rs11434862 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19199115 19199116 rs559477962 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19199170 19199171 rs533361411 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19199194 19199195 rs763194170 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19199224 19199225 rs374773167 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19199245 19199246 rs77926350 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 731 chr21 19199246 19199247 rs751821623 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19199250 19199251 rs531194723 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19199252 19199253 rs184377295 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19199264 19199265 rs139289971 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 731 chr21 19199288 19199289 rs535497318 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19199289 19199290 rs369143214 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19199294 19199295 rs565845867 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19199322 19199323 rs539672229 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19199347 19199348 rs557618071 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19199383 19199384 rs146510079 0 + A A A/C genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 A,C, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19199489 19199490 rs537046014 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19199490 19199491 rs753751245 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19199494 19199495 rs757150399 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19199502 19199503 rs868087255 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19199533 19199534 rs778449485 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19199537 19199538 rs149037968 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19199552 19199553 rs116703272 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19199553 19199554 rs243560 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392511 0.205404 unknown exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3665.000000,1343.000000, 0.731829,0.268171, maf-5-some-pop 731 chr21 19199612 19199613 rs559445333 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19199614 19199615 rs577796726 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19199642 19199643 rs372846753 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19199650 19199651 rs796751532 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 731 chr21 19199694 19199695 rs779818792 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19199733 19199734 rs563820011 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19199747 19199748 rs189128580 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19199754 19199755 rs112123045 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19199773 19199774 rs541475422 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19199801 19199802 rs76574522 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 7 1000GENOMES,BGI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 C,G, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 731 chr21 19199826 19199827 rs561628195 0 + A A A/T genomic single by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 1 1000GENOMES, 2 A,T, 4976.000000,32.000000, 0.993610,0.006390, 731 chr21 19199827 19199830 rs796863340 0 + AAT AAT -/AAT genomic deletion unknown 0 0 unknown range 1 DuplicateObserved 1 PADH-LAB_SPU, 0 731 chr21 19199827 19199827 rs369832582 0 + - - -/AAT genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 LUNTER, 0 731 chr21 19199893 19199894 rs769124245 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19199947 19199948 rs564419200 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19199955 19199956 rs151170722 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19199980 19199981 rs771630172 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19199990 19199991 rs547493887 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19199995 19199996 rs113140686 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19200011 19200012 rs140241145 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19200086 19200087 rs376158920 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19200189 19200190 rs192606588 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19200227 19200228 rs184799240 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19200238 19200239 rs770233647 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19200265 19200266 rs773291371 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19200316 19200317 rs762996270 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19200387 19200388 rs189722231 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19200392 19200393 rs537309579 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19200406 19200407 rs180844737 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19200408 19200409 rs185246741 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19200410 19200411 rs539790127 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19200432 19200433 rs189177635 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19200463 19200464 rs181942150 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19200464 19200465 rs79332801 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 731 chr21 19200533 19200534 rs243561 0 - A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497641 0.034264 unknown exact 1 25 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2332.000000,2676.000000, 0.465655,0.534345, maf-5-some-pop,maf-5-all-pops 731 chr21 19200538 19200539 rs563859501 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19200591 19200592 rs575759976 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19200598 19200599 rs548876236 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19200608 19200609 rs56816067 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 8 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 731 chr21 19200644 19200645 rs185761666 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19200645 19200646 rs2824500 0 + T T G/T genomic single by-frequency 0.336735 0.234472 unknown exact 1 1 PERLEGEN, 2 G,T, 3.000000,11.000000, 0.214286,0.785714, maf-5-some-pop,maf-5-all-pops 731 chr21 19200658 19200659 rs138498918 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19200666 19200667 rs142512849 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19200675 19200676 rs2824501 0 + G G A/G genomic single by-frequency,by-submitter 0.391111 0.206368 unknown exact 1 1 PERLEGEN, 2 A,G, 4.000000,11.000000, 0.266667,0.733333, maf-5-some-pop,maf-5-all-pops 731 chr21 19200685 19200686 rs367553894 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 731 chr21 19200686 19200686 rs11385266 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.223225 0.248562 unknown between 1 9 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,PJP,SSMP, 2 -,A, 641.000000,4367.000000, 0.127995,0.872005, maf-5-some-pop,maf-5-all-pops 731 chr21 19200699 19200700 rs371841372 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BILGI_BIOE, 0 731 chr21 19200699 19200699 rs397712502 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 4 ABI,GMI,HGSV,HUMANGENOME_JCVI, 1 A, 2.000000, 1.000000, 731 chr21 19200701 19200702 rs376071401 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 731 chr21 19200704 19200705 rs368445414 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 731 chr21 19200721 19200722 rs748691128 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19200752 19200753 rs6517791 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.385741 0.209939 unknown exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 1307.000000,3701.000000, 0.260982,0.739018, maf-5-some-pop 731 chr21 19200798 19200799 rs191758023 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19200865 19200866 rs183579980 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19200866 19200867 rs375619029 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19200870 19200871 rs761764053 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19200880 19200881 rs186502360 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19200909 19200910 rs149352646 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19200929 19200930 rs115361505 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19200986 19200987 rs534690131 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201014 19201015 rs191369782 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201018 19201019 rs182100972 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19201034 19201035 rs763141848 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19201040 19201041 rs539083593 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19201059 19201060 rs551099861 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 -,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19201079 19201080 rs557190370 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201095 19201096 rs186824947 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201100 19201104 rs536710082 0 + TTCA TTCA -/TTCA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TTCA, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19201105 19201109 rs774668455 0 + TCAA TCAA -/TCAA genomic deletion by-cluster 0 0 unknown range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201108 19201109 rs575360086 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19201122 19201123 rs566013531 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19201160 19201161 rs759486081 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19201170 19201170 rs377312964 0 + - - -/ATGTGAGATACT genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 731 chr21 19201179 19201180 rs542885974 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201185 19201186 rs543986969 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19201231 19201232 rs573625486 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19201257 19201258 rs540930696 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19201292 19201293 rs243562 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498437 0.027912 unknown exact 1 30 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2364.000000,2644.000000, 0.472045,0.527955, maf-5-some-pop,maf-5-all-pops,genotype-conflict 731 chr21 19201298 19201299 rs112862603 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201347 19201348 rs183464920 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19201372 19201372 rs538976829 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.002792 0.037256 unknown between 1 1 1000GENOMES, 2 -,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19201382 19201383 rs78653063 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.066703 0.170006 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4835.000000,173.000000, 0.965455,0.034545, maf-5-some-pop 731 chr21 19201398 19201399 rs2154624 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496517 0.041588 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2295.000000,2713.000000, 0.458267,0.541733, maf-5-some-pop,maf-5-all-pops 731 chr21 19201425 19201426 rs576579384 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19201458 19201459 rs781579785 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201487 19201488 rs530718426 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19201497 19201498 rs548808806 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201556 19201557 rs567222157 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19201559 19201560 rs748481775 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201563 19201564 rs144652921 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19201611 19201612 rs546500543 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201612 19201613 rs571584114 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19201650 19201651 rs368834525 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19201673 19201674 rs753724190 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19201703 19201704 rs188879558 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19201758 19201759 rs778140092 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201763 19201764 rs757149331 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19201765 19201766 rs749853796 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201772 19201773 rs560053998 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19201788 19201789 rs193074625 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19201827 19201828 rs770940180 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201836 19201837 rs112480917 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19201886 19201887 rs774419202 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201903 19201904 rs746054248 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201905 19201912 rs759074840 0 + ATTTCAC ATTTCAC -/ATTTCAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201915 19201916 rs185318067 0 + T T A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19201961 19201962 rs772209976 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19201963 19201964 rs243614 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.384593 0.210677 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1301.000000,3707.000000, 0.259784,0.740216, maf-5-some-pop 731 chr21 19201964 19201965 rs555152802 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19201979 19201980 rs189823647 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19201980 19201981 rs575839037 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 -,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19201984 19201985 rs375987747 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19201994 19201995 rs761484643 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202009 19202010 rs867612725 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19202024 19202025 rs765142974 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202038 19202039 rs750099709 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19202050 19202051 rs74495956 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4893.000000,115.000000, 0.977037,0.022963, maf-5-some-pop 731 chr21 19202081 19202082 rs562550633 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202109 19202110 rs559312282 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202134 19202135 rs142890476 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19202152 19202153 rs192731722 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19202179 19202180 rs183516203 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202191 19202192 rs111799459 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19202200 19202201 rs17002101 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.010329 0.07112 unknown exact 1 8 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19202220 19202221 rs188248315 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202240 19202241 rs754628794 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202245 19202246 rs767052579 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202297 19202298 rs560710023 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202333 19202334 rs752432835 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202348 19202349 rs748587734 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19202365 19202366 rs756422980 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202367 19202368 rs528287559 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202395 19202396 rs778216003 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202465 19202466 rs749728753 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202495 19202496 rs757796623 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202497 19202498 rs531470302 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19202532 19202533 rs180956896 0 + C C A/C genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202572 19202573 rs146085099 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19202603 19202604 rs186200980 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19202628 19202629 rs775566914 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202638 19202639 rs535124025 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19202640 19202641 rs747311847 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202655 19202656 rs769413732 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202662 19202664 rs570958175 0 + CA CA -/CA genomic deletion by-cluster 0 0 unknown range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202674 19202675 rs139330040 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 1 1000GENOMES, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 731 chr21 19202676 19202677 rs190554130 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19202686 19202687 rs536702800 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19202725 19202726 rs17002102 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19202738 19202739 rs749616318 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19202755 19202756 rs181865624 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202757 19202758 rs534419314 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19202763 19202764 rs540082413 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202787 19202788 rs559186513 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202793 19202794 rs577509797 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19202794 19202795 rs186770368 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202795 19202796 rs774477226 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202824 19202825 rs538629009 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19202835 19202836 rs556638988 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19202844 19202845 rs566828969 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19202845 19202846 rs535435464 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19202850 19202851 rs542281533 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19202890 19202891 rs767113437 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202904 19202905 rs555374689 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19202908 19202909 rs146033935 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19202911 19202912 rs752235764 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202992 19202993 rs760380200 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19202995 19202996 rs746107405 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19203001 19203002 rs572679433 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19203040 19203041 rs772042455 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19203091 19203092 rs775699040 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19203092 19203092 rs555103130 0 + - - -/TA genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 unknown between 1 1 1000GENOMES, 2 -,TA, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19203102 19203102 rs35106728 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19203110 19203110 rs35066056 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19203115 19203116 rs377175836 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19203171 19203172 rs139598700 0 + G G A/G genomic single by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 1 1000GENOMES, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19203182 19203183 rs764403002 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19203196 19203197 rs370588142 0 + C C A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19203227 19203228 rs760656849 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19203292 19203293 rs532259222 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19203303 19203304 rs550860398 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19203315 19203316 rs754227031 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19203369 19203370 rs112481984 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19203414 19203415 rs764082561 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19203432 19203433 rs17002105 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.064842 0.167978 unknown exact 1 8 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 C,T, 4840.000000,168.000000, 0.966454,0.033546, maf-5-some-pop 731 chr21 19203433 19203434 rs575324697 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19203461 19203461 rs542714679 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001995 0.031519 unknown between 1 1 1000GENOMES, 2 -,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19203480 19203481 rs373596584 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19203491 19203492 rs17002107 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.010329 0.07112 unknown exact 1 8 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN, 2 G,T, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19203535 19203536 rs200454126 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19203548 19203549 rs149743996 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19203616 19203617 rs552543962 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19203753 19203754 rs191259419 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19203784 19203785 rs145480039 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 731 chr21 19203805 19203806 rs758391242 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19203825 19203826 rs528402289 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19203851 19203852 rs376256646 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19203860 19203861 rs556832183 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19203884 19203885 rs574866441 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19203894 19203895 rs747130462 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19203912 19203913 rs537996837 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19203913 19203914 rs370950979 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19203965 19203966 rs114163986 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 731 chr21 19203997 19203998 rs243615 0 - A A C/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 731 chr21 19204002 19204002 rs761249075 0 + - - -/TG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204006 19204007 rs540326198 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19204027 19204028 rs112026155 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19204046 19204047 rs770888464 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204049 19204053 rs796489141 0 + AGAA AGAA -/AGAA genomic deletion unknown 0 0 unknown range 1 1 PADH-LAB_SPU, 0 731 chr21 19204091 19204092 rs185197623 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19204092 19204093 rs112622549 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 A, 1.000000, 1.000000, 731 chr21 19204128 19204129 rs577772582 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19204129 19204130 rs759532701 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204164 19204165 rs7279457 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.23846 0.249734 unknown exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4315.000000,693.000000, 0.861621,0.138379, maf-5-some-pop 731 chr21 19204196 19204196 rs34306891 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19204251 19204252 rs7279040 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.369754 0.219451 unknown exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3782.000000,1226.000000, 0.755192,0.244808, maf-5-some-pop 731 chr21 19204268 19204269 rs760199542 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204318 19204319 rs763717806 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204351 19204352 rs189755834 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19204359 19204360 rs762164558 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204360 19204361 rs765645046 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204376 19204377 rs148397907 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19204380 19204381 rs866817383 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19204391 19204392 rs560567576 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19204405 19204405 rs764582676 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204510 19204511 rs7279950 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.385741 0.209939 unknown exact 1 19 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3701.000000,1307.000000, 0.739018,0.260982, maf-5-some-pop 731 chr21 19204530 19204531 rs758943598 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204554 19204555 rs552650777 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19204592 19204593 rs570925347 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19204593 19204594 rs779954479 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204601 19204602 rs531955856 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19204611 19204612 rs550185884 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19204613 19204614 rs568450636 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19204616 19204617 rs751681198 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204669 19204670 rs751111904 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19204682 19204683 rs535836913 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19204704 19204705 rs796592339 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 731 chr21 19204709 19204710 rs76021464 0 + C C C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19204717 19204717 rs34455886 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19204722 19204723 rs115797233 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19204726 19204727 rs7284042 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.23846 0.249734 unknown exact 1 15 1000GENOMES,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 693.000000,4315.000000, 0.138379,0.861621, maf-5-some-pop 731 chr21 19204745 19204746 rs558639713 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19204779 19204780 rs748447256 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204794 19204795 rs2824502 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.378174 0.214642 unknown exact 1 24 1000GENOMES,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1268.000000,3740.000000, 0.253195,0.746805, maf-5-some-pop,genotype-conflict 731 chr21 19204818 19204819 rs548393564 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19204831 19204832 rs544427278 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19204841 19204842 rs868665939 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19204866 19204867 rs556485757 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19204876 19204877 rs778858334 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204918 19204918 rs200488476 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown between 1 1 1000GENOMES, 2 -,T, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19204925 19204926 rs574834613 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.020477 0.099093 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 38.000000,3635.000000, 0.010346,0.989654, 731 chr21 19204926 19204927 rs243616 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.027565 0.114116 unknown exact 1 MixedObserved 10 1000GENOMES,ABI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,KWOK,SC_JCM,SSAHASNP, 2 A,T, 70.000000,4938.000000, 0.013978,0.986022, 731 chr21 19204926 19204927 rs11302344 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.392919 0.20512 unknown exact 1 MixedObserved 3 1000GENOMES,GMI,SSMP, 2 -,A, 1335.000000,3635.000000, 0.268612,0.731388, maf-5-some-pop,maf-5-all-pops 731 chr21 19204933 19204934 rs182412038 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19204936 19204937 rs796529508 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 731 chr21 19204953 19204954 rs775341997 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19204964 19204965 rs189009513 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19204968 19204969 rs243617 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.469049 0.120489 unknown exact 1 30 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1881.000000,3127.000000, 0.375599,0.624401, maf-5-some-pop,maf-5-all-pops 731 chr21 19205015 19205016 rs564632135 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19205118 19205119 rs531797896 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19205127 19205128 rs147581128 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19205197 19205198 rs142552389 0 + C C C/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 1 1000GENOMES, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19205203 19205204 rs557823747 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19205219 19205220 rs768226624 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205240 19205241 rs146679526 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19205252 19205253 rs868068647 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19205256 19205257 rs776255709 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205279 19205280 rs761464632 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205331 19205332 rs765514487 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205378 19205379 rs547700057 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19205391 19205392 rs773654600 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205499 19205500 rs763316929 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205544 19205545 rs566102707 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19205576 19205577 rs151326622 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19205600 19205601 rs533382349 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19205605 19205606 rs372290452 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19205611 19205612 rs755104178 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205712 19205713 rs570566148 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19205720 19205721 rs547199376 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19205746 19205746 rs754489389 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 731 chr21 19205760 19205761 rs75551178 0 + T T G/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 731 chr21 19205762 19205762 rs397866688 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19205764 19205765 rs537638521 0 + G G G/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 1 1000GENOMES, 2 G,T, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19205768 19205769 rs556349273 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19205774 19205775 rs567036988 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 731 chr21 19205796 19205797 rs193145516 0 + T T G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,TISHKOFF, 0 731 chr21 19205797 19205798 rs574695579 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19205800 19205801 rs11909049 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.358515 0.225221 unknown exact 1 12 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1172.000000,3836.000000, 0.234026,0.765974, maf-5-some-pop 731 chr21 19205825 19205826 rs201338026 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19205830 19205831 rs199900100 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19205884 19205885 rs113535540 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19205888 19205889 rs572328244 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19205893 19205894 rs548962765 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19205897 19205898 rs546212708 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19205900 19205901 rs564415474 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19205904 19205905 rs113138593 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 731 chr21 19205907 19205908 rs61583920 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 731 chr21 19205909 19205910 rs543519235 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19205910 19205911 rs561910070 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19205917 19205918 rs529467344 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19205933 19205934 rs547662951 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19205955 19205956 rs756436363 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205971 19205972 rs559652579 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19205972 19205973 rs778526196 0 + G G C/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19205974 19205975 rs377227085 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19205983 19205984 rs183467534 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19205985 19205986 rs775603738 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19205986 19205987 rs747036833 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19205992 19205993 rs552194889 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19206010 19206011 rs570357880 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19206016 19206017 rs537907310 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19206035 19206036 rs188448601 0 + C C A/C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19206036 19206037 rs537907878 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19206084 19206085 rs2824503 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.367297 0.220775 unknown exact 1 26 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1214.000000,3794.000000, 0.242412,0.757588, maf-5-some-pop,genotype-conflict 731 chr21 19206091 19206092 rs191576784 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19206101 19206102 rs780040248 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19206116 19206117 rs373018895 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19206144 19206145 rs13051570 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.497984 0.031685 unknown exact 1 20 1000GENOMES,ABI,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 2345.000000,2663.000000, 0.468251,0.531749, maf-5-some-pop,maf-5-all-pops 731 chr21 19206170 19206171 rs572346977 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19206172 19206173 rs183906627 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19206203 19206204 rs369354374 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19206222 19206223 rs773106114 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19206224 19206225 rs776119581 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19206288 19206289 rs75576058 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4876.000000,132.000000, 0.973642,0.026358, maf-5-some-pop 731 chr21 19206356 19206357 rs576372847 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19206441 19206442 rs568306797 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 731 chr21 19206465 19206466 rs561874866 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19206475 19206476 rs772787560 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19206488 19206489 rs11088655 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.358515 0.225221 unknown exact 1 25 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3836.000000,1172.000000, 0.765974,0.234026, maf-5-some-pop,genotype-conflict 731 chr21 19206535 19206536 rs541265296 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19206559 19206560 rs766720359 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19206618 19206619 rs559789955 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19206633 19206634 rs533625934 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19206666 19206667 rs2824504 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.36606 0.221428 unknown exact 1 26 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3800.000000,1208.000000, 0.758786,0.241214, maf-5-some-pop 731 chr21 19206725 19206726 rs564077472 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19206761 19206762 rs10854423 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.366679 0.221102 unknown exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3797.000000,1211.000000, 0.758187,0.241813, maf-5-some-pop 731 chr21 19206805 19206806 rs549883766 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19206859 19206860 rs116317363 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19206860 19206861 rs529091221 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19206947 19206948 rs115049816 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19206948 19206949 rs115514738 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19206949 19206950 rs142736549 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19206961 19206962 rs557787318 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19206992 19206993 rs570011186 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19207013 19207014 rs767664828 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207027 19207028 rs752848673 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207057 19207058 rs537081339 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19207180 19207181 rs187154477 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19207204 19207205 rs756313604 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207303 19207304 rs764348961 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207304 19207305 rs754076798 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207343 19207344 rs754339291 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19207427 19207428 rs573840651 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19207454 19207455 rs868575110 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19207462 19207463 rs757841330 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19207482 19207483 rs191249832 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19207491 19207492 rs553488763 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19207529 19207530 rs578123391 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19207533 19207533 rs746201585 0 + - - -/T genomic insertion unknown 0 0 near-gene-3 between 1 1 EVA_DECODE, 0 731 chr21 19207549 19207550 rs184542980 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19207585 19207586 rs243618 0 + C C A/C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.388964 0.20782 near-gene-3 exact 1 SingleClassTriAllelic,InconsistentAlleles 33 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SEQUENOM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1324.000000,3684.000000, 0.264377,0.735623, maf-5-some-pop 731 chr21 19207587 19207588 rs780629966 0 + T T C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207666 19207667 rs112075206 0 + C C C/T genomic single by-cluster 0 0 near-gene-3 exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 T, 1.000000, 1.000000, 731 chr21 19207691 19207692 rs376429648 0 + A A A/C genomic single unknown 0 0 near-gene-3 exact 1 1 SSMP, 0 731 chr21 19207700 19207701 rs531318652 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 near-gene-3 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19207707 19207708 rs8128220 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.199254 0.244796 near-gene-3 exact 1 15 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 562.000000,4446.000000, 0.112220,0.887780, maf-5-some-pop 731 chr21 19207716 19207717 rs145064661 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 near-gene-3 exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19207734 19207735 rs74324685 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 near-gene-3 exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 731 chr21 19207768 19207769 rs138846569 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 near-gene-3 exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19207769 19207770 rs142567311 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19207795 19207796 rs562425199 0 + C C C/G genomic single by-cluster 0 0 near-gene-3 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207896 19207897 rs533008161 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19207941 19207942 rs772685897 0 + T T C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19207946 19207947 rs551636427 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19208018 19208019 rs537320059 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 ncRNA exact 1 2 1000GENOMES,SSIP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19208098 19208099 rs776181890 0 + T T C/T genomic single unknown 0 0 ncRNA exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19208109 19208110 rs537042354 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19208126 19208127 rs190448210 0 + T T C/T genomic single by-1000genomes 0 0 ncRNA exact 1 1 1000GENOMES, 0 731 chr21 19208132 19208133 rs76471842 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 ncRNA exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4976.000000,32.000000, 0.993610,0.006390, 731 chr21 19208144 19208145 rs781476963 0 + T T -/T genomic deletion unknown 0 0 splice-3 exact 1 1 EVA_DECODE, 0 731 chr21 19208187 19208188 rs79779144 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.043728 0.141251 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 112.000000,4896.000000, 0.022364,0.977636, maf-5-some-pop 731 chr21 19208197 19208198 rs534762869 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19208300 19208301 rs553215564 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19208377 19208378 rs12483208 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.107694 0.205546 intron exact 1 16 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 286.000000,4722.000000, 0.057109,0.942891, maf-5-some-pop 731 chr21 19208421 19208422 rs182162994 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19208427 19208428 rs557623765 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19208520 19208521 rs564807073 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19208543 19208544 rs576054516 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19208588 19208589 rs527415048 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,JMKIDD_LAB, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19208637 19208638 rs185144456 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19208646 19208647 rs148661352 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19208730 19208731 rs190070138 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003589 0.04224 intron exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 3 A,C,T, 4.000000,5.000000,4999.000000, 0.000799,0.000998,0.998203, 731 chr21 19208739 19208740 rs141379303 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19208775 19208776 rs755636647 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19208817 19208818 rs560361318 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19208827 19208828 rs529499073 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19208951 19208952 rs73892693 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,ILLUMINA-UK,TISHKOFF, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19208974 19208975 rs530674382 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19209015 19209016 rs76174727 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 731 chr21 19209051 19209052 rs9980439 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 3 1000GENOMES,TISHKOFF,WUGSC_SSAHASNP, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, maf-5-some-pop 731 chr21 19209076 19209077 rs568878706 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19209084 19209085 rs150791519 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19209156 19209157 rs181685705 0 + G G G/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 G,T, 4992.000000,16.000000, 0.996805,0.003195, 731 chr21 19209177 19209178 rs544085910 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 -,A, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19209192 19209195 rs566563618 0 + AAC AAC -/AAC genomic deletion by-frequency,by-1000genomes 0.009934 0.069774 intron range 1 1 1000GENOMES, 2 -,AAC, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19209201 19209202 rs116624503 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 731 chr21 19209210 19209211 rs760132148 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19209213 19209214 rs539220830 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19209248 19209249 rs777400348 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 731 chr21 19209308 19209309 rs59106313 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 731 chr21 19209338 19209339 rs557228850 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19209342 19209343 rs59656173 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,WEILL_CORNELL_DGM, 2 C,G, 4981.000000,27.000000, 0.994609,0.005391, 731 chr21 19209605 19209606 rs765725737 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19209612 19209613 rs796877072 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19209619 19209620 rs185634248 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19209652 19209653 rs746205179 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19209653 19209654 rs79804218 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047915 0.147179 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4885.000000,123.000000, 0.975439,0.024561, maf-5-some-pop 731 chr21 19209720 19209721 rs573662606 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19209741 19209742 rs750907688 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19209748 19209749 rs540710248 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19209841 19209842 rs542733611 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19209877 19209878 rs776129461 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19209879 19209880 rs559393602 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19209884 19209885 rs80337137 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4946.000000,62.000000, 0.987620,0.012380, 731 chr21 19209920 19209921 rs768718390 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19209921 19209922 rs776601981 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19209966 19209967 rs112648358 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19209967 19209968 rs557326736 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19210039 19210040 rs762042119 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210077 19210078 rs551783031 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210079 19210080 rs572709520 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19210104 19210104 rs34613954 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19210182 19210183 rs144992589 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19210209 19210210 rs571635863 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210262 19210263 rs190400565 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19210263 19210264 rs530642241 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19210274 19210275 rs147591153 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19210321 19210322 rs10482890 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.36606 0.221428 intron exact 1 18 1000GENOMES,AFFY,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1208.000000,3800.000000, 0.241214,0.758786, maf-5-some-pop 731 chr21 19210364 19210365 rs140350866 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210396 19210400 rs556247430 0 + AAAT AAAT -/AAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,AAAT, 14.000000,4994.000000, 0.002796,0.997204, 731 chr21 19210427 19210428 rs528480527 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19210442 19210443 rs546724492 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19210455 19210456 rs781387078 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19210465 19210466 rs2824505 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.382473 0.212016 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3718.000000,1290.000000, 0.742412,0.257588, maf-5-some-pop 731 chr21 19210508 19210509 rs777290145 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210515 19210516 rs180857075 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19210519 19210520 rs35166494 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 731 chr21 19210551 19210552 rs144301619 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19210581 19210582 rs569451480 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19210584 19210585 rs536880135 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19210618 19210619 rs555291883 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19210619 19210620 rs573625744 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19210625 19210626 rs145832711 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19210662 19210663 rs536515125 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19210673 19210674 rs753266184 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210697 19210698 rs75992527 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.043728 0.141251 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4896.000000,112.000000, 0.977636,0.022364, maf-5-some-pop 731 chr21 19210715 19210716 rs148975799 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19210735 19210736 rs544747521 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19210786 19210787 rs563073408 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19210804 19210805 rs185958053 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19210832 19210833 rs192158707 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19210847 19210848 rs778705305 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210848 19210849 rs560845629 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19210851 19210852 rs528328137 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19210908 19210909 rs556516495 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210933 19210934 rs780573583 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19210946 19210947 rs796658576 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19210965 19210966 rs576432396 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19210970 19210971 rs538494350 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,C, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19211002 19211003 rs540530784 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19211007 19211008 rs202111361 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19211008 19211009 rs200304070 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19211078 19211079 rs17002115 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.365646 0.221644 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3802.000000,1206.000000, 0.759185,0.240815, maf-5-some-pop 731 chr21 19211100 19211101 rs128368 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.389152 0.207694 intron exact 1 29 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1325.000000,3683.000000, 0.264577,0.735423, maf-5-some-pop 731 chr21 19211130 19211131 rs774190232 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211135 19211136 rs748768 0 - C C G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.169435 0.236663 intron exact 1 15 1000GENOMES,ABI,AFFY,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 4540.000000,468.000000, 0.906550,0.093451, maf-5-some-pop 731 chr21 19211138 19211139 rs569414830 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19211157 19211158 rs143830727 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 731 chr21 19211164 19211165 rs183991724 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19211180 19211181 rs769926470 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211192 19211193 rs567060448 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19211223 19211224 rs534189730 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19211224 19211224 rs201302058 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,SSMP, 0 731 chr21 19211245 19211246 rs141230335 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19211285 19211286 rs773407699 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211286 19211287 rs189176201 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19211303 19211304 rs763174646 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211335 19211336 rs538283712 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19211342 19211343 rs556631193 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19211348 19211349 rs115409486 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19211413 19211414 rs767232629 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211438 19211439 rs542318047 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19211482 19211483 rs190445230 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19211501 19211502 rs573010036 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19211509 19211510 rs775287549 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211514 19211515 rs183029864 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19211522 19211523 rs760568153 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211529 19211530 rs375782761 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19211553 19211554 rs187012213 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19211558 19211559 rs541125290 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19211567 19211568 rs191694668 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19211601 19211602 rs544663278 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19211631 19211632 rs577080036 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19211671 19211672 rs530174627 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19211698 19211699 rs548713484 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19211722 19211723 rs566922187 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19211726 19211727 rs79108242 0 + G G C/G genomic single by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19211748 19211749 rs552580737 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19211793 19211794 rs560272725 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19211804 19211805 rs184285526 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19211806 19211807 rs529462117 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19211827 19211828 rs58533121 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,HGSV,SSMP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19211846 19211847 rs556493059 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19211849 19211850 rs753882797 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211881 19211882 rs756710936 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211883 19211884 rs796314481 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19211884 19211885 rs568522669 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19211892 19211893 rs759167758 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19211910 19211911 rs535910473 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19211916 19211917 rs243619 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.40853 0.193309 intron exact 1 37 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1433.000000,3575.000000, 0.286142,0.713858, maf-5-some-pop,maf-5-all-pops 731 chr21 19211931 19211932 rs796280433 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19211952 19211953 rs372539023 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19211959 19211960 rs572935992 0 + T T C/T genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 731 chr21 19211988 19211989 rs750033550 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19211996 19211997 rs540461016 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19212016 19212017 rs142078761 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 731 chr21 19212073 19212074 rs577161769 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19212169 19212170 rs150424539 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19212174 19212175 rs562833862 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19212178 19212179 rs138604579 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19212180 19212181 rs114628906 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 731 chr21 19212185 19212186 rs370030247 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19212188 19212189 rs187646552 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19212224 19212225 rs537361692 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19212293 19212294 rs193225669 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19212315 19212316 rs758159216 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19212351 19212352 rs552784007 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19212395 19212396 rs780512424 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19212409 19212410 rs564527753 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19212418 19212419 rs531846935 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19212479 19212480 rs550080075 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19212481 19212482 rs568487752 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19212528 19212529 rs535873122 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19212552 19212553 rs556907177 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19212556 19212557 rs566607285 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19212577 19212578 rs149289600 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19212624 19212625 rs539032945 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19212640 19212641 rs755407366 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19212682 19212683 rs114827853 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19212711 19212712 rs577127308 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19212718 19212731 rs199619792 0 + AAAAACAAAAAAA AAAAACAAAAAAA -/AAAAACAAAAAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron range 1 1 1000GENOMES, 2 -,AAAAACAAAAAAA, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19212724 19212724 rs577620416 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 731 chr21 19212729 19212730 rs7276109 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 7 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4977.000000,31.000000, 0.993810,0.006190, 731 chr21 19212732 19212733 rs61689728 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.135484 0.22223 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4642.000000,366.000000, 0.926917,0.073083, maf-5-some-pop 731 chr21 19212733 19212734 rs769805746 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19212734 19212735 rs144800920 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 PJP, 0 731 chr21 19212746 19212747 rs868365538 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19212790 19212796 rs551478355 0 + TTCAGA TTCAGA -/TTCAGA genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 731 chr21 19212815 19212816 rs571664743 0 + T T C/T genomic single unknown 0 0 ncRNA exact 1 1 EVA-GONL, 0 731 chr21 19212820 19212821 rs371963237 0 + T T C/T genomic single unknown 0 0 ncRNA exact 1 1 SSMP, 0 731 chr21 19212835 19212836 rs574869251 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19212915 19212916 rs865821628 0 + G G A/G genomic single unknown 0 0 ncRNA exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19212921 19212922 rs773284379 0 + G G A/G genomic single unknown 0 0 ncRNA exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19212959 19212960 rs542251027 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 ncRNA exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19213002 19213003 rs527742112 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19213009 19213010 rs113838556 0 + C C A/C/T genomic single by-cluster 0.5 0 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 6 BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19213018 19213019 rs547923969 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19213022 19213023 rs243620 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.384785 0.210554 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3706.000000,1302.000000, 0.740016,0.259984, maf-5-some-pop 731 chr21 19213027 19213028 rs545990740 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19213055 19213056 rs185464870 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213058 19213059 rs114517910 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 731 chr21 19213080 19213081 rs189596972 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19213083 19213084 rs867592230 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19213125 19213126 rs562083886 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19213147 19213148 rs764008649 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213181 19213182 rs529636452 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213198 19213199 rs552934657 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213202 19213203 rs566351792 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213211 19213212 rs533851180 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19213212 19213213 rs181556687 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213221 19213222 rs776377544 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213255 19213256 rs570637807 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213278 19213279 rs761849104 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213289 19213290 rs538071673 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19213343 19213345 rs751583324 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213350 19213351 rs243621 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.40263 0.198 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 1399.000000,3609.000000, 0.279353,0.720647, maf-5-some-pop,maf-5-all-pops 731 chr21 19213358 19213359 rs147152176 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19213384 19213385 rs749972103 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213405 19213406 rs535388680 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19213445 19213445 rs35765749 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19213471 19213472 rs554096435 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19213499 19213500 rs572368330 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213505 19213506 rs112965875 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19213522 19213523 rs7364067 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 SC_SNP, 0 731 chr21 19213547 19213548 rs766095819 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213570 19213571 rs557859902 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213593 19213594 rs751290165 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213638 19213639 rs142128810 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19213644 19213645 rs781629231 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213692 19213693 rs753078119 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19213750 19213751 rs184708545 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213814 19213815 rs752009964 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19213833 19213834 rs561945790 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19213872 19213873 rs569955821 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19213936 19213937 rs529547448 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19213961 19213962 rs541372928 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19214003 19214004 rs756644545 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214025 19214026 rs150738015 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19214048 19214049 rs527315389 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19214049 19214050 rs62212951 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 5 BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19214058 19214059 rs2824507 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.365024 0.221967 intron exact 1 21 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3805.000000,1203.000000, 0.759784,0.240216, maf-5-some-pop 731 chr21 19214101 19214102 rs201233622 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19214130 19214131 rs771066994 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214139 19214140 rs756176640 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214194 19214195 rs778992351 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214214 19214215 rs572017907 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19214231 19214232 rs572808950 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19214281 19214282 rs188480548 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19214298 19214299 rs376289751 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19214331 19214332 rs181299771 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19214358 19214360 rs749139115 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214364 19214365 rs768272995 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214421 19214422 rs185980897 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19214434 19214435 rs769064853 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 731 chr21 19214445 19214446 rs57820479 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 731 chr21 19214527 19214528 rs776524845 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214533 19214534 rs535707207 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19214553 19214554 rs761797806 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214590 19214591 rs769828532 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214599 19214600 rs540735492 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19214638 19214639 rs553806058 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19214642 19214643 rs566045770 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19214648 19214649 rs541566655 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19214654 19214655 rs243622 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.399432 0.200425 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3627.000000,1381.000000, 0.724241,0.275759, maf-5-some-pop 731 chr21 19214699 19214700 rs762544129 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214715 19214716 rs576079335 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19214718 19214719 rs751112857 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214731 19214732 rs759229962 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214746 19214747 rs139367609 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19214831 19214831 rs35731640 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19214862 19214863 rs560830119 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19214866 19214867 rs150025835 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19214894 19214895 rs190707662 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19214914 19214915 rs243623 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499017 0.022143 intron exact 1 30 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2615.000000,2393.000000, 0.522165,0.477835, maf-5-some-pop,maf-5-all-pops 731 chr21 19214921 19214922 rs753127677 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214924 19214925 rs756511448 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19214936 19214937 rs243624 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.38821 0.208322 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3688.000000,1320.000000, 0.736422,0.263578, maf-5-some-pop 731 chr21 19214954 19214955 rs527267832 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19214957 19214958 rs181035659 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19214975 19214976 rs187159233 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19214982 19214983 rs757271508 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19215061 19215062 rs531394498 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19215094 19215095 rs562786205 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19215096 19215097 rs146637308 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19215099 19215100 rs532143644 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19215124 19215125 rs73315681 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 731 chr21 19215163 19215164 rs370183723 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19215164 19215165 rs141479468 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19215165 19215166 rs191077893 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19215172 19215173 rs539720945 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19215182 19215183 rs865835649 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19215214 19215215 rs28561685 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.379746 0.213696 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1276.000000,3732.000000, 0.254792,0.745208, maf-5-some-pop 731 chr21 19215239 19215240 rs569728143 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19215252 19215253 rs796535942 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19215255 19215256 rs527704710 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19215266 19215274 rs145955436 0 + GTATGAGC GTATGAGC -/GTATGAGC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 731 chr21 19215270 19215271 rs769775582 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19215343 19215344 rs143894021 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19215358 19215359 rs555469237 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19215403 19215404 rs574161546 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19215447 19215448 rs561145377 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19215480 19215481 rs534946759 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19215486 19215487 rs553625052 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19215498 19215499 rs578149803 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19215505 19215506 rs762995252 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19215506 19215507 rs545726082 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19215508 19215509 rs9979233 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WUGSC_SSAHASNP, 2 C,T, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 731 chr21 19215546 19215547 rs576129762 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19215559 19215560 rs543524303 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19215600 19215601 rs561668365 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19215654 19215655 rs199685660 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19215683 19215684 rs773942652 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19215698 19215699 rs771866103 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19215711 19215712 rs9979779 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 731 chr21 19215715 19215716 rs767168211 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19215778 19215779 rs547837966 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19215779 19215780 rs775191122 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19215806 19215807 rs182727391 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19215811 19215812 rs187404499 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 34.000000,4974.000000, 0.006789,0.993211, 731 chr21 19215814 19215815 rs62212952 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.102726 0.202016 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4736.000000,272.000000, 0.945687,0.054313, maf-5-some-pop 731 chr21 19215816 19215817 rs764457965 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19215929 19215930 rs243625 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.388775 0.207946 intron exact 1 23 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3685.000000,1323.000000, 0.735823,0.264177, maf-5-some-pop 731 chr21 19215956 19215957 rs551281126 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19215957 19215958 rs243626 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.385741 0.209939 intron exact 1 23 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1307.000000,3701.000000, 0.260982,0.739018, maf-5-some-pop 731 chr21 19215970 19215971 rs537081269 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19215995 19215996 rs754278200 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19216035 19216036 rs757816655 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19216041 19216042 rs28625775 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 73.000000,4935.000000, 0.014577,0.985423, 731 chr21 19216070 19216071 rs28643367 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 75.000000,4933.000000, 0.014976,0.985024, 731 chr21 19216078 19216079 rs116196011 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.080715 0.183963 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4797.000000,211.000000, 0.957867,0.042133, maf-5-some-pop 731 chr21 19216085 19216085 rs201667361 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 -,T, 4933.000000,75.000000, 0.985024,0.014976, 731 chr21 19216111 19216112 rs553252408 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19216126 19216127 rs780315026 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19216151 19216152 rs243627 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.022114 0.102801 intron exact 1 15 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,KWOK,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 56.000000,4952.000000, 0.011182,0.988818, 731 chr21 19216152 19216153 rs539311083 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19216161 19216164 rs538517705 0 + ATT ATT -/ATT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 731 chr21 19216209 19216210 rs755912296 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19216314 19216315 rs189975183 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19216325 19216326 rs114295141 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 35.000000,4973.000000, 0.006989,0.993011, 731 chr21 19216341 19216342 rs73890700 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 731 chr21 19216365 19216366 rs138110829 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19216383 19216384 rs561820512 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19216388 19216389 rs776050993 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19216401 19216402 rs796243092 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19216416 19216417 rs763482304 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19216441 19216442 rs188368550 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19216443 19216444 rs541135457 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19216484 19216485 rs192251899 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19216493 19216494 rs749196167 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19216510 19216511 rs552460994 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19216532 19216533 rs143771230 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19216541 19216542 rs775023160 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19216566 19216567 rs183003658 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 0 731 chr21 19216567 19216568 rs187874889 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19216584 19216585 rs563283463 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19216628 19216629 rs530809489 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19216643 19216644 rs549059325 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19216673 19216674 rs192518867 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19216676 19216677 rs567661201 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19216706 19216706 rs796264296 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 731 chr21 19216714 19216714 rs376847773 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 731 chr21 19216753 19216754 rs540218112 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19216773 19216774 rs547092990 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19216786 19216787 rs571849086 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19216853 19216854 rs539273051 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19216855 19216856 rs534298610 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19216859 19216860 rs116400172 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 731 chr21 19216878 19216879 rs569620089 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19216923 19216924 rs759925074 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19216925 19216926 rs574723005 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19216932 19216933 rs536952771 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19216940 19216941 rs768002352 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19216973 19216974 rs11088656 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.370365 0.219117 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3779.000000,1229.000000, 0.754593,0.245407, maf-5-some-pop 731 chr21 19216981 19216982 rs243628 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.497907 0.03228 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2342.000000,2666.000000, 0.467652,0.532348, maf-5-some-pop,maf-5-all-pops 731 chr21 19217006 19217007 rs76172817 0 + C C A/C genomic single by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 46.000000,4962.000000, 0.009185,0.990815, maf-5-some-pop 731 chr21 19217041 19217042 rs764404967 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19217086 19217087 rs553065654 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19217093 19217094 rs777004895 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19217109 19217110 rs577405128 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217131 19217132 rs147213308 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217144 19217145 rs138680948 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 G,T, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19217163 19217164 rs765748311 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19217175 19217176 rs376261806 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19217178 19217179 rs113786468 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 731 chr21 19217244 19217245 rs144500921 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19217255 19217256 rs113214682 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19217258 19217259 rs115233768 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 43.000000,4965.000000, 0.008586,0.991414, 731 chr21 19217271 19217272 rs546765445 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19217286 19217287 rs71319661 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19217294 19217295 rs571812734 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19217304 19217305 rs556295320 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19217306 19217307 rs532752157 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217315 19217316 rs576590572 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19217328 19217329 rs370398303 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19217329 19217330 rs569486056 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19217341 19217342 rs545346297 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19217348 19217349 rs536515593 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217368 19217369 rs114201621 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 731 chr21 19217373 19217374 rs764213687 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19217405 19217406 rs111962645 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 731 chr21 19217419 19217420 rs74529532 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19217428 19217429 rs184372006 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19217450 19217451 rs552790312 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19217470 19217471 rs726280 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.371785 0.218331 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3772.000000,1236.000000, 0.753195,0.246805, maf-5-some-pop 731 chr21 19217492 19217493 rs544712578 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217493 19217494 rs189165405 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19217527 19217528 rs575118915 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19217541 19217542 rs777661760 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19217565 19217566 rs369182703 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19217566 19217567 rs546553817 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19217592 19217593 rs142562725 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217604 19217605 rs745808294 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19217606 19217607 rs112533463 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4965.000000,43.000000, 0.991414,0.008586, 731 chr21 19217621 19217622 rs528469470 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217655 19217656 rs561311537 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19217669 19217670 rs540672638 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217671 19217672 rs111342261 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 731 chr21 19217693 19217694 rs28658365 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 731 chr21 19217704 19217705 rs112687797 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19217706 19217707 rs569449584 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19217711 19217712 rs193184456 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19217726 19217727 rs113312473 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19217746 19217747 rs548591528 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19217755 19217756 rs567200620 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19217782 19217783 rs758184882 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19217791 19217792 rs112071140 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19217833 19217834 rs113858167 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19217855 19217856 rs570927084 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19217868 19217869 rs746612944 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19217871 19217872 rs538320400 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19217891 19217892 rs111674857 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 731 chr21 19218026 19218027 rs140453152 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19218027 19218028 rs762237866 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218030 19218031 rs770118776 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218086 19218087 rs184696564 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19218157 19218158 rs779770766 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19218190 19218191 rs149972625 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 4976.000000,32.000000, 0.993610,0.006390, 731 chr21 19218217 19218218 rs190016535 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19218232 19218233 rs763376455 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218268 19218269 rs796933973 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19218321 19218322 rs540169231 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19218355 19218356 rs545824398 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19218402 19218403 rs180846884 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19218423 19218424 rs145248751 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 731 chr21 19218440 19218441 rs867035227 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19218488 19218489 rs766529073 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218489 19218490 rs112316077 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19218504 19218505 rs746647278 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19218517 19218518 rs149177424 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19218518 19218519 rs550307394 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19218575 19218576 rs563008641 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19218582 19218583 rs751712768 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218594 19218595 rs759739557 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218609 19218610 rs530227901 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19218653 19218654 rs13050760 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 731 chr21 19218717 19218720 rs796191261 0 + ATC ATC -/ATC genomic deletion unknown 0 0 intron range 1 1 PADH-LAB_SPU, 0 731 chr21 19218718 19218719 rs143284553 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19218723 19218724 rs767817752 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218725 19218726 rs560529441 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 14.000000,4994.000000, 0.002796,0.997204, 731 chr21 19218726 19218727 rs868350540 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19218830 19218831 rs185091971 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19218836 19218837 rs552474694 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19218926 19218927 rs778575488 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19218979 19218980 rs570890201 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19219020 19219021 rs750332559 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219050 19219051 rs189174010 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19219067 19219068 rs181923539 0 + A A A/C genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,C, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19219118 19219119 rs112905062 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19219161 19219162 rs758350857 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219171 19219172 rs568982788 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19219172 19219173 rs535971864 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19219178 19219179 rs747615357 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19219189 19219190 rs2824508 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.024843 0.108648 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP, 2 C,T, 4945.000000,63.000000, 0.987420,0.012580, maf-5-some-pop 731 chr21 19219213 19219214 rs572970980 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19219215 19219216 rs746488100 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219220 19219221 rs138139778 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19219222 19219223 rs558922582 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19219267 19219268 rs577298155 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19219282 19219283 rs780813974 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219322 19219323 rs760190926 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19219384 19219385 rs185753012 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19219422 19219423 rs532358679 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19219430 19219431 rs7279201 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.394354 0.204112 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 1353.000000,3655.000000, 0.270168,0.729832, maf-5-some-pop 731 chr21 19219454 19219455 rs574834090 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19219476 19219477 rs770131839 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219478 19219479 rs2824509 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.394354 0.204112 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1353.000000,3655.000000, 0.270168,0.729832, maf-5-some-pop 731 chr21 19219520 19219521 rs142141335 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19219527 19219528 rs763469835 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219548 19219549 rs534642960 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219570 19219571 rs775039227 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219574 19219575 rs759675143 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219575 19219576 rs527907606 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19219632 19219633 rs373791608 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA-GONL,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19219677 19219678 rs146197909 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 G,T, 4980.000000,28.000000, 0.994409,0.005591, 731 chr21 19219682 19219683 rs190406105 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 3 1000GENOMES,EVA-GONL,EVA_DECODE, 0 731 chr21 19219682 19219682 rs138128561 0 + - - -/C genomic insertion unknown 0 0 intron between 1 MixedObserved 1 PJP, 0 731 chr21 19219683 19219684 rs183801668 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19219697 19219698 rs138887641 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19219712 19219713 rs141153589 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19219718 19219719 rs373286511 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19219729 19219730 rs116848022 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 731 chr21 19219735 19219736 rs566641509 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19219754 19219755 rs534018234 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19219819 19219820 rs2824510 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.395453 0.203331 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1359.000000,3649.000000, 0.271366,0.728634, maf-5-some-pop 731 chr21 19219822 19219823 rs570712142 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19219867 19219868 rs570479859 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19219888 19219889 rs538145410 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19219913 19219914 rs556486676 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19219933 19219934 rs137898592 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19219975 19219976 rs149493536 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19219976 19219977 rs765030542 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19219977 19219978 rs62212953 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.103082 0.202275 intron exact 1 13 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4735.000000,273.000000, 0.945487,0.054513, maf-5-some-pop 731 chr21 19220048 19220049 rs572296672 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19220060 19220061 rs779959115 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220100 19220101 rs546035278 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220109 19220110 rs186314041 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037277 intron exact 1 SingleClassTriAllelic 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 3 C,G,T, 5001.000000,5.000000,2.000000, 0.998602,0.000998,0.000399, 731 chr21 19220126 19220128 rs558925107 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220134 19220135 rs765364555 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19220137 19220138 rs866497258 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19220139 19220140 rs531859744 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19220235 19220236 rs543724959 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19220293 19220294 rs562479128 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19220309 19220310 rs780575900 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220317 19220318 rs529689044 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220351 19220352 rs548255017 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19220352 19220353 rs566490938 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220361 19220362 rs145961739 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19220384 19220385 rs552360064 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220436 19220437 rs570675914 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220447 19220448 rs750343579 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19220459 19220460 rs373077367 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19220467 19220468 rs747799413 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220477 19220478 rs538108720 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220524 19220525 rs760167018 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220527 19220528 rs73890701 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19220528 19220529 rs142105872 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19220545 19220546 rs114238619 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 30.000000,4978.000000, 0.005990,0.994010, 731 chr21 19220546 19220547 rs572694514 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19220554 19220555 rs554237745 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220587 19220588 rs758379566 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19220610 19220611 rs769356315 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220623 19220624 rs777532381 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220641 19220642 rs572163124 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220715 19220716 rs545903931 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19220716 19220717 rs749639309 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220723 19220724 rs771489445 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220773 19220774 rs774941142 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220781 19220782 rs557900376 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220782 19220783 rs746381004 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220788 19220789 rs772237510 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220797 19220798 rs243629 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49941 0.017162 intron exact 1 31 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2590.000000,2418.000000, 0.517173,0.482827, maf-5-some-pop,maf-5-all-pops 731 chr21 19220815 19220816 rs760855566 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220888 19220889 rs544076408 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19220962 19220963 rs764187995 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220965 19220966 rs562282507 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19220972 19220973 rs776975476 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19220976 19220977 rs146395572 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19221000 19221001 rs191600944 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19221012 19221013 rs560199369 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19221015 19221016 rs751434940 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221049 19221050 rs527346620 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19221054 19221055 rs754941961 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221065 19221066 rs865922630 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19221071 19221072 rs148573510 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19221138 19221139 rs182345672 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19221150 19221151 rs202107293 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19221151 19221152 rs531570994 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19221165 19221166 rs767006746 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221205 19221206 rs568265810 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19221215 19221217 rs376495266 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 731 chr21 19221250 19221251 rs554961375 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19221256 19221257 rs112279342 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19221264 19221265 rs568311722 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19221292 19221293 rs535744348 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19221311 19221312 rs200192715 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19221349 19221350 rs151047264 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19221365 19221366 rs113940683 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 3 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19221384 19221385 rs777287139 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221399 19221400 rs543695354 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19221475 19221476 rs748962416 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221543 19221544 rs111913371 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19221559 19221560 rs557861581 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19221575 19221576 rs375284672 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19221583 19221584 rs200983400 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19221600 19221601 rs186820731 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19221603 19221604 rs144744022 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19221635 19221636 rs751270351 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19221638 19221639 rs9982048 0 + A A A/G genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 A, 420.000000, 1.000000, 731 chr21 19221640 19221641 rs574209776 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19221650 19221651 rs541724847 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19221688 19221689 rs560162750 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19221691 19221692 rs572098686 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19221702 19221703 rs76642092 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19221704 19221705 rs368205719 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19221725 19221726 rs377273620 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19221743 19221744 rs868282511 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19221755 19221756 rs147894457 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19221768 19221769 rs531531487 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19221773 19221774 rs192397965 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19221830 19221831 rs574902153 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19221835 19221836 rs243630 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499 0.022342 intron exact 1 22 1000GENOMES,ABI,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2392.000000,2616.000000, 0.477636,0.522364, maf-5-some-pop,maf-5-all-pops 731 chr21 19221837 19221838 rs529143081 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19221838 19221839 rs145910060 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 731 chr21 19221849 19221850 rs746325868 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221860 19221861 rs772434079 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221894 19221895 rs145564335 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19221913 19221914 rs539486943 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19221938 19221939 rs183305180 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19221950 19221951 rs569766339 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19221967 19221968 rs776101720 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221970 19221971 rs148914035 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 731 chr21 19221997 19221998 rs532532720 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19221998 19221999 rs768834666 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222003 19222004 rs188036079 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 731 chr21 19222016 19222017 rs776663392 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222049 19222050 rs545971265 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19222061 19222062 rs762031119 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222062 19222063 rs112447825 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19222068 19222069 rs534985264 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19222098 19222099 rs192890073 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222099 19222100 rs572061530 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222172 19222173 rs574684969 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19222173 19222174 rs2824512 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.372592 0.217879 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3768.000000,1240.000000, 0.752396,0.247604, maf-5-some-pop 731 chr21 19222185 19222186 rs185484816 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222210 19222211 rs576015459 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19222225 19222226 rs543522501 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19222227 19222228 rs561706820 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222270 19222271 rs769424632 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19222282 19222283 rs774157131 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222317 19222318 rs147988112 0 + A A A/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,T, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19222327 19222328 rs189386055 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222328 19222329 rs111825813 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19222336 19222337 rs533057918 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222344 19222345 rs192931486 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222389 19222390 rs183511906 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222393 19222394 rs144688566 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19222426 19222427 rs113785200 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19222428 19222429 rs138559320 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222430 19222431 rs752747612 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222441 19222442 rs188244728 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222470 19222471 rs535263040 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222481 19222482 rs2824513 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.384785 0.210554 intron exact 1 MixedObserved 15 1000GENOMES,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 3706.000000,1302.000000, 0.740016,0.259984, maf-5-some-pop 731 chr21 19222481 19222483 rs35743719 0 + CA CA CA/GG genomic mnp by-cluster 0.5 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 4 ABI,HAMMER_LAB,HUMANGENOME_JCVI,TISHKOFF, 2 CA,GG, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19222482 19222483 rs2824514 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.470132 0.118498 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1892.000000,3116.000000, 0.377796,0.622204, maf-5-some-pop,maf-5-all-pops 731 chr21 19222547 19222548 rs539350971 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19222604 19222605 rs78939197 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 731 chr21 19222634 19222635 rs9976341 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.474091 0.11083 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3074.000000,1934.000000, 0.613818,0.386182, maf-5-some-pop,maf-5-all-pops 731 chr21 19222649 19222650 rs776099513 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19222659 19222660 rs568607917 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19222683 19222684 rs112553710 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19222703 19222704 rs555476763 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19222711 19222712 rs573748781 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19222714 19222715 rs34579258 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.47726 0.104176 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1970.000000,3038.000000, 0.393371,0.606629, maf-5-some-pop,maf-5-all-pops 731 chr21 19222735 19222736 rs559129973 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19222737 19222738 rs550338598 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222755 19222756 rs758861946 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222821 19222822 rs780408493 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222832 19222833 rs180941841 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19222859 19222860 rs747560865 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19222922 19222923 rs112189366 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19222943 19222944 rs17768256 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.102726 0.202016 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 G,T, 272.000000,4736.000000, 0.054313,0.945687, maf-5-some-pop 731 chr21 19222981 19222982 rs9976641 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.029116 0.117091 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 74.000000,4934.000000, 0.014776,0.985224, maf-5-some-pop 731 chr21 19222986 19222987 rs530968452 0 + C C A/C genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,C, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19222991 19222992 rs11909500 0 + T T G/T genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 731 chr21 19223016 19223017 rs529826525 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 -,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19223024 19223025 rs549200206 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19223031 19223032 rs371931956 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19223049 19223049 rs776826313 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 731 chr21 19223059 19223060 rs375591652 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19223092 19223093 rs186190607 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19223135 19223136 rs36111647 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.373397 0.217424 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,T, 1244.000000,3764.000000, 0.248403,0.751597, maf-5-some-pop 731 chr21 19223142 19223143 rs398081475 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 BGI, 0 731 chr21 19223143 19223144 rs397866915 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 731 chr21 19223144 19223145 rs201475866 0 + G G -/G genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19223153 19223154 rs762076392 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19223162 19223163 rs559059708 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19223180 19223181 rs547175401 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 19.000000,4989.000000, 0.003794,0.996206, 731 chr21 19223181 19223182 rs769984909 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19223207 19223208 rs773464861 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19223227 19223228 rs190796089 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19223244 19223245 rs113064841 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19223284 19223285 rs759247706 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19223285 19223286 rs557666303 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19223317 19223318 rs376579137 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19223328 19223329 rs537092785 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19223340 19223341 rs139354199 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19223412 19223413 rs573637477 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19223452 19223453 rs149649260 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19223474 19223475 rs111255153 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19223477 19223478 rs577441413 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19223521 19223522 rs181706481 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19223545 19223546 rs563794645 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19223546 19223547 rs112066788 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19223578 19223579 rs566286891 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19223598 19223599 rs571840443 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19223600 19223601 rs542961188 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19223604 19223605 rs13433450 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.029116 0.117091 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 74.000000,4934.000000, 0.014776,0.985224, maf-5-some-pop 731 chr21 19223654 19223655 rs114342402 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 731 chr21 19223655 19223656 rs761446595 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19223656 19223657 rs547140236 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19223661 19223662 rs763123037 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19223666 19223667 rs565459612 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19223674 19223675 rs535300586 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19223700 19223701 rs369791851 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19223703 19223704 rs554360350 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19223781 19223782 rs577440589 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19223801 19223802 rs201319300 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19223810 19223811 rs144580269 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19223831 19223832 rs186969121 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19223857 19223858 rs113856910 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19223892 19223893 rs74568477 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.041819 0.138422 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4901.000000,107.000000, 0.978634,0.021366, maf-5-some-pop 731 chr21 19223902 19223903 rs552683703 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19223908 19223909 rs555324539 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19223911 19223912 rs577405066 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19223917 19223918 rs538493557 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19223924 19223925 rs556880319 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19223937 19223938 rs575455182 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19223944 19223945 rs575239718 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19223949 19223950 rs561308563 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19224060 19224061 rs780476167 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19224080 19224081 rs112165276 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.237593 0.249692 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 690.000000,4318.000000, 0.137780,0.862220, maf-5-some-pop 731 chr21 19224135 19224136 rs191011504 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19224234 19224235 rs111641916 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19224260 19224262 rs796882385 0 + AT AT -/AT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 3 1000GENOMES,LUNTER,SSMP, 0 731 chr21 19224261 19224262 rs113732630 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19224261 19224262 rs148408345 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.140919 0.224948 intron exact 1 MixedObserved 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,T, 382.000000,4626.000000, 0.076278,0.923722, maf-5-some-pop,maf-5-all-pops 731 chr21 19224261 19224261 rs150862601 0 + - - -/AT/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 DDI, 0 731 chr21 19224275 19224276 rs532752434 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19224276 19224277 rs4818385 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.392511 0.205404 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3665.000000,1343.000000, 0.731829,0.268171, maf-5-some-pop 731 chr21 19224394 19224395 rs748197019 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19224419 19224420 rs562954162 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19224465 19224466 rs769930385 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19224479 19224480 rs545986616 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19224481 19224482 rs2824515 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.372592 0.217879 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1240.000000,3768.000000, 0.247604,0.752396, maf-5-some-pop 731 chr21 19224497 19224498 rs151205450 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19224509 19224512 rs548846571 0 + CTT CTT -/CTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron range 1 2 1000GENOMES,HAMMER_LAB, 2 -,CTT, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19224511 19224514 rs373684936 0 + TCT TCT -/TCT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 731 chr21 19224529 19224530 rs140277676 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19224530 19224531 rs183318839 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19224534 19224535 rs150381475 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19224542 19224543 rs771723501 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19224545 19224546 rs75555894 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 731 chr21 19224549 19224550 rs570963686 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19224553 19224554 rs112766776 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19224612 19224613 rs144644715 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 731 chr21 19224660 19224661 rs557084712 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19224663 19224664 rs568980975 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19224719 19224720 rs111547511 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19224721 19224722 rs554938972 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19224743 19224744 rs185818276 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19224769 19224770 rs528289636 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19224791 19224792 rs775377935 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19224857 19224858 rs541647883 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19224873 19224874 rs768682448 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19224925 19224926 rs558998708 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19224936 19224937 rs55653623 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.392325 0.205532 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1342.000000,3666.000000, 0.267971,0.732029, maf-5-some-pop 731 chr21 19224954 19224954 rs34916244 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19224957 19224958 rs768886295 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19224960 19224961 rs112398300 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19224995 19224996 rs200531146 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19224998 19224999 rs563074021 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225035 19225036 rs112341594 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19225089 19225090 rs11701608 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.376791 0.215463 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3747.000000,1261.000000, 0.748203,0.251797, maf-5-some-pop 731 chr21 19225104 19225105 rs570355618 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19225121 19225122 rs560496323 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225134 19225134 rs534388330 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,C, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19225158 19225159 rs762701722 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19225183 19225184 rs527980739 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225190 19225191 rs769962760 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19225259 19225260 rs182466397 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225263 19225264 rs1387615 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.19646 0.2442 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 553.000000,4455.000000, 0.110423,0.889577, maf-5-some-pop,genotype-conflict 731 chr21 19225275 19225276 rs532206481 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19225295 19225296 rs534739295 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225346 19225348 rs538703877 0 + TA TA -/TA genomic deletion by-frequency,by-1000genomes 0.003986 0.044463 intron range 1 1 1000GENOMES, 2 -,TA, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19225347 19225348 rs569019531 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225372 19225373 rs536100264 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19225385 19225386 rs370193210 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WARNICH_LAB, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19225389 19225390 rs566729873 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19225401 19225402 rs534092289 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225413 19225414 rs187894200 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19225427 19225428 rs751932608 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19225455 19225456 rs755340978 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19225456 19225457 rs781663302 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19225563 19225564 rs62215880 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.096293 0.197165 intron exact 1 13 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4754.000000,254.000000, 0.949281,0.050719, maf-5-some-pop 731 chr21 19225576 19225577 rs566250055 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19225597 19225597 rs111241044 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.387074 0.209071 intron between 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,T, 3694.000000,1314.000000, 0.737620,0.262380, maf-5-some-pop,maf-5-all-pops 731 chr21 19225604 19225604 rs75008051 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 BGI, 0 731 chr21 19225638 19225639 rs111982825 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.372391 0.217992 intron exact 1 12 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3769.000000,1239.000000, 0.752596,0.247404, maf-5-some-pop 731 chr21 19225649 19225650 rs192309320 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225670 19225670 rs75709154 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 BGI, 0 731 chr21 19225671 19225672 rs372520394 0 + T T C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 731 chr21 19225671 19225674 rs755081519 0 + TCC TCC -/TCC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19225671 19225673 rs796585029 0 + TC TC -/TC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19225671 19225671 rs71189564 0 + - - -/C genomic insertion by-cluster,by-1000genomes 0.000399 0.014124 intron between 1 MixedObserved 14 1000GENOMES,BILGI_BIOE,BL,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225672 19225673 rs375095609 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 731 chr21 19225672 19225672 rs68119671 0 + - - -/C/TC genomic insertion unknown 0 0 intron between 1 MixedObserved 1 PJP, 0 731 chr21 19225682 19225682 rs71189565 0 + - - -/C genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 8 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,TISHKOFF, 2 -,C, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19225683 19225683 rs66771528 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 PJP, 0 731 chr21 19225687 19225688 rs574980746 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19225688 19225689 rs542105939 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225690 19225691 rs560303963 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19225693 19225693 rs150217426 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.473359 0.112298 intron between 1 2 1000GENOMES,BL, 2 -,T, 3082.000000,1926.000000, 0.615415,0.384585, maf-5-some-pop,maf-5-all-pops 731 chr21 19225694 19225696 rs796810507 0 + GG GG CGT/GG/TGT genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 731 chr21 19225694 19225694 rs35963301 0 + - - -/C/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.473359 0.112298 intron between 1 MixedObserved,InconsistentAlleles 5 1000GENOMES,ABI,BILGI_BIOE,PADH-LAB_SPU,SSIP, 2 -,C, 1926.000000,3082.000000, 0.384585,0.615415, maf-5-some-pop,maf-5-all-pops 731 chr21 19225695 19225696 rs62215881 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 6 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,ENSEMBL,EVA_GENOME_DK, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19225695 19225697 rs796295726 0 + GG GG CGT/GG/TGT genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 TISHKOFF, 0 731 chr21 19225715 19225715 rs67020005 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0.000399 0.014124 intron between 1 14 1000GENOMES,BILGI_BIOE,BL,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225726 19225727 rs7277577 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.384209 0.210922 intron exact 1 14 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3709.000000,1299.000000, 0.740615,0.259385, maf-5-some-pop 731 chr21 19225729 19225730 rs243631 0 + A A A/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 24 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19225767 19225768 rs531976039 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225771 19225772 rs766485980 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19225775 19225776 rs188727783 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19225795 19225796 rs9983268 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19225803 19225804 rs192615439 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225806 19225807 rs183898374 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225807 19225808 rs537392584 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19225853 19225854 rs534104329 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19225863 19225864 rs111912606 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19225878 19225879 rs373062224 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19225879 19225880 rs570836333 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19225883 19225884 rs374541623 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19225949 19225950 rs80264850 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19225961 19225962 rs112467029 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 731 chr21 19226077 19226078 rs574876226 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19226100 19226101 rs187144494 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19226115 19226116 rs779043329 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226120 19226121 rs34451065 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.392696 0.205275 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3664.000000,1344.000000, 0.731629,0.268371, maf-5-some-pop 731 chr21 19226150 19226151 rs572276111 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19226205 19226206 rs191245234 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19226264 19226265 rs564581929 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19226273 19226274 rs576773027 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19226314 19226315 rs114900690 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19226338 19226339 rs776648140 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226344 19226345 rs748098304 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226366 19226367 rs183791417 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19226384 19226385 rs73890702 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19226388 19226389 rs548281896 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19226406 19226407 rs113802311 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19226407 19226408 rs527444384 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19226439 19226440 rs552504393 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19226449 19226450 rs141927769 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 MixedObserved 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19226449 19226451 rs386816707 0 + GC GC AT/GC genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19226450 19226451 rs13047034 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.49907 0.021545 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2396.000000,2612.000000, 0.478435,0.521565, maf-5-some-pop,maf-5-all-pops 731 chr21 19226451 19226452 rs75277846 0 + G G A/G genomic single by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19226459 19226460 rs762422608 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226536 19226537 rs756008159 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19226585 19226586 rs568420843 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19226597 19226598 rs766027318 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226644 19226645 rs111227488 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19226652 19226653 rs773944175 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226777 19226778 rs759883139 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226819 19226820 rs185029781 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19226823 19226824 rs2824516 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.384209 0.210922 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3709.000000,1299.000000, 0.740615,0.259385, maf-5-some-pop 731 chr21 19226861 19226862 rs111867106 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19226865 19226866 rs867148877 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19226915 19226916 rs143314712 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19226925 19226926 rs778541032 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19226947 19226948 rs147468495 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19226949 19226950 rs764634027 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19226976 19226977 rs561593845 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19227005 19227006 rs112738379 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19227027 19227028 rs11088657 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.238749 0.249747 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 694.000000,4314.000000, 0.138578,0.861422, maf-5-some-pop 731 chr21 19227045 19227046 rs544187719 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 731 chr21 19227055 19227056 rs746089982 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227082 19227083 rs796834395 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 731 chr21 19227087 19227088 rs201406307 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 DuplicateObserved 2 GMI,HAMMER_LAB, 0 731 chr21 19227087 19227087 rs745739832 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 DuplicateObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 731 chr21 19227088 19227088 rs35895959 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 GMI,PJP, 0 731 chr21 19227099 19227099 rs397787216 0 + - - -/T genomic insertion unknown 0 0 intron between 1 2 ABI,HGSV, 0 731 chr21 19227123 19227124 rs190317075 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227130 19227131 rs562369174 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227139 19227140 rs111406145 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19227149 19227151 rs562371590 0 + GA GA -/GA genomic deletion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 -,GA, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19227151 19227153 rs112845024 0 + GA GA -/GA genomic deletion by-cluster 0.5 0 intron range 1 2 BUSHMAN,TISHKOFF, 2 -,GA, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19227166 19227167 rs549595695 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19227176 19227177 rs181717708 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19227190 19227191 rs563229255 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PADH-LAB_SPU, 0 731 chr21 19227243 19227244 rs564075246 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19227262 19227263 rs748053112 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227290 19227291 rs185674675 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,MPI_MOLGEN, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19227305 19227306 rs527379949 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19227381 19227382 rs773065103 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227384 19227385 rs552128331 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227397 19227398 rs76757529 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19227399 19227400 rs548544319 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19227400 19227401 rs531536407 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19227477 19227478 rs781686604 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19227496 19227497 rs546604170 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19227503 19227504 rs770407175 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227518 19227519 rs142593778 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19227530 19227531 rs534381509 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19227531 19227532 rs35218903 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 731 chr21 19227534 19227535 rs190442655 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19227557 19227558 rs560274162 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19227630 19227631 rs547487067 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227660 19227660 rs57772252 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 731 chr21 19227663 19227664 rs565880750 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227664 19227665 rs539535036 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227680 19227681 rs759193232 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227705 19227706 rs180691114 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19227742 19227743 rs367835333 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 -,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19227797 19227798 rs570207241 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227811 19227812 rs141161420 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19227816 19227817 rs775809108 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227829 19227830 rs761066430 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227831 19227832 rs555987100 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19227840 19227841 rs529039526 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19227844 19227845 rs548799070 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19227849 19227850 rs541895040 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19227889 19227890 rs186124785 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19227906 19227907 rs113638195 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19227948 19227949 rs112803584 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19227967 19227968 rs765232316 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19227992 19227993 rs140223080 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19228048 19228049 rs564148814 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228085 19228086 rs115701513 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19228106 19228107 rs868654700 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19228107 19228108 rs770155269 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19228122 19228123 rs191847439 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228142 19228143 rs184148807 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228145 19228146 rs150327798 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228158 19228159 rs547425907 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19228177 19228178 rs2824517 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.45692 0.1403 intron exact 1 34 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1769.000000,3239.000000, 0.353235,0.646765, maf-5-some-pop,maf-5-all-pops 731 chr21 19228187 19228188 rs749592227 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19228197 19228198 rs770903719 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19228234 19228235 rs137962322 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228241 19228242 rs372335720 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19228245 19228246 rs537711030 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19228279 19228280 rs551009983 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19228287 19228288 rs149192717 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19228302 19228303 rs571149116 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19228340 19228341 rs78819719 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19228354 19228355 rs555680759 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19228373 19228374 rs77598343 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 731 chr21 19228429 19228430 rs535321355 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228437 19228438 rs74778553 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19228459 19228460 rs758720453 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19228473 19228474 rs553831881 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19228541 19228542 rs774539509 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19228546 19228547 rs780477306 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19228620 19228621 rs759365318 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19228644 19228645 rs188892299 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 0 731 chr21 19228653 19228654 rs752511540 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19228669 19228670 rs191770931 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19228672 19228673 rs139235850 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19228673 19228674 rs202188626 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19228678 19228679 rs545596056 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228747 19228748 rs557792713 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19228767 19228768 rs576159206 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228805 19228806 rs368294203 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19228813 19228813 rs397867255 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19228814 19228815 rs543646865 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228857 19228858 rs183023660 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19228863 19228864 rs777755107 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19228868 19228869 rs775593802 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19228882 19228883 rs187007791 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228927 19228928 rs191682345 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19228954 19228955 rs559340130 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19228959 19228960 rs12482182 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.112983 0.209108 intron exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4707.000000,301.000000, 0.939896,0.060104, maf-5-some-pop 731 chr21 19229040 19229041 rs377105326 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19229067 19229068 rs117842763 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19229122 19229123 rs753415603 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19229169 19229170 rs377226763 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19229177 19229178 rs183474950 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19229182 19229183 rs187920873 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19229194 19229195 rs543179262 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19229279 19229280 rs369817864 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19229280 19229281 rs370096338 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19229329 19229330 rs555102155 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19229366 19229367 rs778318128 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19229370 19229371 rs372536663 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19229382 19229383 rs193041533 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19229383 19229384 rs7279559 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.141934 0.225437 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 385.000000,4623.000000, 0.076877,0.923123, maf-5-some-pop 731 chr21 19229406 19229407 rs115290636 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 135.000000,4873.000000, 0.026957,0.973043, maf-5-some-pop 731 chr21 19229417 19229418 rs547279486 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19229418 19229419 rs7279580 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 6 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 731 chr21 19229427 19229428 rs539371604 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19229477 19229478 rs112969858 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19229479 19229480 rs576125603 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19229495 19229496 rs775188960 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19229496 19229497 rs536730131 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19229499 19229500 rs80133816 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 731 chr21 19229544 19229545 rs757925359 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19229546 19229547 rs761013396 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19229554 19229555 rs111504869 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19229583 19229584 rs573470154 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19229586 19229587 rs112034345 0 + G G A/C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 4 1000GENOMES,BUSHMAN,EVA-GONL,JMKIDD_LAB, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, rs-cluster-nonoverlapping-alleles 731 chr21 19229593 19229594 rs559177132 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19229618 19229619 rs185634462 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19229641 19229642 rs564203735 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19229650 19229651 rs545427346 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19229680 19229681 rs563519058 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19229681 19229682 rs190554306 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19229746 19229747 rs200090903 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 -,A, 21.000000,4987.000000, 0.004193,0.995807, 731 chr21 19229749 19229750 rs549471951 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4986.000000,22.000000, 0.995607,0.004393, 731 chr21 19229759 19229760 rs143796233 0 + T T G/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19229776 19229777 rs528656371 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19229805 19229806 rs74948349 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19229805 19229805 rs201523000 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 MixedObserved 1 1000GENOMES, 0 731 chr21 19229809 19229810 rs181598899 0 + T T A/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19229810 19229811 rs12626899 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494855 0.050457 intron exact 1 MixedObserved 19 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 A,T, 2758.000000,2250.000000, 0.550719,0.449281, maf-5-some-pop,maf-5-all-pops 731 chr21 19229810 19229812 rs762639155 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSMP, 0 731 chr21 19229811 19229812 rs79470330 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 3 1000GENOMES,ENSEMBL,WEILL_CORNELL_DGM, 2 A,T, 4851.000000,157.000000, 0.968650,0.031350, maf-5-some-pop 731 chr21 19229812 19229813 rs551388946 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19229854 19229855 rs538767755 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 -,A, 22.000000,4986.000000, 0.004393,0.995607, 731 chr21 19229870 19229871 rs569525760 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19229876 19229877 rs536769477 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19229884 19229885 rs555007084 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19229899 19229900 rs762253376 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19229933 19229934 rs765308419 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19229942 19229943 rs532863380 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19229949 19229950 rs188519139 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19229963 19229964 rs781620398 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19229974 19229975 rs748656939 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19230008 19230009 rs59819803 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.400859 0.199352 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3619.000000,1389.000000, 0.722644,0.277356, maf-5-some-pop 731 chr21 19230014 19230015 rs150642775 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,WARNICH_LAB,WEILL_CORNELL_DGM, 2 C,T, 4841.000000,167.000000, 0.966653,0.033347, maf-5-some-pop 731 chr21 19230043 19230044 rs139725004 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19230050 19230051 rs111669582 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19230055 19230056 rs563724207 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19230076 19230077 rs545833292 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19230125 19230126 rs751891980 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230138 19230139 rs543153404 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19230150 19230151 rs561319478 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19230155 19230156 rs755882818 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230217 19230218 rs777436524 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230266 19230267 rs376638820 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 731 chr21 19230267 19230268 rs753771327 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230276 19230277 rs113731273 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19230280 19230281 rs757119442 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230287 19230288 rs570266127 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19230305 19230306 rs778948049 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230330 19230331 rs73315700 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19230332 19230333 rs536114990 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19230368 19230369 rs149797204 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19230380 19230381 rs745377481 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230409 19230410 rs528951410 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19230461 19230462 rs559708269 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19230475 19230476 rs114531280 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19230482 19230483 rs550961362 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19230484 19230485 rs749449602 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19230500 19230501 rs7281250 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.017417 0.091681 intron exact 1 8 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, 731 chr21 19230503 19230504 rs530381739 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19230538 19230539 rs139909908 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19230579 19230580 rs769022833 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230616 19230617 rs143512245 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19230725 19230726 rs562232159 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19230729 19230730 rs112221752 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 2 -,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19230735 19230736 rs57411427 0 + A A A/G genomic single by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 2 1000GENOMES,HGSV, 2 A,G, 4940.000000,68.000000, 0.986422,0.013578, maf-5-some-pop 731 chr21 19230793 19230794 rs770172158 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230800 19230801 rs377571288 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19230811 19230812 rs538940350 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19230830 19230831 rs2824518 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.404733 0.196361 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1411.000000,3597.000000, 0.281749,0.718251, maf-5-some-pop 731 chr21 19230849 19230850 rs60093855 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 HGSV, 0 731 chr21 19230866 19230867 rs117506500 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 731 chr21 19230887 19230888 rs189649 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.050191 0.150254 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 129.000000,4879.000000, 0.025759,0.974241, 731 chr21 19230907 19230908 rs571045388 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19230942 19230943 rs768545802 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19230982 19230983 rs759710833 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231047 19231047 rs553576878 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.375598 0.21616 intron between 1 1 1000GENOMES, 2 -,T, 3753.000000,1255.000000, 0.749401,0.250599, maf-5-some-pop 731 chr21 19231048 19231048 rs553988117 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 731 chr21 19231061 19231061 rs35838732 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 ABI,GMI, 0 731 chr21 19231074 19231075 rs554991652 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19231103 19231104 rs533726981 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19231149 19231150 rs2824519 0 + A A A/G genomic single by-frequency,by-submitter 0.345679 0.230967 intron exact 1 1 PERLEGEN, 2 A,G, 7.000000,2.000000, 0.777778,0.222222, 731 chr21 19231164 19231165 rs763902151 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231182 19231183 rs573407265 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19231187 19231188 rs540708264 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19231208 19231209 rs565494442 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19231222 19231223 rs2212394 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.450985 0.148678 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 1720.000000,3288.000000, 0.343450,0.656550, maf-5-some-pop,maf-5-all-pops 731 chr21 19231236 19231237 rs757141379 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231288 19231289 rs544895091 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19231291 19231292 rs563088690 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19231414 19231415 rs530321806 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19231439 19231440 rs189371361 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19231453 19231454 rs566902229 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19231466 19231467 rs181010468 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19231505 19231506 rs5842663 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.410568 0.191619 intron exact 1 MixedObserved 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 1445.000000,3563.000000, 0.288538,0.711462, maf-5-some-pop 731 chr21 19231505 19231506 rs546344327 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 MixedObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,T, 4941.000000,67.000000, 0.986621,0.013379, 731 chr21 19231512 19231513 rs397867910 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 2 ABI,HGSV, 0 731 chr21 19231528 19231535 rs776062241 0 + TGTTTAA TGTTTAA -/TGTTTAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231554 19231555 rs11700400 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.204496 0.245824 intron exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4429.000000,579.000000, 0.884385,0.115615, maf-5-some-pop 731 chr21 19231600 19231601 rs538407634 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19231610 19231611 rs187343129 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19231611 19231612 rs569214379 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19231626 19231627 rs373597374 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19231671 19231672 rs5842664 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.49306 0.058496 intron exact 1 11 1000GENOMES,BILGI_BIOE,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP, 2 -,A, 2799.000000,2209.000000, 0.558906,0.441094, maf-5-some-pop,maf-5-all-pops 731 chr21 19231682 19231684 rs59177115 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HGSV, 0 731 chr21 19231682 19231683 rs76514777 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19231683 19231684 rs397867363 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 2 ABI,HGSV, 0 731 chr21 19231683 19231684 rs869304639 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 731 chr21 19231684 19231685 rs201636415 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,GMI,SSIP,WEILL_CORNELL_DGM, 2 A,T, 90.000000,4918.000000, 0.017971,0.982029, 731 chr21 19231688 19231689 rs779566459 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231697 19231698 rs1029249 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.411074 0.191194 intron exact 1 28 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1448.000000,3560.000000, 0.289137,0.710863, maf-5-some-pop 731 chr21 19231721 19231722 rs754561138 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231738 19231739 rs780940587 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231739 19231740 rs573243005 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19231753 19231754 rs540733253 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19231799 19231800 rs5842665 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.410568 0.191619 intron exact 1 DuplicateObserved 15 1000GENOMES,ABI,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 1445.000000,3563.000000, 0.288538,0.711462, maf-5-some-pop 731 chr21 19231799 19231800 rs869098960 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 731 chr21 19231903 19231904 rs537628339 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19231912 19231915 rs766661470 0 + TCT TCT -/TCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19231927 19231928 rs558737590 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19231959 19231959 rs34314633 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19231979 19231980 rs2249217 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1823.000000,3185.000000, 0.364018,0.635982, maf-5-some-pop,maf-5-all-pops 731 chr21 19231999 19232000 rs191071989 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19232001 19232002 rs563084222 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232004 19232005 rs548727161 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,DDI,SSIP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19232074 19232075 rs749818773 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232075 19232076 rs542090448 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232148 19232149 rs182720076 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19232181 19232182 rs771094967 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232231 19232232 rs774597666 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232237 19232238 rs759712334 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232239 19232240 rs559574627 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19232241 19232242 rs767626929 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232244 19232245 rs528038174 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232264 19232265 rs775839928 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232285 19232286 rs761456195 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232315 19232316 rs546677828 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232346 19232347 rs564877603 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232400 19232401 rs532223368 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232413 19232414 rs550535106 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232425 19232426 rs185895074 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232429 19232430 rs189960335 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232443 19232444 rs577858083 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19232458 19232459 rs183349472 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19232459 19232460 rs758352478 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232462 19232463 rs146747270 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232507 19232508 rs140239548 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232509 19232510 rs577304582 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19232521 19232522 rs202030221 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19232523 19232527 rs759786361 0 + TTCA TTCA -/TTCA genomic deletion by-cluster 0 0 intron range 1 DuplicateObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232523 19232523 rs141163467 0 + - - -/TTCA genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 DuplicateObserved 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,LUNTER,SSMP, 0 731 chr21 19232527 19232527 rs752066909 0 + - - -/TTCA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232600 19232601 rs2186653 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.237014 0.249662 intron exact 1 21 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 688.000000,4320.000000, 0.137380,0.862620, maf-5-some-pop,genotype-conflict 731 chr21 19232641 19232642 rs188083830 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19232656 19232657 rs542128811 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232790 19232791 rs80148709 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 167.000000,4841.000000, 0.033347,0.966653, maf-5-some-pop 731 chr21 19232799 19232800 rs572402083 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232807 19232808 rs539885989 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19232816 19232817 rs796682877 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19232865 19232866 rs564881048 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232873 19232874 rs192698710 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232883 19232884 rs757589000 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19232890 19232891 rs550619450 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232900 19232901 rs562687367 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19232902 19232903 rs754586467 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232913 19232914 rs182765941 0 + G G A/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19232923 19232924 rs780698896 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232924 19232925 rs548403686 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232930 19232931 rs566815739 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19232936 19232937 rs747854569 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19232960 19232961 rs550703193 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19232992 19232993 rs534081413 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233011 19233012 rs779141258 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19233032 19233033 rs756481394 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233042 19233043 rs778314703 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233074 19233075 rs749765780 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233160 19233161 rs552320329 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19233164 19233165 rs79544886 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 45.000000,4963.000000, 0.008986,0.991014, 731 chr21 19233186 19233187 rs537969199 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233200 19233201 rs771544387 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233225 19233226 rs568245280 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19233244 19233245 rs574696984 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19233264 19233265 rs573697148 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19233312 19233313 rs745920993 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233344 19233345 rs553935236 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233370 19233371 rs572683958 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233375 19233376 rs772206443 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233423 19233429 rs746085992 0 + CTGAAA CTGAAA -/CTGAAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19233487 19233488 rs374778986 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19233497 19233498 rs546454998 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19233514 19233515 rs866235071 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19233537 19233538 rs558287850 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233538 19233539 rs576735919 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233544 19233545 rs188880771 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233549 19233550 rs775507564 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233564 19233565 rs562519526 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19233567 19233568 rs73893203 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19233607 19233608 rs542081174 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19233650 19233651 rs78118876 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19233663 19233664 rs150930709 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 731 chr21 19233684 19233685 rs527614183 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19233694 19233695 rs12483405 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.143284 0.226079 intron exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 389.000000,4619.000000, 0.077676,0.922324, maf-5-some-pop 731 chr21 19233699 19233700 rs71319662 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19233727 19233728 rs762774644 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233951 19233952 rs766302430 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19233994 19233995 rs751574834 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234006 19234007 rs55785347 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.141596 0.225274 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4624.000000,384.000000, 0.923323,0.076677, maf-5-some-pop 731 chr21 19234009 19234010 rs866696929 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19234033 19234034 rs531685464 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19234040 19234041 rs549763233 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234093 19234094 rs767062184 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 0 731 chr21 19234095 19234096 rs192556732 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234095 19234098 rs548088796 0 + AAG AAG -/AAG genomic deletion by-frequency,by-1000genomes 0.003588 0.042202 intron range 1 MixedObserved 1 1000GENOMES, 2 -,AAG, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19234128 19234129 rs533564076 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19234146 19234147 rs184403843 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031534 intron exact 1 SingleClassTriAllelic 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 3 A,G,T, 3.000000,5003.000000,2.000000, 0.000599,0.999002,0.000399, 731 chr21 19234147 19234148 rs113949085 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19234158 19234159 rs566330319 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19234189 19234189 rs531473475 0 + - - -/AGCC genomic insertion by-cluster 0 0 intron between 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234190 19234191 rs777619079 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234214 19234215 rs776455228 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19234230 19234231 rs761610859 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19234244 19234245 rs539756729 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19234316 19234316 rs544474018 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19234323 19234324 rs558386925 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19234328 19234329 rs530689760 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19234333 19234334 rs754226132 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234338 19234339 rs535029707 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19234341 19234342 rs576764893 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234382 19234383 rs757752435 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234389 19234390 rs544267960 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234432 19234433 rs556181933 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19234446 19234447 rs550813696 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19234447 19234448 rs73890785 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19234453 19234454 rs779230035 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234466 19234467 rs746389736 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234531 19234532 rs35231247 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 731 chr21 19234559 19234560 rs772001528 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234595 19234596 rs541921508 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234616 19234617 rs560106346 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19234617 19234618 rs527441218 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19234618 19234619 rs545784089 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19234625 19234626 rs772912102 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19234629 19234630 rs564452719 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234631 19234632 rs547800751 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 -,A, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19234657 19234658 rs747137870 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234719 19234720 rs558088222 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19234729 19234730 rs147938165 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19234745 19234746 rs776908515 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19234787 19234788 rs141724403 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234799 19234800 rs80158227 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 G,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19234846 19234847 rs79468530 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19234861 19234862 rs2824520 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.462473 0.13174 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1818.000000,3190.000000, 0.363019,0.636981, maf-5-some-pop,maf-5-all-pops 731 chr21 19234865 19234866 rs533404753 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19234868 19234869 rs372834589 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19234872 19234873 rs138514257 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19234900 19234901 rs566147809 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19234920 19234921 rs189159861 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19234979 19234980 rs558063193 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19235057 19235058 rs770729793 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19235065 19235066 rs374833810 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19235136 19235137 rs537089676 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19235186 19235187 rs192278091 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19235244 19235245 rs537719853 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19235310 19235311 rs751109819 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19235357 19235358 rs556220677 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19235363 19235364 rs184826985 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19235387 19235388 rs201467239 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19235388 19235388 rs765074728 0 + - - -/TG/TGTG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19235419 19235420 rs377531373 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WARNICH_LAB, 0 731 chr21 19235425 19235429 rs58132466 0 + GTGT GTGT -/GTGT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HGSV, 0 731 chr21 19235425 19235428 rs199947922 0 + GTG GTG -/GTG genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 731 chr21 19235429 19235429 rs55881576 0 + - - -/GT/GTGT/GTGTGT/GTGTGTGT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 GTGT, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 731 chr21 19235436 19235443 rs533867188 0 + TTTTTTA TTTTTTA -/TTTTTTA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,TTTTTTA, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19235445 19235446 rs12482475 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.142272 0.225598 intron exact 1 13 1000GENOMES,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 386.000000,4622.000000, 0.077077,0.922923, maf-5-some-pop 731 chr21 19235456 19235457 rs13048174 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.142609 0.225759 intron exact 1 11 1000GENOMES,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4621.000000,387.000000, 0.922724,0.077276, maf-5-some-pop 731 chr21 19235479 19235480 rs572044602 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19235484 19235485 rs570606372 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19235498 19235499 rs536429283 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19235500 19235501 rs189751368 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19235506 19235507 rs143261054 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19235524 19235525 rs2171805 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.493477 0.056735 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2790.000000,2218.000000, 0.557109,0.442891, maf-5-some-pop,maf-5-all-pops 731 chr21 19235526 19235527 rs148296232 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 731 chr21 19235532 19235533 rs141486289 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19235535 19235536 rs561761762 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19235540 19235541 rs529207315 0 + C C C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19235589 19235590 rs547574964 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19235594 19235594 rs58860110 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 731 chr21 19235618 19235619 rs559842538 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19235651 19235652 rs8134443 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.238171 0.24972 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 692.000000,4316.000000, 0.138179,0.861821, maf-5-some-pop 731 chr21 19235689 19235690 rs551979806 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19235700 19235701 rs146326312 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19235714 19235715 rs12482076 0 + A A A/C genomic single by-cluster,by-2hit-2allele,by-hapmap 0 0 intron exact 1 2 CSHL-HAPMAP,SSAHASNP, 0 731 chr21 19235734 19235735 rs139930633 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19235756 19235757 rs13048120 0 + C C A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 C, 416.000000, 1.000000, 731 chr21 19235800 19235801 rs549658125 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19235816 19235817 rs753557219 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19235835 19235836 rs568066351 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19235843 19235844 rs180877647 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19235855 19235856 rs757629405 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19235893 19235894 rs538384705 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19235923 19235924 rs74463295 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19235924 19235925 rs78872285 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19235924 19235924 rs376618424 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 BILGI_BIOE, 0 731 chr21 19235938 19235939 rs76235591 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19235940 19235941 rs35172095 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 4 BILGI_BIOE,BUSHMAN,GMI,PJP, 1 -, 2.000000, 1.000000, 731 chr21 19235940 19235942 rs201575121 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.498084 0.030891 intron range 1 MixedObserved 2 1000GENOMES,GMI, 2 -,TT, 2349.000000,2659.000000, 0.469050,0.530950, maf-5-some-pop,maf-5-all-pops 731 chr21 19235940 19235943 rs779847867 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19235941 19235942 rs74466899 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19235941 19235943 rs756333713 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19235942 19235943 rs781383316 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19235953 19235956 rs869100391 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 731 chr21 19235954 19235956 rs3049197 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 2 HGSV,TSC-CSHL, 0 731 chr21 19235954 19235955 rs397867540 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 731 chr21 19235955 19235956 rs869177883 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HUMANGENOME_JCVI, 0 731 chr21 19235957 19235958 rs201011633 0 - G G A/C genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 731 chr21 19235994 19235995 rs13051873 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 731 chr21 19236006 19236007 rs553479962 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19236051 19236052 rs779365907 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236064 19236065 rs557622904 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19236073 19236074 rs539136777 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19236075 19236076 rs557954533 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19236104 19236105 rs758911907 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236178 19236179 rs750648768 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19236250 19236251 rs780463620 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236288 19236289 rs571431199 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236307 19236308 rs575796981 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19236327 19236328 rs768785218 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236336 19236337 rs758730918 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19236343 19236344 rs1489716 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3185.000000,1823.000000, 0.635982,0.364018, maf-5-some-pop,maf-5-all-pops 731 chr21 19236373 19236374 rs73317610 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 731 chr21 19236392 19236393 rs748378842 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236394 19236395 rs573593382 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19236398 19236399 rs541454097 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19236425 19236426 rs774219672 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236444 19236445 rs759299882 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236472 19236473 rs114389581 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19236571 19236572 rs1489717 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.384401 0.210799 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3708.000000,1300.000000, 0.740415,0.259585, maf-5-some-pop 731 chr21 19236572 19236572 rs35535336 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19236604 19236605 rs775636939 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236623 19236624 rs551553266 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19236665 19236666 rs117746396 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,GMI, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19236671 19236672 rs146274432 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19236698 19236699 rs549596683 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19236701 19236702 rs763699898 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236707 19236708 rs776382501 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236730 19236731 rs9637035 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.463018 0.130857 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3185.000000,1823.000000, 0.635982,0.364018, maf-5-some-pop,maf-5-all-pops 731 chr21 19236731 19236732 rs764843389 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236738 19236739 rs528766054 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19236747 19236748 rs547396017 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19236762 19236763 rs9637036 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.461703 0.132973 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1811.000000,3197.000000, 0.361621,0.638379, maf-5-some-pop,maf-5-all-pops 731 chr21 19236770 19236771 rs769617430 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19236796 19236797 rs139460106 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19236802 19236803 rs772931906 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19236852 19236852 rs66825382 0 + - - -/A/AAA genomic insertion by-cluster,by-1000genomes 0.5 0 intron between 1 InconsistentAlleles 9 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19236857 19236858 rs557527495 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19236859 19236860 rs56322355 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.493477 0.056735 intron exact 1 MixedObserved 8 1000GENOMES,BCM-HGSC-SUB,BL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 2790.000000,2218.000000, 0.557109,0.442891, maf-5-some-pop,maf-5-all-pops 731 chr21 19236859 19236860 rs66774862 0 + G G AAAA/G genomic in-del unknown 0.5 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HUMANGENOME_JCVI, 2 AAAA,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19236865 19236865 rs60310692 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 731 chr21 19236866 19236868 rs773558075 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236866 19236866 rs749101746 0 + - - -/AAG genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19236900 19236901 rs536889444 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19236930 19236930 rs765840514 0 + - - -/TAG genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 731 chr21 19236960 19236961 rs185968229 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19236981 19236982 rs766898726 0 + G G A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19237001 19237002 rs555130947 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19237007 19237008 rs576005407 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19237037 19237038 rs189168232 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19237042 19237043 rs540942049 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19237043 19237044 rs553349761 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19237094 19237095 rs770531506 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19237117 19237118 rs370375204 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19237120 19237121 rs7280263 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.462691 0.131387 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3188.000000,1820.000000, 0.636581,0.363419, maf-5-some-pop,maf-5-all-pops 731 chr21 19237134 19237135 rs7276531 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.4628 0.13121 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1821.000000,3187.000000, 0.363618,0.636382, maf-5-some-pop,maf-5-all-pops 731 chr21 19237141 19237142 rs774018381 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19237142 19237143 rs563820480 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19237146 19237147 rs531017985 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19237171 19237172 rs543279757 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19237182 19237185 rs200134482 0 + AGA AGA -/AGA genomic deletion by-cluster,by-frequency,by-1000genomes 0.142947 0.22592 intron range 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,AGA, 388.000000,4620.000000, 0.077476,0.922524, maf-5-some-pop 731 chr21 19237186 19237189 rs377400281 0 + GAA GAA -/GAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 731 chr21 19237208 19237209 rs533369537 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19237224 19237225 rs540452651 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19237225 19237226 rs561443462 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19237250 19237251 rs7280567 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.462909 0.131034 intron exact 1 MixedObserved 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3186.000000,1822.000000, 0.636182,0.363818, maf-5-some-pop,maf-5-all-pops 731 chr21 19237250 19237252 rs386816708 0 + TG TG CA/TG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 731 chr21 19237253 19237254 rs546943182 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19237275 19237278 rs869296653 0 + CAA CAA -/CAA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 731 chr21 19237276 19237289 rs201970908 0 + AAAAAAAAAAAAA AAAAAAAAAAAAA -/AAAAAAAAAAAAA genomic deletion unknown 0 0 intron range 1 1 GMI, 0 731 chr21 19237297 19237297 rs386394351 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 731 chr21 19237298 19237298 rs58081264 0 + - - -/AA genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 AA, 2.000000, 1.000000, 731 chr21 19237341 19237342 rs539727000 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19237353 19237354 rs748321567 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19237392 19237393 rs144912044 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19237394 19237395 rs181912061 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19237427 19237428 rs529583657 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19237439 19237440 rs777898434 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19237463 19237464 rs113415902 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19237465 19237466 rs115499667 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19237471 19237472 rs745674071 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19237487 19237488 rs185748428 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19237493 19237494 rs190405865 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19237499 19237500 rs552947936 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19237516 19237517 rs373797033 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19237526 19237527 rs552686320 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19237624 19237625 rs61403581 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 4 1000GENOMES,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 731 chr21 19237639 19237640 rs183609134 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19237676 19237677 rs142126818 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19237699 19237700 rs750773459 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19237703 19237704 rs543115119 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19237765 19237766 rs775499982 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19237812 19237813 rs186545795 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19237862 19237865 rs139685700 0 + TTT TTT -/TTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.45889 0.13735 intron range 1 MixedObserved 5 1000GENOMES,BILGI_BIOE,GMI,PJP,SSMP, 2 -,TTT, 3222.000000,1786.000000, 0.643371,0.356629, maf-5-some-pop,maf-5-all-pops 731 chr21 19237862 19237866 rs774802421 0 + TTTT TTTT -/TTTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19237863 19237866 rs773983337 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19237865 19237866 rs79985505 0 + T T C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 731 chr21 19237877 19237880 rs5842666 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 731 chr21 19237925 19237926 rs758853298 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19237942 19237943 rs528636932 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19237964 19237965 rs766649866 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19237970 19237971 rs540924971 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19238010 19238011 rs368563705 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19238014 19238015 rs191208570 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19238024 19238025 rs532828923 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19238047 19238048 rs562905693 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19238089 19238090 rs372862398 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19238107 19238108 rs115566200 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19238126 19238127 rs2130318 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.457737 0.139088 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3232.000000,1776.000000, 0.645367,0.354633, maf-5-some-pop,maf-5-all-pops 731 chr21 19238128 19238129 rs530537880 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19238154 19238155 rs548630402 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19238212 19238213 rs759845525 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238224 19238225 rs147789572 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19238334 19238335 rs768231489 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238359 19238360 rs2171804 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493568 0.056343 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2788.000000,2220.000000, 0.556709,0.443291, maf-5-some-pop,maf-5-all-pops 731 chr21 19238445 19238446 rs182657742 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19238473 19238474 rs764935749 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238496 19238497 rs141758090 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19238510 19238511 rs186855048 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19238532 19238533 rs147075437 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19238547 19238548 rs763322410 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238551 19238552 rs575673769 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19238563 19238564 rs550593805 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19238566 19238567 rs536753215 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19238580 19238581 rs147718057 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19238581 19238582 rs192432360 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19238588 19238589 rs752743824 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238592 19238593 rs540508569 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19238608 19238609 rs756216643 0 + A A A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238610 19238611 rs565458374 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19238652 19238653 rs141118521 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19238654 19238655 rs150266622 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19238683 19238684 rs111496467 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19238720 19238721 rs530381681 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19238757 19238758 rs567523181 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19238773 19238774 rs778044644 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238784 19238785 rs749474114 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238833 19238833 rs373929575 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 731 chr21 19238843 19238844 rs868808762 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19238846 19238847 rs758170367 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238860 19238861 rs780016929 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19238904 19238905 rs1080508 0 - T T A/C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.463126 0.13068 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 1824.000000,3184.000000, 0.364217,0.635783, maf-5-some-pop,maf-5-all-pops 731 chr21 19238910 19238911 rs560860334 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19238914 19238915 rs113239536 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19238930 19238931 rs546506007 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19238936 19238937 rs566510862 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19238959 19238960 rs538949443 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19238984 19238985 rs76219744 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 4987.000000,21.000000, 0.995807,0.004193, 731 chr21 19238988 19238989 rs2897297 0 + G G A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.410399 0.191761 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 26 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1444.000000,3564.000000, 0.288339,0.711661, maf-5-some-pop 731 chr21 19238993 19238994 rs201279453 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 -,A, 47.000000,4961.000000, 0.009385,0.990615, 731 chr21 19239008 19239009 rs760651114 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239016 19239017 rs183303085 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19239062 19239063 rs56242993 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4897.000000,111.000000, 0.977835,0.022164, maf-5-some-pop 731 chr21 19239094 19239095 rs188035798 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19239100 19239101 rs573288329 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19239102 19239103 rs192114864 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19239112 19239113 rs558905285 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19239145 19239146 rs774676157 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239167 19239168 rs2824522 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3185.000000,1823.000000, 0.635982,0.364018, maf-5-some-pop,maf-5-all-pops 731 chr21 19239168 19239169 rs571823497 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19239177 19239178 rs868397483 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19239178 19239179 rs867055629 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19239187 19239188 rs374812095 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19239198 19239199 rs540386709 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239213 19239214 rs185350711 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19239240 19239241 rs760739114 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239253 19239254 rs2824523 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3185.000000,1823.000000, 0.635982,0.364018, maf-5-some-pop,maf-5-all-pops 731 chr21 19239263 19239264 rs542250512 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19239268 19239269 rs560918442 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19239321 19239322 rs535157028 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19239323 19239324 rs540287453 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19239363 19239364 rs564940955 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19239372 19239373 rs573991204 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19239392 19239393 rs754041477 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239476 19239477 rs9637037 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1823.000000,3185.000000, 0.364018,0.635982, maf-5-some-pop,maf-5-all-pops 731 chr21 19239506 19239507 rs550791242 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19239509 19239510 rs779314358 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239530 19239531 rs189665288 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19239575 19239576 rs243632 0 + C C A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 5008.000000,0.000000, 1.000000,0.000000, 731 chr21 19239618 19239619 rs754876079 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239647 19239648 rs113398380 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.238749 0.249747 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4314.000000,694.000000, 0.861422,0.138578, maf-5-some-pop 731 chr21 19239673 19239674 rs141803333 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4961.000000,47.000000, 0.990615,0.009385, 731 chr21 19239689 19239690 rs192728922 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19239708 19239709 rs769311021 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239717 19239718 rs150582128 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, 731 chr21 19239732 19239733 rs570609272 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19239821 19239822 rs200002208 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19239822 19239823 rs538091006 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19239880 19239881 rs531758565 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19239955 19239956 rs556326135 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19239968 19239969 rs748883138 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19239997 19239998 rs551504649 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19240003 19240004 rs373266515 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19240006 19240007 rs184292958 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19240033 19240034 rs554285713 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19240043 19240044 rs377535530 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19240079 19240080 rs527792943 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19240216 19240217 rs572755872 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19240260 19240261 rs539953604 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19240262 19240263 rs200990660 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 29.000000,4979.000000, 0.005791,0.994209, 731 chr21 19240303 19240304 rs565036139 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19240312 19240313 rs7283290 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392511 0.205404 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1343.000000,3665.000000, 0.268171,0.731829, maf-5-some-pop 731 chr21 19240335 19240336 rs776023912 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240393 19240394 rs544452677 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19240415 19240416 rs562650686 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19240431 19240432 rs761106660 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240449 19240450 rs7275674 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493568 0.056343 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2220.000000,2788.000000, 0.443291,0.556709, maf-5-some-pop,maf-5-all-pops 731 chr21 19240460 19240461 rs753830399 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240461 19240462 rs762047287 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240500 19240501 rs62215883 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 11 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 4946.000000,62.000000, 0.987620,0.012380, 731 chr21 19240546 19240547 rs139472223 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19240559 19240560 rs527732973 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19240560 19240561 rs188230467 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19240569 19240570 rs754755738 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240584 19240585 rs570649414 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19240588 19240589 rs866886632 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19240594 19240595 rs780882856 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240649 19240650 rs72623536 0 - T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,BGI,BUSHMAN,GMI,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF, 2 A,T, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19240714 19240715 rs556363003 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19240732 19240733 rs147797949 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.094856 0.196037 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 250.000000,4758.000000, 0.049920,0.950080, maf-5-some-pop 731 chr21 19240746 19240747 rs535780616 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19240773 19240774 rs180937113 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19240775 19240776 rs370539970 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19240807 19240807 rs758296783 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240839 19240840 rs139605729 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4929.000000,79.000000, 0.984225,0.015775, 731 chr21 19240877 19240878 rs540261357 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19240894 19240895 rs748745100 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19240896 19240897 rs377614682 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19240921 19240922 rs558571919 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19240957 19240958 rs577040551 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19240999 19241000 rs184640066 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19241000 19241001 rs562687489 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19241011 19241012 rs866805861 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19241031 19241032 rs574530363 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19241050 19241051 rs541657443 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19241068 19241069 rs370193300 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19241074 19241075 rs560438714 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19241082 19241083 rs112652604 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.462909 0.131034 intron exact 1 14 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 3186.000000,1822.000000, 0.636182,0.363818, maf-5-some-pop,maf-5-all-pops 731 chr21 19241145 19241146 rs527575862 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19241158 19241159 rs145119591 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19241163 19241164 rs564114639 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19241165 19241169 rs754679060 0 + AACA AACA -/AACA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241181 19241182 rs531708977 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19241184 19241185 rs757044435 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19241195 19241196 rs80182287 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19241195 19241196 rs142207945 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.242201 0.249878 intron exact 1 MixedObserved 2 1000GENOMES,LUNTER, 2 -,T, 706.000000,4302.000000, 0.140974,0.859026, maf-5-some-pop 731 chr21 19241199 19241200 rs567322337 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19241204 19241205 rs200084742 0 + C C -/C genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19241215 19241215 rs58694067 0 + - - -/A/AA genomic insertion by-cluster,by-frequency,by-1000genomes 0.494596 0.208819 intron between 1 9 1000GENOMES,BILGI_BIOE,BL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 3 -,A,AA, 3273.000000,1346.000000,389.000000, 0.653554,0.268770,0.077676, 731 chr21 19241224 19241224 rs397750511 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 GMI,HGSV, 0 731 chr21 19241281 19241282 rs2824524 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.462253 0.132093 intron exact 1 26 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3192.000000,1816.000000, 0.637380,0.362620, maf-5-some-pop,maf-5-all-pops 731 chr21 19241338 19241339 rs56304220 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.462473 0.13174 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1818.000000,3190.000000, 0.363019,0.636981, maf-5-some-pop,maf-5-all-pops 731 chr21 19241344 19241345 rs536091044 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 731 chr21 19241345 19241346 rs147727971 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19241347 19241348 rs2824525 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.462473 0.13174 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3190.000000,1818.000000, 0.636981,0.363019, maf-5-some-pop,maf-5-all-pops 731 chr21 19241391 19241392 rs747440700 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241408 19241409 rs769035463 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241495 19241496 rs66740171 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.239037 0.24976 intron exact 1 16 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 695.000000,4313.000000, 0.138778,0.861222, maf-5-some-pop 731 chr21 19241549 19241550 rs573929103 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241596 19241597 rs2824526 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1823.000000,3185.000000, 0.364018,0.635982, maf-5-some-pop,maf-5-all-pops 731 chr21 19241614 19241615 rs372113535 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19241633 19241634 rs763610066 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19241662 19241663 rs773530847 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241735 19241736 rs367716059 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19241753 19241754 rs189515237 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19241788 19241789 rs555077786 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19241791 19241792 rs574440896 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19241794 19241795 rs763294372 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241900 19241901 rs569145780 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,JMKIDD_LAB, 0 731 chr21 19241910 19241911 rs542041915 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19241911 19241912 rs563167226 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241934 19241935 rs575013669 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19241951 19241952 rs73208360 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19241963 19241964 rs545342795 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19241972 19241973 rs572328845 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19241973 19241974 rs181619284 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19241985 19241986 rs115232820 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4975.000000,33.000000, 0.993411,0.006589, 731 chr21 19241986 19241987 rs531550344 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19241990 19241991 rs756007419 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19241992 19241993 rs774898164 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19242060 19242061 rs549759414 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19242136 19242137 rs186802235 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19242164 19242165 rs371502422 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19242183 19242183 rs35408515 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19242254 19242255 rs763927868 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19242314 19242315 rs547997068 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19242345 19242346 rs565328469 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19242385 19242386 rs566112338 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19242404 19242405 rs142468871 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19242426 19242427 rs753790232 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19242432 19242433 rs76112406 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.052082 0.152737 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 134.000000,4874.000000, 0.026757,0.973243, maf-5-some-pop 731 chr21 19242450 19242451 rs369740163 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19242483 19242484 rs371365725 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,C, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19242492 19242493 rs778413724 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19242514 19242515 rs574344476 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19242523 19242526 rs767586095 0 + TCA TCA -/TCA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19242525 19242526 rs537882128 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19242602 19242603 rs200852293 0 + G G -/G genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19242609 19242610 rs745428411 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19242625 19242626 rs556180083 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19242686 19242687 rs752978544 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19242699 19242700 rs574503826 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19242745 19242746 rs541575401 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19242749 19242750 rs191298862 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19242789 19242790 rs760608358 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19242849 19242850 rs553951094 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19242858 19242859 rs572107409 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19242935 19242936 rs545696933 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19243030 19243031 rs151317165 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19243042 19243043 rs575919152 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19243048 19243049 rs181351830 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19243075 19243076 rs76840551 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 4932.000000,76.000000, 0.984824,0.015176, 731 chr21 19243078 19243079 rs758011288 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243086 19243087 rs529409494 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19243114 19243115 rs185812631 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19243176 19243177 rs368211549 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19243185 19243186 rs140447899 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19243187 19243188 rs779819146 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243196 19243197 rs553565886 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19243226 19243227 rs764229303 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19243238 19243239 rs145663787 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19243239 19243240 rs551996797 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19243272 19243273 rs747320897 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243273 19243273 rs373404561 0 + - - -/GCTGTGA genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 731 chr21 19243283 19243284 rs7280563 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.239326 0.249772 intron exact 1 13 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 696.000000,4312.000000, 0.138978,0.861022, maf-5-some-pop 731 chr21 19243316 19243317 rs529871275 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243340 19243341 rs531209944 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19243361 19243362 rs73890786 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 40.000000,4968.000000, 0.007987,0.992013, 731 chr21 19243367 19243368 rs7282292 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.241627 0.24986 intron exact 1 15 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4304.000000,704.000000, 0.859425,0.140575, maf-5-some-pop 731 chr21 19243370 19243371 rs569892140 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243377 19243378 rs773404332 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243378 19243379 rs535549182 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19243384 19243385 rs565156834 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19243385 19243386 rs553541447 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19243387 19243388 rs565761989 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19243393 19243394 rs532308544 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19243531 19243532 rs189788613 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19243540 19243541 rs763166673 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243550 19243551 rs867281214 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19243565 19243566 rs182459607 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19243571 19243572 rs201231491 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 GMI,WEILL_CORNELL_DGM, 0 731 chr21 19243583 19243584 rs138205026 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19243595 19243596 rs543284851 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19243600 19243601 rs750134591 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19243622 19243623 rs758223140 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19243629 19243630 rs760332364 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243657 19243658 rs555747336 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19243696 19243697 rs763957195 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243712 19243712 rs569729741 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,A, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19243715 19243716 rs573910079 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19243722 19243723 rs187876927 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19243743 19243744 rs541517368 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19243795 19243796 rs534395835 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19243796 19243797 rs559633207 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19243798 19243799 rs533450463 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19243799 19243800 rs796679170 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19243802 19243803 rs545646177 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 731 chr21 19243812 19243812 rs35497585 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.187685 0.242109 intron between 1 19 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PADH-LAB_SPU,PJP,SSIP,SSMP,TISHKOFF, 2 -,G, 525.000000,4483.000000, 0.104832,0.895168, maf-5-some-pop 731 chr21 19243813 19243813 rs139568804 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 PJP, 0 731 chr21 19243863 19243864 rs753723219 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243882 19243883 rs74892002 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4938.000000,70.000000, 0.986022,0.013978, 731 chr21 19243926 19243927 rs73317636 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.251296 0.249997 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 738.000000,4270.000000, 0.147364,0.852636, maf-5-some-pop 731 chr21 19243977 19243978 rs749926392 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19243990 19244002 rs869031939 0 + TAGCTGAATACC TAGCTGAATACC -/TAGCTGAATACC genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 731 chr21 19243991 19244002 rs150764258 0 + AGCTGAATACC AGCTGAATACC -/AGCTGAATACC genomic deletion by-cluster,by-frequency,by-1000genomes 0.109814 0.206997 intron range 1 DuplicateObserved 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AGCTGAATACC, 292.000000,4716.000000, 0.058307,0.941693, maf-5-some-pop 731 chr21 19243991 19243991 rs748008713 0 + - - -/AGCTGAATACC genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 731 chr21 19243995 19244006 rs869095531 0 + GAATACCAGCT GAATACCAGCT -/GAATACCAGCT genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 731 chr21 19244000 19244001 rs191972031 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 731 chr21 19244025 19244026 rs576674452 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19244041 19244042 rs568053439 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19244077 19244078 rs528931305 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19244105 19244106 rs751226968 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244109 19244110 rs547357251 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19244110 19244111 rs375644379 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19244133 19244134 rs755256804 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244206 19244207 rs565469711 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19244211 19244212 rs781708459 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244240 19244241 rs62215885 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.110872 0.20771 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 295.000000,4713.000000, 0.058906,0.941094, maf-5-some-pop 731 chr21 19244262 19244263 rs770393950 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244275 19244276 rs557550934 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19244292 19244292 rs139673833 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 731 chr21 19244340 19244341 rs183493765 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19244347 19244348 rs536957232 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19244385 19244386 rs555325036 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19244412 19244413 rs188436061 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19244431 19244432 rs534744005 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19244441 19244442 rs374539976 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19244447 19244448 rs774373425 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244471 19244472 rs578159355 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19244479 19244480 rs71318104 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.383053 0.211653 intron exact 1 DuplicateObserved 12 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, 2 -,C, 1293.000000,3715.000000, 0.258187,0.741813, maf-5-some-pop 731 chr21 19244479 19244479 rs769553415 0 + - - -/C genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 731 chr21 19244492 19244493 rs141316189 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19244493 19244494 rs376358316 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19244527 19244528 rs2405998 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.458775 0.137524 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1785.000000,3223.000000, 0.356430,0.643570, maf-5-some-pop,maf-5-all-pops 731 chr21 19244566 19244567 rs543583610 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19244588 19244589 rs543205236 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19244613 19244614 rs145044176 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19244621 19244622 rs776376565 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244675 19244676 rs528764938 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19244694 19244695 rs761659433 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244750 19244751 rs138047281 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19244819 19244820 rs558893269 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19244839 19244840 rs532879274 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19244896 19244897 rs551021048 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19244905 19244906 rs765141885 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19244918 19244919 rs569516636 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19244950 19244952 rs796748237 0 + AC AC -/AC genomic deletion unknown 0 0 intron range 1 1 PADH-LAB_SPU, 0 731 chr21 19244952 19244953 rs4638878 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.122758 0.215196 intron exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4679.000000,329.000000, 0.934305,0.065695, maf-5-some-pop 731 chr21 19244962 19244963 rs530146307 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245011 19245012 rs765943115 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245018 19245019 rs62215886 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19245024 19245025 rs557536327 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245037 19245038 rs754637838 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245052 19245053 rs376615024 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19245061 19245062 rs563383140 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245087 19245088 rs112249232 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 731 chr21 19245096 19245097 rs553109291 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245158 19245159 rs183895028 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245205 19245206 rs539141760 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19245213 19245214 rs753108068 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245219 19245220 rs118024726 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 111.000000,4897.000000, 0.022164,0.977835, maf-5-some-pop 731 chr21 19245242 19245243 rs778370157 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245244 19245245 rs575801372 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245245 19245246 rs542884008 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19245255 19245256 rs749809693 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245272 19245273 rs770879157 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245325 19245325 rs796517373 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 731 chr21 19245327 19245328 rs59313051 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.248755 0.249997 intron exact 1 MixedObserved 9 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4279.000000,729.000000, 0.854433,0.145567, maf-5-some-pop 731 chr21 19245327 19245328 rs796652491 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 HAMMER_LAB, 0 731 chr21 19245382 19245383 rs573477754 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245383 19245384 rs772273029 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245427 19245428 rs540884395 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245474 19245475 rs371183528 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19245480 19245481 rs775743315 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245481 19245482 rs17002137 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.239037 0.24976 intron exact 1 15 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 695.000000,4313.000000, 0.138778,0.861222, maf-5-some-pop 731 chr21 19245512 19245513 rs373425137 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19245537 19245538 rs760900642 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245577 19245578 rs73208362 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19245579 19245580 rs111578315 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19245599 19245600 rs200719567 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19245639 19245640 rs762968153 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245659 19245660 rs548928965 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245662 19245663 rs577426619 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245677 19245678 rs534623771 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19245714 19245715 rs546872509 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19245724 19245725 rs571565390 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19245759 19245760 rs758122676 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19245785 19245786 rs751050987 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245795 19245796 rs539078724 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19245807 19245808 rs191276733 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19245808 19245809 rs868050625 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19245895 19245896 rs767266018 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245912 19245913 rs528047876 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19245970 19245971 rs183637626 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19245972 19245973 rs752415488 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19245997 19245998 rs536720099 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19245998 19245999 rs189178899 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19246004 19246005 rs756483627 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246009 19246010 rs182196063 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19246012 19246013 rs144156224 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 C,T, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19246016 19246017 rs764587460 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246032 19246033 rs561448579 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19246033 19246034 rs372019181 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19246038 19246041 rs776705400 0 + CTC CTC -/CTC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246089 19246090 rs148259912 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 731 chr21 19246097 19246098 rs2077931 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.251014 0.249998 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 737.000000,4271.000000, 0.147165,0.852835, maf-5-some-pop 731 chr21 19246116 19246116 rs111345539 0 + - - -/T/TT genomic insertion by-cluster,by-frequency,by-1000genomes 0.247337 0.249986 intron between 1 InconsistentAlleles 4 1000GENOMES,BUSHMAN,HAMMER_LAB,LUNTER, 2 -,TT, 4284.000000,724.000000, 0.855431,0.144569, maf-5-some-pop 731 chr21 19246125 19246125 rs3049200 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 2 ABI,TSC-CSHL, 0 731 chr21 19246137 19246138 rs568104715 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19246250 19246251 rs779352718 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246277 19246278 rs544633152 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19246278 19246278 rs113077069 0 + - - -/T genomic insertion unknown 0.5 0 intron between 1 1 BUSHMAN, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19246346 19246347 rs142886090 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19246403 19246404 rs719637 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.463126 0.13068 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1824.000000,3184.000000, 0.364217,0.635783, maf-5-some-pop,maf-5-all-pops 731 chr21 19246405 19246406 rs545494446 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19246426 19246427 rs560931707 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19246430 19246431 rs528337415 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19246450 19246451 rs747613353 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19246492 19246493 rs763335 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 ABI,TSC-CSHL, 0 731 chr21 19246507 19246508 rs8129371 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.009539 0.068399 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WI_SSAHASNP, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 731 chr21 19246524 19246525 rs370584635 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19246527 19246528 rs747262436 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246528 19246529 rs9637038 0 + C C C/T genomic single by-cluster,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 2 SC_SNP,SSMP, 1 C, 418.000000, 1.000000, 731 chr21 19246540 19246541 rs746457126 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19246542 19246543 rs570191528 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246553 19246554 rs539319220 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19246554 19246555 rs74450398 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19246556 19246557 rs551015261 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19246578 19246579 rs200584139 0 - A A G/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 731 chr21 19246590 19246591 rs749078128 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246617 19246618 rs147362459 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19246625 19246626 rs775976867 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19246642 19246642 rs149329918 0 + - - -/CA genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,LUNTER, 0 731 chr21 19246654 19246655 rs536355078 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19246682 19246683 rs555001023 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19246688 19246689 rs566849513 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19246717 19246718 rs747205125 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19246723 19246724 rs534162891 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19246803 19246804 rs768813835 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19246828 19246829 rs559267847 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246849 19246850 rs114649262 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 731 chr21 19246850 19246851 rs572793211 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19246859 19246860 rs544471263 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19246908 19246909 rs767143482 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246959 19246960 rs556692111 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19246961 19246962 rs775245941 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246980 19246981 rs760427957 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19246992 19246993 rs761812526 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19246993 19246994 rs117536254 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,G, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 731 chr21 19247023 19247024 rs765422125 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19247078 19247079 rs542257742 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19247106 19247107 rs757617651 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19247144 19247145 rs561081564 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19247180 19247181 rs544450848 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19247231 19247232 rs528160872 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19247265 19247266 rs561399087 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19247294 19247295 rs189903693 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19247325 19247326 rs866323972 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19247332 19247333 rs182122728 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19247333 19247334 rs773007815 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19247344 19247345 rs185672759 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19247361 19247378 rs533285697 0 + TGATTCTCATAAATGGG TGATTCTCATAAATGGG -/TGATTCTCATAAATGGG genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TGATTCTCATAAATGGG, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19247377 19247378 rs243610 0 - G G A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 5008.000000,0.000000, 1.000000,0.000000, 731 chr21 19247379 19247380 rs190427765 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19247436 19247437 rs780128500 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19247441 19247442 rs77478111 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.052082 0.152737 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 134.000000,4874.000000, 0.026757,0.973243, maf-5-some-pop 731 chr21 19247474 19247475 rs530154616 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19247513 19247514 rs541397617 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19247634 19247635 rs755164330 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19247686 19247687 rs548281114 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19247735 19247736 rs781337486 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19247752 19247753 rs866760150 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19247753 19247754 rs749096767 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19247791 19247792 rs566988709 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19247792 19247793 rs180680553 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19247850 19247851 rs770646211 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19247856 19247857 rs7275907 0 + C C C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.238804 0.249892 intron exact 1 SingleClassTriAllelic 15 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 3 C,G,T, 4314.000000,693.000000,1.000000, 0.861422,0.138379,0.000200, maf-5-some-pop 731 chr21 19247862 19247863 rs113129942 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19247866 19247867 rs546520698 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_DECODE,SSIP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19247885 19247886 rs368141702 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19247901 19247902 rs2051247 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.384785 0.210554 intron exact 1 25 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1302.000000,3706.000000, 0.259984,0.740016, maf-5-some-pop 731 chr21 19247927 19247928 rs111915030 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19247948 19247949 rs554248836 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248130 19248131 rs572994349 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248168 19248168 rs11283221 0 + - - -/AGGGTATC genomic insertion by-cluster,by-frequency,by-1000genomes 0.248471 0.249995 intron between 1 8 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,AGGGTATC, 4280.000000,728.000000, 0.854633,0.145367, maf-5-some-pop 731 chr21 19248188 19248189 rs540293154 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19248198 19248199 rs79355382 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 G,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19248235 19248236 rs185348119 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248236 19248237 rs544416577 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248272 19248273 rs562840411 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248324 19248325 rs529931297 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248332 19248333 rs760325531 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19248364 19248365 rs767221134 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19248382 19248383 rs11323196 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.251014 0.249998 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,T, 737.000000,4271.000000, 0.147165,0.852835, 731 chr21 19248386 19248387 rs747546157 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19248388 19248389 rs192149022 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19248438 19248439 rs560254493 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248462 19248463 rs183959395 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248483 19248484 rs189157111 0 + G G C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248487 19248488 rs373816036 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19248508 19248509 rs570609371 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248513 19248514 rs776157375 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19248529 19248530 rs762166490 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19248530 19248531 rs191509958 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248562 19248563 rs114629390 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19248589 19248590 rs559464192 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19248594 19248595 rs568766865 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248611 19248612 rs750893099 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19248639 19248640 rs563482059 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19248661 19248662 rs149814226 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248687 19248688 rs554562695 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248699 19248700 rs183023384 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19248832 19248833 rs576989727 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19248837 19248838 rs145811882 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19248907 19248908 rs62215887 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 8 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19248913 19248914 rs867892892 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19248920 19248921 rs868518756 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19248921 19248922 rs751635821 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19248921 19248921 rs780444990 0 + - - -/C genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA_DECODE, 0 731 chr21 19248941 19248942 rs577001473 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19248947 19248948 rs370784806 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,WARNICH_LAB,WEILL_CORNELL_DGM, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248956 19248957 rs562520671 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19248978 19248979 rs574692543 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19249007 19249008 rs755109288 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249012 19249013 rs186843556 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19249023 19249024 rs528377360 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249028 19249029 rs752871451 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249034 19249035 rs547734137 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19249035 19249036 rs561572557 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249051 19249052 rs560119272 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19249082 19249083 rs144491138 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19249117 19249118 rs552145419 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19249119 19249120 rs2824527 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.24019 0.249807 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 4309.000000,699.000000, 0.860423,0.139577, maf-5-some-pop 731 chr21 19249131 19249132 rs114581063 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19249136 19249137 rs550374084 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19249142 19249143 rs191732251 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19249171 19249172 rs243611 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.047535 0.146656 intron exact 1 32 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 731 chr21 19249178 19249179 rs528999741 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 MixedObserved 2 1000GENOMES,HAMMER_LAB, 2 -,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19249178 19249179 rs547725219 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19249180 19249181 rs113842055 0 + T T -/T genomic deletion by-cluster 0.5 0 intron exact 1 2 BUSHMAN,TISHKOFF, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19249228 19249229 rs371742579 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19249251 19249252 rs73208365 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.246769 0.249979 intron exact 1 16 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 722.000000,4286.000000, 0.144169,0.855831, maf-5-some-pop 731 chr21 19249308 19249309 rs780195080 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249331 19249332 rs183514756 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19249344 19249345 rs570550040 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 731 chr21 19249431 19249432 rs187678951 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19249474 19249475 rs776306204 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249504 19249505 rs867703973 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19249558 19249559 rs761394628 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249559 19249560 rs556333439 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19249576 19249577 rs368364988 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19249577 19249578 rs552815359 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19249621 19249622 rs542006736 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19249622 19249624 rs202088714 0 + AC AC -/AC genomic deletion by-cluster,by-frequency,by-1000genomes 0.029116 0.117091 intron range 1 1 1000GENOMES, 2 -,AC, 74.000000,4934.000000, 0.014776,0.985224, 731 chr21 19249650 19249651 rs566330186 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249694 19249695 rs551761044 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.268452 0.249318 intron exact 1 DuplicateObserved 1 1000GENOMES, 2 -,T, 800.000000,4208.000000, 0.159744,0.840256, maf-5-some-pop 731 chr21 19249694 19249694 rs754323718 0 + - - -/T genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 EVA_GENOME_DK, 0 731 chr21 19249704 19249705 rs35401761 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 SingleAlleleFreq 2 ABI,HGSV, 1 T, 2.000000, 1.000000, 731 chr21 19249714 19249715 rs553692027 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19249717 19249718 rs762973251 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19249724 19249725 rs192772320 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19249725 19249726 rs62215888 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.101301 0.200969 intron exact 1 13 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 268.000000,4740.000000, 0.053514,0.946486, maf-5-some-pop 731 chr21 19249811 19249812 rs528527273 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 G,T, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19249828 19249829 rs774444483 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19249843 19249844 rs763377160 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249851 19249852 rs542256414 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19249873 19249874 rs111820933 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 731 chr21 19249886 19249887 rs543508814 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19249908 19249909 rs562307598 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19249916 19249917 rs766860598 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19249921 19249922 rs141192791 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19249977 19249978 rs574773511 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19250039 19250040 rs767528674 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19250088 19250088 rs796478893 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 PADH-LAB_SPU, 0 731 chr21 19250188 19250189 rs752919256 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19250216 19250217 rs73317649 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.200492 0.245049 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4442.000000,566.000000, 0.886981,0.113019, maf-5-some-pop 731 chr21 19250267 19250268 rs566409602 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19250317 19250318 rs533645790 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19250384 19250385 rs552223753 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19250387 19250388 rs570422597 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19250398 19250399 rs752388565 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19250419 19250420 rs377223227 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19250422 19250423 rs562136132 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 731 chr21 19250474 19250475 rs556033369 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19250486 19250487 rs568139012 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19250513 19250514 rs374800041 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19250514 19250515 rs145064042 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19250533 19250534 rs572033415 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19250560 19250561 rs148315155 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19250600 19250601 rs140833247 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 731 chr21 19250604 19250605 rs758279425 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19250606 19250607 rs185497553 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19250718 19250719 rs150152218 0 + C C C/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 1 1000GENOMES, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19250727 19250728 rs190802722 0 + G G G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 731 chr21 19250745 19250746 rs780066056 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19250768 19250769 rs529372411 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19250786 19250788 rs373878653 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron range 1 2 1000GENOMES,LUNTER, 2 -,AG, 23.000000,4985.000000, 0.004593,0.995407, 731 chr21 19250832 19250832 rs777156466 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19250843 19250843 rs757763004 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19250918 19250919 rs57629409 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.238171 0.24972 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4316.000000,692.000000, 0.861821,0.138179, maf-5-some-pop 731 chr21 19250920 19250921 rs138582296 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19250946 19250947 rs76946074 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 731 chr21 19250980 19250981 rs552058085 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19250991 19250992 rs780545360 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251022 19251023 rs28671412 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,TISHKOFF, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 731 chr21 19251025 19251026 rs531250742 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251029 19251030 rs192899560 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251037 19251038 rs746276696 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251065 19251066 rs142927259 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251091 19251092 rs147425036 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19251097 19251098 rs535507673 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251098 19251099 rs772908906 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 731 chr21 19251112 19251113 rs547208323 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19251124 19251125 rs540931166 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19251171 19251172 rs80089677 0 + G G C/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19251186 19251187 rs559122036 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251190 19251191 rs565500199 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19251208 19251209 rs184542495 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19251234 19251235 rs772597864 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251246 19251247 rs771291468 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251255 19251256 rs557673920 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19251270 19251271 rs137930851 0 + C C C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 731 chr21 19251271 19251272 rs755319790 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19251273 19251274 rs188513250 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19251318 19251319 rs555710398 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19251356 19251357 rs781584313 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19251371 19251372 rs143384727 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19251372 19251373 rs759987046 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251381 19251382 rs768121428 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251382 19251383 rs181327336 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19251416 19251417 rs2824528 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.238749 0.249747 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4314.000000,694.000000, 0.861422,0.138578, maf-5-some-pop 731 chr21 19251469 19251470 rs17768367 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.101658 0.201233 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4739.000000,269.000000, 0.946286,0.053714, maf-5-some-pop 731 chr21 19251470 19251471 rs545609530 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19251482 19251483 rs563862881 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251486 19251487 rs754113712 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251514 19251515 rs2824529 0 + G G A/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.133863 0.221656 intron exact 1 SingleClassTriAllelic 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 3 A,G,T, 358.000000,4647.000000,3.000000, 0.071486,0.927915,0.000599, maf-5-some-pop,maf-5-all-pops 731 chr21 19251516 19251517 rs78891925 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 731 chr21 19251536 19251543 rs747199882 0 + TGGTCTT TGGTCTT -/TGGTCTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251575 19251576 rs530399111 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251618 19251619 rs528968589 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19251658 19251659 rs547040256 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19251666 19251667 rs371546594 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19251682 19251683 rs113359812 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19251689 19251690 rs751448555 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251699 19251700 rs59718398 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 731 chr21 19251715 19251716 rs62215889 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.304688 0.243945 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 939.000000,4069.000000, 0.187500,0.812500, maf-5-some-pop 731 chr21 19251775 19251776 rs373876653 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19251781 19251782 rs551536121 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19251788 19251789 rs868120591 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19251792 19251793 rs150886986 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251817 19251818 rs369370484 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19251838 19251839 rs62215890 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.101658 0.201233 intron exact 1 12 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 269.000000,4739.000000, 0.053714,0.946286, maf-5-some-pop 731 chr21 19251857 19251858 rs747598873 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19251866 19251867 rs555492645 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251882 19251883 rs533063084 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19251900 19251901 rs573937741 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251908 19251909 rs144528501 0 + G G G/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 1 1000GENOMES, 2 G,T, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19251909 19251910 rs146625151 0 + C C A/C genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 1 1000GENOMES, 2 A,C, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19251926 19251927 rs578133813 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19251927 19251928 rs545646400 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19251933 19251934 rs557503640 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19251945 19251946 rs575865448 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19251947 19251948 rs369879641 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 731 chr21 19251948 19251948 rs755484529 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 731 chr21 19251975 19251976 rs80248885 0 + C C C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 T, 2.000000, 1.000000, 731 chr21 19252016 19252017 rs543268343 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19252032 19252033 rs561533369 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252068 19252069 rs552801441 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252095 19252096 rs528899418 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19252132 19252133 rs185202089 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19252146 19252147 rs189073252 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19252151 19252152 rs112085282 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 COMPLETE_GENOMICS, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19252151 19252152 rs113697166 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.201418 0.245234 intron exact 1 MixedObserved 6 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,A, 569.000000,4439.000000, 0.113618,0.886382, maf-5-some-pop 731 chr21 19252192 19252193 rs532840528 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19252223 19252224 rs113753946 0 + C C A/C/T genomic single unknown 0.5 0 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19252226 19252227 rs771240488 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252228 19252229 rs377272154 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 MixedObserved 2 1000GENOMES,SSMP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19252228 19252232 rs566317578 0 + TAGT TAGT -/TAGT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA-GONL, 0 731 chr21 19252292 19252293 rs181022691 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19252322 19252323 rs140028242 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252326 19252327 rs187147490 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19252344 19252345 rs149758709 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19252370 19252371 rs567558125 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252374 19252375 rs535053854 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252388 19252389 rs548628795 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19252409 19252410 rs571792307 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19252425 19252426 rs568756752 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252428 19252429 rs369505392 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 731 chr21 19252434 19252435 rs192313344 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19252446 19252447 rs575750689 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252460 19252461 rs145709506 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 31.000000,4977.000000, 0.006190,0.993810, 731 chr21 19252467 19252468 rs555281240 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19252471 19252472 rs537013686 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19252476 19252477 rs573182183 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19252478 19252479 rs776075207 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252483 19252484 rs540651752 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252535 19252536 rs760602270 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252549 19252550 rs377065794 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 731 chr21 19252570 19252571 rs558893504 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252574 19252575 rs763741506 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19252585 19252586 rs531029928 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19252664 19252665 rs545046580 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19252686 19252687 rs373276835 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19252708 19252709 rs9653671 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 intron exact 1 9 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,ENSEMBL,GMI,ILLUMINA-UK,SC_SNP,WEILL_CORNELL_DGM, 2 A,C, 3.000000,3.000000, 0.500000,0.500000, 731 chr21 19252709 19252710 rs13047245 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 731 chr21 19252709 19252709 rs773218726 0 + - - -/AAAA genomic insertion unknown 0 0 intron between 1 1 DDI, 0 731 chr21 19252713 19252714 rs796248711 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,WEILL_CORNELL_DGM, 0 731 chr21 19252714 19252715 rs867781741 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19252724 19252724 rs59577788 0 + - - -/AAAA/AAAAAAA/AAAAAAAA genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 BCMHGSC_JDW,HGSV,HUMANGENOME_JCVI, 1 AAAAAAAA, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 731 chr21 19252726 19252727 rs202004862 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 731 chr21 19252727 19252728 rs62215891 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 731 chr21 19252765 19252766 rs563340817 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19252787 19252788 rs764297055 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252795 19252796 rs530774979 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19252816 19252817 rs548890149 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19252817 19252818 rs182749071 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19252830 19252831 rs776940470 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252831 19252832 rs762104346 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252844 19252845 rs2824530 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.239902 0.249796 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 698.000000,4310.000000, 0.139377,0.860623, maf-5-some-pop 731 chr21 19252946 19252947 rs547034527 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19252949 19252950 rs751306808 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252952 19252953 rs754858621 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19252980 19252981 rs571630889 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253000 19253001 rs538762192 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19253001 19253002 rs79337659 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 731 chr21 19253002 19253003 rs569240501 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253072 19253072 rs770891193 0 + - - -/C genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253073 19253074 rs576876158 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253091 19253092 rs536882532 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253124 19253125 rs17002141 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.052838 0.153711 intron exact 1 9 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4872.000000,136.000000, 0.972843,0.027157, maf-5-some-pop 731 chr21 19253145 19253146 rs573220968 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19253163 19253164 rs534187111 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19253206 19253207 rs114598358 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4977.000000,31.000000, 0.993810,0.006190, 731 chr21 19253210 19253211 rs148966429 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19253211 19253212 rs62215892 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.102014 0.201495 intron exact 1 MixedObserved 13 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4738.000000,270.000000, 0.946086,0.053914, maf-5-some-pop 731 chr21 19253211 19253214 rs759417196 0 + AAT AAT -/AAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253216 19253217 rs563432930 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19253236 19253237 rs575228189 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253265 19253266 rs777290813 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253266 19253267 rs542830273 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253313 19253314 rs113967753 0 + G G C/G genomic single by-cluster,by-frequency 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 C,G, 2.000000,2.000000, 0.500000,0.500000, 731 chr21 19253349 19253350 rs748849277 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253365 19253366 rs752038502 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19253398 19253399 rs756874752 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253399 19253400 rs77637813 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253425 19253426 rs552736893 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19253483 19253484 rs572731922 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19253512 19253513 rs746158118 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253525 19253526 rs17768396 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.101301 0.200969 intron exact 1 17 1000GENOMES,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,T, 268.000000,4740.000000, 0.053514,0.946486, maf-5-some-pop 731 chr21 19253600 19253601 rs546872495 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19253637 19253638 rs56934447 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 4 1000GENOMES,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 731 chr21 19253687 19253688 rs143702403 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 31.000000,4977.000000, 0.006190,0.993810, 731 chr21 19253796 19253797 rs185937614 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253797 19253798 rs569359311 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19253806 19253807 rs536319006 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19253823 19253824 rs17002142 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 intron exact 1 4 1000GENOMES,ILLUMINA,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 91.000000,4917.000000, 0.018171,0.981829, maf-5-some-pop 731 chr21 19253871 19253872 rs190008047 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19253878 19253879 rs374172991 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19253880 19253881 rs747569279 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19253905 19253906 rs534224753 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19253991 19253992 rs558870196 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19254079 19254080 rs776821212 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19254136 19254137 rs866846626 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19254203 19254204 rs367902462 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19254216 19254217 rs538657623 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19254238 19254239 rs78430625 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4956.000000,52.000000, 0.989617,0.010383, 731 chr21 19254243 19254244 rs182455057 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19254274 19254275 rs781686599 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19254307 19254308 rs376239150 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19254308 19254309 rs151203461 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19254316 19254317 rs561069128 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19254328 19254329 rs370573458 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 731 chr21 19254348 19254349 rs573124302 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19254395 19254396 rs141305959 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19254396 19254397 rs565215899 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19254397 19254398 rs532286539 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19254399 19254400 rs550976977 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19254411 19254412 rs61154006 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 intron exact 1 4 1000GENOMES,HGSV,JMKIDD_LAB,SSMP, 2 A,T, 4931.000000,77.000000, 0.984625,0.015375, maf-5-some-pop 731 chr21 19254419 19254420 rs113093260 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.085456 0.188216 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4784.000000,224.000000, 0.955272,0.044728, maf-5-some-pop 731 chr21 19254422 19254423 rs116224643 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 192.000000,4816.000000, 0.038339,0.961661, maf-5-some-pop 731 chr21 19254448 19254449 rs138170414 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 50.000000,4958.000000, 0.009984,0.990016, 731 chr21 19254501 19254502 rs59827043 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.290201 0.246747 intron exact 1 8 1000GENOMES,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PJP,SSMP, 2 -,T, 4126.000000,882.000000, 0.823882,0.176118, maf-5-some-pop,maf-5-all-pops 731 chr21 19254516 19254517 rs398036179 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 731 chr21 19254517 19254518 rs75546292 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19254601 19254602 rs534157545 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19254645 19254646 rs372532932 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 731 chr21 19254649 19254650 rs552331045 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19254661 19254662 rs571144979 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19254668 19254669 rs543393706 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19254671 19254672 rs538121179 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19254688 19254689 rs556924081 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19254692 19254693 rs143421951 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,SSMP, 2 A,G, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 731 chr21 19254695 19254696 rs536248073 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19254697 19254697 rs760315756 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19254700 19254701 rs745772636 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19254701 19254702 rs243612 0 - C C A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.499946 0.005191 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2530.000000,2478.000000, 0.505192,0.494808, maf-5-some-pop,maf-5-all-pops 731 chr21 19254703 19254704 rs540363536 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 731 chr21 19254708 19254709 rs188402698 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 intron exact 1 4 1000GENOMES,EVA-GONL,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 731 chr21 19254711 19254712 rs558442012 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19254723 19254724 rs577084250 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19254736 19254737 rs550461406 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19254743 19254744 rs55687911 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,HGSV,WEILL_CORNELL_DGM, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19254747 19254748 rs528667323 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19254748 19254749 rs562905687 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19254752 19254753 rs192281476 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19254762 19254763 rs368487108 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19254765 19254766 rs372826961 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19254766 19254767 rs183042392 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19254783 19254784 rs778358918 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19254790 19254791 rs11700723 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.306431 0.243548 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4062.000000,946.000000, 0.811102,0.188898, maf-5-some-pop 731 chr21 19254791 19254792 rs868159811 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19254792 19254793 rs758638054 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19254793 19254794 rs188583419 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19254796 19254797 rs570915115 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19254839 19254840 rs192546008 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 731 chr21 19254861 19254862 rs184400508 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19254871 19254872 rs568724621 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19254878 19254879 rs2824531 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.441977 0.16014 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1651.000000,3357.000000, 0.329673,0.670327, maf-5-some-pop,maf-5-all-pops 731 chr21 19254897 19254898 rs769279456 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19254903 19254904 rs577649983 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 731 chr21 19254908 19254909 rs149278532 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19254951 19254952 rs11088658 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.458545 0.137872 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1783.000000,3225.000000, 0.356030,0.643970, maf-5-some-pop,maf-5-all-pops 731 chr21 19254978 19254979 rs748179862 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19254979 19254980 rs114524245 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 39.000000,4969.000000, 0.007788,0.992212, 731 chr21 19254986 19254987 rs558728664 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19255001 19255002 rs770000154 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255023 19255024 rs144480200 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19255062 19255063 rs570549434 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19255063 19255064 rs544393388 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255079 19255080 rs764694664 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19255121 19255122 rs369325103 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19255143 19255144 rs78560465 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 731 chr21 19255145 19255146 rs74751713 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 731 chr21 19255167 19255168 rs773265912 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255222 19255223 rs574368182 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255250 19255250 rs528935195 0 + - - -/A/AA/AAA/AAAAAAAAAAAAAAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 intron between 1 InconsistentAlleles 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,A, 4816.000000,192.000000, 0.961661,0.038339, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 731 chr21 19255270 19255271 rs60675942 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 731 chr21 19255271 19255271 rs397951686 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 731 chr21 19255283 19255284 rs867656780 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19255304 19255305 rs413321 0 - G G C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SC_JCM, 1 C, 420.000000, 1.000000, 731 chr21 19255308 19255309 rs118035627 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19255322 19255323 rs77857577 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 731 chr21 19255332 19255333 rs527787522 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19255423 19255423 rs34664944 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 731 chr21 19255462 19255463 rs545929233 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255493 19255494 rs763260361 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255517 19255518 rs113453295 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19255525 19255526 rs771110428 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255576 19255577 rs531849112 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255583 19255584 rs539527523 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19255586 19255587 rs570665247 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19255587 19255588 rs61108197 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 197.000000,4811.000000, 0.039337,0.960663, maf-5-some-pop 731 chr21 19255634 19255635 rs113825989 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19255654 19255655 rs529586847 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255658 19255660 rs778527568 0 + AC AC -/AC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255664 19255665 rs796212061 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 731 chr21 19255669 19255670 rs2824532 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.386313 0.209568 intron exact 1 25 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3698.000000,1310.000000, 0.738419,0.261581, maf-5-some-pop 731 chr21 19255702 19255703 rs566436383 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19255721 19255722 rs533877992 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19255746 19255747 rs566642086 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19255761 19255762 rs77494718 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19255762 19255763 rs570517362 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255764 19255765 rs767953057 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19255769 19255770 rs73317660 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.080349 0.183626 intron exact 1 9 1000GENOMES,CHURCH_CG54K,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 210.000000,4798.000000, 0.041933,0.958067, maf-5-some-pop 731 chr21 19255807 19255808 rs189156699 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255823 19255824 rs764823425 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255828 19255829 rs574406613 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19255829 19255830 rs535324469 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19255831 19255832 rs1156396 0 + T T G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 T, 252.000000, 1.000000, 731 chr21 19255845 19255846 rs192260899 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 15.000000,4993.000000, 0.002995,0.997005, 731 chr21 19255848 19255849 rs758037256 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255865 19255866 rs779637558 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19255866 19255867 rs117393074 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,MPI_MOLGEN,WEILL_CORNELL_DGM, 2 C,G, 29.000000,4979.000000, 0.005791,0.994209, 731 chr21 19255975 19255976 rs73890789 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 731 chr21 19255994 19255995 rs564455543 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19256018 19256019 rs576458304 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19256019 19256021 rs756498012 0 + CT CT -/CT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 731 chr21 19256089 19256090 rs73317662 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.082541 0.185628 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4792.000000,216.000000, 0.956869,0.043131, maf-5-some-pop 731 chr21 19256100 19256101 rs562232205 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19256115 19256116 rs529624899 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19256129 19256130 rs184675149 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 731 chr21 19256177 19256178 rs189998002 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19256189 19256190 rs555542235 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19256222 19256223 rs764426791 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19256324 19256325 rs73208370 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 731 chr21 19256342 19256343 rs748696813 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19256346 19256347 rs527326201 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19256364 19256365 rs552135540 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19256425 19256426 rs769715691 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19256427 19256428 rs777887844 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19256429 19256434 rs769825235 0 + AATAA AATAA -/AATAA genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 731 chr21 19256448 19256449 rs533074731 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 731 chr21 19256484 19256485 rs570481932 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19256556 19256557 rs243613 0 - C C A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 2 KWOK,SC_JCM, 1 G, 2.000000, 1.000000, 731 chr21 19256557 19256557 rs200208467 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.425586 0.17796 intron between 1 6 1000GENOMES,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 -,T, 3470.000000,1538.000000, 0.692891,0.307109, maf-5-some-pop,maf-5-all-pops 731 chr21 19256605 19256606 rs757595057 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19256612 19256613 rs544535956 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19256684 19256685 rs537911300 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19256703 19256704 rs796153320 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 731 chr21 19256716 19256717 rs56897467 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.038755 0.1337 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4909.000000,99.000000, 0.980232,0.019768, 731 chr21 19256719 19256720 rs567866125 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19256767 19256768 rs535266152 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19256775 19256776 rs553688129 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19256790 19256791 rs11702091 0 + C C A/C genomic single by-cluster,by-hapmap 0 0 intron exact 1 3 ABI,CSHL-HAPMAP,EVA_DECODE, 0 731 chr21 19256824 19256825 rs571990479 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19256827 19256828 rs75547397 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 64.000000,4944.000000, 0.012780,0.987220, maf-5-some-pop 731 chr21 19256828 19256829 rs180839394 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19256833 19256834 rs576478388 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19256847 19256848 rs543860705 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19256857 19256858 rs9982001 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.037988 0.132479 intron exact 1 14 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 97.000000,4911.000000, 0.019369,0.980631, maf-5-some-pop 731 chr21 19256861 19256862 rs780132019 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19256864 19256865 rs774499177 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19256871 19256872 rs574331965 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19256872 19256873 rs546901964 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19256881 19256882 rs540253591 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19256939 19256940 rs7281294 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 intron exact 1 6 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,WEILL_CORNELL_DGM, 2 A,T, 136.000000,4872.000000, 0.027157,0.972843, maf-5-some-pop 731 chr21 19257020 19257021 rs768467788 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257051 19257051 rs780349091 0 + - - -/TT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257052 19257053 rs533655538 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19257080 19257081 rs9981566 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.041436 0.137845 intron exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 106.000000,4902.000000, 0.021166,0.978834, maf-5-some-pop 731 chr21 19257138 19257139 rs528990780 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19257176 19257177 rs761714349 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257217 19257218 rs186128961 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19257257 19257258 rs75802162 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 194.000000,4814.000000, 0.038738,0.961262, maf-5-some-pop 731 chr21 19257288 19257289 rs549510186 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19257317 19257318 rs748006197 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 731 chr21 19257355 19257356 rs762426723 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257369 19257370 rs78026083 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4814.000000,194.000000, 0.961262,0.038738, maf-5-some-pop 731 chr21 19257389 19257390 rs751260590 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257392 19257393 rs755355549 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257410 19257421 rs202203440 0 + AACACATGATG AACACATGATG -/AACACATGATG genomic deletion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron range 1 3 1000GENOMES,EVA-GONL,HAMMER_LAB, 2 -,AACACATGATG, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19257417 19257418 rs529086209 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19257429 19257430 rs768016670 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257447 19257448 rs74820830 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19257469 19257470 rs140203925 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19257470 19257471 rs539687852 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19257471 19257476 rs768804850 0 + CTTAT CTTAT -/CTTAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257474 19257475 rs79122689 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,CHURCH_CG54K, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, maf-5-some-pop 731 chr21 19257496 19257497 rs76313711 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 196.000000,4812.000000, 0.039137,0.960863, maf-5-some-pop 731 chr21 19257515 19257516 rs756614759 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257564 19257565 rs531099936 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 731 chr21 19257566 19257567 rs190256932 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19257651 19257652 rs778213533 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257658 19257659 rs749377582 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257744 19257745 rs555938802 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19257759 19257760 rs574166910 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19257785 19257786 rs4347933 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 ncRNA exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 731 chr21 19257814 19257815 rs139243368 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19257821 19257822 rs181959335 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19257856 19257857 rs545634698 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19257899 19257900 rs186394574 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19257936 19257937 rs757301481 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257945 19257948 rs781440809 0 + CTC CTC -/CTC genomic deletion by-cluster 0 0 near-gene-5 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257949 19257950 rs779063513 0 + T T C/T genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19257990 19257991 rs566329130 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 near-gene-5 exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 731 chr21 19258005 19258006 rs542997272 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258030 19258031 rs551286880 0 + C C C/T genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258040 19258041 rs561471928 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258048 19258049 rs570834141 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 731 chr21 19258057 19258058 rs542944235 0 + A A -/A genomic deletion unknown 0 0 near-gene-5 exact 1 1 SSIP, 0 731 chr21 19258060 19258061 rs150015789 0 + C C C/G genomic single by-1000genomes 0 0 near-gene-5 exact 1 1 1000GENOMES, 0 731 chr21 19258073 19258074 rs528925723 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258082 19258083 rs547208247 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258091 19258092 rs190438945 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258095 19258096 rs75659899 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258100 19258101 rs79743285 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.081446 0.184634 near-gene-5 exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 213.000000,4795.000000, 0.042532,0.957468, maf-5-some-pop 731 chr21 19258158 19258159 rs569843720 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258161 19258162 rs537478369 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258163 19258164 rs546600803 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 731 chr21 19258251 19258252 rs747958527 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258262 19258263 rs769755570 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258297 19258298 rs773036305 0 + C C A/C genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258310 19258311 rs555777300 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258329 19258330 rs567784104 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258333 19258334 rs77974047 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 near-gene-5 exact 1 9 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 731 chr21 19258339 19258340 rs375725226 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 TISHKOFF, 0 731 chr21 19258423 19258424 rs79856877 0 + A A A/G genomic single unknown 0.5 0 near-gene-5 exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19258425 19258426 rs553608002 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258440 19258441 rs578156469 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19258472 19258473 rs776052878 0 + T T -/T genomic deletion unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19258476 19258477 rs545261869 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19258480 19258481 rs76160151 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.082906 0.185956 near-gene-5 exact 1 MixedObserved 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 217.000000,4791.000000, 0.043331,0.956669, maf-5-some-pop 731 chr21 19258480 19258482 rs386816709 0 + TA TA CG/TA genomic mnp by-cluster 0 0 near-gene-5 rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19258481 19258482 rs76986895 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 near-gene-5 exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4811.000000,197.000000, 0.960663,0.039337, maf-5-some-pop 731 chr21 19258488 19258489 rs543033794 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258499 19258500 rs761137167 0 + G G G/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19258504 19258505 rs367664740 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 near-gene-5 exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19258524 19258525 rs759243862 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258541 19258542 rs764491601 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19258556 19258557 rs183029706 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19258592 19258592 rs36123130 0 + - - -/A genomic insertion unknown 0 0 near-gene-5 between 1 1 ABI, 0 731 chr21 19258643 19258644 rs540682192 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258662 19258663 rs559181738 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258696 19258698 rs769881580 0 + TA TA -/TA genomic deletion by-cluster 0 0 near-gene-5 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258728 19258729 rs767319372 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258745 19258746 rs533195957 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258763 19258764 rs370170095 0 + C C A/C genomic single by-cluster 0 0 near-gene-5 exact 1 2 JMKIDD_LAB,SSMP, 0 731 chr21 19258774 19258775 rs566581194 0 + C C A/C genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 731 chr21 19258781 19258782 rs536276834 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19258788 19258789 rs753110271 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258822 19258822 rs566971122 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.004781 0.048658 near-gene-5 between 1 1 1000GENOMES, 2 -,T, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19258829 19258829 rs377666598 0 + - - -/T genomic insertion unknown 0 0 near-gene-5 between 1 1 TISHKOFF, 0 731 chr21 19258845 19258846 rs551271995 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258856 19258857 rs186340274 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19258873 19258874 rs147684801 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 near-gene-5 exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4964.000000,44.000000, 0.991214,0.008786, 731 chr21 19258894 19258895 rs773221191 0 + A A -/A genomic deletion by-cluster 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258899 19258900 rs764608303 0 + C C C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258913 19258914 rs754309575 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258919 19258920 rs535992641 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 731 chr21 19258923 19258924 rs549414440 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19258924 19258925 rs2824533 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.275732 0.248672 near-gene-5 exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4181.000000,827.000000, 0.834864,0.165136, maf-5-some-pop 731 chr21 19258967 19258968 rs370761018 0 + G G G/T genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 731 chr21 19258988 19258989 rs778936989 0 + A A A/G genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19258989 19258990 rs57155684 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.151668 0.229849 near-gene-5 exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 414.000000,4594.000000, 0.082668,0.917332, maf-5-some-pop 731 chr21 19258990 19258991 rs191438742 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19259012 19259013 rs758611806 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259022 19259023 rs182381750 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19259023 19259024 rs141344276 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 near-gene-5 exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 G,T, 20.000000,4988.000000, 0.003994,0.996006, 731 chr21 19259053 19259054 rs74671107 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19259103 19259104 rs187925002 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 731 chr21 19259106 19259107 rs536510466 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19259124 19259125 rs769481100 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259131 19259132 rs777724884 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259136 19259137 rs537726499 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19259141 19259142 rs572481574 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 JMKIDD_LAB, 0 731 chr21 19259152 19259153 rs771041757 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259168 19259169 rs558055959 0 + G G G/T genomic single by-cluster 0 0 near-gene-5 exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259216 19259217 rs759185575 0 + T T A/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259219 19259220 rs192428723 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19259234 19259235 rs771840877 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259235 19259236 rs74438058 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 near-gene-5 exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 731 chr21 19259250 19259251 rs535049533 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 SSIP, 0 731 chr21 19259281 19259282 rs865931414 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19259289 19259290 rs559434495 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 near-gene-5 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19259308 19259309 rs761036602 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259310 19259311 rs2824534 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.469247 0.120128 near-gene-5 exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3125.000000,1883.000000, 0.624002,0.375998, maf-5-some-pop,genotype-conflict 731 chr21 19259316 19259317 rs372648386 0 + T T C/T genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 731 chr21 19259321 19259322 rs146971387 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19259408 19259409 rs73890799 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 near-gene-5 exact 1 7 1000GENOMES,BUSHMAN,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 731 chr21 19259420 19259421 rs762193622 0 + C C A/C genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259424 19259425 rs530828017 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19259434 19259435 rs781210610 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19259472 19259473 rs2824535 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.395087 0.203592 near-gene-5 exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1357.000000,3651.000000, 0.270966,0.729034, maf-5-some-pop 731 chr21 19259479 19259480 rs77142460 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.150667 0.229419 near-gene-5 exact 1 9 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4597.000000,411.000000, 0.917931,0.082069, maf-5-some-pop 731 chr21 19259486 19259487 rs758484076 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259548 19259549 rs9305828 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497387 0.036048 near-gene-5 exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2685.000000,2323.000000, 0.536142,0.463858, maf-5-some-pop,maf-5-all-pops 731 chr21 19259562 19259563 rs200529497 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 GMI, 0 731 chr21 19259569 19259570 rs554968707 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 near-gene-5 exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19259571 19259572 rs751761151 0 + T T A/T genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259583 19259584 rs201708182 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 GMI, 0 731 chr21 19259593 19259594 rs76265300 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.151668 0.229849 near-gene-5 exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4594.000000,414.000000, 0.917332,0.082668, maf-5-some-pop 731 chr21 19259634 19259635 rs538720384 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19259644 19259645 rs183291411 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19259656 19259657 rs371342508 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 2 1000GENOMES,SSMP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19259660 19259661 rs112399465 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.151001 0.229563 near-gene-5 exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 412.000000,4596.000000, 0.082268,0.917732, maf-5-some-pop 731 chr21 19259685 19259686 rs759119260 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 731 chr21 19259732 19259733 rs749149999 0 + C C C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259739 19259740 rs9305829 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 near-gene-5 exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PJP,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4952.000000,56.000000, 0.988818,0.011182, maf-5-some-pop 731 chr21 19259740 19259741 rs188026867 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19259774 19259775 rs779054723 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19259792 19259793 rs200059661 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 GMI, 0 731 chr21 19259802 19259803 rs1984348 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494855 0.050457 near-gene-5 exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2758.000000,2250.000000, 0.550719,0.449281, maf-5-some-pop,maf-5-all-pops 731 chr21 19259837 19259838 rs73317675 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.151334 0.229706 near-gene-5 exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 413.000000,4595.000000, 0.082468,0.917532, maf-5-some-pop 731 chr21 19259853 19259853 rs34923003 0 + - - -/G genomic insertion unknown 0 0 near-gene-5 between 1 1 ABI, 0 731 chr21 19259873 19259874 rs201784636 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 GMI, 0 731 chr21 19259885 19259886 rs577684285 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19259944 19259945 rs143173775 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19259949 19259950 rs563392530 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19259950 19259951 rs575550911 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19259953 19259954 rs370564710 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19259955 19259956 rs148199129 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19259967 19259968 rs73317676 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.150667 0.229419 unknown exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4597.000000,411.000000, 0.917931,0.082069, maf-5-some-pop 731 chr21 19259982 19259983 rs117231248 0 + C C C/T genomic single by-1000genomes 0.016528 0.089391 unknown exact 1 1 1000GENOMES, 2 C,T, 119.000000,1.000000, 0.991667,0.008333, 731 chr21 19259985 19259986 rs17002144 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19260001 19260002 rs750648827 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260012 19260013 rs77478236 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.071892 0.175435 unknown exact 1 10 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4821.000000,187.000000, 0.962660,0.037340, maf-5-some-pop 731 chr21 19260021 19260022 rs185470114 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19260067 19260068 rs73317677 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.151001 0.229563 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4596.000000,412.000000, 0.917732,0.082268, maf-5-some-pop 731 chr21 19260102 19260103 rs766469713 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260196 19260197 rs118084165 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 3 1000GENOMES,ILLUMINA,JMKIDD_LAB, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 731 chr21 19260207 19260208 rs569002508 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19260221 19260222 rs141131399 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19260230 19260231 rs755124396 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260259 19260260 rs548353432 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19260295 19260296 rs755098546 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19260303 19260304 rs566846373 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19260324 19260325 rs534191916 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19260334 19260335 rs187826896 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19260363 19260364 rs544421259 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19260386 19260387 rs753563222 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260390 19260391 rs192945919 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19260391 19260392 rs564400477 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19260392 19260393 rs572473972 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 731 chr21 19260409 19260410 rs150325544 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19260490 19260491 rs557126330 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19260497 19260498 rs575388001 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19260548 19260549 rs17002145 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.053216 0.154195 unknown exact 1 7 1000GENOMES,AFFY,HAMMER_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 137.000000,4871.000000, 0.027356,0.972644, maf-5-some-pop 731 chr21 19260561 19260562 rs554768041 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19260586 19260587 rs573181701 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19260600 19260601 rs540106900 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19260616 19260617 rs9653742 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.042201 0.138995 unknown exact 1 18 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop,genotype-conflict 731 chr21 19260628 19260629 rs745836234 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260638 19260639 rs796784787 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 731 chr21 19260664 19260665 rs752698878 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19260688 19260689 rs758455666 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260715 19260716 rs755891971 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19260732 19260733 rs56001327 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,HGSV,ILLUMINA, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19260742 19260743 rs779397490 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260761 19260762 rs371700995 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19260778 19260779 rs200877878 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19260796 19260797 rs530106796 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19260812 19260813 rs548390638 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19260813 19260814 rs566685118 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19260816 19260817 rs527992194 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19260847 19260848 rs866684551 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19260848 19260849 rs137910628 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19260855 19260856 rs560576243 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19260886 19260888 rs758247821 0 + AG AG -/AG genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 731 chr21 19260903 19260904 rs571107909 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19260930 19260931 rs775210560 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260966 19260967 rs748444224 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19260991 19260992 rs184204155 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 731 chr21 19260999 19261000 rs770175468 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19261099 19261100 rs577413462 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19261134 19261135 rs188067668 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19261173 19261173 rs200720631 0 + - - -/T genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 731 chr21 19261184 19261185 rs529353273 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19261217 19261218 rs180977654 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19261268 19261269 rs111678923 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.086546 0.189163 unknown exact 1 9 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 227.000000,4781.000000, 0.045327,0.954673, maf-5-some-pop 731 chr21 19261286 19261287 rs778653485 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19261338 19261339 rs2186654 0 + A A A/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 MixedObserved 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19261338 19261348 rs386816710 0 + ATACTCCCAA ATACTCCCAA ATACTCCCAA/TTACTCCCAT genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 731 chr21 19261347 19261348 rs1547231 0 + A A A/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19261350 19261351 rs540415928 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19261354 19261355 rs184680754 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19261360 19261361 rs78832603 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.070783 0.174302 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4824.000000,184.000000, 0.963259,0.036741, maf-5-some-pop 731 chr21 19261361 19261362 rs549483044 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19261423 19261424 rs569273597 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19261425 19261426 rs562509706 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19261439 19261440 rs757081884 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19261473 19261474 rs568567771 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19261505 19261506 rs375845534 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19261511 19261512 rs537560488 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19261518 19261519 rs765149634 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19261520 19261521 rs560203155 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19261565 19261566 rs527913377 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19261575 19261577 rs770804634 0 + GG GG -/GG genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 731 chr21 19261620 19261621 rs142450863 0 + T T G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19261640 19261641 rs758402596 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19261659 19261660 rs9712696 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SC_JCM, 0 731 chr21 19261736 19261737 rs780094173 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19261833 19261834 rs189517379 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19261855 19261856 rs115006064 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19261862 19261864 rs577955484 0 + GA GA -/GA genomic deletion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,GA, 10.000000,4998.000000, 0.001997,0.998003, 731 chr21 19261871 19261873 rs369266449 0 + AG AG -/AG genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 731 chr21 19261885 19261886 rs867049305 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19261948 19261949 rs564646435 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19261992 19261993 rs181488196 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19262015 19262016 rs766455858 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 731 chr21 19262016 19262017 rs9305830 0 + A A A/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 731 chr21 19262048 19262049 rs73890800 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 731 chr21 19262055 19262056 rs146136390 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19262112 19262113 rs747820428 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19262133 19262134 rs116399177 0 + T T C/T genomic single by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 731 chr21 19262135 19262136 rs186999429 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19262141 19262142 rs773534703 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19262145 19262146 rs113910935 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19262174 19262175 rs867106839 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19262190 19262191 rs762455917 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19262194 19262195 rs558692119 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19262215 19262219 rs746781788 0 + TGAA TGAA -/TGAA genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 731 chr21 19262269 19262270 rs111543440 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19262287 19262288 rs537707700 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19262296 19262297 rs550430340 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19262297 19262297 rs776379028 0 + - - -/TT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19262320 19262321 rs113354955 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.087272 0.189788 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 229.000000,4779.000000, 0.045727,0.954273, maf-5-some-pop 731 chr21 19262364 19262365 rs574539881 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19262455 19262456 rs74398453 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 731 chr21 19262487 19262488 rs74570713 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.071892 0.175435 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 187.000000,4821.000000, 0.037340,0.962660, maf-5-some-pop 731 chr21 19262529 19262530 rs572473995 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19262548 19262549 rs546095553 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19262568 19262569 rs186470405 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 731 chr21 19262569 19262570 rs369328366 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 4 1000GENOMES,SSIP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 731 chr21 19262582 19262583 rs570785783 0 + A A C/T genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 731 chr21 19262604 19262605 rs138954466 0 + A A A/G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,GMI, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19262631 19262632 rs534742985 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 731 chr21 19262635 19262636 rs562361982 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 731 chr21 19262636 19262637 rs73317681 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.087635 0.190099 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4778.000000,230.000000, 0.954073,0.045927, maf-5-some-pop 731 chr21 19262637 19262638 rs548188988 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19262661 19262662 rs571518511 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19262680 19262682 rs764842785 0 + TG TG -/TG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19262692 19262693 rs764474706 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19262749 19262750 rs566468531 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19262789 19262790 rs533851340 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19262789 19262799 rs557324802 0 + ACTATTGTAA ACTATTGTAA -/ACTATTGTAA genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 MixedObserved 1 1000GENOMES, 2 -,ACTATTGTAA, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19262806 19262807 rs751810059 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19262838 19262839 rs534126385 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19262839 19262840 rs372560594 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 731 chr21 19262844 19262845 rs577394610 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 731 chr21 19262917 19262918 rs189784476 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19262926 19262927 rs182450594 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19262927 19262928 rs149439063 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19262941 19262942 rs766161539 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19262949 19262950 rs553790951 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19262959 19262960 rs556072505 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19262983 19262984 rs187878969 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 731 chr21 19262984 19262985 rs535478007 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19262992 19262993 rs191043181 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 731 chr21 19263027 19263028 rs572454882 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19263042 19263043 rs546228487 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263056 19263056 rs202005101 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 731 chr21 19263069 19263070 rs557965910 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263072 19263073 rs751545567 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263085 19263086 rs753808234 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263104 19263105 rs752609184 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19263110 19263111 rs576749588 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19263148 19263149 rs544018092 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263171 19263172 rs111820737 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19263195 19263196 rs183303590 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 731 chr21 19263235 19263236 rs752245004 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263254 19263255 rs144826034 0 + A A A/C genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 731 chr21 19263262 19263263 rs112122003 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19263272 19263273 rs560054057 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263299 19263300 rs527398027 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263304 19263305 rs749947711 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263337 19263338 rs113275277 0 + A A A/C genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19263341 19263342 rs552297531 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263356 19263357 rs570445271 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19263366 19263367 rs531430553 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19263402 19263403 rs11352684 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.437683 0.165152 unknown exact 1 7 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,PJP,SSMP, 2 -,T, 1620.000000,3388.000000, 0.323482,0.676518, maf-5-some-pop,maf-5-all-pops 731 chr21 19263417 19263418 rs63167860 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BCMHGSC_JDW, 0 731 chr21 19263417 19263418 rs397866590 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 731 chr21 19263436 19263437 rs9808631 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.141258 0.225111 unknown exact 1 12 1000GENOMES,ABI,BCM_SSAHASNP,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 383.000000,4625.000000, 0.076478,0.923522, maf-5-some-pop 731 chr21 19263459 19263460 rs200449157 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19263466 19263467 rs568029735 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263537 19263538 rs753583206 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19263538 19263539 rs535893774 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19263548 19263549 rs865868267 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19263552 19263553 rs535324546 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19263573 19263574 rs755760646 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263574 19263575 rs553881315 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19263601 19263602 rs112014974 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19263626 19263627 rs188750220 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 731 chr21 19263629 19263630 rs201545107 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 731 chr21 19263668 19263669 rs558267972 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263669 19263670 rs576067591 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19263670 19263671 rs73208373 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.405081 0.196086 unknown exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3595.000000,1413.000000, 0.717851,0.282149, maf-5-some-pop,maf-5-all-pops 731 chr21 19263680 19263681 rs779250678 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263687 19263688 rs544054547 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263725 19263726 rs746412262 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263731 19263732 rs192959677 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19263754 19263755 rs574396210 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263797 19263798 rs775704010 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263827 19263828 rs541664336 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19263828 19263829 rs184823913 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19263832 19263833 rs760891867 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19263863 19263864 rs112645925 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 27.000000,4981.000000, 0.005391,0.994609, 731 chr21 19263894 19263895 rs545459592 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19263896 19263897 rs373816330 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19263920 19263921 rs146106838 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF,WARNICH_LAB, 2 -,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 731 chr21 19263926 19263927 rs376363876 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19263990 19263991 rs10482891 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.187053 0.241946 unknown exact 1 17 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 523.000000,4485.000000, 0.104433,0.895567, maf-5-some-pop,microattr-tpa 731 chr21 19264001 19264002 rs776995478 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264036 19264037 rs770373494 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19264053 19264054 rs773868029 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19264068 19264069 rs373601724 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19264073 19264074 rs111629722 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.091253 0.193131 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4768.000000,240.000000, 0.952077,0.047923, maf-5-some-pop 731 chr21 19264088 19264089 rs766217929 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264138 19264139 rs575812350 0 + C C A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 731 chr21 19264154 19264155 rs10482892 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 16 1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 731 chr21 19264165 19264166 rs112689255 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 4 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19264168 19264169 rs772476471 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_MGP, 0 731 chr21 19264203 19264204 rs567864736 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19264233 19264234 rs147273624 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 731 chr21 19264240 19264241 rs773816224 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_MGP, 0 731 chr21 19264262 19264263 rs767510710 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264275 19264276 rs547708139 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19264324 19264325 rs752191869 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264330 19264331 rs375313213 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19264346 19264347 rs76049325 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4872.000000,136.000000, 0.972843,0.027157, maf-5-some-pop 731 chr21 19264379 19264380 rs368614424 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19264407 19264408 rs777342053 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264414 19264415 rs140865633 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19264424 19264425 rs570182237 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19264454 19264455 rs753561882 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264494 19264495 rs117213540 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 731 chr21 19264499 19264500 rs556000114 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19264514 19264515 rs574331781 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19264521 19264522 rs144705472 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 731 chr21 19264541 19264542 rs771392970 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19264547 19264548 rs147622330 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19264560 19264561 rs779317199 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264584 19264585 rs11910311 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.117537 0.212022 unknown exact 1 16 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4694.000000,314.000000, 0.937300,0.062700, maf-5-some-pop 731 chr21 19264600 19264601 rs868320563 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19264624 19264625 rs545798074 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19264642 19264643 rs549122777 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19264668 19264669 rs867099513 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19264728 19264729 rs867731617 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19264751 19264752 rs2824536 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.394171 0.204242 unknown exact 1 25 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3656.000000,1352.000000, 0.730032,0.269968, maf-5-some-pop 731 chr21 19264765 19264766 rs767465340 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19264802 19264803 rs575735044 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19264825 19264826 rs140073575 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0.052838 0.153711 unknown exact 1 4 1000GENOMES,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,G, 136.000000,4872.000000, 0.027157,0.972843, 731 chr21 19264848 19264849 rs866769034 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19264853 19264854 rs9808712 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.143622 0.226238 unknown exact 1 20 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4618.000000,390.000000, 0.922125,0.077875, maf-5-some-pop,genotype-conflict 731 chr21 19264929 19264930 rs760768326 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19264955 19264956 rs529549491 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19264956 19264957 rs374923030 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19264985 19264986 rs191279294 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 731 chr21 19265012 19265013 rs547256180 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19265061 19265061 rs35606350 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.144296 0.226554 unknown between 1 10 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 4616.000000,392.000000, 0.921725,0.078275, maf-5-some-pop 731 chr21 19265081 19265082 rs116106769 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 4975.000000,33.000000, 0.993411,0.006589, 731 chr21 19265087 19265088 rs533046563 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19265102 19265103 rs368169423 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 731 chr21 19265130 19265131 rs551812282 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19265139 19265140 rs183636912 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19265168 19265169 rs537439695 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19265179 19265180 rs549539806 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19265185 19265185 rs552816878 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown between 1 2 1000GENOMES,HAMMER_LAB, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19265188 19265189 rs77309355 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 136.000000,4872.000000, 0.027157,0.972843, maf-5-some-pop 731 chr21 19265189 19265189 rs111952815 0 + - - -/T genomic insertion by-cluster 0.5 0 unknown between 1 2 BUSHMAN,TISHKOFF, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 731 chr21 19265229 19265230 rs9808749 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.143622 0.226238 unknown exact 1 17 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 390.000000,4618.000000, 0.077875,0.922125, maf-5-some-pop 731 chr21 19265263 19265264 rs534683846 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19265269 19265270 rs8132153 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.122758 0.215196 unknown exact 1 34 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4679.000000,329.000000, 0.934305,0.065695, maf-5-some-pop 731 chr21 19265270 19265271 rs114839296 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 731 chr21 19265298 19265299 rs538916511 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19265322 19265323 rs557226058 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19265341 19265342 rs140814310 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 731 chr21 19265349 19265350 rs542997193 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19265401 19265402 rs149749219 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19265403 19265404 rs537153681 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19265444 19265445 rs758025350 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19265478 19265479 rs573628657 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19265488 19265489 rs17002151 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.143622 0.226238 unknown exact 1 18 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4618.000000,390.000000, 0.922125,0.077875, maf-5-some-pop 731 chr21 19265501 19265502 rs559244588 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19265512 19265513 rs760126521 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19265514 19265515 rs781359928 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19265516 19265517 rs533263216 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19265519 19265520 rs28525393 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.144296 0.226554 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4616.000000,392.000000, 0.921725,0.078275, maf-5-some-pop 731 chr21 19265520 19265521 rs189175732 0 + G G C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 731 chr21 19265537 19265538 rs754539030 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 731 chr21 19265555 19265556 rs145595638 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19265565 19265566 rs148824157 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19265582 19265583 rs17002153 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.117537 0.212022 unknown exact 1 17 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 314.000000,4694.000000, 0.062700,0.937300, maf-5-some-pop,genotype-conflict 731 chr21 19265598 19265599 rs113605494 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19265623 19265624 rs145292096 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19265652 19265653 rs373042771 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 731 chr21 19265666 19265667 rs764869856 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19265669 19265670 rs750735870 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19265681 19265682 rs758849543 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19265699 19265700 rs9982357 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.143622 0.226238 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4618.000000,390.000000, 0.922125,0.077875, maf-5-some-pop 731 chr21 19265706 19265707 rs747552148 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19265790 19265791 rs755583589 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19265802 19265802 rs57063371 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 731 chr21 19265924 19265925 rs185051701 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 731 chr21 19265925 19265926 rs190143976 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,HAMMER_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19265944 19265945 rs557262980 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19265967 19265968 rs7278320 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.494936 0.050064 unknown exact 1 30 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 2756.000000,2252.000000, 0.550319,0.449681, maf-5-some-pop,maf-5-all-pops 731 chr21 19266004 19266005 rs536668820 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 731 chr21 19266050 19266051 rs9982068 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.141258 0.225111 unknown exact 1 17 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 383.000000,4625.000000, 0.076478,0.923522, maf-5-some-pop 731 chr21 19266055 19266056 rs573692372 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19266079 19266080 rs540725332 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19266134 19266135 rs745617029 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266212 19266213 rs553030539 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19266229 19266230 rs181851957 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA-GONL,GMI, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19266233 19266234 rs137877068 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19266280 19266281 rs563603964 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19266319 19266320 rs530789939 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19266329 19266330 rs9974302 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.142947 0.22592 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4620.000000,388.000000, 0.922524,0.077476, maf-5-some-pop 731 chr21 19266387 19266387 rs772240084 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 731 chr21 19266406 19266407 rs73319555 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.089808 0.191933 unknown exact 1 9 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 236.000000,4772.000000, 0.047125,0.952875, maf-5-some-pop 731 chr21 19266442 19266443 rs9305831 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.142947 0.22592 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4620.000000,388.000000, 0.922524,0.077476, maf-5-some-pop 731 chr21 19266457 19266457 rs76115259 0 + - - -/TA genomic insertion unknown 0 0 unknown between 1 1 BCMHGSC_JDW, 0 731 chr21 19266485 19266486 rs764063309 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266489 19266490 rs531830616 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 731 chr21 19266567 19266568 rs761237457 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266583 19266584 rs764888995 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266606 19266607 rs571695655 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19266608 19266609 rs7282252 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.142947 0.22592 unknown exact 1 20 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 388.000000,4620.000000, 0.077476,0.922524, maf-5-some-pop 731 chr21 19266613 19266614 rs758798147 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266626 19266626 rs34351658 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19266645 19266646 rs565049886 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19266646 19266647 rs752020676 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266698 19266699 rs867291515 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19266705 19266706 rs755528510 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266733 19266734 rs146358910 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 MixedObserved 2 1000GENOMES,LUNTER, 2 -,C, 37.000000,4971.000000, 0.007388,0.992612, 731 chr21 19266733 19266734 rs569226503 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19266753 19266754 rs781615508 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19266766 19266767 rs867377130 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19266772 19266773 rs531109022 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 -,C, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19266779 19266780 rs536510404 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19266792 19266793 rs866321480 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19266804 19266805 rs140944114 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 731 chr21 19266811 19266812 rs2824537 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.109108 0.206518 unknown exact 1 11 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 290.000000,4718.000000, 0.057907,0.942093, maf-5-some-pop 731 chr21 19266827 19266828 rs7283134 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.142272 0.225598 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4622.000000,386.000000, 0.922923,0.077077, maf-5-some-pop 731 chr21 19266828 19266829 rs547286359 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19266867 19266868 rs552827418 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19266868 19266869 rs577792161 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19266871 19266872 rs545247139 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19266874 19266875 rs71319663 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 8 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,WEILL_CORNELL_DGM, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 731 chr21 19266880 19266881 rs7283258 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185788 0.241613 unknown exact 1 MixedObserved 9 1000GENOMES,BCM_SSAHASNP,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 731 chr21 19266880 19266883 rs386816711 0 + ATG ATG ATG/GTA genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19266881 19266882 rs113180443 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 BUSHMAN,EVA_DECODE, 1 C, 1.000000, 1.000000, 731 chr21 19266882 19266883 rs7281631 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185788 0.241613 unknown exact 1 9 1000GENOMES,BCM_SSAHASNP,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 731 chr21 19266891 19266892 rs190428810 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 731 chr21 19266953 19266954 rs528507426 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19267003 19267004 rs7282865 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 unknown exact 1 MixedObserved 7 1000GENOMES,BCM_SSAHASNP,BUSHMAN,EVA_DECODE,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4913.000000,95.000000, 0.981030,0.018970, 731 chr21 19267003 19267005 rs199947432 0 + CC CC -/CC genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 MixedObserved 1 1000GENOMES, 2 -,CC, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19267007 19267009 rs148842419 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.379158 0.214052 unknown range 1 DuplicateObserved 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,CT, 1273.000000,3735.000000, 0.254193,0.745807, maf-5-some-pop 731 chr21 19267007 19267007 rs762359604 0 + - - -/CT genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 DDI, 0 731 chr21 19267020 19267021 rs144653764 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4971.000000,37.000000, 0.992612,0.007388, 731 chr21 19267024 19267025 rs746860326 0 + A A A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19267024 19267025 rs777899756 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19267051 19267052 rs532433519 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19267085 19267086 rs138975566 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 731 chr21 19267088 19267089 rs530857226 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 731 chr21 19267093 19267093 rs34340491 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 731 chr21 19267104 19267105 rs141504515 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19267165 19267166 rs530231471 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19267190 19267191 rs7278271 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185788 0.241613 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 731 chr21 19267231 19267232 rs138301518 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19267232 19267233 rs534350327 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 731 chr21 19267247 19267248 rs776451075 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 731 chr21 19267276 19267277 rs7276819 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185788 0.241613 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 731 chr21 19267280 19267281 rs147254519 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 731 chr21 19267314 19267315 rs140691109 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 731 chr21 19267363 19267364 rs114926457 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.186105 0.241697 unknown exact 1 MixedObserved 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4488.000000,520.000000, 0.896166,0.103834, maf-5-some-pop 731 chr21 19267363 19267365 rs386816712 0 + AC AC AC/GG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 731 chr21 19267364 19267365 rs116026357 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.186105 0.241697 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4488.000000,520.000000, 0.896166,0.103834, maf-5-some-pop 731 chr21 19267376 19267377 rs180680388 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 731 chr21 19267390 19267391 rs111698476 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.089808 0.191933 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4772.000000,236.000000, 0.952875,0.047125, maf-5-some-pop 731 chr21 19267436 19267436 rs141372080 0 + - - -/GGGGG/GGGGGG genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 731 chr21 19267446 19267447 rs565452885 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 731 chr21 19267507 19267507 rs201877181 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.180383 0.240111 unknown between 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 2 -,T, 4506.000000,502.000000, 0.899760,0.100240, maf-5-some-pop 731 chr21 19267512 19267513 rs772436047 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 731 chr21 19267513 19267514 rs868124503 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 731 chr21 19267517 19267519 rs200565839 0 + TG TG -/TG genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 731 chr21 19267518 19267519 rs185344093 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.185155 0.241444 unknown exact 1 MixedObserved 2 1000GENOMES,EVA_DECODE, 2 G,T, 4491.000000,517.000000, 0.896765,0.103235, maf-5-some-pop 731 chr21 19267518 19267519 rs201784872 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.180383 0.240111 unknown exact 1 MixedObserved 3 1000GENOMES,EVA_DECODE,HAMMER_LAB, 2 -,G, 502.000000,4506.000000, 0.100240,0.899760, maf-5-some-pop 731 chr21 19267519 19267519 rs534084876 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 731 chr21 19267546 19267547 rs540282489 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 731 chr21 19267578 19267579 rs565244538 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19267584 19267585 rs113587666 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19267595 19267596 rs148666362 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19267601 19267602 rs574271903 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19267615 19267616 rs562633373 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19267629 19267630 rs530267335 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19267631 19267631 rs200116831 0 + - - -/T genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 732 chr21 19267633 19267634 rs59083609 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.493881 0.054972 unknown exact 1 MixedObserved 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,WEILL_CORNELL_DGM, 2 C,T, 2781.000000,2227.000000, 0.555312,0.444688, maf-5-some-pop,maf-5-all-pops 732 chr21 19267633 19267635 rs796528208 0 + CG CG CG/TGT genomic in-del unknown 0 0 unknown rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 732 chr21 19267635 19267636 rs199813144 0 + A A A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 732 chr21 19267635 19267635 rs34951165 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown between 1 MixedObserved 13 1000GENOMES,ABI,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19267636 19267637 rs200739011 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 732 chr21 19267637 19267638 rs201750530 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 732 chr21 19267638 19267639 rs199910796 0 + T T A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 732 chr21 19267638 19267641 rs761833881 0 + TCT TCT -/TCT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_DECODE, 0 732 chr21 19267641 19267642 rs189519623 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 732 chr21 19267644 19267645 rs181128547 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 MPI_MOLGEN, 0 732 chr21 19267644 19267646 rs202050571 0 + TC TC -/TC genomic deletion by-1000genomes 0 0 unknown range 1 MixedObserved 1 1000GENOMES, 0 732 chr21 19267645 19267646 rs28767243 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 732 chr21 19267646 19267646 rs796207657 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HAMMER_LAB, 0 732 chr21 19267648 19267649 rs142140828 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19267678 19267679 rs151194106 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19267679 19267680 rs112333268 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.185472 0.241529 unknown exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 518.000000,4490.000000, 0.103435,0.896565, maf-5-some-pop 732 chr21 19267701 19267702 rs571307881 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19267708 19267709 rs9977416 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.185472 0.241529 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4490.000000,518.000000, 0.896565,0.103435, maf-5-some-pop 732 chr21 19267732 19267733 rs9977475 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.185472 0.241529 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4490.000000,518.000000, 0.896565,0.103435, maf-5-some-pop 732 chr21 19267780 19267781 rs756177284 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19267784 19267785 rs76712491 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.019769 0.097435 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4958.000000,50.000000, 0.990016,0.009984, 732 chr21 19267788 19267789 rs140773834 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4913.000000,95.000000, 0.981030,0.018970, 732 chr21 19267789 19267790 rs554713980 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 732 chr21 19267796 19267797 rs190924727 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19267801 19267802 rs779168451 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19267808 19267809 rs534047592 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19267832 19267833 rs529986582 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19267840 19267841 rs752209987 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19267841 19267842 rs113266241 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19267857 19267858 rs112559102 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19267885 19267886 rs113114281 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19267893 19267894 rs111889885 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19267921 19267922 rs59243380 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HGSV, 2 A,G, 45.000000,4963.000000, 0.008986,0.991014, 732 chr21 19267937 19267938 rs772584875 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19267940 19267941 rs560687937 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19267942 19267943 rs74552967 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 732 chr21 19267953 19267954 rs527874931 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19268003 19268004 rs113114662 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 14 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,T, 4958.000000,50.000000, 0.990016,0.009984, 732 chr21 19268010 19268011 rs59190532 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19268010 19268011 rs200860785 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 732 chr21 19268046 19268047 rs762619005 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268099 19268100 rs546514403 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19268111 19268112 rs142023364 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19268204 19268205 rs770641052 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268211 19268212 rs780432066 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19268228 19268229 rs544754014 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19268238 19268239 rs564752326 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19268255 19268256 rs774159809 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268277 19268278 rs7283016 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 MixedObserved 11 1000GENOMES,BCM_SSAHASNP,CSHL-HAPMAP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19268277 19268279 rs386816713 0 + CA CA CA/TG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19268278 19268279 rs7283577 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19268283 19268284 rs753143816 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268295 19268296 rs568987943 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19268309 19268310 rs761061476 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268326 19268327 rs146896349 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19268387 19268388 rs183972474 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19268400 19268401 rs139051533 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19268426 19268427 rs78018451 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19268431 19268432 rs28851317 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.073 0.176553 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 190.000000,4818.000000, 0.037939,0.962061, maf-5-some-pop 732 chr21 19268445 19268446 rs188914585 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19268450 19268451 rs757346602 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268456 19268457 rs570394009 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19268468 19268469 rs779061540 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268488 19268489 rs537873005 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19268506 19268507 rs7278748 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19268516 19268517 rs191812678 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19268517 19268518 rs7282251 0 + G G A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 14 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19268571 19268572 rs553964096 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19268611 19268612 rs769614786 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19268640 19268641 rs572633104 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19268686 19268687 rs149585532 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19268707 19268708 rs564791497 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19268714 19268715 rs532008569 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19268742 19268743 rs544234536 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19268753 19268754 rs183638991 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,MPI_MOLGEN, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19268756 19268757 rs8126686 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,WI_SSAHASNP, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19268758 19268759 rs536927669 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19268814 19268815 rs191729165 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19268853 19268854 rs527511607 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19268868 19268869 rs202118921 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.495891 0.045141 unknown exact 1 9 1000GENOMES,BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP, 2 -,T, 2277.000000,2731.000000, 0.454673,0.545327, maf-5-some-pop,maf-5-all-pops 732 chr21 19268878 19268880 rs869143848 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 732 chr21 19268879 19268880 rs34720724 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 SingleAlleleFreq 3 ABI,HUMANGENOME_JCVI,PJP, 1 -, 2.000000, 1.000000, 732 chr21 19268882 19268883 rs113950134 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19268989 19268990 rs551927163 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19269018 19269019 rs7279568 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.03722 0.131242 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 95.000000,4913.000000, 0.018970,0.981030, maf-5-some-pop 732 chr21 19269033 19269035 rs113307214 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.185472 0.241529 unknown range 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,AA, 518.000000,4490.000000, 0.103435,0.896565, maf-5-some-pop 732 chr21 19269049 19269050 rs538988690 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269067 19269068 rs9974706 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.185472 0.241529 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 518.000000,4490.000000, 0.103435,0.896565, maf-5-some-pop 732 chr21 19269091 19269092 rs182087644 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19269108 19269109 rs568480810 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269110 19269111 rs7275353 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185472 0.241529 unknown exact 1 13 1000GENOMES,BCM_SSAHASNP,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4490.000000,518.000000, 0.896565,0.103435, maf-5-some-pop 732 chr21 19269170 19269171 rs554266377 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269206 19269207 rs111825123 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19269215 19269216 rs186722157 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19269289 19269290 rs771803808 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269297 19269300 rs201844144 0 + ATG ATG -/ATG genomic deletion by-cluster,by-frequency,by-1000genomes 0.185472 0.241529 unknown range 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,ATG, 518.000000,4490.000000, 0.103435,0.896565, maf-5-some-pop 732 chr21 19269323 19269324 rs546435507 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269325 19269326 rs558341550 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19269344 19269345 rs7283646 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185788 0.241613 unknown exact 1 13 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19269363 19269364 rs146508445 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269415 19269416 rs116676958 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4951.000000,57.000000, 0.988618,0.011382, 732 chr21 19269446 19269447 rs574409311 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269447 19269448 rs7278330 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.186105 0.241697 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 520.000000,4488.000000, 0.103834,0.896166, maf-5-some-pop 732 chr21 19269464 19269465 rs764437335 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269488 19269489 rs777149773 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269493 19269494 rs543620408 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19269500 19269501 rs373629793 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19269513 19269514 rs7279484 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19269517 19269518 rs551965597 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19269573 19269574 rs192424173 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269582 19269583 rs185614023 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19269591 19269592 rs551751914 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19269598 19269599 rs61064694 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 3 1000GENOMES,HGSV,WEILL_CORNELL_DGM, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19269631 19269632 rs568240571 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269650 19269651 rs750551976 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269664 19269665 rs4818387 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 16 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19269679 19269680 rs547439896 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269701 19269702 rs766690356 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269717 19269718 rs566174487 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19269741 19269742 rs752368893 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269745 19269746 rs140238781 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19269747 19269748 rs558278749 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19269763 19269764 rs200149151 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 732 chr21 19269765 19269766 rs200781876 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 732 chr21 19269780 19269781 rs190546624 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19269782 19269783 rs112586928 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 2 BCM-HGSC-SUB,GMI, 0 732 chr21 19269799 19269800 rs537627181 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19269810 19269811 rs772898064 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269824 19269825 rs751858343 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19269826 19269827 rs189776861 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 732 chr21 19269827 19269828 rs4818388 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.186105 0.241697 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 520.000000,4488.000000, 0.103834,0.896166, maf-5-some-pop 732 chr21 19269847 19269848 rs574223422 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19269853 19269854 rs541827201 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19269868 19269869 rs4818389 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.186105 0.241697 unknown exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 520.000000,4488.000000, 0.103834,0.896166, maf-5-some-pop 732 chr21 19269875 19269876 rs748640776 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19269906 19269907 rs571813028 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19269914 19269915 rs4818390 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185788 0.241613 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19269934 19269935 rs563821458 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19269945 19269946 rs531428514 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19269976 19269977 rs142500771 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19269993 19269994 rs193142636 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19270001 19270002 rs536409741 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19270019 19270020 rs550401875 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19270042 19270043 rs375801852 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19270063 19270064 rs374904657 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19270093 19270094 rs530749084 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 -,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19270101 19270102 rs529134935 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19270118 19270119 rs368447489 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19270125 19270126 rs4818391 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.185788 0.241613 unknown exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19270196 19270197 rs9981312 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19270221 19270222 rs747291845 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270233 19270234 rs539834577 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19270260 19270261 rs9981082 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19270265 19270266 rs9983745 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19270319 19270320 rs9981421 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19270322 19270323 rs555649981 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19270345 19270346 rs574288215 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19270354 19270355 rs184542703 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19270442 19270443 rs554732940 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19270449 19270450 rs9981587 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19270450 19270451 rs146906734 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19270458 19270459 rs545369923 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19270478 19270478 rs200116118 0 + - - -/TG genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 732 chr21 19270479 19270479 rs201245903 0 + - - -/GA genomic insertion by-cluster,by-frequency,by-1000genomes 0.185155 0.241444 unknown between 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,GA, 4491.000000,517.000000, 0.896765,0.103235, maf-5-some-pop 732 chr21 19270480 19270480 rs369322317 0 + - - -/AG genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 732 chr21 19270484 19270485 rs773162984 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270521 19270522 rs763098400 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270529 19270530 rs766454285 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270533 19270534 rs557449484 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19270535 19270536 rs9984011 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19270540 19270541 rs543612397 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19270569 19270570 rs139296961 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19270570 19270571 rs529080802 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19270584 19270585 rs552694406 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19270584 19270585 rs755825227 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270584 19270584 rs35693301 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 732 chr21 19270625 19270626 rs56761335 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.073 0.176553 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4818.000000,190.000000, 0.962061,0.037939, maf-5-some-pop 732 chr21 19270634 19270635 rs13048161 0 + C C C/G genomic single unknown 0 0 unknown exact 1 5 ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PJP,SSAHASNP, 0 732 chr21 19270649 19270650 rs9636658 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.407502 0.194147 unknown exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1427.000000,3581.000000, 0.284944,0.715056, maf-5-some-pop,maf-5-all-pops 732 chr21 19270680 19270681 rs533394108 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19270682 19270683 rs9984115 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19270722 19270723 rs558897745 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19270727 19270728 rs570180171 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19270742 19270743 rs745305618 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270751 19270752 rs776083039 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19270762 19270763 rs188511142 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19270787 19270788 rs549558676 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19270790 19270791 rs181351540 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 23.000000,4985.000000, 0.004593,0.995407, 732 chr21 19270854 19270855 rs761320268 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19270879 19270880 rs532331415 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19270892 19270893 rs552417927 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19270911 19270916 rs796799265 0 + TTTGT TTTGT -/TTTGT genomic deletion unknown 0 0 unknown range 1 1 HAMMER_LAB, 0 732 chr21 19270918 19270919 rs528045365 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19270927 19270928 rs9984293 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.186421 0.24178 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 521.000000,4487.000000, 0.104034,0.895966, maf-5-some-pop 732 chr21 19270935 19270936 rs779537012 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270943 19270944 rs7280675 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.186421 0.24178 unknown exact 1 17 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 521.000000,4487.000000, 0.104034,0.895966, maf-5-some-pop 732 chr21 19270955 19270956 rs185814217 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19270960 19270961 rs539060301 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19270961 19270962 rs7280681 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.186421 0.24178 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 521.000000,4487.000000, 0.104034,0.895966, maf-5-some-pop,genotype-conflict 732 chr21 19270983 19270984 rs575735097 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19270986 19270987 rs748581232 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19270992 19270993 rs7276855 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.186421 0.24178 unknown exact 1 17 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4487.000000,521.000000, 0.895966,0.104034, maf-5-some-pop 732 chr21 19271004 19271005 rs532833472 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19271033 19271034 rs7275405 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.186421 0.24178 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4487.000000,521.000000, 0.895966,0.104034, maf-5-some-pop 732 chr21 19271067 19271068 rs573789243 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19271074 19271075 rs189395895 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271097 19271098 rs559706758 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19271098 19271099 rs7276455 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.186105 0.241697 unknown exact 1 16 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4488.000000,520.000000, 0.896166,0.103834, maf-5-some-pop 732 chr21 19271112 19271113 rs545431959 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271115 19271116 rs142520245 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19271135 19271136 rs530932625 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19271152 19271153 rs549253426 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19271155 19271156 rs567725392 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19271192 19271193 rs528698658 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271193 19271194 rs7280693 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 16 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19271194 19271195 rs767906357 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271200 19271201 rs7280187 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 16 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19271217 19271218 rs538898691 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19271225 19271226 rs761701626 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271231 19271232 rs765204808 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271254 19271255 rs11911838 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19271268 19271269 rs569589289 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271286 19271287 rs537033504 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19271360 19271361 rs771865219 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19271366 19271368 rs752126196 0 + TG TG -/TG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271399 19271400 rs555200749 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271404 19271405 rs573653674 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19271427 19271428 rs61693615 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.073 0.176553 unknown exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 190.000000,4818.000000, 0.037939,0.962061, maf-5-some-pop 732 chr21 19271435 19271436 rs751090544 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271442 19271443 rs754621961 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271542 19271543 rs553163301 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19271565 19271566 rs143474010 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 124.000000,4884.000000, 0.024760,0.975240, maf-5-some-pop 732 chr21 19271574 19271575 rs7276163 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.011909 0.076241 unknown exact 1 4 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 732 chr21 19271583 19271584 rs148395223 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19271592 19271593 rs60672141 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4875.000000,133.000000, 0.973442,0.026557, maf-5-some-pop 732 chr21 19271596 19271597 rs778101336 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271598 19271599 rs561466136 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19271603 19271604 rs9983801 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 519.000000,4489.000000, 0.103634,0.896366, maf-5-some-pop 732 chr21 19271606 19271607 rs181036463 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271618 19271619 rs368824856 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19271668 19271669 rs576653185 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19271689 19271690 rs771388482 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271752 19271753 rs371727603 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19271762 19271763 rs546792569 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19271764 19271765 rs9984931 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.185788 0.241613 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19271770 19271771 rs532556859 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19271786 19271787 rs759753870 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19271806 19271807 rs9984612 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.185788 0.241613 unknown exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4489.000000,519.000000, 0.896366,0.103634, maf-5-some-pop 732 chr21 19271817 19271818 rs187384975 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19271841 19271842 rs536670640 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19271842 19271843 rs548930211 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19271865 19271866 rs567260315 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271874 19271875 rs534661215 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271875 19271876 rs191982821 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19271959 19271960 rs577955041 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271990 19271991 rs9984142 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.497416 0.03585 unknown exact 1 28 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2684.000000,2324.000000, 0.535942,0.464058, maf-5-some-pop,maf-5-all-pops 732 chr21 19271993 19271994 rs182749329 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19271997 19271998 rs561765448 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272096 19272097 rs375440839 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA-GONL,TISHKOFF, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19272097 19272098 rs181506843 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 732 chr21 19272163 19272164 rs750238888 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272168 19272169 rs150946502 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 109.000000,4899.000000, 0.021765,0.978235, maf-5-some-pop 732 chr21 19272178 19272179 rs766296801 0 + C C A/C/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272179 19272180 rs185935546 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19272234 19272235 rs780775276 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272319 19272320 rs573151467 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19272323 19272324 rs540368151 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19272335 19272336 rs565022212 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19272387 19272388 rs375060351 0 + G G C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19272402 19272403 rs752376234 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272418 19272419 rs189991360 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19272465 19272466 rs4818392 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.03722 0.131242 unknown exact 1 17 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 95.000000,4913.000000, 0.018970,0.981030, maf-5-some-pop 732 chr21 19272473 19272474 rs79882542 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.165527 0.235296 unknown exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 456.000000,4552.000000, 0.091054,0.908946, maf-5-some-pop 732 chr21 19272482 19272483 rs111658353 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.073 0.176553 unknown exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4818.000000,190.000000, 0.962061,0.037939, maf-5-some-pop 732 chr21 19272529 19272530 rs373280380 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19272552 19272553 rs142539209 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19272556 19272556 rs767931302 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272565 19272566 rs73319569 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4816.000000,192.000000, 0.961661,0.038339, maf-5-some-pop 732 chr21 19272574 19272575 rs146861651 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19272576 19272577 rs182446844 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19272609 19272609 rs34108908 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19272648 19272649 rs538849874 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19272663 19272664 rs779289484 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272669 19272670 rs147927122 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 32.000000,4976.000000, 0.006390,0.993610, 732 chr21 19272690 19272691 rs569058631 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19272702 19272703 rs774810776 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19272718 19272719 rs536594551 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19272741 19272742 rs376675680 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19272749 19272750 rs796735628 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 732 chr21 19272808 19272808 rs35046852 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19272810 19272811 rs772296906 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19272813 19272814 rs572936530 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19272833 19272834 rs867030400 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19272836 19272837 rs373329126 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19272847 19272848 rs533764252 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19272866 19272867 rs376629155 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19272870 19272871 rs558649132 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19272876 19272877 rs768092641 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19272991 19272992 rs576892885 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19272999 19273001 rs202093393 0 + GC GC -/GC genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 732 chr21 19273000 19273001 rs112689807 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 C,T, 4976.000000,32.000000, 0.993610,0.006390, 732 chr21 19273001 19273004 rs148414809 0 + GCT GCT -/GCT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 4 1000GENOMES,HAMMER_LAB,LUNTER,TISHKOFF, 0 732 chr21 19273023 19273024 rs563052189 0 + T T A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19273033 19273034 rs747216786 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273038 19273039 rs768821043 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273042 19273043 rs532718969 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19273056 19273057 rs773059044 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273076 19273077 rs530230079 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19273113 19273114 rs8129423 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.395818 0.203069 unknown exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3647.000000,1361.000000, 0.728235,0.271765, maf-5-some-pop,maf-5-all-pops 732 chr21 19273162 19273163 rs560611230 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19273174 19273175 rs528124056 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19273176 19273177 rs546162677 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 G,T, 68.000000,4940.000000, 0.013578,0.986422, maf-5-some-pop 732 chr21 19273189 19273190 rs759008149 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273246 19273247 rs571371170 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19273258 19273259 rs752963604 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19273260 19273261 rs201215754 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 732 chr21 19273295 19273296 rs570182008 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19273316 19273317 rs532196180 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19273321 19273322 rs113209546 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 41.000000,4967.000000, 0.008187,0.991813, 732 chr21 19273330 19273331 rs752253341 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273439 19273440 rs755775881 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273469 19273470 rs763720464 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273470 19273471 rs118039380 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19273481 19273482 rs536042042 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19273510 19273511 rs554875661 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19273550 19273551 rs566400569 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19273558 19273559 rs533948027 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19273581 19273582 rs558483075 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19273587 19273588 rs35619994 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.388775 0.207946 unknown exact 1 DuplicateObserved 13 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 1323.000000,3685.000000, 0.264177,0.735823, maf-5-some-pop 732 chr21 19273587 19273587 rs757404479 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 EVA_DECODE, 0 732 chr21 19273591 19273592 rs113410907 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.091723 0.193516 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,GMI,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 240.000000,4741.000000, 0.048183,0.951817, maf-5-some-pop 732 chr21 19273591 19273592 rs397866705 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 732 chr21 19273592 19273592 rs201090352 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.011261 0.074188 unknown between 1 1 1000GENOMES, 2 -,C, 4741.000000,27.000000, 0.994337,0.005663, 732 chr21 19273606 19273607 rs757573032 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273625 19273626 rs9982373 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.493477 0.056735 unknown exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2218.000000,2790.000000, 0.442891,0.557109, maf-5-some-pop,maf-5-all-pops 732 chr21 19273626 19273627 rs746405381 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273641 19273642 rs556374863 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19273653 19273654 rs759026338 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273666 19273667 rs575012905 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19273713 19273714 rs113888471 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 G,T, 44.000000,4964.000000, 0.008786,0.991214, 732 chr21 19273715 19273716 rs143295678 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 58.000000,4950.000000, 0.011582,0.988419, 732 chr21 19273717 19273718 rs376252975 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19273719 19273719 rs35927220 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19273735 19273736 rs527946165 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19273744 19273745 rs747157467 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273748 19273749 rs9982541 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.055854 0.157504 unknown exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 144.000000,4864.000000, 0.028754,0.971246, maf-5-some-pop 732 chr21 19273793 19273794 rs776732734 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273818 19273819 rs182757849 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19273843 19273844 rs749063018 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273851 19273852 rs796457864 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 732 chr21 19273865 19273866 rs537122904 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273886 19273887 rs532134866 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19273910 19273911 rs367740651 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19273919 19273920 rs550684121 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19273938 19273941 rs199972637 0 + GTA GTA -/GTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,GTA, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19273971 19273972 rs568837109 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19273987 19273988 rs774169886 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273992 19273993 rs529920459 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19273995 19273996 rs570625533 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19273997 19274009 rs560487952 0 + CAAAGCTACAGC CAAAGCTACAGC -/CAAAGCTACAGC genomic deletion by-frequency,by-1000genomes 0.015454 0.086534 unknown range 1 1 1000GENOMES, 2 -,CAAAGCTACAGC, 39.000000,4969.000000, 0.007788,0.992212, 732 chr21 19274008 19274009 rs548047050 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 732 chr21 19274031 19274032 rs553593080 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 732 chr21 19274036 19274037 rs774976383 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274041 19274042 rs539204307 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19274065 19274066 rs760103596 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274068 19274069 rs763741424 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274078 19274079 rs780820174 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19274113 19274114 rs142039112 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19274166 19274167 rs146012252 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19274168 19274169 rs552051530 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19274182 19274183 rs138658280 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19274186 19274187 rs765678226 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274212 19274213 rs537836851 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19274287 19274288 rs556648308 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19274303 19274304 rs553181797 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19274321 19274322 rs750877899 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274335 19274336 rs574812947 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19274345 19274346 rs758973209 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274417 19274418 rs188868129 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19274464 19274465 rs146649597 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 BL,ILLUMINA,WEILL_CORNELL_DGM, 0 732 chr21 19274465 19274466 rs68073266 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 GMI,HAMMER_LAB, 0 732 chr21 19274465 19274466 rs201253719 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 732 chr21 19274465 19274467 rs796249208 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 MixedObserved 2 BUSHMAN,HAMMER_LAB, 0 732 chr21 19274465 19274465 rs71189566 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 4 BILGI_BIOE,GMI,HUMANGENOME_JCVI,PJP, 1 T, 2.000000, 1.000000, 732 chr21 19274471 19274472 rs573598351 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 732 chr21 19274476 19274477 rs13046198 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,GMI,SSAHASNP, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19274477 19274478 rs13048947 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 GMI,SSAHASNP, 0 732 chr21 19274501 19274506 rs749409840 0 + TTTTT TTTTT -/TTTTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274502 19274506 rs771887072 0 + TTTT TTTT -/TTTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274504 19274505 rs77336771 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 BCM-HGSC-SUB,ENSEMBL, 1 G, 2.000000, 1.000000, 732 chr21 19274505 19274506 rs1963137 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.447162 0.153712 unknown exact 1 11 1000GENOMES,ABI,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 1690.000000,3318.000000, 0.337460,0.662540, maf-5-some-pop,maf-5-all-pops 732 chr21 19274505 19274505 rs35586621 0 + - - -/G genomic insertion by-cluster,by-1000genomes 0.5 0 unknown between 1 11 1000GENOMES,ABI,BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19274506 19274506 rs147094343 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 732 chr21 19274525 19274531 rs548796926 0 + CTCTGT CTCTGT -/CTCTGT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,CTCTGT, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19274530 19274531 rs373822441 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19274532 19274533 rs564752811 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19274545 19274546 rs193106943 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,TISHKOFF, 0 732 chr21 19274553 19274554 rs555221938 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19274556 19274557 rs184395705 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009943 0.069902 unknown exact 1 SingleClassTriAllelic 4 1000GENOMES,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,G,T, 6.000000,4983.000000,19.000000, 0.001198,0.995008,0.003794, 732 chr21 19274586 19274587 rs562618492 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19274616 19274617 rs113447648 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 732 chr21 19274648 19274649 rs372320006 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 3 1000GENOMES,SSMP,TISHKOFF, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 732 chr21 19274654 19274655 rs377115496 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,SSMP,TISHKOFF, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 732 chr21 19274658 19274659 rs867889608 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19274714 19274715 rs559963956 0 + A A A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19274717 19274718 rs868755051 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19274734 19274735 rs527475897 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19274744 19274745 rs552089925 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19274767 19274768 rs201539050 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 732 chr21 19274771 19274772 rs542143918 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19274781 19274782 rs570393792 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19274787 19274788 rs150788898 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4866.000000,142.000000, 0.971645,0.028355, maf-5-some-pop 732 chr21 19274844 19274845 rs201206508 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown exact 1 MixedObserved 2 1000GENOMES,EVA_DECODE, 2 -,G, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 732 chr21 19274844 19274852 rs386816714 0 + GTAACCAA GTAACCAA GTAACCAA/T genomic in-del by-cluster 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19274846 19274852 rs202069573 0 + AACCAA AACCAA -/AACCAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 unknown range 1 2 1000GENOMES,EVA_DECODE, 2 -,AACCAA, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 732 chr21 19274851 19274852 rs542197635 0 + A A A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,ILLUMINA,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19274899 19274900 rs755036107 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274916 19274916 rs746982658 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19274928 19274929 rs568541624 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19274941 19274942 rs188992916 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19274950 19274951 rs772393272 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19274994 19274995 rs554295663 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275001 19275002 rs867652857 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19275024 19275025 rs572711693 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275026 19275027 rs555045023 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19275046 19275047 rs192296532 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19275056 19275057 rs368782444 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19275101 19275102 rs184139215 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275108 19275109 rs781438474 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275136 19275137 rs576625917 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275137 19275138 rs748289301 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275147 19275149 rs372999121 0 + CA CA -/CA genomic deletion by-cluster 0 0 unknown range 1 2 SSIP,SSMP, 0 732 chr21 19275166 19275167 rs544205604 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19275172 19275173 rs9974631 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.034141 0.126114 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4921.000000,87.000000, 0.982628,0.017372, maf-5-some-pop 732 chr21 19275198 19275199 rs116787012 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19275222 19275225 rs776625292 0 + GTT GTT -/GTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275230 19275231 rs113702992 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19275239 19275240 rs541566446 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275240 19275241 rs559802456 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19275432 19275432 rs762500113 0 + - - -/AAAA genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 732 chr21 19275433 19275434 rs1573439 0 + T T A/C/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 GMI,ILLUMINA,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 0.000000,184.000000, 0.000000,1.000000, 732 chr21 19275434 19275434 rs747925833 0 + - - -/C genomic insertion by-cluster 0 0 unknown between 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 0 732 chr21 19275441 19275442 rs527512987 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19275463 19275464 rs73319575 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 29.000000,4979.000000, 0.005791,0.994209, 732 chr21 19275474 19275475 rs78589794 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.161596 0.233848 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 444.000000,4564.000000, 0.088658,0.911342, maf-5-some-pop 732 chr21 19275493 19275494 rs1573440 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.49614 0.04376 unknown exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2284.000000,2724.000000, 0.456070,0.543930, maf-5-some-pop,maf-5-all-pops 732 chr21 19275512 19275513 rs550043796 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19275605 19275606 rs28545669 0 + T T C/T genomic single by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 2 1000GENOMES,SSAHASNP, 2 C,T, 50.000000,4958.000000, 0.009984,0.990016, 732 chr21 19275693 19275694 rs529270233 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19275696 19275697 rs189791247 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19275730 19275731 rs566148813 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275736 19275737 rs180698978 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275751 19275752 rs764616242 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19275764 19275765 rs775416346 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275770 19275771 rs866339398 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19275798 19275799 rs760178172 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275824 19275825 rs768079261 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275839 19275839 rs36059451 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19275847 19275848 rs776242644 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275865 19275866 rs1573441 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.015061 0.08546 unknown exact 1 4 1000GENOMES,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19275867 19275868 rs570333022 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19275872 19275873 rs537390654 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19275889 19275890 rs761361845 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19275907 19275908 rs186000428 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19275938 19275939 rs574384110 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19275943 19275944 rs190504872 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19275944 19275945 rs376069960 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19275961 19275962 rs553474752 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19275970 19275971 rs571776277 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19276022 19276023 rs763428181 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276030 19276031 rs2824538 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.404035 0.196909 unknown exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3601.000000,1407.000000, 0.719050,0.280950, maf-5-some-pop 732 chr21 19276036 19276037 rs564169598 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276049 19276050 rs371500574 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19276058 19276059 rs531520855 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19276074 19276075 rs56717372 0 + G G C/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,GMI,HGSV, 2 C,G, 20.000000,4988.000000, 0.003994,0.996006, 732 chr21 19276076 19276077 rs755551281 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276111 19276112 rs181946754 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276122 19276123 rs546311333 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19276137 19276138 rs75277363 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 unknown exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 732 chr21 19276201 19276202 rs116995198 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB, 2 A,G, 4910.000000,98.000000, 0.980431,0.019569, maf-5-some-pop 732 chr21 19276210 19276211 rs756323697 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276212 19276213 rs541689264 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19276234 19276235 rs777975464 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276247 19276248 rs745601557 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276252 19276253 rs73319576 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.154661 0.231107 unknown exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4585.000000,423.000000, 0.915535,0.084465, maf-5-some-pop 732 chr21 19276282 19276283 rs533419401 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19276306 19276307 rs559936754 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276323 19276324 rs746887247 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276346 19276347 rs186374548 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19276363 19276364 rs570195758 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276365 19276366 rs9977617 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.294832 0.245947 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4108.000000,900.000000, 0.820288,0.179712, maf-5-some-pop 732 chr21 19276387 19276388 rs77236474 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19276401 19276402 rs776003892 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276407 19276408 rs866235589 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19276409 19276410 rs548891599 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276420 19276421 rs567922486 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276442 19276443 rs535098872 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276461 19276462 rs747959819 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19276504 19276505 rs553315144 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276557 19276558 rs139043938 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19276619 19276620 rs562263783 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19276629 19276630 rs773021560 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276656 19276657 rs9980787 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.29432 0.24604 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 898.000000,4110.000000, 0.179313,0.820687, maf-5-some-pop 732 chr21 19276677 19276678 rs766820662 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276743 19276744 rs190426370 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19276786 19276787 rs752005922 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276793 19276794 rs543573760 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276817 19276818 rs114011476 0 + A A A/G genomic single by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 1 1000GENOMES, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 732 chr21 19276849 19276850 rs2824539 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.009934 0.069774 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,PERLEGEN, 2 A,T, 25.000000,4983.000000, 0.004992,0.995008, maf-5-some-pop 732 chr21 19276870 19276871 rs541440519 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19276878 19276879 rs868678916 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19276896 19276897 rs759945979 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19276901 19276902 rs186534656 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19276920 19276921 rs75112975 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.289424 0.246872 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,T, 879.000000,4129.000000, 0.175519,0.824481, maf-5-some-pop 732 chr21 19276935 19276936 rs79595271 0 + C C C/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19276956 19276957 rs551619129 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19276964 19276965 rs375593313 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19277004 19277005 rs752652931 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277025 19277026 rs531034951 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19277054 19277055 rs770530283 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19277106 19277107 rs775854973 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19277136 19277137 rs191191012 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19277195 19277196 rs567631513 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19277200 19277201 rs73319583 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 732 chr21 19277213 19277218 rs72105008 0 + TCCTC TCCTC -/TCCTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown range 1 2 1000GENOMES,LUNTER, 2 -,TCCTC, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19277217 19277222 rs57602175 0 + CTCCT CTCCT -/CTCCT genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 732 chr21 19277240 19277241 rs754086041 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277258 19277259 rs546876461 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19277261 19277261 rs769117787 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277265 19277265 rs34092217 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19277317 19277318 rs565368434 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19277351 19277354 rs147597482 0 + TTC TTC -/TTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 unknown range 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,TTC, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 732 chr21 19277358 19277361 rs371032372 0 + TCT TCT -/TCT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 732 chr21 19277360 19277361 rs539587276 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19277376 19277377 rs539023477 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19277378 19277379 rs546464818 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19277390 19277391 rs779688947 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277426 19277427 rs200919665 0 - G G A/C genomic single by-cluster 0 0 unknown exact 1 1 ILLUMINA, 0 732 chr21 19277434 19277435 rs373439793 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19277449 19277450 rs370337114 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19277453 19277454 rs576052044 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19277464 19277465 rs149865755 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19277493 19277494 rs555491295 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19277515 19277516 rs746892264 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277536 19277537 rs754808271 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277550 19277551 rs573877912 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19277554 19277555 rs541379202 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19277567 19277568 rs781206744 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277589 19277590 rs373725733 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 732 chr21 19277597 19277598 rs559671966 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19277627 19277628 rs143870472 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 29.000000,4979.000000, 0.005791,0.994209, 732 chr21 19277646 19277647 rs762296452 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19277688 19277689 rs118052078 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19277689 19277690 rs538400785 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19277704 19277705 rs772889917 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277718 19277719 rs140441294 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19277726 19277727 rs748928032 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277729 19277730 rs57248635 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.056231 0.157967 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4863.000000,145.000000, 0.971046,0.028954, maf-5-some-pop 732 chr21 19277734 19277735 rs61522710 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.163892 0.234703 unknown exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 451.000000,4557.000000, 0.090056,0.909944, maf-5-some-pop 732 chr21 19277745 19277746 rs750719417 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19277747 19277748 rs759949094 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277775 19277776 rs561184123 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19277793 19277794 rs528644574 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19277803 19277804 rs546915057 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19277804 19277805 rs368255266 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19277819 19277820 rs776083313 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19277874 19277875 rs571579012 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19277883 19277884 rs182641466 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19277899 19277900 rs144287578 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19277902 19277903 rs796281335 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 732 chr21 19277903 19277904 rs796878321 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 DuplicateObserved 1 HAMMER_LAB, 0 732 chr21 19277903 19277903 rs758320798 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 DuplicateObserved 4 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 732 chr21 19277904 19277904 rs34857646 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.431176 0.172266 unknown between 1 4 1000GENOMES,GMI,HUMANGENOME_JCVI,PJP, 2 -,A, 3093.000000,1419.000000, 0.685505,0.314495, maf-5-some-pop 732 chr21 19277913 19277914 rs58861086 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.238202 0.249721 unknown exact 1 4 1000GENOMES,HGSV,PJP,TISHKOFF, 2 -,A, 496.000000,3093.000000, 0.138200,0.861800, maf-5-some-pop 732 chr21 19277914 19277914 rs397783579 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 2 ABI,HGSV, 0 732 chr21 19277923 19277924 rs551315352 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19277950 19277951 rs569653299 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19277953 19277954 rs868071809 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19277954 19277955 rs373293369 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 732 chr21 19277955 19277956 rs374841254 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 732 chr21 19277956 19277956 rs35322687 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.471292 0.116318 unknown between 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,T, 3104.000000,1904.000000, 0.619808,0.380192, maf-5-some-pop,maf-5-all-pops 732 chr21 19277964 19277964 rs72550485 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 BGI, 0 732 chr21 19277965 19277965 rs397817254 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 2 ABI,HGSV, 0 732 chr21 19277966 19277967 rs537197196 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19277966 19277966 rs869075119 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 DEVINE_LAB, 0 732 chr21 19277967 19277968 rs555492401 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19277970 19277971 rs573917150 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19278017 19278018 rs762940014 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19278047 19278048 rs534789251 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19278078 19278079 rs535315697 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19278132 19278133 rs553326779 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278139 19278140 rs577975515 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278166 19278167 rs545085048 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278170 19278171 rs563655620 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19278173 19278174 rs575549479 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278190 19278191 rs147936991 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP, 2 C,G, 4976.000000,32.000000, 0.993610,0.006390, 732 chr21 19278209 19278210 rs764125021 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19278254 19278259 rs753109878 0 + CTGAG CTGAG -/CTGAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19278293 19278294 rs561021945 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278310 19278311 rs528680594 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278314 19278315 rs540392453 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278327 19278328 rs141724454 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19278364 19278365 rs532793108 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19278374 19278375 rs550987940 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278376 19278377 rs569674040 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278382 19278383 rs555601681 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19278406 19278406 rs34579027 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19278408 19278409 rs569841054 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 ILLUMINA, 0 732 chr21 19278415 19278416 rs753964688 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19278442 19278443 rs370599061 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 PADH-LAB_SPU,SSMP, 0 732 chr21 19278451 19278452 rs142984968 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19278471 19278472 rs187644344 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19278478 19278479 rs189965119 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19278501 19278502 rs537795337 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19278515 19278516 rs151106123 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4983.000000,25.000000, 0.995008,0.004992, 732 chr21 19278532 19278533 rs183319989 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278577 19278578 rs571456507 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278585 19278586 rs140938559 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278599 19278600 rs150205538 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19278604 19278605 rs12482568 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap 0.444444 0.157135 unknown exact 1 2 CSHL-HAPMAP,ENSEMBL, 2 C,T, 4.000000,2.000000, 0.666667,0.333333, 732 chr21 19278613 19278614 rs2824540 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498832 0.024133 unknown exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2625.000000,2383.000000, 0.524161,0.475839, maf-5-some-pop,maf-5-all-pops 732 chr21 19278641 19278642 rs138808384 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,C, 4975.000000,33.000000, 0.993411,0.006589, 732 chr21 19278643 19278644 rs188054933 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278652 19278653 rs140629385 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278653 19278654 rs540429452 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278670 19278671 rs192145419 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278688 19278689 rs532587320 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278694 19278695 rs117168659 0 + A A A/G genomic single by-1000genomes 0.016528 0.089391 unknown exact 1 1 1000GENOMES, 2 A,G, 119.000000,1.000000, 0.991667,0.008333, 732 chr21 19278697 19278698 rs796208920 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 732 chr21 19278711 19278712 rs7276010 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.054348 0.155628 unknown exact 1 5 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 140.000000,4868.000000, 0.027955,0.972045, maf-5-some-pop 732 chr21 19278729 19278730 rs7280733 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.161267 0.233723 unknown exact 1 16 1000GENOMES,BCM_SSAHASNP,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4565.000000,443.000000, 0.911542,0.088459, maf-5-some-pop 732 chr21 19278741 19278742 rs530542669 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19278767 19278768 rs777410704 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19278781 19278782 rs573354758 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19278796 19278797 rs548970191 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278820 19278821 rs567371208 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278827 19278828 rs748872617 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19278834 19278835 rs528150100 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19278846 19278846 rs201650600 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 732 chr21 19278849 19278855 rs200162474 0 + AAAAAG AAAAAG -/AAAAAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.057359 0.15934 unknown range 1 3 1000GENOMES,EVA-GONL,LUNTER, 2 -,AAAAAG, 148.000000,4860.000000, 0.029553,0.970447, maf-5-some-pop 732 chr21 19278854 19278860 rs533528503 0 + GAAAAA GAAAAA -/GAAAAA genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 732 chr21 19278861 19278862 rs546705767 0 + A A A/G genomic single by-frequency,by-1000genomes 0.057359 0.15934 unknown exact 1 1 1000GENOMES, 2 A,G, 4860.000000,148.000000, 0.970447,0.029553, maf-5-some-pop 732 chr21 19278862 19278863 rs59296805 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.057359 0.15934 unknown exact 1 3 1000GENOMES,HGSV,WEILL_CORNELL_DGM, 2 A,T, 4860.000000,148.000000, 0.970447,0.029553, maf-5-some-pop 732 chr21 19278865 19278866 rs548070896 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 DuplicateObserved 1 1000GENOMES, 2 -,A, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19278865 19278865 rs749034704 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 EVA_DECODE, 0 732 chr21 19278872 19278873 rs78913703 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19278873 19278874 rs77383268 0 + T T A/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19278878 19278879 rs374622628 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19278883 19278884 rs770421454 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19278901 19278902 rs145680110 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 55.000000,4953.000000, 0.010982,0.989018, 732 chr21 19278922 19278923 rs774066402 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19278933 19278934 rs569030356 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19278934 19278935 rs756688285 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 732 chr21 19278971 19278972 rs376527716 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19278987 19278988 rs71319664 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 unknown exact 1 12 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4893.000000,115.000000, 0.977037,0.022963, 732 chr21 19279005 19279006 rs572893699 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19279016 19279017 rs534074520 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19279026 19279027 rs745389110 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19279040 19279040 rs201017089 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 3 1000GENOMES,EVA-GONL,EVA_GENOME_DK, 0 732 chr21 19279047 19279048 rs866345836 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19279051 19279052 rs558760214 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19279052 19279053 rs9981903 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 unknown exact 1 MixedObserved 4 1000GENOMES,HGSV,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 732 chr21 19279052 19279053 rs539794083 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 33.000000,4975.000000, 0.006589,0.993411, 732 chr21 19279053 19279054 rs9981904 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.054725 0.156101 unknown exact 1 4 1000GENOMES,HGSV,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 141.000000,4867.000000, 0.028155,0.971845, maf-5-some-pop 732 chr21 19279057 19279058 rs188111076 0 + T T G/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 G,T, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19279103 19279104 rs775868342 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279108 19279108 rs760996982 0 + - - -/GTTATATAAC genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279117 19279118 rs769242498 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19279149 19279150 rs574984465 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19279180 19279181 rs192740454 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279203 19279204 rs560904205 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279207 19279208 rs528086855 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19279224 19279225 rs373829973 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19279232 19279233 rs546754340 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19279240 19279241 rs9653672 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.033755 0.125452 unknown exact 1 13 1000GENOMES,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4922.000000,86.000000, 0.982827,0.017173, maf-5-some-pop 732 chr21 19279253 19279253 rs535535235 0 + - - -/A/AAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.136166 0.22258 unknown between 1 InconsistentAlleles 2 1000GENOMES,EVA_GENOME_DK, 2 -,AAA, 4640.000000,368.000000, 0.926518,0.073482, maf-5-some-pop 732 chr21 19279264 19279265 rs532360719 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.113685 0.209567 unknown exact 1 MixedObserved 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 303.000000,4705.000000, 0.060503,0.939497, maf-5-some-pop 732 chr21 19279264 19279265 rs766570085 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279267 19279268 rs114794279 0 + T T A/T genomic single by-frequency,by-1000genomes 0.033324 0.124705 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,116.000000, 0.016949,0.983051, 732 chr21 19279285 19279286 rs550457476 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279292 19279293 rs78237927 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19279335 19279336 rs536187685 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279360 19279361 rs184350795 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19279361 19279362 rs776628258 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279378 19279379 rs761898307 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279388 19279389 rs28613463 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 732 chr21 19279404 19279405 rs189077454 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19279404 19279404 rs576395930 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 SSIP, 0 732 chr21 19279406 19279407 rs180964148 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19279413 19279414 rs78272551 0 + T T G/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19279414 19279415 rs79820290 0 + G G G/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19279435 19279436 rs2142323 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 ABI,TSC-CSHL, 0 732 chr21 19279463 19279464 rs559024840 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19279465 19279466 rs868868812 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19279477 19279477 rs36123243 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19279509 19279510 rs577237334 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19279542 19279543 rs750692924 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279569 19279569 rs35703829 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19279598 19279599 rs538435448 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19279604 19279605 rs748514674 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19279605 19279606 rs556439015 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279618 19279619 rs184658801 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19279637 19279640 rs564176221 0 + CTT CTT -/CTT genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 732 chr21 19279687 19279688 rs763124525 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279735 19279736 rs542589725 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279737 19279738 rs7281218 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,BCM_SSAHASNP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19279765 19279766 rs149286991 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279789 19279790 rs144610767 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19279794 19279795 rs58431553 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.056231 0.157967 unknown exact 1 5 1000GENOMES,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4863.000000,145.000000, 0.971046,0.028954, maf-5-some-pop 732 chr21 19279860 19279861 rs532071337 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19279868 19279869 rs550642017 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279904 19279905 rs767321906 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279909 19279909 rs66924957 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.289424 0.246872 unknown between 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,A, 4129.000000,879.000000, 0.824481,0.175519, maf-5-some-pop 732 chr21 19279916 19279917 rs562589435 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19279946 19279947 rs529818394 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19279947 19279948 rs752599197 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19279986 19279987 rs548112095 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19279994 19279995 rs773278012 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19280008 19280009 rs369325552 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19280024 19280025 rs375016913 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19280028 19280029 rs7277293 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.293807 0.246132 unknown exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 896.000000,4112.000000, 0.178914,0.821086, maf-5-some-pop 732 chr21 19280045 19280046 rs566867492 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19280055 19280056 rs62215922 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 unknown exact 1 11 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 79.000000,4929.000000, 0.015775,0.984225, 732 chr21 19280072 19280073 rs377238034 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19280089 19280090 rs548908664 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19280105 19280106 rs774450152 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19280117 19280118 rs570932079 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19280121 19280122 rs759617492 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19280135 19280136 rs370017895 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19280152 19280153 rs868094993 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19280153 19280154 rs556614789 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19280156 19280157 rs371563780 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19280160 19280161 rs181371837 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19280176 19280177 rs8132058 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.289165 0.246913 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 878.000000,4130.000000, 0.175319,0.824681, maf-5-some-pop 732 chr21 19280184 19280185 rs8127697 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.293037 0.246268 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 893.000000,4115.000000, 0.178315,0.821685, maf-5-some-pop 732 chr21 19280192 19280193 rs9984580 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4923.000000,85.000000, 0.983027,0.016973, 732 chr21 19280193 19280194 rs540234371 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19280206 19280207 rs147370238 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19280223 19280224 rs771668389 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19280230 19280231 rs140095024 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 732 chr21 19280233 19280234 rs544003890 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19280241 19280245 rs553601603 0 + AAAG AAAG -/AAAG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,AAAG, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19280248 19280249 rs562229635 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19280309 19280310 rs186792323 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19280332 19280333 rs780381001 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19280343 19280344 rs8132868 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.289942 0.246789 unknown exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 4127.000000,881.000000, 0.824081,0.175919, maf-5-some-pop 732 chr21 19280365 19280366 rs11700884 0 + T T G/T genomic single by-cluster,by-hapmap 0 0 unknown exact 1 2 ABI,CSHL-HAPMAP, 0 732 chr21 19280373 19280374 rs113891471 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.057858 0.159942 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4848.000000,149.000000, 0.970182,0.029818, maf-5-some-pop 732 chr21 19280374 19280374 rs200590826 0 + - - -/TTAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.004517 0.047311 unknown between 1 1 1000GENOMES, 2 -,TTAT, 4848.000000,11.000000, 0.997736,0.002264, 732 chr21 19280384 19280385 rs56016330 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.450398 0.149468 unknown exact 1 MixedObserved 15 1000GENOMES,BCM-HGSC-SUB,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,PJP,WEILL_CORNELL_DGM, 2 A,T, 2816.000000,1467.000000, 0.657483,0.342517, maf-5-some-pop 732 chr21 19280384 19280385 rs112952163 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.057734 0.159793 unknown exact 1 MixedObserved 2 1000GENOMES,BUSHMAN, 2 -,A, 149.000000,4859.000000, 0.029752,0.970248, maf-5-some-pop 732 chr21 19280385 19280385 rs147828256 0 + - - -/TTT/TTTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.325994 0.239034 unknown between 1 3 1000GENOMES,LUNTER,SSMP, 3 -,TTT,TTTT, 2816.000000,722.000000,3.000000, 0.795256,0.203897,0.000847, 732 chr21 19280411 19280412 rs753407263 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19280412 19280415 rs772438863 0 + TTA TTA -/TTA genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 732 chr21 19280469 19280470 rs8128143 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.289942 0.246789 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 881.000000,4127.000000, 0.175919,0.824081, maf-5-some-pop 732 chr21 19280546 19280547 rs570802640 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19280552 19280552 rs550237298 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.01781 0.09267 unknown between 1 1 1000GENOMES, 2 -,C, 4963.000000,45.000000, 0.991014,0.008986, 732 chr21 19280554 19280555 rs531705893 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19280556 19280557 rs181348138 0 + C C A/C genomic single by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 1 1000GENOMES, 2 A,C, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19280557 19280558 rs186709147 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19280558 19280559 rs113658709 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19280563 19280564 rs145349323 0 + C C C/T genomic single by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 1 1000GENOMES, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19280577 19280578 rs11700933 0 + T T G/T genomic single by-cluster,by-hapmap 0 0 unknown exact 1 2 CSHL-HAPMAP,EVA_DECODE, 0 732 chr21 19280582 19280583 rs182482112 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 1 1000GENOMES, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 732 chr21 19280604 19280605 rs778457030 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19280610 19280611 rs539792455 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19280615 19280616 rs866756204 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19280619 19280620 rs149229569 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4865.000000,143.000000, 0.971446,0.028554, maf-5-some-pop 732 chr21 19280628 19280629 rs8131739 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.284471 0.247612 unknown exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 860.000000,4148.000000, 0.171725,0.828275, maf-5-some-pop 732 chr21 19280653 19280654 rs544160680 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19280670 19280670 rs59259523 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 732 chr21 19280706 19280707 rs373212230 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19280732 19280733 rs555860829 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19280742 19280743 rs574147609 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19280768 19280768 rs36027208 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19280775 19280776 rs11911846 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.277334 0.248501 unknown exact 1 6 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,SSMP,WEILL_CORNELL_DGM, 2 A,G, 833.000000,4175.000000, 0.166334,0.833666, maf-5-some-pop 732 chr21 19280794 19280795 rs559953865 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19280804 19280805 rs11911850 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.283684 0.24772 unknown exact 1 7 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 2 A,G, 857.000000,4151.000000, 0.171126,0.828874, maf-5-some-pop 732 chr21 19280869 19280870 rs373656038 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19280871 19280872 rs375708188 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19280876 19280877 rs140474903 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 732 chr21 19280877 19280878 rs145701196 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.054725 0.156101 unknown exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 141.000000,4867.000000, 0.028155,0.971845, maf-5-some-pop 732 chr21 19280880 19280881 rs9976789 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 unknown exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 C,T, 63.000000,4945.000000, 0.012580,0.987420, 732 chr21 19280888 19280889 rs568579443 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19280896 19280897 rs868863748 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19280925 19280926 rs529450614 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19280958 19280959 rs191083809 0 + G G C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19280996 19280997 rs183542784 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19280998 19280999 rs540009229 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19281004 19281005 rs551803671 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19281070 19281071 rs570301021 0 + G G C/G genomic single by-frequency,by-1000genomes 0.050191 0.150254 unknown exact 1 1 1000GENOMES, 2 C,G, 129.000000,4879.000000, 0.025759,0.974241, maf-5-some-pop 732 chr21 19281072 19281073 rs11908777 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.282369 0.247896 unknown exact 1 5 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,WEILL_CORNELL_DGM, 2 C,T, 4156.000000,852.000000, 0.829872,0.170128, maf-5-some-pop 732 chr21 19281090 19281091 rs11909607 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.278399 0.248382 unknown exact 1 5 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,WEILL_CORNELL_DGM, 2 G,T, 837.000000,4171.000000, 0.167133,0.832867, maf-5-some-pop 732 chr21 19281174 19281175 rs754717633 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 732 chr21 19281189 19281190 rs574084017 0 + T T C/T genomic single by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 1 1000GENOMES, 2 C,T, 47.000000,4961.000000, 0.009385,0.990615, 732 chr21 19281193 19281194 rs535217757 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19281215 19281216 rs553427769 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19281223 19281224 rs572178844 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19281262 19281263 rs545947111 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19281306 19281307 rs370614160 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19281319 19281320 rs564228785 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19281334 19281335 rs188472894 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 135.000000,4873.000000, 0.026957,0.973043, maf-5-some-pop 732 chr21 19281384 19281385 rs555586160 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_GENOME_DK, 0 732 chr21 19281406 19281407 rs543732690 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19281483 19281484 rs562113661 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19281484 19281485 rs529284172 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19281485 19281486 rs547947622 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19281487 19281488 rs559763383 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19281522 19281523 rs533384168 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19281540 19281541 rs551904087 0 + T T G/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 G,T, 25.000000,4983.000000, 0.004992,0.995008, 732 chr21 19281549 19281550 rs570261166 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19281695 19281696 rs537388828 0 + G G G/T genomic single by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 1 1000GENOMES, 2 G,T, 4942.000000,66.000000, 0.986821,0.013179, 732 chr21 19281777 19281777 rs748250610 0 + - - -/TTTGG genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 732 chr21 19281778 19281779 rs57758022 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,HGSV, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19281780 19281781 rs61102551 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 MixedObserved 2 1000GENOMES,HGSV, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19281780 19281780 rs535469689 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.005972 0.054319 unknown between 1 MixedObserved 1 1000GENOMES, 2 -,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19281783 19281783 rs565837688 0 + - - -/CCAG genomic insertion by-frequency,by-1000genomes 0.005972 0.054319 unknown between 1 1 1000GENOMES, 2 -,CCAG, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19281836 19281837 rs535065315 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19281892 19281893 rs57598802 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 732 chr21 19281898 19281899 rs553464429 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 unknown exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 A,G, 4945.000000,63.000000, 0.987420,0.012580, 732 chr21 19282031 19282032 rs555862669 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.286042 0.247388 unknown exact 1 4 1000GENOMES,CSHL-HAPMAP,HGSV,WEILL_CORNELL_DGM, 2 A,G, 866.000000,4142.000000, 0.172923,0.827077, maf-5-some-pop 732 chr21 19282094 19282095 rs373964372 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19282119 19282120 rs201833142 0 + C C C/T genomic single by-frequency,by-1000genomes 0.047535 0.146656 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 4886.000000,122.000000, 0.975639,0.024361, maf-5-some-pop 732 chr21 19282138 19282139 rs56100088 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 732 chr21 19282161 19282162 rs557975116 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19282169 19282170 rs368176795 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.195526 0.243993 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4458.000000,550.000000, 0.890176,0.109824, maf-5-some-pop 732 chr21 19282180 19282181 rs371920645 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19282232 19282233 rs138024978 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 C,T, 115.000000,4893.000000, 0.022963,0.977037, maf-5-some-pop 732 chr21 19282261 19282262 rs193180637 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19282306 19282307 rs574099600 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19282309 19282310 rs541409988 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19282342 19282343 rs375786022 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19282377 19282378 rs867913219 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19282490 19282491 rs184679210 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19282500 19282501 rs188414971 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19282501 19282502 rs191259671 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19282529 19282530 rs764102818 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19282549 19282551 rs371467106 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown range 1 2 1000GENOMES,SSMP, 2 -,CT, 11.000000,4997.000000, 0.002196,0.997804, 732 chr21 19282568 19282569 rs6517793 0 + T T C/T genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 unknown exact 1 SingleAlleleFreq 15 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 1 C, 2.000000, 1.000000, 732 chr21 19282578 19282579 rs375707670 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,GMI, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19282581 19282582 rs549299698 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19282582 19282583 rs189168401 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4979.000000,29.000000, 0.994209,0.005791, 732 chr21 19282611 19282612 rs181915136 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19282612 19282613 rs547331200 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19282616 19282617 rs565534157 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19282643 19282644 rs149543077 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 732 chr21 19282762 19282763 rs540277806 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 732 chr21 19282778 19282779 rs557548187 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19282840 19282841 rs560587898 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19282849 19282853 rs753708145 0 + AATT AATT -/AATT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19282908 19282909 rs569867722 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19282933 19282934 rs2824541 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.289942 0.246789 unknown exact 1 19 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4127.000000,881.000000, 0.824081,0.175919, maf-5-some-pop 732 chr21 19282940 19282941 rs766776500 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19282952 19282953 rs185164803 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19282964 19282965 rs549191137 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19282987 19282988 rs573936566 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283003 19283004 rs376365855 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19283009 19283010 rs369016958 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19283028 19283029 rs7282432 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.054725 0.156101 unknown exact 1 15 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 141.000000,4867.000000, 0.028155,0.971845, maf-5-some-pop 732 chr21 19283029 19283030 rs189929740 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19283088 19283089 rs113886388 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19283105 19283105 rs35547981 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19283128 19283129 rs373226672 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 3 HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19283137 19283138 rs562073061 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 4968.000000,40.000000, 0.992013,0.007987, 732 chr21 19283138 19283139 rs575797517 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 41.000000,4967.000000, 0.008187,0.991813, 732 chr21 19283167 19283168 rs35126150 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.412082 0.190341 unknown exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3554.000000,1454.000000, 0.709665,0.290335, maf-5-some-pop 732 chr21 19283191 19283192 rs571580512 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19283225 19283226 rs375246509 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19283234 19283235 rs146091716 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,SSMP,TISHKOFF, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19283252 19283253 rs528803150 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19283296 19283297 rs77246449 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.053593 0.154675 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4870.000000,138.000000, 0.972444,0.027556, maf-5-some-pop 732 chr21 19283325 19283326 rs565699547 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283366 19283367 rs2824542 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.251296 0.249997 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4270.000000,738.000000, 0.852636,0.147364, maf-5-some-pop 732 chr21 19283376 19283377 rs544740225 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 732 chr21 19283399 19283400 rs749955618 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19283407 19283408 rs138678948 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 732 chr21 19283420 19283421 rs553489972 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19283421 19283422 rs569739982 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283425 19283426 rs537246542 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19283427 19283428 rs779697506 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19283429 19283430 rs555559306 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283430 19283431 rs567459199 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19283436 19283437 rs534962522 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19283437 19283438 rs112440681 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02175 0.102186 unknown exact 1 SingleClassTriAllelic 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,G, 4953.000000,7.000000,48.000000, 0.989018,0.001398,0.009585, 732 chr21 19283444 19283445 rs535999937 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283445 19283446 rs557448076 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19283448 19283449 rs575285379 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19283450 19283451 rs142677312 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19283451 19283452 rs190259604 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19283453 19283454 rs111800812 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.049812 0.149749 unknown exact 1 10 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 G,T, 128.000000,4880.000000, 0.025559,0.974441, maf-5-some-pop 732 chr21 19283456 19283457 rs540957961 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283459 19283460 rs761514998 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19283461 19283462 rs202029257 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19283466 19283467 rs532966012 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19283470 19283471 rs148442067 0 + C C C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 1 1000GENOMES, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19283481 19283482 rs563382515 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19283511 19283512 rs7277659 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.282369 0.247896 unknown exact 1 15 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 852.000000,4156.000000, 0.170128,0.829872, maf-5-some-pop 732 chr21 19283512 19283513 rs180709313 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4975.000000,33.000000, 0.993411,0.006589, 732 chr21 19283514 19283515 rs377566338 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19283516 19283517 rs567496477 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19283517 19283518 rs578189716 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19283522 19283523 rs534500020 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283526 19283527 rs370204259 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19283528 19283529 rs185385896 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19283531 19283532 rs571419774 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19283546 19283547 rs7278878 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 2 1000GENOMES,BCM_SSAHASNP, 2 C,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19283549 19283550 rs373155951 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19283570 19283571 rs867776453 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19283580 19283581 rs556978828 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19283581 19283582 rs111401584 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 197.000000,4811.000000, 0.039337,0.960663, maf-5-some-pop 732 chr21 19283585 19283586 rs536377135 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19283608 19283609 rs190927883 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19283610 19283611 rs573117272 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19283616 19283617 rs183791894 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19283617 19283618 rs187606268 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19283620 19283621 rs577426302 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283632 19283633 rs571904757 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19283633 19283634 rs375714143 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19283640 19283641 rs544878813 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19283641 19283642 rs368745318 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 5 1000GENOMES,HAMMER_LAB,SSIP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19283643 19283644 rs540621425 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_GENOME_DK, 0 732 chr21 19283648 19283649 rs143924665 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 732 chr21 19283654 19283657 rs778725055 0 + AAA AAA -/AAA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19283654 19283655 rs779617973 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 EVA_GENOME_DK, 0 732 chr21 19283655 19283657 rs760200848 0 + AA AA -/AA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19283688 19283688 rs750170759 0 + - - -/TGGG genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 732 chr21 19283690 19283691 rs549133692 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19283692 19283693 rs7279063 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.252983 0.249982 unknown exact 1 10 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4264.000000,744.000000, 0.851438,0.148562, maf-5-some-pop 732 chr21 19283708 19283709 rs528308378 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19283714 19283714 rs5842667 0 + - - -/C genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 SingleAlleleFreq 16 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 1 C, 4.000000, 1.000000, 732 chr21 19283718 19283718 rs397773780 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 BGI, 0 732 chr21 19283719 19283719 rs397823380 0 + - - -/A/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown between 1 InconsistentAlleles 3 1000GENOMES,ABI,HGSV, 2 -,A, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19283720 19283720 rs869305058 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 DEVINE_LAB, 0 732 chr21 19283721 19283722 rs112549823 0 + C C A/C genomic single unknown 0.5 0 unknown exact 1 2 BUSHMAN,GMI, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19283775 19283776 rs117212983 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19283796 19283797 rs775872000 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 732 chr21 19283804 19283808 rs372879022 0 + AGAC AGAC -/AGAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AGAC, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19283827 19283828 rs571525378 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19283842 19283843 rs538605187 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19283845 19283846 rs146866193 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19283869 19283870 rs2824543 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.252702 0.249985 unknown exact 1 15 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 743.000000,4265.000000, 0.148363,0.851637, maf-5-some-pop 732 chr21 19283880 19283881 rs7278267 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.252702 0.249985 unknown exact 1 13 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 743.000000,4265.000000, 0.148363,0.851637, maf-5-some-pop 732 chr21 19283929 19283930 rs371136371 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19283950 19283951 rs191534970 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19283961 19283962 rs573209285 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19284010 19284011 rs534415495 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284028 19284029 rs558927131 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19284035 19284036 rs571472105 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19284043 19284044 rs572163648 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 -,C, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19284047 19284048 rs577364513 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19284182 19284183 rs376081508 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284204 19284205 rs563158966 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19284213 19284214 rs575325540 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19284217 19284218 rs73319599 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 732 chr21 19284239 19284240 rs8130106 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499937 0.005591 unknown exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 2476.000000,2532.000000, 0.494409,0.505591, maf-5-some-pop,maf-5-all-pops 732 chr21 19284260 19284260 rs796352199 0 + - - -/TG genomic insertion unknown 0 0 unknown between 1 1 HAMMER_LAB, 0 732 chr21 19284270 19284271 rs528131401 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284271 19284272 rs779100435 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19284287 19284288 rs763945707 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19284302 19284303 rs776335872 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19284307 19284308 rs183835758 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284314 19284315 rs115296490 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4951.000000,57.000000, 0.988618,0.011382, 732 chr21 19284354 19284355 rs371353782 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19284414 19284415 rs150377361 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.249886 0.25 unknown exact 1 MixedObserved 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,C, 733.000000,4275.000000, 0.146366,0.853634, maf-5-some-pop 732 chr21 19284414 19284415 rs550479360 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19284425 19284426 rs775496090 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19284431 19284432 rs375894544 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284439 19284439 rs544056225 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19284451 19284451 rs71311047 0 + - - -/T genomic insertion by-cluster 0.5 0 unknown between 1 2 HUMANGENOME_JCVI,PJP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19284459 19284459 rs199789088 0 + - - -/TG genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 732 chr21 19284460 19284461 rs28579852 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 4 HAMMER_LAB,ILLUMINA,SSAHASNP,WEILL_CORNELL_DGM, 0 732 chr21 19284460 19284460 rs201007230 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.35894 0.225016 unknown between 1 MixedObserved 1 1000GENOMES, 2 -,G, 3834.000000,1174.000000, 0.765575,0.234425, maf-5-some-pop 732 chr21 19284490 19284491 rs111242452 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19284496 19284497 rs530040686 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19284527 19284528 rs111872575 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 BCM-HGSC-SUB,TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19284553 19284554 rs185994969 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 732 chr21 19284583 19284584 rs547359017 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19284606 19284607 rs186829471 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284613 19284614 rs113821896 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.294832 0.245947 unknown exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 900.000000,4108.000000, 0.179712,0.820288, maf-5-some-pop 732 chr21 19284614 19284615 rs534078466 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19284618 19284619 rs368961155 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA-GONL,GMI, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19284619 19284620 rs371638909 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,SSMP, 0 732 chr21 19284624 19284625 rs761666229 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19284625 19284625 rs777031786 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19284631 19284632 rs570990977 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19284644 19284645 rs191717098 0 + A A A/G genomic single by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 1 1000GENOMES, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19284647 19284648 rs556916136 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284658 19284659 rs182091564 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19284659 19284660 rs375081170 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19284692 19284693 rs868506536 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19284699 19284700 rs533188873 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19284704 19284705 rs369511444 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19284742 19284743 rs572778172 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284746 19284747 rs78999268 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19284747 19284748 rs186724797 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19284748 19284749 rs61396837 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.056607 0.158427 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 146.000000,4862.000000, 0.029153,0.970847, maf-5-some-pop 732 chr21 19284753 19284754 rs201942989 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 732 chr21 19284786 19284787 rs765979031 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19284795 19284796 rs543956444 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19284822 19284823 rs562452129 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19284849 19284850 rs546493556 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19284863 19284864 rs754674855 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19284883 19284884 rs781524786 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19284959 19284960 rs548077097 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19284972 19284973 rs748528812 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285059 19285060 rs192769499 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19285095 19285096 rs61616219 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.255782 0.249933 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4254.000000,754.000000, 0.849441,0.150559, maf-5-some-pop 732 chr21 19285106 19285107 rs58222429 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 732 chr21 19285125 19285126 rs377572325 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19285138 19285139 rs112226291 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19285143 19285144 rs796820901 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 732 chr21 19285184 19285185 rs552406255 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285197 19285198 rs2824544 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.25634 0.24992 unknown exact 1 18 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 756.000000,4252.000000, 0.150958,0.849042, maf-5-some-pop 732 chr21 19285200 19285201 rs538440821 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285205 19285206 rs185522367 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19285233 19285234 rs749339434 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285330 19285331 rs117884468 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19285341 19285342 rs377503743 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19285347 19285348 rs557978794 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19285365 19285366 rs578190779 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19285405 19285406 rs111573881 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19285406 19285408 rs72207124 0 + TA TA -/TA genomic deletion by-cluster,by-frequency,by-1000genomes 0.243633 0.249919 unknown range 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,TA, 711.000000,4297.000000, 0.141973,0.858027, maf-5-some-pop 732 chr21 19285408 19285408 rs3991222 0 + - - -/AT/TA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285413 19285414 rs112480688 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19285413 19285415 rs397796944 0 + AT AT -/AT genomic deletion unknown 0 0 unknown range 1 MixedObserved 5 ABI,DEVINE_LAB,HGSV,TISHKOFF,TSC-CSHL, 0 732 chr21 19285432 19285433 rs536185490 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285435 19285436 rs554432116 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19285549 19285550 rs572767842 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285585 19285586 rs559990045 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19285612 19285613 rs529156000 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19285636 19285637 rs576489661 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285659 19285660 rs746061264 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285660 19285661 rs190828077 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19285663 19285664 rs772477186 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285667 19285668 rs200231178 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,GMI, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285675 19285676 rs776478550 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285748 19285749 rs574269574 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19285754 19285755 rs761515369 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285767 19285768 rs741908 0 + T T A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.416055 0.186885 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1478.000000,3530.000000, 0.295128,0.704872, maf-5-some-pop 732 chr21 19285784 19285785 rs560360948 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285817 19285817 rs397867164 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 732 chr21 19285847 19285848 rs554112940 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19285849 19285850 rs762922404 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285853 19285854 rs149173499 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285859 19285860 rs569943190 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19285862 19285863 rs552495550 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19285904 19285905 rs548531901 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 732 chr21 19285929 19285930 rs765857588 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19285935 19285936 rs192810776 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19285941 19285942 rs143277378 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 1 1000GENOMES, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19285942 19285943 rs76318695 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 59.000000,4949.000000, 0.011781,0.988219, 732 chr21 19285976 19285977 rs140810187 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4983.000000,25.000000, 0.995008,0.004992, 732 chr21 19285977 19285978 rs536025175 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19286008 19286009 rs146189446 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19286060 19286061 rs573920637 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19286078 19286079 rs566318387 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19286089 19286090 rs372496677 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19286163 19286164 rs760351 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495135 0.049081 unknown exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2751.000000,2257.000000, 0.549321,0.450679, maf-5-some-pop,maf-5-all-pops 732 chr21 19286169 19286170 rs185332504 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19286196 19286197 rs370476447 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19286214 19286216 rs773558490 0 + AG AG -/AG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19286252 19286253 rs138881447 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.041819 0.138422 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 107.000000,4901.000000, 0.021366,0.978634, maf-5-some-pop 732 chr21 19286306 19286307 rs537578286 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19286312 19286313 rs9980714 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 732 chr21 19286325 19286326 rs555823891 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19286351 19286352 rs574305920 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19286383 19286384 rs757610254 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19286391 19286392 rs541980235 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19286411 19286412 rs188553967 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19286412 19286413 rs181353126 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19286418 19286419 rs545767969 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19286472 19286473 rs564516871 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19286476 19286477 rs753050029 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19286512 19286513 rs756455792 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19286513 19286514 rs741909 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.121717 0.214577 unknown exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4682.000000,326.000000, 0.934904,0.065096, maf-5-some-pop 732 chr21 19286523 19286524 rs749727365 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19286589 19286590 rs576613766 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19286631 19286632 rs185818311 0 + T T A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19286649 19286650 rs77978368 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4872.000000,136.000000, 0.972843,0.027157, maf-5-some-pop 732 chr21 19286689 19286690 rs562138415 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19286793 19286794 rs529470370 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19286823 19286824 rs142893152 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19286859 19286860 rs566133159 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19286906 19286907 rs117373774 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19286914 19286915 rs779298910 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19286916 19286917 rs146942236 0 + C C C/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 1 1000GENOMES, 2 C,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19286917 19286918 rs2178943 0 + T T C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.428595 0.187593 unknown exact 1 SingleClassTriAllelic 21 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 3 C,G,T, 1492.000000,37.000000,3479.000000, 0.297923,0.007388,0.694688, maf-5-some-pop,maf-5-all-pops 732 chr21 19286918 19286919 rs746008096 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19286978 19286979 rs555860871 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19286986 19286987 rs574147837 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19287002 19287003 rs866350080 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19287027 19287028 rs866866493 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19287028 19287029 rs535297765 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19287030 19287031 rs772238118 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 732 chr21 19287045 19287046 rs137890709 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19287046 19287047 rs572142125 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19287079 19287080 rs546104330 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19287082 19287083 rs188217658 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19287118 19287119 rs149491305 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 732 chr21 19287139 19287140 rs527562121 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19287151 19287152 rs547347086 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19287174 19287175 rs543794933 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19287177 19287178 rs181043831 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19287187 19287188 rs7281164 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.082176 0.185298 unknown exact 1 16 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4793.000000,215.000000, 0.957069,0.042931, maf-5-some-pop 732 chr21 19287211 19287212 rs111981407 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 unknown exact 1 MixedObserved 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4807.000000,201.000000, 0.959864,0.040136, maf-5-some-pop 732 chr21 19287211 19287211 rs539266066 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.096652 0.197444 unknown between 1 MixedObserved 3 1000GENOMES,EVA_GENOME_DK,HAMMER_LAB, 2 -,A, 4753.000000,255.000000, 0.949081,0.050919, maf-5-some-pop 732 chr21 19287215 19287216 rs370965124 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 732 chr21 19287246 19287246 rs747050337 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 732 chr21 19287255 19287256 rs7280777 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4849.000000,159.000000, 0.968251,0.031749, maf-5-some-pop 732 chr21 19287286 19287287 rs533348646 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19287287 19287288 rs143935752 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19287318 19287319 rs573533497 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19287353 19287354 rs762865171 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19287364 19287365 rs7276331 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.472147 0.114677 unknown exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1913.000000,3095.000000, 0.381989,0.618011, maf-5-some-pop,maf-5-all-pops 732 chr21 19287391 19287392 rs559454379 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 732 chr21 19287400 19287401 rs187161719 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19287474 19287475 rs773785750 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19287511 19287512 rs549324645 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19287513 19287516 rs763332068 0 + GAG GAG -/GAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19287519 19287520 rs371651013 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 732 chr21 19287523 19287524 rs76394355 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.116838 0.211584 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 312.000000,4696.000000, 0.062300,0.937700, maf-5-some-pop 732 chr21 19287553 19287554 rs535581879 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19287592 19287593 rs569411351 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 732 chr21 19287598 19287599 rs113285827 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 732 chr21 19287638 19287639 rs73321508 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.113685 0.209567 unknown exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 303.000000,4705.000000, 0.060503,0.939497, maf-5-some-pop 732 chr21 19287648 19287649 rs371570661 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19287669 19287670 rs56079436 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.064842 0.167978 near-gene-5 exact 1 6 1000GENOMES,HAMMER_LAB,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 168.000000,4840.000000, 0.033546,0.966454, maf-5-some-pop 732 chr21 19287672 19287673 rs148774886 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 near-gene-5 exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19287749 19287750 rs7280490 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496483 0.041785 near-gene-5 exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2294.000000,2714.000000, 0.458067,0.541933, maf-5-some-pop,maf-5-all-pops 732 chr21 19287752 19287753 rs9984238 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.48955 0.071525 near-gene-5 exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2142.000000,2866.000000, 0.427716,0.572284, maf-5-some-pop,maf-5-all-pops 732 chr21 19287761 19287762 rs113033938 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.076315 0.179815 near-gene-5 exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 199.000000,4809.000000, 0.039736,0.960264, maf-5-some-pop 732 chr21 19287794 19287795 rs573930198 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19287810 19287811 rs374945794 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 732 chr21 19287861 19287862 rs796358620 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 HAMMER_LAB, 0 732 chr21 19287873 19287874 rs541549709 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19287899 19287900 rs534423891 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 732 chr21 19287903 19287904 rs192293282 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19287906 19287907 rs142093597 0 + A A A/G genomic single by-1000genomes 0 0 near-gene-5 exact 1 1 1000GENOMES, 0 732 chr21 19287916 19287917 rs754308169 0 + A A A/C genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19287923 19287924 rs757831828 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19287975 19287976 rs146363956 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 near-gene-5 exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19287996 19287997 rs762846835 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 732 chr21 19288010 19288011 rs183255587 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 near-gene-5 exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19288011 19288012 rs563648347 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19288029 19288030 rs865951037 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19288083 19288084 rs75804330 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 near-gene-5 exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 732 chr21 19288104 19288105 rs199873512 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 GMI, 0 732 chr21 19288124 19288125 rs554134297 0 + A A A/C genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 732 chr21 19288139 19288140 rs185927351 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288147 19288148 rs189991467 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 near-gene-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19288152 19288156 rs200053602 0 + CTGT CTGT -/CTGT genomic deletion by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 near-gene-5 range 1 2 1000GENOMES,LUNTER, 2 -,CTGT, 57.000000,4951.000000, 0.011382,0.988618, 732 chr21 19288154 19288158 rs372338234 0 + GTCT GTCT -/GTCT genomic deletion unknown 0 0 near-gene-5 range 1 1 TISHKOFF, 0 732 chr21 19288179 19288180 rs528865505 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288191 19288192 rs2824545 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.489376 0.072105 near-gene-5 exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2869.000000,2139.000000, 0.572883,0.427117, maf-5-some-pop,maf-5-all-pops 732 chr21 19288203 19288204 rs182451936 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19288209 19288210 rs539655920 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288214 19288215 rs766974613 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 732 chr21 19288221 19288222 rs867335392 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19288230 19288233 rs774624381 0 + AAG AAG -/AAG genomic deletion by-cluster 0 0 near-gene-5 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19288235 19288236 rs754347814 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 732 chr21 19288236 19288237 rs2824546 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.488606 0.074614 near-gene-5 exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2126.000000,2882.000000, 0.424521,0.575479, maf-5-some-pop,maf-5-all-pops 732 chr21 19288248 19288249 rs569862683 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19288274 19288275 rs537372924 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288289 19288290 rs768980167 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19288290 19288291 rs555685383 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19288319 19288320 rs573995259 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288372 19288373 rs187166929 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19288405 19288406 rs144487110 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 near-gene-5 exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19288439 19288440 rs151043255 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19288441 19288442 rs576600254 0 + A A A/G genomic single by-cluster 0 0 near-gene-5 exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19288464 19288465 rs557870016 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 JMKIDD_LAB, 0 732 chr21 19288465 19288466 rs749089355 0 + G G G/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19288493 19288494 rs139676569 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19288500 19288501 rs149802093 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 near-gene-5 exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4959.000000,49.000000, 0.990216,0.009784, 732 chr21 19288537 19288538 rs575409103 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288560 19288561 rs2824547 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.496416 0.04218 near-gene-5 exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2292.000000,2716.000000, 0.457668,0.542332, maf-5-some-pop,maf-5-all-pops 732 chr21 19288561 19288562 rs145741411 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 near-gene-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 90.000000,4918.000000, 0.017971,0.982029, 732 chr21 19288598 19288599 rs192306957 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288600 19288601 rs373914340 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 732 chr21 19288601 19288602 rs149087006 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 near-gene-5 exact 1 2 1000GENOMES,SSMP, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 732 chr21 19288615 19288616 rs559294956 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288623 19288623 rs375709865 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 near-gene-5 between 1 2 1000GENOMES,LUNTER, 2 -,T, 4945.000000,63.000000, 0.987420,0.012580, 732 chr21 19288633 19288634 rs533108137 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19288642 19288650 rs201009801 0 + CAGATTGT CAGATTGT -/CAGATTGT genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 near-gene-5 range 1 2 1000GENOMES,LUNTER, 2 -,CAGATTGT, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19288670 19288671 rs573893158 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 JMKIDD_LAB, 0 732 chr21 19288674 19288675 rs368772708 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 732 chr21 19288677 19288677 rs747238819 0 + - - -/T genomic insertion unknown 0 0 near-gene-5 between 1 1 EVA_DECODE, 0 732 chr21 19288706 19288707 rs2824548 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.425123 0.178415 near-gene-5 exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BGI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 3473.000000,1535.000000, 0.693490,0.306510, maf-5-some-pop 732 chr21 19288707 19288708 rs113356803 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 near-gene-5 exact 1 4 1000GENOMES,BUSHMAN,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 732 chr21 19288739 19288740 rs147822344 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19288766 19288767 rs141474774 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 near-gene-5 exact 1 2 1000GENOMES,SSMP, 2 A,C, 26.000000,4982.000000, 0.005192,0.994808, 732 chr21 19288784 19288785 rs369249918 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 732 chr21 19288785 19288786 rs567400993 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19288824 19288829 rs542950080 0 + TATAA TATAA -/TATAA genomic deletion by-frequency,by-1000genomes 0.01112 0.07373 near-gene-5 range 1 1 1000GENOMES, 2 -,TATAA, 28.000000,4980.000000, 0.005591,0.994409, 732 chr21 19288870 19288871 rs35227630 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.490175 0.069396 near-gene-5 exact 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,T, 2153.000000,2855.000000, 0.429912,0.570088, maf-5-some-pop,maf-5-all-pops 732 chr21 19288879 19288880 rs397866767 0 + T T -/T genomic deletion unknown 0 0 near-gene-5 exact 1 1 ABI, 0 732 chr21 19288888 19288889 rs147004405 0 + T T A/T genomic single by-frequency,by-1000genomes 0.024843 0.108648 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 63.000000,4945.000000, 0.012580,0.987420, 732 chr21 19288904 19288905 rs147987546 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 near-gene-5 exact 1 2 1000GENOMES,SSMP, 2 C,T, 4945.000000,63.000000, 0.987420,0.012580, 732 chr21 19288932 19288933 rs115324463 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 near-gene-5 exact 1 2 1000GENOMES,SSMP, 2 C,T, 4945.000000,63.000000, 0.987420,0.012580, 732 chr21 19288981 19288982 rs115843078 0 + G G A/G genomic single by-frequency,by-1000genomes 0.015061 0.08546 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19288985 19288986 rs370980682 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 732 chr21 19289013 19289014 rs78290088 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 near-gene-5 exact 1 5 1000GENOMES,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 732 chr21 19289040 19289041 rs182863009 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19289047 19289048 rs771449438 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289072 19289075 rs753741987 0 + TTG TTG -/TTG genomic deletion by-cluster 0 0 near-gene-5 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289073 19289074 rs73321516 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 near-gene-5 exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 196.000000,4812.000000, 0.039137,0.960863, maf-5-some-pop 732 chr21 19289085 19289086 rs140671729 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19289138 19289139 rs868648013 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19289150 19289151 rs760227789 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289162 19289163 rs573501795 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289178 19289179 rs73321518 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.08836 0.190715 near-gene-5 exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 232.000000,4776.000000, 0.046326,0.953674, maf-5-some-pop 732 chr21 19289199 19289200 rs150114856 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 near-gene-5 exact 1 2 1000GENOMES,SSMP, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 732 chr21 19289251 19289252 rs138556111 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289261 19289262 rs367910848 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 near-gene-5 exact 1 2 1000GENOMES,SSMP, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19289268 19289269 rs563345802 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289269 19289270 rs74888085 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 near-gene-5 exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19289312 19289313 rs762280239 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289325 19289326 rs548863544 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19289327 19289328 rs9974057 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.495927 0.044944 near-gene-5 exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2730.000000,2278.000000, 0.545128,0.454872, maf-5-some-pop,maf-5-all-pops 732 chr21 19289351 19289352 rs529987455 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 732 chr21 19289367 19289368 rs141626209 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19289396 19289397 rs374137919 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 732 chr21 19289397 19289398 rs113752974 0 + G G A/G genomic single by-cluster 0.5 0 near-gene-5 exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19289406 19289407 rs769788039 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 732 chr21 19289415 19289416 rs549359235 0 + C C C/T genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289420 19289421 rs546848639 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289424 19289425 rs568555334 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 2 1000GENOMES,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19289428 19289429 rs7282286 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.481319 0.094823 near-gene-5 exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2988.000000,2020.000000, 0.596645,0.403355, maf-5-some-pop,maf-5-all-pops 732 chr21 19289429 19289430 rs188616399 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19289436 19289437 rs146374566 0 + A A A/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 4985.000000,23.000000, 0.995407,0.004593, 732 chr21 19289459 19289460 rs372112508 0 + T T G/T genomic single by-cluster 0 0 near-gene-5 exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19289471 19289474 rs749083997 0 + GCA GCA -/GCA genomic deletion by-cluster 0 0 near-gene-5 range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289502 19289503 rs113606517 0 + C C C/T genomic single unknown 0.5 0 near-gene-5 exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19289551 19289552 rs536743611 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289555 19289556 rs779985302 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289559 19289560 rs9984790 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02601 0.111035 near-gene-5 exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 732 chr21 19289562 19289563 rs143080615 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289572 19289573 rs144371309 0 + T T A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 near-gene-5 exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19289572 19289572 rs543421623 0 + - - -/T genomic insertion unknown 0 0 near-gene-5 between 1 MixedObserved 1 SSIP, 0 732 chr21 19289581 19289582 rs774021546 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 732 chr21 19289594 19289595 rs80069008 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 near-gene-5 exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,G, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 732 chr21 19289610 19289611 rs7282469 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.104149 0.203046 near-gene-5 exact 1 15 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4732.000000,276.000000, 0.944888,0.055112, maf-5-some-pop 732 chr21 19289640 19289641 rs544972359 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19289641 19289642 rs563380285 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19289647 19289648 rs530662039 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19289670 19289671 rs376716655 0 + G G A/G genomic single unknown 0 0 untranslated-5 exact 1 1 SSMP, 0 732 chr21 19289676 19289677 rs370023905 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 untranslated-5 exact 1 2 1000GENOMES,SSMP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19289732 19289733 rs148719088 0 + C C C/T genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19289743 19289744 rs2205377 0 + G G C/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19289792 19289793 rs745779550 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289806 19289807 rs142249276 0 + A A A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19289807 19289808 rs75577189 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19289834 19289835 rs532380930 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289848 19289849 rs774858791 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289868 19289869 rs550602162 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19289869 19289870 rs56064943 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,HGSV,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 G,T, 4979.000000,29.000000, 0.994209,0.005791, maf-5-some-pop 732 chr21 19289877 19289878 rs746532671 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289895 19289896 rs768134277 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19289898 19289901 rs202057101 0 + CAA CAA -/CAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron range 1 1 1000GENOMES, 2 -,CAA, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19289901 19289902 rs536375627 0 + G G G/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 G,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19289904 19289905 rs555035133 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19289905 19289906 rs566969882 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19289908 19289910 rs200642117 0 + CC CC -/CC genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 732 chr21 19289908 19289909 rs534376885 0 + C C C/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19289909 19289910 rs559298143 0 + C C C/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19289918 19289919 rs577571370 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19289925 19289926 rs11357596 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.175576 0.238665 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,C, 487.000000,4521.000000, 0.097244,0.902756, maf-5-some-pop 732 chr21 19289926 19289927 rs193271583 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19289955 19289956 rs557040357 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19289958 19289959 rs150824333 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19289981 19289982 rs140024974 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19290004 19290004 rs758107356 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290012 19290013 rs145436195 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290013 19290014 rs528295385 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290015 19290016 rs540375183 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290056 19290057 rs147831628 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290085 19290086 rs141304106 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290095 19290096 rs776443533 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290100 19290101 rs534090329 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290102 19290103 rs13047363 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.496616 0.040995 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2710.000000,2298.000000, 0.541134,0.458866, maf-5-some-pop,maf-5-all-pops 732 chr21 19290108 19290109 rs13047366 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.425123 0.178415 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3473.000000,1535.000000, 0.693490,0.306510, maf-5-some-pop 732 chr21 19290112 19290113 rs149961841 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290130 19290131 rs536985433 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19290131 19290132 rs115101957 0 + A A A/C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19290133 19290134 rs114304049 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290168 19290169 rs145050828 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290193 19290193 rs138828872 0 + - - -/GT/GTGT/GTGTGT genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 rs-cluster-nonoverlapping-alleles 732 chr21 19290194 19290195 rs552842273 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19290200 19290208 rs200804661 0 + TGTGTGTA TGTGTGTA -/TGTGTGTA genomic deletion unknown 0 0 intron range 1 1 GMI, 0 732 chr21 19290205 19290206 rs571051315 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 732 chr21 19290207 19290208 rs9637039 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.428182 0.17536 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SC_SNP,WEILL_CORNELL_DGM, 2 A,G, 3453.000000,1555.000000, 0.689497,0.310503, maf-5-some-pop 732 chr21 19290208 19290210 rs371692948 0 + TG TG -/TG genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 732 chr21 19290208 19290208 rs370637496 0 + - - -/TGTGTG genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 732 chr21 19290232 19290233 rs2824549 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.483345 0.089721 intron exact 1 24 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2047.000000,2961.000000, 0.408746,0.591254, maf-5-some-pop,maf-5-all-pops 732 chr21 19290241 19290242 rs77596845 0 + G G G/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19290246 19290247 rs373381493 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19290250 19290251 rs143049234 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290258 19290259 rs2824550 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.497749 0.033471 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2336.000000,2672.000000, 0.466454,0.533546, maf-5-some-pop,maf-5-all-pops 732 chr21 19290261 19290262 rs572935352 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19290270 19290271 rs148189327 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290274 19290275 rs564766005 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290303 19290304 rs755110859 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290337 19290338 rs369772883 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19290360 19290361 rs544119218 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19290367 19290368 rs184437396 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290387 19290388 rs530047229 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19290418 19290419 rs558741781 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19290478 19290479 rs138894315 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,LUNTER, 2 -,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19290483 19290484 rs58041219 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 732 chr21 19290490 19290491 rs140302760 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19290495 19290496 rs145314869 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4942.000000,66.000000, 0.986821,0.013179, 732 chr21 19290509 19290510 rs572505947 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290523 19290524 rs138426829 0 + A A A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290531 19290532 rs538407783 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19290531 19290531 rs200120855 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron between 1 MixedObserved 1 1000GENOMES, 2 -,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290537 19290538 rs760179238 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19290539 19290540 rs376236716 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19290540 19290541 rs745737819 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290549 19290550 rs73321525 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 732 chr21 19290551 19290552 rs150694321 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290562 19290563 rs188994847 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19290576 19290577 rs138983232 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290591 19290592 rs149429166 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290592 19290592 rs375143460 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron between 1 2 1000GENOMES,LUNTER, 2 -,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290609 19290610 rs192302344 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290631 19290632 rs79009645 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.046775 0.145601 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_DECODE,GMI,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 120.000000,4888.000000, 0.023962,0.976038, maf-5-some-pop 732 chr21 19290654 19290656 rs144812030 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 MixedObserved 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AT, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19290654 19290655 rs558199351 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290656 19290657 rs184133054 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290664 19290665 rs567399049 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19290668 19290669 rs188854962 0 + C C C/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290677 19290678 rs201212647 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 2 1000GENOMES,LUNTER, 2 -,A, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 732 chr21 19290717 19290718 rs201915868 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19290722 19290723 rs202209208 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,LUNTER, 2 -,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290743 19290744 rs139848823 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290749 19290750 rs758734385 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19290767 19290768 rs145471212 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290830 19290831 rs180672074 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19290832 19290833 rs560560353 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19290840 19290841 rs74833363 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19290877 19290878 rs546335488 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19290882 19290883 rs147263232 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290884 19290885 rs139675664 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 40.000000,4968.000000, 0.007987,0.992013, 732 chr21 19290898 19290899 rs142640366 0 + A A A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19290903 19290904 rs568559081 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19290914 19290915 rs529619970 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19290920 19290921 rs150980982 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290921 19290922 rs139652313 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19290938 19290939 rs768251848 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290939 19290940 rs533520555 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19290946 19290947 rs776331973 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290949 19290950 rs747790605 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19290969 19290970 rs186112095 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19290970 19290971 rs190246548 0 + A A A/C genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 1 1000GENOMES, 2 A,C, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19290971 19290972 rs770328077 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291045 19291046 rs149739533 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291077 19291078 rs74837844 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 BGI,ENSEMBL,GMI, 1 G, 2.000000, 1.000000, 732 chr21 19291082 19291083 rs146671408 0 + T T A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291090 19291090 rs749649497 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291095 19291096 rs140214557 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 732 chr21 19291096 19291097 rs182476617 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19291120 19291121 rs145354740 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291129 19291130 rs773649317 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291142 19291143 rs146439480 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291159 19291160 rs149059032 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291168 19291169 rs564580295 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19291169 19291170 rs113877926 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 196.000000,4812.000000, 0.039137,0.960863, maf-5-some-pop 732 chr21 19291187 19291188 rs143364002 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291201 19291202 rs562342260 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19291222 19291223 rs543342161 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19291230 19291231 rs73321529 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074843 0.178382 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4813.000000,195.000000, 0.961062,0.038938, maf-5-some-pop 732 chr21 19291232 19291233 rs548094072 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19291241 19291242 rs565989643 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19291247 19291248 rs148347658 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291256 19291257 rs551798697 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19291301 19291302 rs370157626 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19291316 19291317 rs774956436 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291319 19291320 rs572874901 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19291333 19291334 rs141592299 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291349 19291350 rs563262980 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19291370 19291371 rs150475576 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291395 19291396 rs186379562 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19291428 19291429 rs190432611 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 732 chr21 19291434 19291435 rs181712814 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 732 chr21 19291445 19291446 rs572327261 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19291449 19291450 rs546109285 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19291455 19291456 rs558213108 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19291468 19291469 rs374717645 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19291498 19291499 rs576490480 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19291521 19291522 rs138311040 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291523 19291524 rs35675673 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19291527 19291528 rs562014047 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19291536 19291537 rs574182262 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19291545 19291546 rs374397476 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19291550 19291551 rs143794231 0 + T T G/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 G,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291584 19291585 rs537520394 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19291602 19291603 rs185286720 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19291624 19291624 rs200546138 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron between 1 2 1000GENOMES,LUNTER, 2 -,A, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291641 19291642 rs368208260 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19291672 19291673 rs551634971 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19291673 19291674 rs531944869 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19291697 19291698 rs756319592 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291703 19291704 rs147273697 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291707 19291708 rs140857534 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291728 19291729 rs149372667 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291730 19291731 rs144066940 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291731 19291732 rs535647619 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19291764 19291765 rs200246758 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19291781 19291782 rs148656327 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19291787 19291788 rs755118240 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19291795 19291796 rs142226919 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291806 19291807 rs558051675 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19291812 19291813 rs113292789 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074843 0.178382 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 195.000000,4813.000000, 0.038938,0.961062, maf-5-some-pop 732 chr21 19291824 19291825 rs545790011 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291833 19291834 rs59353590 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 intron exact 1 6 1000GENOMES,BUSHMAN,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 732 chr21 19291857 19291858 rs758233734 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291866 19291867 rs191459566 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19291871 19291872 rs139094927 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.015853 0.087659 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 C,G,T, 4968.000000,2.000000,38.000000, 0.992013,0.000399,0.007588, 732 chr21 19291872 19291873 rs182436885 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19291877 19291878 rs144015133 0 + C C A/C genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,C, 23.000000,4985.000000, 0.004593,0.995407, 732 chr21 19291974 19291975 rs545308210 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19291978 19291979 rs146420824 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19291985 19291986 rs779813753 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19291990 19291991 rs531339019 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19292013 19292014 rs751494540 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292014 19292015 rs140796194 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19292016 19292017 rs559135503 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19292017 19292018 rs747666632 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292021 19292022 rs529025481 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19292028 19292029 rs150109210 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19292058 19292059 rs769518331 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292063 19292064 rs145825191 0 + A A A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19292091 19292092 rs771319892 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292100 19292101 rs9983882 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.102726 0.202016 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 272.000000,4736.000000, 0.054313,0.945687, maf-5-some-pop 732 chr21 19292138 19292139 rs551705588 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19292180 19292181 rs771298803 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292202 19292203 rs148972189 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19292248 19292249 rs147116922 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292250 19292251 rs113169944 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19292256 19292257 rs547665760 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19292298 19292299 rs555527431 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19292299 19292300 rs138512505 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292306 19292307 rs774625838 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292316 19292317 rs534839440 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19292350 19292351 rs9983969 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.108048 0.20579 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4721.000000,287.000000, 0.942692,0.057308, maf-5-some-pop 732 chr21 19292363 19292364 rs146434183 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.020595 0.099696 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 C,G,T, 4956.000000,15.000000,37.000000, 0.989617,0.002995,0.007388, 732 chr21 19292367 19292368 rs139012762 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292369 19292370 rs772631313 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292385 19292386 rs112297025 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19292395 19292396 rs775477785 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292402 19292403 rs141480049 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19292405 19292406 rs561557141 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19292415 19292416 rs542909410 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 732 chr21 19292476 19292477 rs375796928 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19292496 19292497 rs530394169 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19292515 19292516 rs754119089 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292538 19292539 rs150841442 0 + T T A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292548 19292549 rs139573008 0 + T T G/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 G,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292560 19292561 rs190897109 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19292587 19292588 rs149284894 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292613 19292614 rs183323102 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19292619 19292620 rs146241554 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19292634 19292635 rs139455028 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19292635 19292636 rs534668874 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19292640 19292641 rs550463767 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19292796 19292797 rs553051456 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19292824 19292825 rs116019448 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19292827 19292828 rs28634769 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19292831 19292832 rs28572559 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19292833 19292834 rs144142196 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19292844 19292846 rs759782680 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19292856 19292857 rs777849916 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19292899 19292900 rs114521735 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292926 19292929 rs201719267 0 + GTT GTT -/GTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron range 1 2 1000GENOMES,LUNTER, 2 -,GTT, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19292931 19292934 rs374301095 0 + TGT TGT -/TGT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19292938 19292939 rs575771294 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19292953 19292954 rs114905909 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19292971 19292972 rs115555782 0 + C C C/T genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 1 1000GENOMES, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19293011 19293012 rs766185143 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293036 19293037 rs2824551 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498059 0.03109 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2348.000000,2660.000000, 0.468850,0.531150, maf-5-some-pop,maf-5-all-pops 732 chr21 19293042 19293043 rs148605159 0 + C C C/G genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 1 1000GENOMES, 2 C,G, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19293048 19293049 rs142122402 0 + G G C/G genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 1 1000GENOMES, 2 C,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19293052 19293053 rs151158875 0 + A A A/C genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 1 1000GENOMES, 2 A,C, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19293053 19293054 rs545104300 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19293087 19293088 rs563373547 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19293129 19293130 rs530695300 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19293132 19293133 rs549027213 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293187 19293188 rs140552894 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19293196 19293197 rs372759077 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19293197 19293198 rs115683158 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19293219 19293220 rs528474059 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293233 19293234 rs188045440 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19293235 19293236 rs376398288 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19293272 19293273 rs145607025 0 + G G C/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19293317 19293323 rs199873818 0 + CATATA CATATA -/CATATA genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19293324 19293325 rs868452239 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19293339 19293340 rs148883471 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BL, 0 732 chr21 19293345 19293346 rs754896713 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293354 19293355 rs116193887 0 + T T A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19293373 19293374 rs147715040 0 + G G C/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19293380 19293381 rs192137152 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19293392 19293393 rs569374498 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19293401 19293402 rs781295258 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293416 19293417 rs752208980 0 + T T C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293422 19293423 rs536806116 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19293422 19293422 rs772062672 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293451 19293452 rs142657930 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293455 19293456 rs867651076 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19293515 19293516 rs79349647 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19293517 19293518 rs534494806 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19293548 19293549 rs553034200 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19293559 19293560 rs777191103 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293567 19293568 rs748946478 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293586 19293587 rs745706735 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19293599 19293600 rs377208881 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19293629 19293630 rs577699283 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293632 19293633 rs114969337 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19293649 19293650 rs563365691 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293676 19293677 rs138728427 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19293690 19293691 rs371543094 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 732 chr21 19293759 19293760 rs770544210 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293766 19293767 rs184534131 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19293780 19293781 rs528414580 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19293787 19293788 rs772509138 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293793 19293794 rs116590175 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19293797 19293798 rs564972604 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293816 19293817 rs148917793 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19293827 19293828 rs550799718 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293832 19293833 rs376044381 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19293841 19293842 rs775998897 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19293863 19293864 rs187810007 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293929 19293930 rs113523811 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19293934 19293935 rs566034621 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19293946 19293947 rs548813717 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19293992 19293993 rs768748928 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294111 19294112 rs148125625 0 + A A A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,C, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19294114 19294115 rs535155570 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19294125 19294126 rs192942495 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19294174 19294179 rs776379453 0 + TTAAA TTAAA -/TTAAA genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 732 chr21 19294220 19294221 rs559262059 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19294246 19294247 rs554323161 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19294253 19294254 rs776634564 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294309 19294310 rs200197177 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19294310 19294310 rs57361687 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.479904 0.098205 intron between 1 13 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 3006.000000,2002.000000, 0.600240,0.399760, maf-5-some-pop,maf-5-all-pops 732 chr21 19294312 19294312 rs398081476 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 BGI, 0 732 chr21 19294313 19294314 rs369133647 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 732 chr21 19294313 19294313 rs397962514 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 732 chr21 19294391 19294391 rs35955014 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19294409 19294410 rs577732323 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19294434 19294435 rs762092602 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294444 19294445 rs551486857 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19294454 19294455 rs142845701 0 + A A A/G genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 1 1000GENOMES, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19294473 19294474 rs2205378 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 C, 690.000000, 1.000000, 732 chr21 19294516 19294517 rs575335460 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19294516 19294516 rs201880211 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron between 1 MixedObserved 2 1000GENOMES,LUNTER, 2 -,A, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19294518 19294519 rs368628677 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19294522 19294523 rs867103639 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19294525 19294527 rs551083583 0 + AA AA -/AA genomic deletion by-frequency,by-1000genomes 0.015061 0.08546 intron range 1 MixedObserved 1 1000GENOMES, 2 -,AA, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19294525 19294526 rs769558749 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA_GENOME_DK, 0 732 chr21 19294525 19294525 rs565380924 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 HAMMER_LAB,SSIP, 0 732 chr21 19294540 19294541 rs146254065 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19294541 19294542 rs560775028 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19294566 19294567 rs765383280 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294587 19294588 rs543228022 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294589 19294590 rs759429943 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294651 19294652 rs572685437 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19294673 19294674 rs767525847 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294680 19294681 rs540151959 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19294705 19294706 rs564792218 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19294717 19294718 rs532380593 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19294736 19294737 rs184198536 0 + A A A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19294782 19294783 rs763643580 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294794 19294795 rs753353851 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19294798 19294799 rs562738038 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19294818 19294819 rs17002193 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.024843 0.108648 intron exact 1 9 1000GENOMES,AFFY,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4945.000000,63.000000, 0.987420,0.012580, maf-5-some-pop 732 chr21 19294879 19294880 rs548379931 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19294881 19294882 rs142687789 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 732 chr21 19294929 19294930 rs534360220 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19295005 19295006 rs552905309 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19295036 19295037 rs571115077 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19295039 19295040 rs538145770 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19295078 19295079 rs556962937 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295083 19295084 rs571267843 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19295133 19295134 rs539992946 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19295135 19295136 rs146020053 0 + T T G/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 G,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19295151 19295152 rs536380461 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295156 19295157 rs756863038 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19295179 19295180 rs189363106 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19295185 19295186 rs180965428 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295187 19295188 rs114047530 0 + A A A/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 A,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19295201 19295202 rs778440429 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19295229 19295230 rs12483150 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.423413 0.180077 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3484.000000,1524.000000, 0.695687,0.304313, maf-5-some-pop 732 chr21 19295239 19295240 rs577115199 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295250 19295251 rs184699504 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19295263 19295264 rs189341896 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19295350 19295351 rs139468042 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19295372 19295373 rs531033910 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19295382 19295383 rs763403572 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19295393 19295394 rs181396208 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19295433 19295433 rs556659993 0 + - - -/GGGGTGGGGGT genomic insertion by-frequency,by-1000genomes 0.007559 0.061011 intron between 1 1 1000GENOMES, 2 -,GGGGTGGGGGT, 4989.000000,19.000000, 0.996206,0.003794, 732 chr21 19295434 19295435 rs542366806 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19295435 19295436 rs79413958 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19295441 19295445 rs532459035 0 + GGTT GGTT -/GGTT genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 732 chr21 19295483 19295484 rs527894235 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295509 19295510 rs758793576 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19295591 19295592 rs552842398 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19295592 19295592 rs111658435 0 + - - -/T genomic insertion unknown 0.5 0 intron between 1 1 BUSHMAN, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19295596 19295597 rs185929698 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19295602 19295603 rs76488611 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19295609 19295610 rs59036066 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 intron exact 1 5 1000GENOMES,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4881.000000,127.000000, 0.974641,0.025359, maf-5-some-pop 732 chr21 19295618 19295619 rs559341337 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19295622 19295623 rs79603521 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.071892 0.175435 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,T, 187.000000,4821.000000, 0.037340,0.962660, maf-5-some-pop 732 chr21 19295644 19295645 rs191076971 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19295647 19295649 rs544681290 0 + TA TA -/TA genomic deletion by-frequency,by-1000genomes 0.003986 0.044463 intron range 1 1 1000GENOMES, 2 -,TA, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19295657 19295658 rs535844587 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295672 19295673 rs376532587 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19295674 19295675 rs554253705 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295698 19295699 rs566272043 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19295699 19295700 rs181226663 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19295716 19295717 rs759959343 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19295717 19295718 rs35705175 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.480382 0.097079 intron exact 1 16 1000GENOMES,ABI,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 2008.000000,3000.000000, 0.400958,0.599042, maf-5-some-pop,maf-5-all-pops 732 chr21 19295718 19295719 rs796080213 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19295742 19295743 rs770835042 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 732 chr21 19295753 19295754 rs558359074 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295754 19295755 rs536500710 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19295778 19295779 rs372956982 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19295779 19295779 rs71318108 0 + - - -/TT/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.463774 0.129618 intron between 1 InconsistentAlleles 6 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI, 2 -,TT, 3178.000000,1830.000000, 0.634585,0.365415, maf-5-some-pop,maf-5-all-pops 732 chr21 19295780 19295780 rs386394353 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 732 chr21 19295790 19295791 rs144441078 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 29.000000,4979.000000, 0.005791,0.994209, 732 chr21 19295796 19295796 rs35873095 0 + - - -/TT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 TT, 2.000000, 1.000000, 732 chr21 19295835 19295836 rs544513190 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295841 19295842 rs7278006 0 + A A A/G genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19295843 19295844 rs866338814 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19295863 19295864 rs574781951 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19295864 19295865 rs542201612 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19295926 19295927 rs560487590 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19295967 19295968 rs186500618 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19295968 19295969 rs191000317 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19296013 19296014 rs770013132 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296019 19296020 rs182468103 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19296020 19296021 rs372680235 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19296052 19296053 rs550470823 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19296057 19296058 rs773604384 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296064 19296065 rs763309369 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296068 19296069 rs568619509 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19296070 19296071 rs145107373 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 1 1000GENOMES, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19296169 19296170 rs147725005 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19296175 19296176 rs187682933 0 + A A A/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19296186 19296187 rs775481233 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296190 19296191 rs561782797 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19296213 19296214 rs73321540 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, 2 A,C, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop 732 chr21 19296224 19296225 rs760654382 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296254 19296255 rs756232255 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19296292 19296293 rs74699663 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 171.000000,4837.000000, 0.034145,0.965855, maf-5-some-pop 732 chr21 19296306 19296307 rs759006227 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296327 19296328 rs756739477 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296329 19296330 rs112699464 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19296338 19296339 rs73208392 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.057734 0.159793 intron exact 1 9 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4859.000000,149.000000, 0.970248,0.029752, maf-5-some-pop 732 chr21 19296340 19296341 rs2824552 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497776 0.033272 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2337.000000,2671.000000, 0.466653,0.533347, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19296344 19296345 rs144931224 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19296353 19296354 rs758094912 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296376 19296377 rs535743231 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19296426 19296427 rs191064644 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19296486 19296487 rs572454076 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19296488 19296489 rs546333675 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19296520 19296521 rs780393291 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296528 19296529 rs2824553 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.423726 0.179776 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1526.000000,3482.000000, 0.304712,0.695288, maf-5-some-pop 732 chr21 19296557 19296558 rs182900804 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19296603 19296604 rs755454514 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296605 19296606 rs543698780 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19296609 19296610 rs781572595 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296617 19296618 rs2824554 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.497829 0.032876 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2669.000000,2339.000000, 0.532947,0.467053, maf-5-some-pop,maf-5-all-pops 732 chr21 19296636 19296637 rs188742153 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19296710 19296711 rs547670641 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19296725 19296726 rs192956186 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19296737 19296738 rs114135069 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 732 chr21 19296739 19296740 rs140600891 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19296745 19296746 rs184823521 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19296774 19296775 rs150412958 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19296781 19296782 rs549754320 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19296804 19296805 rs8133389 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,WI_SSAHASNP, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19296805 19296806 rs188138426 0 + C C A/C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19296822 19296823 rs749511309 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19296908 19296909 rs191100808 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19296945 19296948 rs547901320 0 + ATT ATT -/ATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron range 1 2 1000GENOMES,SSIP, 2 -,ATT, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19296959 19296960 rs573873422 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19297006 19297007 rs868049037 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19297021 19297022 rs552275633 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19297026 19297027 rs542846042 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19297027 19297028 rs554072844 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19297051 19297052 rs183648837 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19297060 19297061 rs2824555 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497695 0.033867 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2674.000000,2334.000000, 0.533946,0.466054, maf-5-some-pop,maf-5-all-pops 732 chr21 19297068 19297069 rs558123089 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19297077 19297080 rs754558293 0 + TAA TAA -/TAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19297079 19297080 rs775356476 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19297087 19297088 rs760395819 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19297098 19297103 rs148140336 0 + TTTTT TTTTT -/TTTTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron range 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,TTTTT, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19297117 19297118 rs777193003 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19297181 19297182 rs138137906 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19297201 19297202 rs543877401 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19297219 19297220 rs562179828 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19297231 19297232 rs776463576 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19297270 19297271 rs761850009 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19297295 19297296 rs111290799 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19297302 19297303 rs79369628 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19297321 19297322 rs573863251 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19297360 19297361 rs541349318 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19297418 19297419 rs534732494 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19297427 19297428 rs553293550 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19297445 19297446 rs559574173 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19297456 19297457 rs527302426 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19297479 19297480 rs189197889 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19297485 19297486 rs764702822 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19297512 19297513 rs564103583 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19297539 19297540 rs2824556 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.116488 0.211364 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 311.000000,4697.000000, 0.062101,0.937899, maf-5-some-pop 732 chr21 19297578 19297579 rs573536326 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19297588 19297589 rs145041191 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19297590 19297591 rs768322630 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19297595 19297596 rs2824557 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.428182 0.17536 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3453.000000,1555.000000, 0.689497,0.310503, maf-5-some-pop 732 chr21 19297609 19297610 rs181953582 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19297716 19297717 rs565939621 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19297746 19297747 rs141942760 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,C, 197.000000,4811.000000, 0.039337,0.960663, maf-5-some-pop 732 chr21 19297766 19297767 rs539742097 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19297776 19297777 rs114209712 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19297781 19297782 rs570017633 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19297842 19297843 rs761320194 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19297861 19297862 rs185673317 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19297865 19297866 rs375731625 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19297885 19297886 rs771285922 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19297889 19297890 rs774981035 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19297902 19297903 rs112952405 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19297909 19297910 rs577053701 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19297922 19297923 rs751872900 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19297931 19297931 rs567080824 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 1 1000GENOMES, 2 -,A, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19297934 19297934 rs373172827 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 732 chr21 19297976 19297977 rs138045721 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19297982 19297983 rs539755384 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19297990 19297991 rs565288896 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19298026 19298027 rs541189785 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19298069 19298070 rs207477755 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 732 chr21 19298086 19298087 rs553143894 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19298117 19298118 rs142518180 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 732 chr21 19298214 19298215 rs552670197 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19298243 19298244 rs545659059 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19298244 19298245 rs144146819 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19298261 19298262 rs190191613 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19298285 19298286 rs148285464 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19298341 19298342 rs752942880 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19298344 19298345 rs753125073 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298374 19298375 rs760928867 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19298375 19298376 rs561719195 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19298415 19298416 rs371745253 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19298526 19298527 rs529109533 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19298563 19298564 rs111332434 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BCM-HGSC-SUB, 0 732 chr21 19298563 19298563 rs150702868 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.105924 0.204309 intron between 1 MixedObserved 2 1000GENOMES,EVA_DECODE, 2 -,A, 4727.000000,281.000000, 0.943890,0.056110, maf-5-some-pop 732 chr21 19298573 19298574 rs11088659 0 + T T C/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19298573 19298577 rs386816715 0 + TTAA TTAA CTAC/TTAA genomic mnp unknown 0 0 intron rangeSubstitution 1 FlankMismatchGenomeEqual 1 TISHKOFF, 0 732 chr21 19298574 19298574 rs370084388 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 732 chr21 19298576 19298577 rs11088660 0 + A A A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19298585 19298586 rs9977540 0 + T T C/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19298605 19298606 rs771215597 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298645 19298646 rs181888647 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298689 19298690 rs9977625 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 732 chr21 19298690 19298691 rs78657028 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19298690 19298691 rs139560925 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 MixedObserved 6 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,GMI,LUNTER,PJP, 2 -,G, 4979.000000,29.000000, 0.994209,0.005791, 732 chr21 19298690 19298692 rs139967848 0 + GG GG -/GG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298691 19298692 rs751847334 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298691 19298692 rs867907310 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19298692 19298693 rs11700442 0 + G G G/T genomic single by-cluster,by-hapmap 0.197531 0.244432 intron exact 1 MixedObserved 16 ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,PJP,SSAHASNP, 2 G,T, 1.000000,8.000000, 0.111111,0.888889, 732 chr21 19298692 19298693 rs66675292 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19298692 19298694 rs200810397 0 + GT GT -/GT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 732 chr21 19298692 19298696 rs869090774 0 + GTTT GTTT -/GTTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 BCMHGSC_JDW, 0 732 chr21 19298692 19298692 rs767844049 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298694 19298694 rs574979326 0 + - - -/GG genomic insertion by-frequency,by-1000genomes 0.007955 0.062565 intron between 1 1 1000GENOMES, 2 -,GG, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19298708 19298709 rs34409622 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 732 chr21 19298708 19298709 rs63607264 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 2 BCMHGSC_JDW,ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19298741 19298742 rs551619914 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19298757 19298758 rs753902424 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19298783 19298784 rs569974005 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19298790 19298791 rs186518181 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19298791 19298792 rs141341069 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19298825 19298826 rs541856335 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298836 19298837 rs375083756 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19298860 19298861 rs757368244 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19298862 19298863 rs150725890 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19298882 19298883 rs761641873 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19298886 19298887 rs9975109 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.118235 0.212457 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4692.000000,316.000000, 0.936901,0.063099, maf-5-some-pop 732 chr21 19298931 19298932 rs575458032 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19298961 19298962 rs866785787 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19298982 19298983 rs139423531 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,GMI,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19298990 19298991 rs143539741 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19299016 19299017 rs557603230 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19299024 19299025 rs750438747 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19299026 19299027 rs188678732 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19299035 19299036 rs147155710 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19299049 19299050 rs140920914 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19299057 19299058 rs529026524 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19299070 19299071 rs541112700 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19299083 19299084 rs536193408 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19299142 19299143 rs538937602 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19299209 19299210 rs73321548 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 197.000000,4811.000000, 0.039337,0.960663, maf-5-some-pop 732 chr21 19299210 19299211 rs762473293 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299213 19299214 rs144869707 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19299233 19299234 rs551390661 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19299263 19299264 rs145807721 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19299269 19299270 rs373275815 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19299271 19299275 rs544022266 0 + AGAA AGAA -/AGAA genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299292 19299293 rs7283378 0 + T T A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19299295 19299296 rs759287089 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299304 19299305 rs148595143 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19299309 19299310 rs10446092 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.424968 0.178567 intron exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3474.000000,1534.000000, 0.693690,0.306310, maf-5-some-pop 732 chr21 19299310 19299311 rs112450791 0 + G G A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 732 chr21 19299311 19299312 rs753174938 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299320 19299324 rs145055365 0 + ACAG ACAG -/ACAG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 732 chr21 19299323 19299327 rs377136141 0 + GACA GACA -/GACA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19299328 19299332 rs559262874 0 + ACAC ACAC -/ACAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ACAC, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19299355 19299359 rs544942037 0 + TATG TATG -/TATG genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TATG, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19299364 19299366 rs532675275 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 732 chr21 19299370 19299371 rs868134219 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19299415 19299417 rs530760463 0 + TG TG -/TG genomic deletion by-frequency,by-1000genomes 0.008747 0.065553 intron range 1 1 1000GENOMES, 2 -,TG, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19299421 19299447 rs772725939 0 + TATGTATATATGTATATATGTATATA TATGTATATATGTATATATGTATATA -/TATGTATATATGTATATATGTATATA genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 732 chr21 19299431 19299432 rs534823798 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19299433 19299433 rs200152087 0 + - - -/TA genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 732 chr21 19299440 19299441 rs868072417 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19299441 19299443 rs201448751 0 + TA TA -/TA genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 732 chr21 19299442 19299443 rs180697739 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.047915 0.147179 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4885.000000,123.000000, 0.975439,0.024561, maf-5-some-pop 732 chr21 19299443 19299451 rs200122044 0 + TATATATG TATATATG -/TATATATG genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19299445 19299446 rs571768901 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19299447 19299447 rs201263904 0 + - - -/TG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 732 chr21 19299448 19299449 rs185367523 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 732 chr21 19299450 19299451 rs190917826 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 732 chr21 19299460 19299461 rs539175792 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19299461 19299477 rs150347074 0 + TATATGTATATATATG TATATGTATATATATG -/TATATGTATATATATG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 7 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 0 732 chr21 19299461 19299462 rs557378876 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19299461 19299461 rs751712804 0 + - - -/TATATGTATATATATG genomic insertion unknown 0 0 intron between 1 1 DDI, 0 732 chr21 19299462 19299463 rs575934063 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19299466 19299467 rs10446093 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 GMI,SC_SNP,WEILL_CORNELL_DGM, 0 732 chr21 19299467 19299469 rs202097804 0 + TA TA -/TA genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19299468 19299469 rs10446094 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 5 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SC_SNP,WEILL_CORNELL_DGM, 0 732 chr21 19299469 19299470 rs536924023 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19299474 19299475 rs199780987 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.481396 0.094634 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,WEILL_CORNELL_DGM, 2 A,G, 2987.000000,2021.000000, 0.596446,0.403554, maf-5-some-pop,maf-5-all-pops 732 chr21 19299476 19299477 rs200348574 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.491378 0.065088 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,WEILL_CORNELL_DGM, 2 A,G, 2021.000000,2632.000000, 0.434343,0.565657, maf-5-some-pop,maf-5-all-pops 732 chr21 19299477 19299477 rs371070747 0 + - - -/TA genomic insertion by-cluster,by-frequency,by-1000genomes 0.209447 0.246689 intron between 1 2 1000GENOMES,LUNTER, 2 -,TA, 2632.000000,355.000000, 0.881152,0.118848, maf-5-some-pop 732 chr21 19299484 19299484 rs61103356 0 + - - -/AT genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 732 chr21 19299496 19299497 rs541151292 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19299497 19299498 rs372979954 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19299514 19299515 rs559446202 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19299515 19299517 rs200265780 0 + TG TG -/TG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299517 19299517 rs756135598 0 + - - -/TG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299523 19299523 rs754827295 0 + - - -/TA genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 732 chr21 19299524 19299525 rs34381035 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.432055 0.171336 intron exact 1 14 1000GENOMES,ABI,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,PJP,WEILL_CORNELL_DGM, 2 A,G, 1568.000000,3399.000000, 0.315684,0.684317, maf-5-some-pop 732 chr21 19299525 19299525 rs566915473 0 + - - -/TA genomic insertion by-frequency,by-1000genomes 0.023553 0.105933 intron between 1 1 1000GENOMES, 2 -,TA, 3399.000000,41.000000, 0.988081,0.011919, 732 chr21 19299526 19299527 rs183297375 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19299532 19299533 rs563338471 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19299585 19299586 rs530860266 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19299586 19299587 rs772394377 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299610 19299611 rs147145816 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,LUNTER, 2 -,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19299676 19299677 rs142964795 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19299700 19299701 rs73321553 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 A,C, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19299721 19299722 rs528437980 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19299724 19299725 rs2824558 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.097727 0.198275 intron exact 1 16 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 258.000000,4750.000000, 0.051518,0.948482, maf-5-some-pop 732 chr21 19299732 19299733 rs151043013 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19299737 19299738 rs78504128 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19299738 19299739 rs141186803 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,WARNICH_LAB,WEILL_CORNELL_DGM, 2 C,T, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19299747 19299748 rs866901303 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19299791 19299792 rs548178452 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19299794 19299795 rs574207765 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19299836 19299837 rs7278782 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.483852 0.088393 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2054.000000,2954.000000, 0.410144,0.589856, maf-5-some-pop,maf-5-all-pops 732 chr21 19299850 19299851 rs115202134 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19299886 19299887 rs762922283 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299908 19299909 rs770408925 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299919 19299920 rs2078347 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.05961 0.162024 intron exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 154.000000,4854.000000, 0.030751,0.969249, maf-5-some-pop 732 chr21 19299922 19299923 rs759109433 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299934 19299935 rs573158025 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19299962 19299963 rs767200926 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19299971 19299972 rs7278973 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,G, 50.000000,4958.000000, 0.009984,0.990016, 732 chr21 19299985 19299986 rs563767407 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19300015 19300016 rs191798456 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19300116 19300117 rs552682295 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19300145 19300146 rs140609420 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19300155 19300156 rs2824559 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.097727 0.198275 intron exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4750.000000,258.000000, 0.948482,0.051518, maf-5-some-pop 732 chr21 19300157 19300158 rs563535066 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300187 19300188 rs575314357 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19300188 19300189 rs113177469 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19300193 19300194 rs757886921 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19300209 19300210 rs183445320 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300230 19300231 rs150151619 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19300260 19300261 rs528477968 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300279 19300280 rs369778702 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19300313 19300314 rs765218017 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19300317 19300318 rs138576111 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19300351 19300352 rs866065500 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19300377 19300378 rs750582798 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19300391 19300392 rs188102205 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19300413 19300414 rs149329540 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19300431 19300432 rs774691258 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19300443 19300444 rs116427045 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19300457 19300458 rs550762857 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300478 19300479 rs569455270 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300520 19300521 rs868536131 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19300540 19300541 rs143585281 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19300550 19300551 rs373701137 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300552 19300553 rs570653223 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19300559 19300560 rs758493015 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19300580 19300581 rs544316689 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19300605 19300606 rs539276369 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19300637 19300638 rs553196515 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19300646 19300647 rs191752360 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19300669 19300670 rs137917409 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300680 19300681 rs143366550 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19300701 19300702 rs147138759 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19300713 19300722 rs573059284 0 + GATGCTGGG GATGCTGGG -/GATGCTGGG genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,GATGCTGGG, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19300717 19300718 rs373886472 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19300721 19300722 rs571144405 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19300732 19300733 rs140441216 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19300777 19300778 rs556755368 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300796 19300797 rs535440249 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19300797 19300798 rs867086980 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19300799 19300800 rs575102609 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300830 19300831 rs141194436 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19300852 19300853 rs755873773 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19300853 19300854 rs115232857 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19300866 19300867 rs182113669 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19300898 19300899 rs75222503 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 68.000000,4940.000000, 0.013578,0.986422, maf-5-some-pop 732 chr21 19300901 19300902 rs540135049 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19300943 19300943 rs761125379 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 732 chr21 19300994 19300995 rs565297159 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19301006 19301007 rs532374526 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19301026 19301027 rs544695182 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19301037 19301038 rs770925912 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301059 19301060 rs764350196 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19301095 19301096 rs544355253 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19301107 19301108 rs186587257 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19301129 19301130 rs73321557 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.116488 0.211364 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4697.000000,311.000000, 0.937899,0.062101, maf-5-some-pop 732 chr21 19301156 19301157 rs546087485 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301162 19301163 rs559947300 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301184 19301185 rs548844335 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301194 19301195 rs750493988 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19301198 19301199 rs567046410 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301245 19301246 rs528827279 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301427 19301428 rs191425033 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19301434 19301435 rs766312462 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19301460 19301461 rs552563978 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301463 19301464 rs571246227 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301468 19301468 rs530699814 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.005178 0.050619 intron between 1 1 1000GENOMES, 2 -,A, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19301526 19301527 rs868377785 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19301581 19301582 rs114382214 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19301584 19301585 rs114632833 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 47.000000,4961.000000, 0.009385,0.990615, 732 chr21 19301600 19301601 rs568653119 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301626 19301627 rs185661190 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301653 19301654 rs535940665 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19301657 19301658 rs777191629 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301726 19301727 rs150886043 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19301728 19301729 rs560519226 0 + G G -/G genomic deletion by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 -,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301731 19301732 rs572666989 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301741 19301742 rs370905697 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19301742 19301743 rs115278891 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19301752 19301753 rs139344937 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 69.000000,4939.000000, 0.013778,0.986222, 732 chr21 19301779 19301780 rs762404920 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301789 19301790 rs577176458 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301831 19301832 rs150066475 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19301861 19301862 rs145387291 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19301886 19301887 rs765777148 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301896 19301897 rs575011951 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19301918 19301919 rs542323934 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19301942 19301943 rs758536717 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19301956 19301957 rs560686488 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19301987 19301988 rs527861070 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19302024 19302025 rs552840901 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19302025 19302026 rs766411160 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302028 19302029 rs199904913 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 -,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19302034 19302035 rs751762182 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302042 19302043 rs564585868 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19302043 19302044 rs755254337 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302066 19302067 rs112643347 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.095575 0.196603 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4756.000000,252.000000, 0.949681,0.050320, maf-5-some-pop 732 chr21 19302097 19302098 rs550352988 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19302121 19302122 rs530891011 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19302133 19302144 rs149133865 0 + GGAGGGAGTGG GGAGGGAGTGG -/GGAGGGAGTGG genomic deletion by-cluster,by-frequency,by-1000genomes 0.43598 0.167067 intron range 1 8 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,GGAGGGAGTGG, 1608.000000,3400.000000, 0.321086,0.678914, maf-5-some-pop,maf-5-all-pops 732 chr21 19302149 19302160 rs370597452 0 + GAGTGGGGAGG GAGTGGGGAGG -/GAGTGGGGAGG genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19302196 19302197 rs1008443 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494442 0.052422 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 2768.000000,2240.000000, 0.552716,0.447284, maf-5-some-pop,maf-5-all-pops 732 chr21 19302267 19302268 rs757080874 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302331 19302332 rs533103801 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19302349 19302350 rs535977026 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19302387 19302388 rs190583613 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,WARNICH_LAB,WEILL_CORNELL_DGM, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19302404 19302405 rs778927675 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302410 19302411 rs566333426 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19302420 19302421 rs377505677 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19302445 19302446 rs140026343 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19302452 19302453 rs745326940 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302466 19302467 rs577109916 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19302481 19302482 rs771576899 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302496 19302497 rs538120160 0 + G G C/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19302545 19302546 rs774910254 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302557 19302558 rs111909798 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19302565 19302566 rs556626328 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19302569 19302570 rs574848800 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19302586 19302587 rs746644741 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302606 19302607 rs112711045 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19302607 19302608 rs143639673 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19302658 19302659 rs560526712 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19302685 19302686 rs146784661 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19302689 19302690 rs193012334 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19302700 19302701 rs564700583 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19302710 19302711 rs546526195 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19302720 19302720 rs139180144 0 + - - -/CCA genomic insertion by-cluster,by-frequency,by-1000genomes 0.424968 0.178567 intron between 1 9 1000GENOMES,BL,DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,CCA, 3474.000000,1534.000000, 0.693690,0.306310, maf-5-some-pop 732 chr21 19302721 19302721 rs34587624 0 + - - -/CAC/CCA genomic insertion by-cluster 0 0 intron between 1 2 PJP,TISHKOFF, 0 732 chr21 19302725 19302725 rs145628009 0 + - - -/CAC genomic insertion unknown 0 0 intron between 1 1 PJP, 0 732 chr21 19302727 19302727 rs397762113 0 + - - -/CAC genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 ABI,BCMHGSC_JDW,HUMANGENOME_JCVI, 1 CAC, 2.000000, 1.000000, 732 chr21 19302749 19302750 rs73321558 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075947 0.179459 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 198.000000,4810.000000, 0.039537,0.960463, maf-5-some-pop 732 chr21 19302759 19302760 rs562166350 0 + T T A/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19302793 19302794 rs866055814 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19302808 19302809 rs762292371 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19302830 19302831 rs200706239 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19302866 19302867 rs200635181 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 -,C, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19302872 19302873 rs747876945 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19302878 19302887 rs141294673 0 + TTCCTATCA TTCCTATCA -/TTCCTATCA genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 732 chr21 19302896 19302897 rs7277168 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,G, 4940.000000,68.000000, 0.986422,0.013578, 732 chr21 19302941 19302942 rs547889593 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19302980 19302981 rs566270087 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19303014 19303015 rs773740382 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19303032 19303033 rs113308718 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 A,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19303059 19303060 rs116076904 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19303128 19303129 rs570607931 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19303136 19303137 rs763421050 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19303168 19303169 rs555793697 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19303202 19303203 rs537763127 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19303215 19303216 rs556471479 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19303216 19303217 rs2824560 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.493837 0.055168 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2226.000000,2782.000000, 0.444489,0.555511, maf-5-some-pop,maf-5-all-pops 732 chr21 19303244 19303245 rs143694087 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19303267 19303268 rs185196643 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19303268 19303269 rs188533764 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19303269 19303270 rs546258792 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19303278 19303279 rs151199501 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19303279 19303280 rs113767103 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19303423 19303424 rs374133745 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19303432 19303433 rs113441732 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19303454 19303455 rs11910312 0 + C C C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.024903 0.10918 intron exact 1 SingleClassTriAllelic 5 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL, 3 C,G,T, 4945.000000,16.000000,47.000000, 0.987420,0.003195,0.009385, 732 chr21 19303455 19303456 rs529532906 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19303458 19303459 rs751707110 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19303462 19303463 rs140255661 0 + C C C/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,G, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19303483 19303484 rs367756559 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19303535 19303536 rs759691185 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19303578 19303579 rs181339925 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19303597 19303598 rs527428355 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19303615 19303616 rs552212972 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19303635 19303636 rs767743754 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19303641 19303642 rs13046327 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.425277 0.178263 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3472.000000,1536.000000, 0.693291,0.306709, maf-5-some-pop 732 chr21 19303644 19303645 rs185806355 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19303678 19303679 rs150377136 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19303700 19303701 rs568407052 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19303742 19303743 rs75834006 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4838.000000,170.000000, 0.966054,0.033946, maf-5-some-pop 732 chr21 19303784 19303785 rs78080398 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19303787 19303788 rs76969078 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19303826 19303827 rs116196142 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19303837 19303838 rs555383651 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19303855 19303856 rs539565051 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19303865 19303866 rs138236533 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19303926 19303927 rs374012325 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19303956 19303957 rs750349013 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304010 19304014 rs537857742 0 + AAAA AAAA -/AAAA genomic deletion by-cluster 0 0 intron range 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304016 19304020 rs374440098 0 + AGAC AGAC -/AGAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron range 1 2 1000GENOMES,LUNTER, 2 -,AGAC, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19304023 19304024 rs143719832 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19304024 19304025 rs576570452 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304073 19304074 rs758324911 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304084 19304085 rs779704425 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304093 19304094 rs112225295 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19304105 19304106 rs746522027 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304122 19304123 rs112761858 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19304166 19304167 rs557796606 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304173 19304174 rs577665189 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19304214 19304215 rs575738463 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19304225 19304226 rs543648286 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19304240 19304241 rs111550565 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19304255 19304256 rs546373428 0 + C C A/C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassQuadAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 rs-cluster-nonoverlapping-alleles 732 chr21 19304295 19304296 rs747796386 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304302 19304303 rs747360167 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19304304 19304305 rs76691073 0 + A A A/G genomic single by-cluster 0.277778 0.248452 intron exact 1 2 ENSEMBL,GMI, 2 A,G, 5.000000,1.000000, 0.833333,0.166667, 732 chr21 19304340 19304341 rs555537167 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19304344 19304345 rs770174663 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304430 19304433 rs553328244 0 + AAT AAT -/AAT genomic deletion by-cluster 0 0 intron range 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304431 19304432 rs112145630 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304441 19304442 rs541308882 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304445 19304446 rs566722939 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19304457 19304458 rs559905347 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19304461 19304462 rs527249645 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304493 19304494 rs545586104 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19304503 19304504 rs564170545 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304514 19304515 rs539582807 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 -,A, 17.000000,4991.000000, 0.003395,0.996605, 732 chr21 19304516 19304517 rs112956887 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19304520 19304521 rs35832673 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19304543 19304544 rs531427134 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19304585 19304586 rs145802195 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304602 19304603 rs568241033 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304618 19304619 rs138636609 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19304621 19304622 rs547636161 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19304623 19304624 rs773510768 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304642 19304643 rs181034769 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19304653 19304654 rs111944324 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 intron exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4765.000000,243.000000, 0.951478,0.048522, maf-5-some-pop 732 chr21 19304662 19304663 rs116933515 0 + C C C/T genomic single by-cluster,by-1000genomes 0.016528 0.089391 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 119.000000,1.000000, 0.991667,0.008333, 732 chr21 19304663 19304664 rs551476013 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19304665 19304666 rs149277673 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19304706 19304707 rs867402392 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19304715 19304716 rs759631576 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304745 19304746 rs537124865 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304767 19304768 rs776958774 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19304789 19304790 rs187373617 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304816 19304817 rs767682491 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304820 19304821 rs866299764 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19304823 19304824 rs573859242 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19304853 19304854 rs535004708 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304860 19304861 rs553582353 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19304877 19304878 rs752882887 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304893 19304894 rs112519200 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 732 chr21 19304907 19304908 rs191996056 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19304908 19304909 rs765066952 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19304922 19304923 rs59069772 0 + C C -/C genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 16 1000GENOMES,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19304924 19304925 rs796476014 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19304934 19304935 rs2142322 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49306 0.058496 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSAHASNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2799.000000,2209.000000, 0.558906,0.441094, maf-5-some-pop,maf-5-all-pops 732 chr21 19304985 19304986 rs576235205 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305046 19305047 rs371881654 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19305058 19305059 rs148143460 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4765.000000,243.000000, 0.951478,0.048522, maf-5-some-pop 732 chr21 19305119 19305120 rs183538502 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305160 19305161 rs529071156 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19305163 19305164 rs866449074 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19305170 19305171 rs547378246 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305199 19305200 rs370009385 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19305232 19305233 rs186863028 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19305236 19305237 rs533072512 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19305259 19305260 rs190612090 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19305268 19305269 rs569697432 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19305276 19305277 rs113863581 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19305284 19305285 rs141920252 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4765.000000,243.000000, 0.951478,0.048522, maf-5-some-pop 732 chr21 19305290 19305291 rs754506521 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19305342 19305343 rs762960109 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19305384 19305385 rs549034376 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19305400 19305401 rs567520663 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305401 19305402 rs535181016 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305403 19305404 rs553285048 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19305405 19305406 rs578229934 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19305408 19305409 rs28797200 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.109108 0.206518 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4718.000000,290.000000, 0.942093,0.057907, maf-5-some-pop 732 chr21 19305436 19305437 rs112528991 0 + C C C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 1.000000, 1.000000, 732 chr21 19305453 19305454 rs866014039 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19305454 19305455 rs557770165 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305455 19305456 rs576074683 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305462 19305463 rs543564484 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305473 19305474 rs182481792 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19305497 19305498 rs140202825 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19305500 19305501 rs143886455 0 + G G G/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 G,T, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19305502 19305503 rs769403399 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19305521 19305522 rs751565507 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19305524 19305525 rs559260589 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19305586 19305587 rs376827487 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19305594 19305595 rs187169902 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19305605 19305606 rs778136307 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19305606 19305607 rs551349749 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19305629 19305630 rs533306021 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19305650 19305651 rs28800646 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.095216 0.196321 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 251.000000,4757.000000, 0.050120,0.949880, maf-5-some-pop 732 chr21 19305701 19305702 rs754738188 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19305725 19305726 rs530764427 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19305746 19305747 rs368789249 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19305759 19305760 rs566580087 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19305774 19305775 rs771381800 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19305794 19305795 rs549072907 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305826 19305827 rs191281000 0 + A A A/C genomic single by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 1 1000GENOMES, 2 A,C, 4978.000000,30.000000, 0.994010,0.005990, 732 chr21 19305833 19305834 rs528577397 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305834 19305835 rs547200979 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305858 19305859 rs113158556 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19305860 19305861 rs774866242 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19305862 19305863 rs767351218 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19305863 19305863 rs560857512 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19305864 19305864 rs532221368 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19305865 19305866 rs571734542 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19305907 19305908 rs539335120 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19305924 19305925 rs746410517 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19305930 19305931 rs182576523 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19305952 19305953 rs569672477 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19305962 19305963 rs537005766 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19305964 19305965 rs139235193 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 0 732 chr21 19305979 19305980 rs111860951 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19305986 19305990 rs75576105 0 + TCTT TCTT -/TCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.423257 0.180228 intron range 1 MixedObserved 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,PJP,SSMP, 2 -,TCTT, 1523.000000,3485.000000, 0.304113,0.695887, maf-5-some-pop 732 chr21 19305986 19305987 rs754096092 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19305991 19305995 rs201124791 0 + CTTT CTTT -/CTTT genomic deletion unknown 0 0 intron range 1 5 BCMHGSC_JDW,GMI,HUMANGENOME_JCVI,PJP,TISHKOFF, 0 732 chr21 19306010 19306011 rs555398353 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19306066 19306067 rs188882601 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19306079 19306080 rs150011946 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 42.000000,4966.000000, 0.008387,0.991613, 732 chr21 19306082 19306083 rs145222434 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19306104 19306105 rs775602285 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19306123 19306124 rs8126658 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.494568 0.051833 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2765.000000,2243.000000, 0.552117,0.447883, maf-5-some-pop,maf-5-all-pops 732 chr21 19306179 19306180 rs545288860 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19306189 19306190 rs563199223 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19306209 19306210 rs142636855 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 G,T, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19306229 19306230 rs542662034 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19306230 19306231 rs777293578 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19306238 19306239 rs544365643 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19306247 19306248 rs201938863 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19306248 19306249 rs764224709 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19306259 19306260 rs564570666 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19306260 19306261 rs560927142 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19306263 19306264 rs528622883 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19306268 19306269 rs546744709 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19306307 19306308 rs578050165 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19306361 19306361 rs560435565 0 + - - -/A/AA genomic insertion by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 intron between 1 InconsistentAlleles 2 1000GENOMES,SSIP, 2 -,AA, 4717.000000,291.000000, 0.941893,0.058107, maf-5-some-pop 732 chr21 19306364 19306365 rs532552332 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19306372 19306373 rs77694470 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 732 chr21 19306388 19306389 rs112405064 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.114738 0.210248 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 306.000000,4702.000000, 0.061102,0.938898, maf-5-some-pop 732 chr21 19306424 19306425 rs569616380 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19306449 19306450 rs536922156 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19306460 19306461 rs369243105 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19306489 19306490 rs773002095 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19306536 19306537 rs547753305 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19306550 19306551 rs199920113 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19306551 19306552 rs71189568 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 10 BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP, 1 -, 2.000000, 1.000000, 732 chr21 19306551 19306552 rs201073628 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19306551 19306551 rs539892023 0 + - - -/AA genomic insertion by-frequency,by-1000genomes 0.093057 0.194599 intron between 1 1 1000GENOMES, 2 -,AA, 4763.000000,245.000000, 0.951078,0.048922, maf-5-some-pop 732 chr21 19306553 19306554 rs555436904 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19306560 19306562 rs869104953 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 732 chr21 19306561 19306562 rs78210441 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19306561 19306561 rs575052353 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.012304 0.077462 intron between 1 MixedObserved 1 1000GENOMES, 2 -,C, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19306562 19306563 rs13051213 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.438386 0.164349 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3383.000000,1625.000000, 0.675519,0.324481, maf-5-some-pop,maf-5-all-pops 732 chr21 19306563 19306563 rs58780393 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 732 chr21 19306571 19306572 rs537792972 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19306638 19306639 rs185159966 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19306648 19306649 rs552743628 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19306656 19306657 rs557513262 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19306676 19306677 rs544841626 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19306729 19306730 rs188982256 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19306746 19306747 rs201264361 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19306747 19306747 rs142940956 0 + - - -/CT/CTCT genomic insertion by-cluster,by-frequency,by-1000genomes 0.437118 0.165792 intron between 1 InconsistentAlleles 8 1000GENOMES,BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,CTCT, 3392.000000,1616.000000, 0.677316,0.322684, maf-5-some-pop,maf-5-all-pops 732 chr21 19306754 19306754 rs72331280 0 + - - -/CTCT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 732 chr21 19306761 19306762 rs756881819 0 + C C C/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 732 chr21 19306761 19306761 rs200939093 0 + - - -/CTCC genomic insertion by-1000genomes 0 0 intron between 1 MixedObserved 1 1000GENOMES, 0 732 chr21 19306762 19306763 rs751520331 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19306764 19306764 rs71189569 0 + - - -/TCT/TCTC genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 BCMHGSC_JDW,GMI,HUMANGENOME_JCVI, 1 TCTC, 2.000000, 1.000000, 732 chr21 19306765 19306766 rs575188372 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19306821 19306822 rs542500213 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19306822 19306823 rs760092461 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 732 chr21 19306823 19306827 rs145488189 0 + TTCT TTCT -/TTCT genomic deletion by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron range 1 2 1000GENOMES,LUNTER, 2 -,TTCT, 28.000000,4980.000000, 0.005591,0.994409, 732 chr21 19306846 19306847 rs192289477 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19306934 19306935 rs184138852 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19306950 19306951 rs562772704 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19306971 19306972 rs188858864 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19307000 19307001 rs755026399 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307002 19307003 rs565194708 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19307069 19307070 rs370256650 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 -,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19307086 19307087 rs767133107 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307087 19307088 rs780698336 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19307100 19307101 rs532630210 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19307130 19307130 rs34006790 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19307159 19307160 rs180716094 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19307214 19307215 rs563055626 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19307262 19307263 rs374056327 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19307263 19307264 rs77104406 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 5 1000GENOMES,CHURCH_CG54K,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, maf-5-some-pop 732 chr21 19307314 19307315 rs774178024 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307352 19307352 rs34715531 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19307400 19307401 rs571307367 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19307420 19307421 rs147610242 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19307425 19307426 rs752156050 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307465 19307466 rs755738664 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307477 19307478 rs777316049 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307486 19307487 rs534280572 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19307505 19307506 rs546563604 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19307587 19307588 rs190527064 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19307590 19307591 rs376744680 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19307604 19307605 rs868304811 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19307605 19307606 rs533681861 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19307625 19307626 rs867239163 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19307687 19307688 rs142301103 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19307748 19307749 rs749621155 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307752 19307753 rs182012290 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19307775 19307776 rs757582199 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307814 19307815 rs60985998 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076315 0.179815 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 199.000000,4809.000000, 0.039736,0.960264, maf-5-some-pop 732 chr21 19307878 19307879 rs553509139 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19307879 19307884 rs573072791 0 + TAATT TAATT -/TAATT genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307891 19307892 rs186413104 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19307895 19307896 rs746359301 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19307897 19307898 rs146101440 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19307898 19307899 rs542032913 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19307910 19307911 rs868269491 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19307977 19307978 rs138676964 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19307990 19307991 rs772631697 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19308013 19308014 rs573201324 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19308030 19308031 rs867055867 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19308098 19308099 rs540310788 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19308118 19308119 rs374566402 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19308143 19308144 rs377576458 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19308154 19308155 rs867390183 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19308183 19308184 rs370084703 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19308186 19308187 rs373833969 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19308208 19308209 rs544683502 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19308235 19308236 rs555598639 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19308288 19308289 rs563096865 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19308290 19308291 rs530268206 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19308293 19308294 rs575580527 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19308341 19308342 rs548905117 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19308353 19308354 rs73210365 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 9 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 49.000000,4959.000000, 0.009784,0.990216, 732 chr21 19308388 19308389 rs34725799 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.239902 0.249796 intron exact 1 15 1000GENOMES,BGI,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 4310.000000,698.000000, 0.860623,0.139377, maf-5-some-pop 732 chr21 19308389 19308390 rs397692644 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19308396 19308397 rs527981161 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19308397 19308398 rs866845771 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19308400 19308401 rs546309437 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19308470 19308471 rs796752373 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19308480 19308481 rs140051903 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19308484 19308485 rs190468411 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19308497 19308498 rs538365454 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19308520 19308521 rs768873766 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19308556 19308557 rs776686059 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19308599 19308600 rs550235646 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19308636 19308637 rs746304402 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19308639 19308640 rs568714958 0 + C C C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19308670 19308671 rs150324428 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19308673 19308674 rs2824561 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.438946 0.163706 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3379.000000,1629.000000, 0.674720,0.325280, maf-5-some-pop,maf-5-all-pops 732 chr21 19308723 19308724 rs766264655 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19308735 19308736 rs540379390 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,C, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19308780 19308781 rs374457651 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WARNICH_LAB, 0 732 chr21 19308781 19308781 rs71318109 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.419776 0.18351 intron between 1 6 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,SSMP, 2 -,A, 3507.000000,1501.000000, 0.700280,0.299720, maf-5-some-pop,maf-5-all-pops 732 chr21 19308794 19308795 rs11294493 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19308805 19308806 rs181717029 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19308815 19308816 rs2824562 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.493013 0.058691 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2208.000000,2800.000000, 0.440895,0.559105, maf-5-some-pop,maf-5-all-pops 732 chr21 19308831 19308832 rs375009119 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19308846 19308847 rs544718353 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19308859 19308860 rs562926771 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19308881 19308882 rs574975157 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19308933 19308934 rs185290952 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19308979 19308980 rs191212282 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19308986 19308987 rs182659715 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19308994 19308995 rs752205886 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309036 19309037 rs8127725 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.49306 0.058496 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2209.000000,2799.000000, 0.441094,0.558906, maf-5-some-pop,maf-5-all-pops 732 chr21 19309086 19309087 rs528011298 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19309089 19309090 rs767471934 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19309113 19309114 rs372596472 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19309114 19309115 rs763696522 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309141 19309142 rs753407050 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309142 19309143 rs375790041 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19309150 19309151 rs138007691 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19309154 19309155 rs531934740 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19309162 19309163 rs550270386 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19309163 19309164 rs149482146 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19309197 19309198 rs568653082 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19309244 19309245 rs60503746 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19309251 19309252 rs866108558 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19309273 19309274 rs779241972 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309291 19309292 rs187664076 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19309295 19309296 rs548118364 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19309312 19309313 rs529060298 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 732 chr21 19309325 19309326 rs113085502 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.075947 0.179459 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4810.000000,198.000000, 0.960463,0.039537, maf-5-some-pop 732 chr21 19309329 19309330 rs758842869 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309338 19309339 rs533865557 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19309339 19309340 rs780447150 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309397 19309398 rs113469639 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 732 chr21 19309398 19309399 rs570789599 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.324619 0.238604 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,A, 1021.000000,3987.000000, 0.203874,0.796126, maf-5-some-pop,maf-5-all-pops 732 chr21 19309398 19309398 rs71318110 0 + - - -/AAA genomic insertion unknown 0.5 0 intron between 1 MixedObserved 1 HUMANGENOME_JCVI, 2 -,AAA, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19309417 19309417 rs71189570 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 AAA, 2.000000, 1.000000, 732 chr21 19309421 19309422 rs200714529 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19309436 19309437 rs191132924 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19309454 19309455 rs60379490 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,HGSV,SSMP, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19309491 19309492 rs747070822 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309507 19309508 rs538281036 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19309509 19309510 rs768596226 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309546 19309547 rs183804015 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19309564 19309565 rs575012082 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19309608 19309609 rs73321579 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075947 0.179459 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4810.000000,198.000000, 0.960463,0.039537, maf-5-some-pop 732 chr21 19309618 19309619 rs554089499 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19309638 19309639 rs748377982 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309653 19309654 rs74921506 0 + C C A/C genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,ENSEMBL, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19309699 19309700 rs112538464 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19309705 19309706 rs62212963 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19309732 19309733 rs549205232 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19309754 19309755 rs114481449 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 732 chr21 19309778 19309779 rs770146700 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19309796 19309797 rs564398677 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19309816 19309817 rs142259872 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19309845 19309846 rs562766215 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19309887 19309888 rs865949556 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19309890 19309891 rs543852295 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19309915 19309916 rs2824563 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.437965 0.164831 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1622.000000,3386.000000, 0.323882,0.676118, maf-5-some-pop,maf-5-all-pops 732 chr21 19309919 19309919 rs36043915 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19309937 19309938 rs529766924 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19309962 19309963 rs548238611 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19309966 19309967 rs566552288 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19310048 19310049 rs549814957 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 -,T, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19310051 19310052 rs146381140 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 17.000000,4991.000000, 0.003395,0.996605, 732 chr21 19310081 19310082 rs60475199 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 2 1000GENOMES,LUNTER, 2 -,T, 32.000000,4976.000000, 0.006390,0.993610, 732 chr21 19310084 19310085 rs796158025 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19310093 19310094 rs759430011 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19310124 19310125 rs374649036 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19310141 19310142 rs551337992 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19310164 19310165 rs192145185 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19310179 19310180 rs570804458 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19310206 19310207 rs772010247 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19310291 19310292 rs538114440 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19310308 19310309 rs763788801 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19310338 19310339 rs556632031 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19310381 19310382 rs568431772 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19310412 19310413 rs111300222 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19310424 19310425 rs753497076 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19310442 19310443 rs184544940 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19310445 19310445 rs36116403 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19310478 19310479 rs554194805 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19310526 19310527 rs572562449 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19310564 19310565 rs546418402 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19310577 19310578 rs187046431 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19310674 19310675 rs545934834 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19310678 19310679 rs576357916 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19310707 19310708 rs199690978 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19310708 19310708 rs753397923 0 + - - -/AG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19310709 19310710 rs200681271 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19310710 19310710 rs57915061 0 + - - -/AT/ATAT genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 9 1000GENOMES,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 0 732 chr21 19310713 19310713 rs201342223 0 + - - -/TATG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 732 chr21 19310722 19310722 rs397960511 0 + - - -/AT genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 732 chr21 19310726 19310727 rs543672804 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19310746 19310747 rs571180973 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19310756 19310757 rs867685135 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19310779 19310780 rs13049273 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19310808 19310813 rs777184058 0 + TTAAG TTAAG -/TTAAG genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 732 chr21 19310809 19310813 rs796144642 0 + TAAG TAAG -/TAAG genomic deletion unknown 0 0 intron range 1 1 PADH-LAB_SPU, 0 732 chr21 19310810 19310813 rs370022232 0 + AAG AAG -/AAG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 3 EVA_GENOME_DK,LUNTER,SSMP, 0 732 chr21 19310810 19310811 rs796605766 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 HAMMER_LAB, 0 732 chr21 19310810 19310810 rs759049348 0 + - - -/AAG genomic insertion unknown 0 0 intron between 1 MixedObserved 1 DDI, 0 732 chr21 19310813 19310816 rs796233423 0 + GAA GAA -/GAA genomic deletion unknown 0 0 intron range 1 DuplicateObserved 1 HAMMER_LAB, 0 732 chr21 19310813 19310813 rs771653276 0 + - - -/GAA genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 732 chr21 19310815 19310816 rs377136061 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 5 BILGI_BIOE,EVA_GENOME_DK,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 0 732 chr21 19310836 19310836 rs568193581 0 + - - -/CCAGGCTG genomic insertion by-frequency,by-1000genomes 0.010725 0.072438 intron between 1 1 1000GENOMES, 2 -,CCAGGCTG, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19310857 19310858 rs529143622 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,SSIP, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19310881 19310882 rs574327304 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19310887 19310888 rs541569148 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19310923 19310924 rs867654755 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19310957 19310958 rs375554968 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,GMI, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19310967 19310968 rs192749359 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19310994 19310995 rs552428025 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19310996 19310997 rs781566453 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19311030 19311031 rs369593972 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19311045 19311046 rs10854425 0 + G G C/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19311085 19311086 rs550073680 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19311088 19311089 rs568368388 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19311089 19311090 rs185003564 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19311098 19311099 rs11908747 0 + C C A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 CSHL-HAPMAP, 1 C, 420.000000, 1.000000, 732 chr21 19311107 19311109 rs780222570 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19311126 19311127 rs548915416 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19311128 19311129 rs778026069 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19311146 19311146 rs747254943 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19311180 19311181 rs189115081 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19311194 19311195 rs181061122 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19311199 19311199 rs140872942 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.139564 0.224285 intron between 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,T, 4630.000000,378.000000, 0.924521,0.075479, maf-5-some-pop 732 chr21 19311208 19311209 rs535804332 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19311329 19311330 rs547465969 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19311425 19311426 rs771166817 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19311489 19311490 rs34577587 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.391211 0.2063 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3672.000000,1336.000000, 0.733227,0.266773, maf-5-some-pop,maf-5-all-pops 732 chr21 19311502 19311503 rs562127032 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19311554 19311555 rs371070358 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19311563 19311564 rs150612492 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4968.000000,40.000000, 0.992013,0.007987, 732 chr21 19311567 19311568 rs537350302 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19311595 19311596 rs527279355 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19311600 19311601 rs531300870 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19311621 19311622 rs112719342 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19311630 19311631 rs541853617 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19311677 19311678 rs114691710 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19311713 19311714 rs144697926 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19311786 19311787 rs545882689 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19311793 19311794 rs184704106 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19311799 19311800 rs4818394 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.254385 0.249962 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4259.000000,749.000000, 0.850439,0.149561, maf-5-some-pop 732 chr21 19311812 19311813 rs189348199 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19311814 19311817 rs558449159 0 + AAT AAT -/AAT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 732 chr21 19311816 19311821 rs763831627 0 + TAAAG TAAAG -/TAAAG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19311829 19311833 rs748203003 0 + AATT AATT -/AATT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19311839 19311843 rs774304646 0 + TAAT TAAT -/TAAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19311844 19311848 rs375227761 0 + AAAC AAAC -/AAAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 2 1000GENOMES,SSMP, 2 -,AAAC, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19311855 19311856 rs562056373 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19311885 19311886 rs753503723 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19311895 19311896 rs755577801 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19311901 19311902 rs2824564 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.476052 0.106772 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1956.000000,3052.000000, 0.390575,0.609425, maf-5-some-pop,maf-5-all-pops 732 chr21 19311984 19311985 rs2824565 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.480931 0.095764 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2993.000000,2015.000000, 0.597644,0.402356, maf-5-some-pop,maf-5-all-pops 732 chr21 19312024 19312025 rs565921332 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19312030 19312031 rs111412628 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19312081 19312082 rs373974526 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19312097 19312098 rs551413980 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312099 19312100 rs569924439 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19312105 19312106 rs201363325 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 -,C, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19312115 19312116 rs537288299 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312117 19312118 rs368095960 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19312121 19312122 rs555535145 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312133 19312134 rs574300787 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312156 19312157 rs749898522 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19312166 19312167 rs73321585 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 244.000000,4764.000000, 0.048722,0.951278, maf-5-some-pop 732 chr21 19312182 19312183 rs8133049 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.139564 0.224285 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4630.000000,378.000000, 0.924521,0.075479, maf-5-some-pop 732 chr21 19312183 19312184 rs571919869 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19312220 19312221 rs545919764 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312231 19312232 rs749566347 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19312240 19312241 rs12482649 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.390651 0.206682 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1333.000000,3675.000000, 0.266174,0.733826, maf-5-some-pop,maf-5-all-pops 732 chr21 19312265 19312269 rs374451845 0 + AACA AACA -/AACA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19312269 19312270 rs775409007 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19312270 19312271 rs113643731 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19312284 19312285 rs112865899 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19312328 19312329 rs760522411 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19312340 19312341 rs111593666 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19312343 19312344 rs768640718 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19312373 19312374 rs12482835 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.391397 0.206172 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3671.000000,1337.000000, 0.733027,0.266973, maf-5-some-pop,maf-5-all-pops 732 chr21 19312446 19312447 rs543688738 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312449 19312450 rs561711650 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19312457 19312458 rs756482098 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19312475 19312476 rs529222316 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312485 19312486 rs181383265 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19312500 19312501 rs531609274 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19312524 19312525 rs73321586 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.087272 0.189788 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4779.000000,229.000000, 0.954273,0.045727, maf-5-some-pop 732 chr21 19312530 19312531 rs533115487 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19312536 19312537 rs551357665 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312555 19312556 rs534154326 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 JMKIDD_LAB, 0 732 chr21 19312555 19312555 rs779118541 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 MixedObserved 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19312627 19312628 rs367671314 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19312630 19312631 rs569861216 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19312633 19312634 rs147621183 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19312681 19312682 rs549585219 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19312695 19312696 rs142135310 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19312696 19312697 rs1882921 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.129664 0.219133 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4659.000000,349.000000, 0.930312,0.069688, maf-5-some-pop 732 chr21 19312709 19312710 rs62212964 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 12 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 A,G, 4945.000000,63.000000, 0.987420,0.012580, 732 chr21 19312719 19312720 rs867080469 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19312730 19312731 rs144527529 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 C,T, 23.000000,4985.000000, 0.004593,0.995407, 732 chr21 19312767 19312768 rs539483530 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19312780 19312781 rs1882922 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.471958 0.115042 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3097.000000,1911.000000, 0.618411,0.381589, maf-5-some-pop,maf-5-all-pops 732 chr21 19312793 19312794 rs1882923 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.23846 0.249734 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 4315.000000,693.000000, 0.861621,0.138379, maf-5-some-pop 732 chr21 19312852 19312853 rs756235966 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19312861 19312862 rs185914916 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19312922 19312923 rs112293418 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 5 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19312926 19312927 rs148903006 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19312930 19312931 rs778044872 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19312939 19312940 rs573705900 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19312947 19312948 rs541326732 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19312992 19312993 rs559427667 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19313017 19313018 rs749505033 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19313018 19313019 rs2103479 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.449853 0.150196 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1711.000000,3297.000000, 0.341653,0.658347, maf-5-some-pop,maf-5-all-pops 732 chr21 19313089 19313090 rs545026285 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19313116 19313117 rs2824566 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.476052 0.106772 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1956.000000,3052.000000, 0.390575,0.609425, maf-5-some-pop,maf-5-all-pops 732 chr21 19313126 19313127 rs191304920 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19313135 19313136 rs143468595 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19313142 19313143 rs79879694 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19313160 19313161 rs569081817 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19313164 19313165 rs867229852 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19313182 19313183 rs140792926 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19313183 19313184 rs547164610 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19313185 19313186 rs2824567 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.474723 0.109542 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3067.000000,1941.000000, 0.612420,0.387580, maf-5-some-pop,maf-5-all-pops 732 chr21 19313186 19313187 rs866260670 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19313194 19313195 rs539317210 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19313203 19313204 rs376540182 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19313215 19313216 rs181193913 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19313219 19313220 rs748123440 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19313328 19313329 rs557822252 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19313344 19313345 rs144639149 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19313360 19313361 rs191843 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 2 KWOK,SC_JCM, 1 C, 420.000000, 1.000000, 732 chr21 19313386 19313387 rs551110176 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19313466 19313467 rs138967614 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19313469 19313470 rs2824568 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.391024 0.206427 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3673.000000,1335.000000, 0.733427,0.266573, maf-5-some-pop,maf-5-all-pops 732 chr21 19313475 19313476 rs527460647 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19313481 19313482 rs772776651 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19313493 19313494 rs186704203 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19313517 19313518 rs190739543 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19313544 19313545 rs142093267 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19313596 19313597 rs182476978 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19313602 19313603 rs143533476 0 + C C -/C genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19313603 19313604 rs67614147 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 PJP, 0 732 chr21 19313603 19313606 rs775081697 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19313604 19313606 rs778821479 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19313622 19313626 rs869050325 0 + TTTT TTTT -/TTTT genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 732 chr21 19313625 19313626 rs34255623 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19313647 19313648 rs113035309 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19313700 19313701 rs374934545 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19313738 19313739 rs111819216 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19313739 19313740 rs112611030 0 + G G A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 732 chr21 19313740 19313741 rs2824569 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.47666 0.105476 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3045.000000,1963.000000, 0.608027,0.391973, maf-5-some-pop,maf-5-all-pops 732 chr21 19313757 19313758 rs796800363 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19313776 19313781 rs75876564 0 + TTTTT TTTTT -/TTTTT genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 732 chr21 19313779 19313780 rs563362451 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19313781 19313782 rs78809218 0 + C C C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 T, 2.000000, 1.000000, 732 chr21 19313876 19313877 rs774532173 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19313909 19313910 rs187698416 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19313919 19313920 rs554246351 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19313921 19313922 rs60880301 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19313955 19313956 rs543118274 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19313961 19313962 rs549608481 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19313986 19313990 rs753414113 0 + CTAT CTAT -/CTAT genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 732 chr21 19314014 19314015 rs574162836 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19314036 19314037 rs528583540 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19314037 19314038 rs145789155 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19314040 19314041 rs191098193 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19314048 19314049 rs532874662 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19314049 19314050 rs551269402 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19314053 19314054 rs569676587 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19314081 19314082 rs868449080 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19314110 19314111 rs182936936 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19314149 19314150 rs2135144 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 732 chr21 19314190 19314191 rs562990251 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19314197 19314198 rs567274886 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19314214 19314215 rs534699705 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19314243 19314244 rs552764865 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19314262 19314263 rs376386246 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19314276 19314277 rs370814272 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19314278 19314279 rs187450258 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,HAMMER_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19314292 19314293 rs556798693 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19314347 19314348 rs138349388 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19314395 19314396 rs7284040 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.476918 0.104919 intron exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3042.000000,1966.000000, 0.607428,0.392572, maf-5-some-pop,maf-5-all-pops 732 chr21 19314401 19314402 rs756738933 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19314415 19314416 rs764262164 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19314439 19314440 rs372393178 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,SSMP, 2 -,A, 17.000000,4991.000000, 0.003395,0.996605, 732 chr21 19314451 19314452 rs561314384 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19314452 19314453 rs2824570 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.477004 0.104734 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3041.000000,1967.000000, 0.607228,0.392772, maf-5-some-pop,maf-5-all-pops 732 chr21 19314510 19314511 rs540690923 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19314533 19314534 rs193189716 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19314579 19314580 rs757361674 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19314624 19314625 rs779216692 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19314658 19314659 rs7279410 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.473726 0.111565 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1930.000000,3078.000000, 0.385383,0.614617, maf-5-some-pop,maf-5-all-pops 732 chr21 19314659 19314660 rs754770614 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19314680 19314681 rs568722214 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19314712 19314714 rs375484132 0 + GG GG -/GG genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 2 1000GENOMES,SSMP, 2 -,GG, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19314720 19314721 rs866052610 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19314727 19314728 rs781014412 0 + A A A/C/G genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19314731 19314732 rs149636260 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19314741 19314742 rs563219672 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19314762 19314763 rs182967288 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19314774 19314775 rs112112309 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19314794 19314795 rs188457207 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19314812 19314813 rs567219140 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19314825 19314826 rs144248343 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,GMI,JMKIDD_LAB,SSMP, 2 A,T, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19314831 19314832 rs7509644 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 732 chr21 19314914 19314915 rs746124550 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19314942 19314943 rs546241176 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19314971 19314972 rs148709457 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19315005 19315006 rs114794090 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19315019 19315020 rs560578507 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19315033 19315034 rs529663446 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19315066 19315067 rs770452307 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19315084 19315085 rs556735438 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315122 19315123 rs143127683 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19315141 19315142 rs536534681 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19315150 19315151 rs964766 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.014667 0.084371 intron exact 1 10 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19315158 19315159 rs573164783 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19315159 19315161 rs386816716 0 + GG GG GG/TT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 732 chr21 19315159 19315160 rs539847306 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19315160 19315161 rs556370384 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19315164 19315165 rs192158193 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19315171 19315172 rs73321594 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.055854 0.157504 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 144.000000,4864.000000, 0.028754,0.971246, maf-5-some-pop 732 chr21 19315184 19315185 rs147472996 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315199 19315200 rs571270973 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19315227 19315228 rs140509854 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19315263 19315264 rs542480284 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19315282 19315283 rs555147520 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19315324 19315325 rs569743218 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19315342 19315343 rs560723901 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315347 19315348 rs779946750 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19315358 19315359 rs761200853 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19315366 19315367 rs528046594 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315427 19315428 rs866019523 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19315440 19315441 rs546180625 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19315461 19315462 rs571058154 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19315472 19315473 rs531767680 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315479 19315480 rs571969831 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19315500 19315501 rs80301775 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 8 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 155.000000,4853.000000, 0.030950,0.969050, maf-5-some-pop 732 chr21 19315513 19315514 rs569002910 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19315514 19315514 rs34856415 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19315519 19315520 rs753814099 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19315544 19315545 rs183658866 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19315550 19315551 rs757390933 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19315577 19315578 rs554803986 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19315602 19315603 rs768422297 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19315659 19315660 rs369336162 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19315683 19315684 rs9305832 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497695 0.033867 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 2334.000000,2674.000000, 0.466054,0.533946, maf-5-some-pop,maf-5-all-pops 732 chr21 19315699 19315700 rs189181026 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19315705 19315706 rs144461847 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315714 19315715 rs544679694 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19315764 19315765 rs13051688 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.037988 0.132479 intron exact 1 16 1000GENOMES,ABI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4911.000000,97.000000, 0.980631,0.019369, 732 chr21 19315857 19315858 rs780897900 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19315859 19315860 rs574929483 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315869 19315870 rs1505266 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.496905 0.039215 intron exact 1 27 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2701.000000,2307.000000, 0.539337,0.460663, maf-5-some-pop,maf-5-all-pops 732 chr21 19315872 19315873 rs151193869 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19315940 19315941 rs755994570 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19315941 19315942 rs2824571 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.41275 0.189769 intron exact 1 26 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3550.000000,1458.000000, 0.708866,0.291134, maf-5-some-pop 732 chr21 19315942 19315943 rs192581064 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 732 chr21 19315974 19315975 rs184792728 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19315983 19315984 rs532096395 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19315996 19315997 rs536659867 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316026 19316026 rs34772954 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19316042 19316043 rs1505267 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497668 0.034066 intron exact 1 31 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2675.000000,2333.000000, 0.534145,0.465855, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19316050 19316051 rs562547526 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316078 19316079 rs201817273 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19316104 19316105 rs17451222 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055854 0.157504 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4864.000000,144.000000, 0.971246,0.028754, maf-5-some-pop 732 chr21 19316109 19316110 rs112990101 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19316133 19316134 rs548078135 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316195 19316196 rs9981199 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.12932 0.218944 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 348.000000,4660.000000, 0.069489,0.930511, maf-5-some-pop 732 chr21 19316198 19316199 rs189919271 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19316255 19316256 rs527933667 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19316261 19316262 rs139219669 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19316272 19316273 rs745533427 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316285 19316286 rs547749506 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19316310 19316311 rs182138093 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316318 19316319 rs771859318 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316374 19316375 rs538344695 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316387 19316388 rs775943076 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316388 19316389 rs544871843 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316390 19316391 rs759096804 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19316414 19316415 rs201426596 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19316415 19316415 rs113008640 0 + - - -/AGCC/CAGC genomic insertion by-cluster,by-frequency,by-1000genomes 0.499965 0.004193 intron between 1 InconsistentAlleles 14 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,AGCC, 2525.000000,2483.000000, 0.504193,0.495807, maf-5-some-pop,maf-5-all-pops 732 chr21 19316418 19316418 rs34412213 0 + - - -/CAGC genomic insertion by-cluster 0 0 intron between 1 4 ABI,BCMHGSC_JDW,GMI,TISHKOFF, 0 732 chr21 19316438 19316439 rs149952291 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 intron exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, 732 chr21 19316459 19316460 rs574826845 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316463 19316464 rs116134895 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.053593 0.154675 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4870.000000,138.000000, 0.972444,0.027556, maf-5-some-pop 732 chr21 19316482 19316483 rs572225791 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19316485 19316486 rs554052121 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316504 19316505 rs762277454 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316506 19316507 rs2135145 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.496245 0.043168 intron exact 1 27 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2721.000000,2287.000000, 0.543331,0.456669, maf-5-some-pop,maf-5-all-pops 732 chr21 19316528 19316529 rs4818395 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497803 0.033074 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2338.000000,2670.000000, 0.466853,0.533147, maf-5-some-pop,maf-5-all-pops 732 chr21 19316531 19316532 rs186333061 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19316551 19316552 rs112748935 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 8 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 732 chr21 19316553 19316554 rs766609340 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316561 19316562 rs13048751 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.39214 0.20566 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3667.000000,1341.000000, 0.732228,0.267772, maf-5-some-pop,maf-5-all-pops 732 chr21 19316578 19316579 rs373688976 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316616 19316617 rs533659408 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 4 1000GENOMES,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19316617 19316618 rs751579501 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19316623 19316624 rs1876036 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497803 0.033074 intron exact 1 23 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 2670.000000,2338.000000, 0.533147,0.466853, maf-5-some-pop,maf-5-all-pops 732 chr21 19316661 19316662 rs180701569 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19316664 19316665 rs560352022 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316693 19316694 rs527603714 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316765 19316766 rs781244584 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19316767 19316768 rs552453312 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19316800 19316801 rs570867292 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316801 19316802 rs753797141 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316806 19316807 rs538281346 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19316865 19316866 rs778422928 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19316899 19316900 rs549903336 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19316912 19316913 rs73321598 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055854 0.157504 intron exact 1 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4864.000000,144.000000, 0.971246,0.028754, maf-5-some-pop 732 chr21 19317000 19317001 rs532276634 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19317004 19317005 rs1876037 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499937 0.005591 intron exact 1 27 1000GENOMES,ABI,AFFY,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2476.000000,2532.000000, 0.494409,0.505591, maf-5-some-pop,maf-5-all-pops 732 chr21 19317012 19317013 rs373381305 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,SSIP,SSMP, 2 -,A, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19317018 19317019 rs144905101 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4948.000000,60.000000, 0.988019,0.011981, 732 chr21 19317045 19317046 rs9305833 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.185472 0.241529 intron exact 1 24 1000GENOMES,ABI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4490.000000,518.000000, 0.896565,0.103435, maf-5-some-pop,genotype-conflict 732 chr21 19317050 19317051 rs539750790 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317090 19317091 rs557991048 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317123 19317124 rs28571580 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.12932 0.218944 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 348.000000,4660.000000, 0.069489,0.930511, maf-5-some-pop 732 chr21 19317124 19317125 rs140755718 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19317131 19317132 rs562328128 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317164 19317165 rs548072705 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19317183 19317184 rs574487760 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19317202 19317203 rs541530071 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19317227 19317228 rs774109207 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19317253 19317254 rs560392512 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317264 19317265 rs62212965 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 10 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4947.000000,61.000000, 0.987819,0.012180, 732 chr21 19317279 19317280 rs762313589 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19317288 19317289 rs4564871 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.24019 0.249807 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4309.000000,699.000000, 0.860423,0.139577, maf-5-some-pop 732 chr21 19317297 19317298 rs564419650 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317300 19317301 rs140281588 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19317315 19317316 rs374918022 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19317319 19317320 rs550184897 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317342 19317343 rs568329895 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317371 19317371 rs34045487 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.490398 0.068621 intron between 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,A, 2851.000000,2157.000000, 0.569289,0.430711, maf-5-some-pop,maf-5-all-pops 732 chr21 19317379 19317379 rs397867836 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19317384 19317385 rs369286108 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19317422 19317423 rs9983826 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.5353 0.088775 intron exact 1 SingleClassTriAllelic 16 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 C,G,T, 194.000000,2529.000000,2285.000000, 0.038738,0.504992,0.456270, 732 chr21 19317455 19317456 rs565944901 0 + G G A/G genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 732 chr21 19317482 19317483 rs7280956 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,BCM_SSAHASNP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19317483 19317484 rs185399571 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317519 19317520 rs570045221 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19317526 19317526 rs71318112 0 + - - -/A/AA/AAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.493386 0.057126 intron between 1 InconsistentAlleles 5 1000GENOMES,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI, 2 -,AAA, 2216.000000,2792.000000, 0.442492,0.557508, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 732 chr21 19317540 19317540 rs71189571 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 732 chr21 19317542 19317543 rs370415836 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 732 chr21 19317542 19317542 rs398036180 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 AAA, 2.000000, 1.000000, 732 chr21 19317543 19317544 rs374183339 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19317544 19317545 rs62212966 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 732 chr21 19317547 19317548 rs34744569 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.392881 0.205147 intron exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3663.000000,1345.000000, 0.731430,0.268570, maf-5-some-pop,maf-5-all-pops 732 chr21 19317579 19317580 rs556142812 0 + G G G/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 G,T, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19317587 19317588 rs574302347 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19317616 19317617 rs541917118 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19317631 19317632 rs553950363 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317650 19317654 rs138816318 0 + AGAT AGAT -/AGAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron range 1 1 1000GENOMES, 2 -,AGAT, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19317656 19317665 rs750685088 0 + ATTTCTAAA ATTTCTAAA -/ATTTCTAAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19317663 19317664 rs572167523 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317675 19317676 rs189962736 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19317678 19317679 rs763435081 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19317692 19317693 rs541630606 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19317694 19317695 rs142019542 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 732 chr21 19317700 19317701 rs2824574 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.499995 0.001597 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 2512.000000,2496.000000, 0.501597,0.498403, maf-5-some-pop,maf-5-all-pops 732 chr21 19317706 19317707 rs543323490 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317742 19317743 rs115545349 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.053593 0.154675 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 138.000000,4870.000000, 0.027556,0.972444, maf-5-some-pop 732 chr21 19317749 19317750 rs529234484 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317768 19317769 rs79896362 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19317785 19317786 rs547379210 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19317802 19317803 rs565884829 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317882 19317883 rs540838064 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19317941 19317942 rs533235024 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317943 19317944 rs551573652 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19317948 19317949 rs150262492 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19317950 19317951 rs9636659 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497749 0.033471 intron exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2672.000000,2336.000000, 0.533546,0.466454, maf-5-some-pop,maf-5-all-pops 732 chr21 19318021 19318022 rs555743485 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19318041 19318042 rs567938378 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19318047 19318048 rs755087652 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19318102 19318103 rs529295301 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19318115 19318116 rs183319837 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19318120 19318121 rs765113473 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19318134 19318135 rs187649585 0 + A A A/G genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19318146 19318147 rs138727288 0 + T T A/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,T, 27.000000,4981.000000, 0.005391,0.994609, 732 chr21 19318147 19318148 rs756051291 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19318149 19318150 rs574441734 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19318173 19318174 rs749021104 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19318206 19318207 rs558006129 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19318209 19318210 rs114676006 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19318231 19318232 rs147456592 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19318262 19318263 rs770822722 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19318273 19318274 rs140024963 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19318280 19318280 rs778395500 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 732 chr21 19318378 19318378 rs149274678 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 BL, 0 732 chr21 19318438 19318440 rs201003258 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron range 1 2 1000GENOMES,GMI, 2 -,AA, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19318449 19318450 rs573878822 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19318460 19318461 rs779761458 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19318462 19318463 rs746646910 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19318463 19318464 rs371819107 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19318468 19318469 rs541057103 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19318471 19318472 rs754654888 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19318474 19318475 rs547205866 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19318488 19318489 rs559286011 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19318500 19318501 rs567115464 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19318504 19318505 rs533270518 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19318505 19318506 rs536135513 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19318520 19318521 rs563914366 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19318529 19318530 rs113143865 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 32.000000,4976.000000, 0.006390,0.993610, 732 chr21 19318530 19318531 rs183700071 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19318541 19318542 rs748483546 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19318544 19318545 rs549550554 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19318548 19318549 rs567891171 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19318592 19318593 rs535319451 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19318595 19318596 rs547433116 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19318596 19318597 rs143906926 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19318607 19318608 rs113801106 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19318635 19318636 rs557527743 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19318651 19318652 rs60232659 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,WEILL_CORNELL_DGM, 2 C,T, 4908.000000,100.000000, 0.980032,0.019968, maf-5-some-pop 732 chr21 19318690 19318691 rs773559925 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19318692 19318693 rs536897333 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19318703 19318704 rs543007471 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19318719 19318720 rs555517961 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19318759 19318760 rs187830820 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19318797 19318798 rs540897455 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19318799 19318800 rs73321600 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19318819 19318820 rs577572883 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19318899 19318900 rs191756688 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19318915 19318916 rs73321601 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055854 0.157504 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 144.000000,4864.000000, 0.028754,0.971246, maf-5-some-pop 732 chr21 19318934 19318935 rs116627463 0 + T T C/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 732 chr21 19318938 19318939 rs563327060 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19318952 19318953 rs549345341 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19318977 19318980 rs201800663 0 + ATC ATC -/ATC genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19318978 19318981 rs142888921 0 + TCT TCT -/TCT genomic deletion by-cluster,by-frequency,by-1000genomes 0.497933 0.032082 intron range 1 14 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,WARNICH_LAB, 2 -,TCT, 2343.000000,2665.000000, 0.467851,0.532149, maf-5-some-pop,maf-5-all-pops 732 chr21 19318980 19318981 rs201123112 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19318980 19318984 rs774939815 0 + TTCT TTCT -/TTCT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_DECODE, 0 732 chr21 19318982 19318983 rs3073721 0 + C C -/C genomic deletion by-1000genomes 0 0 intron exact 1 MixedObserved 1 1000GENOMES, 0 732 chr21 19318982 19318983 rs377614113 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 732 chr21 19318982 19318985 rs869159113 0 + CTT CTT -/CTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TSC-CSHL, 0 732 chr21 19319011 19319012 rs148448534 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319019 19319020 rs182105541 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19319042 19319043 rs547269030 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19319064 19319065 rs142698594 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 732 chr21 19319096 19319097 rs539483429 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319101 19319102 rs150997136 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319132 19319133 rs369755409 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19319178 19319179 rs139969183 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19319182 19319183 rs774477685 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319204 19319205 rs555292357 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319240 19319241 rs186574872 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319245 19319246 rs770226659 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19319266 19319267 rs773838380 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19319306 19319307 rs759684645 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319314 19319315 rs28498962 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.105569 0.204058 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4728.000000,280.000000, 0.944089,0.055911, maf-5-some-pop 732 chr21 19319335 19319336 rs552887984 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319355 19319356 rs776441856 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319362 19319363 rs377509807 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19319402 19319403 rs375973611 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19319419 19319420 rs761546142 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319427 19319428 rs143205504 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19319479 19319480 rs765122381 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319492 19319493 rs750364835 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319500 19319501 rs556130996 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19319503 19319504 rs557308575 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319504 19319505 rs527846421 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19319513 19319514 rs543079722 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19319539 19319540 rs113017303 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19319578 19319579 rs423725 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.497933 0.032082 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2343.000000,2665.000000, 0.467851,0.532149, maf-5-some-pop,maf-5-all-pops 732 chr21 19319588 19319589 rs373382376 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19319737 19319738 rs434170 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.498059 0.03109 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2348.000000,2660.000000, 0.468850,0.531150, maf-5-some-pop,maf-5-all-pops 732 chr21 19319778 19319779 rs140303740 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 732 chr21 19319806 19319807 rs67300292 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.372794 0.217765 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1241.000000,3767.000000, 0.247804,0.752196, maf-5-some-pop,maf-5-all-pops 732 chr21 19319859 19319861 rs751855898 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319860 19319861 rs73321602 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 4 1000GENOMES,BUSHMAN,GMI,WEILL_CORNELL_DGM, 2 C,G, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 732 chr21 19319861 19319863 rs71189573 0 + AC AC -/AC genomic deletion by-cluster,by-frequency,by-1000genomes 0.625 0.125 intron range 1 InconsistentAlleles 6 1000GENOMES,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 3 -,ACAC,CA, 1.000000,1.000000,2.000000, 0.250000,0.250000,0.500000, 732 chr21 19319861 19319861 rs772055050 0 + - - -/AG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319863 19319863 rs746542459 0 + - - -/AC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19319882 19319884 rs34768313 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 2 ABI,HGSV, 0 732 chr21 19319884 19319884 rs796425048 0 + - - -/CA genomic insertion unknown 0 0 intron between 1 1 GMI, 0 732 chr21 19319942 19319943 rs530521665 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19319943 19319944 rs549020511 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19319955 19319956 rs417490 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.497933 0.032082 intron exact 1 22 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2343.000000,2665.000000, 0.467851,0.532149, maf-5-some-pop,maf-5-all-pops 732 chr21 19319974 19319975 rs191412369 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19319994 19319995 rs756409065 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320008 19320009 rs778166069 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320015 19320016 rs446234 0 - T T A/G genomic single by-cluster,by-frequency,by-1000genomes 0.498034 0.031288 intron exact 1 21 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2661.000000,2347.000000, 0.531350,0.468650, maf-5-some-pop,maf-5-all-pops 732 chr21 19320025 19320026 rs184666195 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320028 19320029 rs538890412 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320133 19320133 rs529267460 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19320152 19320153 rs557100135 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19320158 19320159 rs771428570 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320173 19320174 rs115079695 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19320187 19320188 rs189232531 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,MPI_MOLGEN, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19320190 19320191 rs796462548 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 732 chr21 19320195 19320196 rs59600048 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.372794 0.217765 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1241.000000,3767.000000, 0.247804,0.752196, maf-5-some-pop,maf-5-all-pops 732 chr21 19320208 19320209 rs573374020 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19320225 19320226 rs540859216 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19320230 19320231 rs578140309 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19320238 19320239 rs532874700 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19320247 19320248 rs544840143 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320270 19320271 rs371302263 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19320322 19320323 rs530567019 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19320325 19320326 rs113324896 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320350 19320351 rs567049507 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320359 19320360 rs190819850 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19320381 19320382 rs192809631 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19320407 19320408 rs571080344 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19320422 19320423 rs76804660 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19320441 19320442 rs693881 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498109 0.030693 intron exact 1 26 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2350.000000,2658.000000, 0.469249,0.530751, maf-5-some-pop,maf-5-all-pops 732 chr21 19320473 19320474 rs773209369 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320481 19320482 rs762917855 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320507 19320508 rs569048664 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19320581 19320582 rs576023718 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19320634 19320635 rs35727679 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.497722 0.033669 intron exact 1 14 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 2335.000000,2673.000000, 0.466254,0.533746, maf-5-some-pop,maf-5-all-pops 732 chr21 19320642 19320643 rs397867884 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 2 ABI,HGSV, 0 732 chr21 19320655 19320656 rs9647198 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.498109 0.030693 intron exact 1 23 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2658.000000,2350.000000, 0.530751,0.469249, maf-5-some-pop,maf-5-all-pops 732 chr21 19320769 19320770 rs1388514 0 + A A A/C genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 2 SC_JCM,TSC-CSHL, 1 A, 4.000000, 1.000000, 732 chr21 19320776 19320777 rs554983160 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320797 19320798 rs74678315 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043372 0.14073 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4894.000000,111.000000, 0.977822,0.022178, maf-5-some-pop 732 chr21 19320798 19320799 rs377487656 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001224 0.024713 intron exact 1 2 1000GENOMES,SSMP, 2 -,A, 3.000000,4894.000000, 0.000613,0.999387, 732 chr21 19320862 19320865 rs752874897 0 + GAG GAG -/GAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320876 19320877 rs534253704 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320897 19320898 rs758937540 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320926 19320927 rs777658783 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19320938 19320939 rs559352021 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19320948 19320949 rs185320606 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19320986 19320987 rs577323887 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19320996 19320997 rs749754767 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19321001 19321002 rs573020891 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19321011 19321011 rs35504008 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19321020 19321021 rs189459116 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19321033 19321034 rs767101194 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321131 19321132 rs181188421 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19321132 19321133 rs541634437 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19321136 19321137 rs561500083 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19321139 19321140 rs370095628 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 732 chr21 19321189 19321190 rs778041598 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321202 19321203 rs197581 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.295088 0.245901 intron exact 1 35 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4107.000000,901.000000, 0.820088,0.179912, maf-5-some-pop 732 chr21 19321209 19321210 rs757716728 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321212 19321213 rs550415127 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321226 19321227 rs149181137 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19321245 19321251 rs569628545 0 + CAAACC CAAACC -/CAAACC genomic deletion by-frequency,by-1000genomes 0.005178 0.050619 intron range 1 1 1000GENOMES, 2 -,CAAACC, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19321265 19321266 rs73323204 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4865.000000,143.000000, 0.971446,0.028554, maf-5-some-pop 732 chr21 19321330 19321331 rs546243082 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19321343 19321344 rs564747409 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19321352 19321353 rs532377787 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19321364 19321365 rs774715346 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19321464 19321465 rs28498850 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.139564 0.224285 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4630.000000,378.000000, 0.924521,0.075479, maf-5-some-pop 732 chr21 19321475 19321476 rs79427337 0 + A A A/T genomic single by-1000genomes 0.016528 0.089391 intron exact 1 1 1000GENOMES, 2 A,T, 119.000000,1.000000, 0.991667,0.008333, 732 chr21 19321478 19321479 rs780241111 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321507 19321508 rs143395910 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19321520 19321521 rs536142973 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19321560 19321561 rs747192053 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321571 19321572 rs117174906 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 25.000000,4983.000000, 0.004992,0.995008, 732 chr21 19321595 19321596 rs139399456 0 + A A A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19321619 19321620 rs538210773 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19321651 19321652 rs141849017 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19321695 19321696 rs773092757 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321751 19321752 rs368412096 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19321756 19321757 rs577261906 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19321769 19321770 rs770888459 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19321797 19321798 rs767842763 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19321803 19321804 rs370105995 0 + A A A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,TISHKOFF, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19321807 19321808 rs556463768 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19321846 19321847 rs147046045 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19321988 19321989 rs138275768 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19322001 19322002 rs143926519 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19322032 19322033 rs150632600 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19322102 19322102 rs577840274 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron between 1 2 1000GENOMES,EVA_DECODE, 2 -,G, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19322122 19322123 rs185840399 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19322196 19322197 rs565040179 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19322205 19322206 rs138035657 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19322237 19322238 rs550788429 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19322294 19322295 rs197582 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.498158 0.030295 intron exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2352.000000,2656.000000, 0.469649,0.530351, maf-5-some-pop,maf-5-all-pops 732 chr21 19322324 19322325 rs376681670 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19322391 19322392 rs548461040 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19322408 19322409 rs197583 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.498415 0.02811 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2363.000000,2645.000000, 0.471845,0.528155, maf-5-some-pop,maf-5-all-pops 732 chr21 19322409 19322410 rs188256560 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19322418 19322419 rs552581405 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19322546 19322547 rs570958423 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19322558 19322559 rs537916513 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19322563 19322564 rs181074879 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19322564 19322565 rs9983092 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.139564 0.224285 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 378.000000,4630.000000, 0.075479,0.924521, maf-5-some-pop 732 chr21 19322621 19322622 rs557873030 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19322632 19322633 rs187000004 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19322656 19322657 rs554085689 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19322677 19322678 rs572404250 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19322679 19322680 rs539870629 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19322696 19322697 rs376642997 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19322699 19322700 rs760184917 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19322707 19322708 rs868118399 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19322709 19322710 rs28660359 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSAHASNP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19322718 19322719 rs763762574 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19322721 19322722 rs754165705 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19322770 19322771 rs576888440 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19322810 19322812 rs3221037 0 + CA CA (CA)21/22/23/24/25 genomic microsatellite by-frequency 0.650704 0.134523 intron rangeInsertion 1 FlankMismatchGenomeLonger,InconsistentAlleles 1 GENETHON, 5 (CA)21,(CA)22,(CA)23,(CA)24,(CA)25, 26.992001,14.000000,1.008000,1.008000,12.992000, 0.482000,0.250000,0.018000,0.018000,0.232000, 732 chr21 19322848 19322851 rs776250684 0 + ACA ACA -/ACA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19322848 19322854 rs779960427 0 + ACACTT ACACTT -/ACACTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19322850 19322854 rs368261702 0 + ACTT ACTT -/ACTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 4 BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 0 732 chr21 19322850 19322851 rs543947558 0 + A A A/C genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 MixedObserved 2 1000GENOMES,EVA_GENOME_DK, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19322851 19322853 rs796513694 0 + CT CT -/CT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19322852 19322854 rs57653177 0 + TT TT -/TT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved,SingleAlleleFreq 10 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,SSMP, 1 -, 2.000000, 1.000000, 732 chr21 19322852 19322853 rs201214707 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19322852 19322852 rs200120318 0 + - - lengthTooLong genomic in-del by-cluster 0 0 intron between 1 MixedObserved,ObservedTooLong 4 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 rs-cluster-nonoverlapping-alleles 732 chr21 19322853 19322854 rs201824156 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19322861 19322862 rs197584 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.498059 0.03109 intron exact 1 15 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2348.000000,2660.000000, 0.468850,0.531150, maf-5-some-pop,maf-5-all-pops 732 chr21 19322923 19322924 rs369033420 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19322971 19322972 rs73323207 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4865.000000,143.000000, 0.971446,0.028554, maf-5-some-pop 732 chr21 19322986 19322987 rs757590074 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19322989 19322990 rs197585 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497387 0.036048 intron exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,CHURCH_CG54K,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 2685.000000,2323.000000, 0.536142,0.463858, maf-5-some-pop,maf-5-all-pops 732 chr21 19322992 19322993 rs560472206 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19323011 19323012 rs765091050 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19323020 19323021 rs192345026 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19323034 19323035 rs144026064 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19323107 19323108 rs750883216 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323145 19323146 rs552555538 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19323197 19323198 rs570727346 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19323198 19323199 rs531835448 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19323223 19323224 rs547957565 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19323268 19323269 rs183309989 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19323298 19323299 rs768958546 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323328 19323329 rs568532034 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19323344 19323345 rs369769464 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19323358 19323359 rs143459992 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19323362 19323363 rs781533940 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323366 19323367 rs187042828 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19323398 19323399 rs567884306 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19323424 19323428 rs3073722 0 + GTGT GTGT -/GTGT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 3 1000GENOMES,GMI,LUNTER, 0 732 chr21 19323424 19323430 rs71318115 0 + GTGTGT GTGTGT -/GTGTGT genomic deletion by-cluster 0.5 0 intron range 1 MixedObserved 5 BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER, 2 -,GTGTGT, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19323426 19323430 rs766492739 0 + GTGT GTGT -/GTGT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323450 19323456 rs71189574 0 + GTGTGT GTGTGT -/GTGTGT genomic deletion by-cluster 0 0 intron range 1 SingleAlleleFreq 2 BCMHGSC_JDW,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19323452 19323456 rs397838529 0 + GTGT GTGT -/GTGT genomic deletion unknown 0 0 intron range 1 2 HGSV,TSC-CSHL, 0 732 chr21 19323453 19323457 rs756262178 0 + TGTA TGTA -/TGTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323456 19323456 rs201757708 0 + - - -/GT/GTGTGT genomic insertion unknown 0 0 intron between 1 1 GMI, 0 732 chr21 19323457 19323457 rs755290766 0 + - - -/TGTA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323462 19323463 rs190598285 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19323484 19323485 rs750159581 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19323500 19323501 rs748427205 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323520 19323521 rs539711984 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19323541 19323542 rs558547063 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19323542 19323543 rs770835260 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323555 19323556 rs536866727 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323590 19323591 rs34157625 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19323631 19323632 rs146188875 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19323707 19323708 rs745722925 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323719 19323720 rs9975794 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.126909 0.217598 intron exact 1 17 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4667.000000,341.000000, 0.931909,0.068091, maf-5-some-pop 732 chr21 19323732 19323733 rs377442486 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19323843 19323844 rs774810012 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323851 19323852 rs760212380 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19323868 19323869 rs17835661 0 + C C A/C genomic single by-cluster,by-frequency 0.333267 0.235726 intron exact 1 MixedObserved 2 GMI,PERLEGEN, 2 A,C, 30.000000,112.000000, 0.211268,0.788732, maf-5-some-pop,maf-5-all-pops 732 chr21 19323868 19323869 rs142171619 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.372794 0.217765 intron exact 1 MixedObserved 13 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 1241.000000,3767.000000, 0.247804,0.752196, maf-5-some-pop,maf-5-all-pops 732 chr21 19323868 19323868 rs767026705 0 + - - -/C genomic insertion unknown 0 0 intron between 1 MixedObserved 1 DDI, 0 732 chr21 19323896 19323897 rs539414307 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19323922 19323923 rs556029403 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19323952 19323953 rs574560789 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19323982 19323983 rs553044441 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19324000 19324001 rs542078846 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19324008 19324009 rs182467148 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19324058 19324059 rs542608997 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 -,A, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19324133 19324134 rs763638020 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19324154 19324155 rs527605727 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19324155 19324156 rs545732890 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19324199 19324200 rs776247128 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19324225 19324226 rs371080236 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19324267 19324268 rs746715132 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19324275 19324276 rs73323210 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 732 chr21 19324336 19324337 rs531649916 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19324395 19324396 rs550146224 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19324429 19324430 rs568243903 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19324431 19324432 rs375713279 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19324475 19324476 rs79483456 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,T, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 732 chr21 19324484 19324485 rs572959984 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19324509 19324510 rs867264399 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19324510 19324511 rs867751582 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19324511 19324513 rs528563438 0 + AA AA -/AA genomic deletion by-frequency,by-1000genomes 0.49962 0.013773 intron range 1 MixedObserved 1 1000GENOMES, 2 -,AA, 2435.000000,2573.000000, 0.486222,0.513778, maf-5-some-pop,maf-5-all-pops 732 chr21 19324511 19324511 rs745928781 0 + - - -/AAAAA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 SSMP, 0 732 chr21 19324513 19324513 rs779625388 0 + - - -/AAAAAAAAAAAA genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 732 chr21 19324528 19324528 rs386394354 0 + - - -/AAAAA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 732 chr21 19324530 19324532 rs58511535 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 SingleAlleleFreq 3 HGSV,HUMANGENOME_JCVI,PJP, 1 -, 2.000000, 1.000000, 732 chr21 19324532 19324533 rs371263323 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 732 chr21 19324532 19324532 rs60941624 0 + - - -/AAAAA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 732 chr21 19324536 19324537 rs376104621 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19324556 19324557 rs117160970 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,ILLUMINA, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19324557 19324558 rs866503138 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19324631 19324632 rs539750680 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19324667 19324668 rs113004162 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19324694 19324695 rs113420378 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19324704 19324705 rs570323480 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19324737 19324738 rs537469194 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19324772 19324773 rs12626848 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.372995 0.217651 intron exact 1 25 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3766.000000,1242.000000, 0.751997,0.248003, maf-5-some-pop 732 chr21 19324782 19324783 rs747619290 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19324787 19324788 rs765583791 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19324793 19324794 rs574599830 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19324797 19324798 rs535513145 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19324828 19324829 rs554011792 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19324851 19324852 rs543644376 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19324856 19324857 rs750805099 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19324865 19324866 rs758774751 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19324967 19324968 rs563609684 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19324969 19324970 rs197586 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.259397 0.249823 intron exact 1 36 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4241.000000,767.000000, 0.846845,0.153155, maf-5-some-pop 732 chr21 19325078 19325079 rs564271477 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19325099 19325100 rs187160647 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19325130 19325131 rs774781204 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19325134 19325135 rs746233688 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19325135 19325136 rs752046044 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325147 19325148 rs543659472 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325148 19325149 rs368152348 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19325163 19325164 rs748373841 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325182 19325183 rs756407639 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325186 19325187 rs760926683 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19325187 19325188 rs561714484 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19325209 19325210 rs371135140 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19325221 19325222 rs547442328 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19325222 19325223 rs113962130 0 + G G C/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19325252 19325253 rs559533146 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19325277 19325278 rs533404115 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19325286 19325287 rs778510216 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325345 19325346 rs745694587 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325434 19325439 rs768788261 0 + ATAAT ATAAT -/ATAAT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19325436 19325437 rs551926504 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19325441 19325442 rs570287046 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19325449 19325450 rs771868450 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325450 19325451 rs189695649 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19325470 19325471 rs532736510 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19325483 19325484 rs578017215 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19325496 19325497 rs537713193 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19325522 19325523 rs549822690 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19325538 19325539 rs182859852 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19325540 19325545 rs758414004 0 + AACTC AACTC -/AACTC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325611 19325612 rs775470361 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325617 19325618 rs535553764 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19325632 19325633 rs776705334 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19325683 19325684 rs368461656 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19325722 19325723 rs553950353 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19325754 19325755 rs761811721 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19325784 19325784 rs564091665 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 1 1000GENOMES, 2 -,A, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19325786 19325787 rs546165521 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325812 19325813 rs572167906 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19325877 19325878 rs768144800 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325881 19325882 rs188612233 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19325906 19325907 rs776192200 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19325937 19325938 rs193268630 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19325940 19325941 rs542571758 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19325980 19325985 rs138859954 0 + TATAA TATAA -/TATAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TATAA, 40.000000,4968.000000, 0.007987,0.992013, 732 chr21 19325981 19325982 rs557919893 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19326015 19326016 rs372764702 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19326052 19326053 rs761391391 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19326065 19326066 rs576275132 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19326080 19326081 rs199837210 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19326155 19326156 rs543675433 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19326182 19326183 rs197587 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.498437 0.027912 intron exact 1 18 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,SC_JCM,SEQUENOM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2364.000000,2644.000000, 0.472045,0.527955, maf-5-some-pop,maf-5-all-pops 732 chr21 19326193 19326194 rs367663811 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19326195 19326196 rs371837025 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19326197 19326198 rs150945438 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 40.000000,4968.000000, 0.007987,0.992013, 732 chr21 19326199 19326200 rs140775674 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 732 chr21 19326218 19326219 rs376067249 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19326246 19326247 rs181945171 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 732 chr21 19326251 19326252 rs559445455 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19326280 19326281 rs551827811 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19326289 19326290 rs773400790 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19326293 19326294 rs866057953 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19326303 19326304 rs533447695 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19326304 19326305 rs185665807 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 732 chr21 19326316 19326318 rs762715809 0 + CT CT -/CT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19326317 19326318 rs548239257 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19326332 19326333 rs563875847 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19326333 19326334 rs2849908 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.498852 0.023934 intron exact 1 MixedObserved 12 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,T, 2384.000000,2624.000000, 0.476038,0.523962, maf-5-some-pop,maf-5-all-pops 732 chr21 19326333 19326335 rs200466485 0 + TT TT -/TT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 2 1000GENOMES,LUNTER, 0 732 chr21 19326333 19326334 rs567421269 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 SSIP, 0 732 chr21 19326334 19326335 rs2849909 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.496583 0.041192 intron exact 1 13 1000GENOMES,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,T, 2297.000000,2711.000000, 0.458666,0.541334, maf-5-some-pop,maf-5-all-pops 732 chr21 19326348 19326349 rs567950783 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19326431 19326432 rs868018157 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19326443 19326444 rs187468509 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19326570 19326571 rs767635865 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19326578 19326579 rs192319511 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19326579 19326580 rs149835873 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19326580 19326581 rs530695257 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19326605 19326606 rs373992394 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19326621 19326622 rs568223043 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19326658 19326659 rs539486313 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19326700 19326701 rs184161390 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19326750 19326751 rs569787852 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19326787 19326788 rs530691203 0 + G G C/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 732 chr21 19326800 19326801 rs536959912 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19326839 19326840 rs540413652 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19326859 19326860 rs73323211 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4866.000000,142.000000, 0.971645,0.028355, maf-5-some-pop 732 chr21 19326930 19326931 rs147926693 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19326979 19326980 rs2776078 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 18 1000GENOMES,BCMHGSC_JDW,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19326979 19326981 rs386816717 0 + AA AA AA/TT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19326980 19326981 rs2776079 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,BGI,BL,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19326996 19326997 rs578048614 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19327019 19327020 rs197588 0 + G G C/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19327024 19327025 rs563739167 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19327027 19327028 rs188696934 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19327128 19327130 rs548684681 0 + TC TC -/TC genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TC, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19327205 19327206 rs2638084 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.449853 0.150196 intron exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HGSV,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 1711.000000,3297.000000, 0.341653,0.658347, maf-5-some-pop,maf-5-all-pops 732 chr21 19327222 19327224 rs534394988 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.049433 0.149241 intron range 1 1 1000GENOMES, 2 -,AT, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 732 chr21 19327224 19327224 rs201326088 0 + - - -/ATA genomic insertion by-cluster,by-frequency,by-1000genomes 0.300169 0.244914 intron between 1 8 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,GMI,LUNTER,SSMP, 2 -,ATA, 921.000000,4087.000000, 0.183906,0.816094, maf-5-some-pop,maf-5-all-pops 732 chr21 19327226 19327226 rs56221551 0 + - - -/AAT genomic insertion by-cluster 0 0 intron between 1 3 BCMHGSC_JDW,GMI,HGSV, 0 732 chr21 19327466 19327467 rs55925464 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19327472 19327473 rs796967653 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19327476 19327477 rs758194743 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19327499 19327500 rs561595749 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19327524 19327525 rs528779796 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19327571 19327572 rs754596635 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19327582 19327583 rs372693751 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19327619 19327620 rs73323212 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF, 2 A,C, 4893.000000,115.000000, 0.977037,0.022963, maf-5-some-pop 732 chr21 19327631 19327632 rs532890337 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19327639 19327640 rs551417531 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19327654 19327655 rs779773006 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19327663 19327664 rs746948109 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19327694 19327695 rs569644259 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19327708 19327709 rs536896402 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19327728 19327729 rs768587000 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19327753 19327754 rs555124667 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19327832 19327833 rs553548611 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19327846 19327847 rs180709069 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19327850 19327851 rs534560297 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19327860 19327861 rs553115650 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19327929 19327930 rs780725467 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19327956 19327957 rs141890204 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19328058 19328059 rs11909593 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.006766 0.057769 intron exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ILLUMINA,KRIBB_YJKIM, 2 C,G, 17.000000,4991.000000, 0.003395,0.996605, 732 chr21 19328096 19328097 rs747680079 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19328101 19328102 rs147107517 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.038755 0.1337 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4909.000000,99.000000, 0.980232,0.019768, maf-5-some-pop 732 chr21 19328128 19328129 rs575647335 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19328156 19328157 rs772898685 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19328163 19328164 rs762569752 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19328192 19328193 rs771321171 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19328224 19328225 rs372690897 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19328302 19328303 rs73323213 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 A,C, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19328305 19328306 rs561427242 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19328307 19328308 rs774857450 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19328329 19328330 rs55669337 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19328330 19328331 rs184546457 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19328341 19328342 rs201831430 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19328429 19328430 rs528796283 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19328454 19328455 rs566881957 0 + G G A/C genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 732 chr21 19328467 19328468 rs190285332 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19328468 19328469 rs559099979 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19328500 19328501 rs532975943 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19328507 19328508 rs534453178 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19328525 19328526 rs197538 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.426507 0.177046 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1544.000000,3464.000000, 0.308307,0.691693, maf-5-some-pop 732 chr21 19328567 19328568 rs752240704 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19328592 19328596 rs771468623 0 + CTCA CTCA -/CTCA genomic deletion by-cluster 0 0 intron range 1 2 EVA_DECODE,SSMP, 0 732 chr21 19328596 19328600 rs145285986 0 + CTCT CTCT -/CTCT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 9 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,PJP, 0 732 chr21 19328599 19328600 rs563441330 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19328603 19328607 rs59983766 0 + TCTC TCTC -/TCTC genomic deletion by-cluster 0 0 intron range 1 3 BCMHGSC_JDW,HGSV,TISHKOFF, 0 732 chr21 19328604 19328608 rs199790242 0 + CTCA CTCA -/CTCA genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 732 chr21 19328604 19328605 rs530485234 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19328621 19328622 rs197539 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.442249 0.159814 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1653.000000,3355.000000, 0.330072,0.669928, maf-5-some-pop,maf-5-all-pops 732 chr21 19328627 19328628 rs567097457 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19328628 19328629 rs114611733 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19328653 19328654 rs115441368 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19328674 19328674 rs557179271 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19328680 19328681 rs571429894 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19328690 19328691 rs539071011 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19328700 19328701 rs760059928 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19328718 19328719 rs557069486 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19328762 19328763 rs575817643 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19328789 19328790 rs536696698 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19328852 19328853 rs779528099 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19328897 19328898 rs746423946 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19328961 19328962 rs555222335 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19328994 19328995 rs568875895 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19329047 19329047 rs543342430 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19329087 19329088 rs768155910 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19329128 19329129 rs138311924 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19329129 19329130 rs540453298 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19329178 19329179 rs565598117 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19329304 19329305 rs368304118 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19329309 19329310 rs197540 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499942 0.005391 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2531.000000,2477.000000, 0.505391,0.494609, maf-5-some-pop,maf-5-all-pops 732 chr21 19329316 19329317 rs760781721 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19329383 19329384 rs545001862 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19329384 19329385 rs143235266 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 732 chr21 19329398 19329399 rs530544182 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19329425 19329426 rs542390949 0 + G G C/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 732 chr21 19329451 19329452 rs548636430 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19329453 19329454 rs560636216 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19329461 19329462 rs555455631 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19329467 19329468 rs148334893 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19329474 19329475 rs141458701 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19329505 19329506 rs772724566 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19329513 19329514 rs9977154 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 732 chr21 19329519 19329520 rs9980662 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 732 chr21 19329524 19329525 rs200050425 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19329550 19329551 rs780522499 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19329562 19329563 rs150569885 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.038755 0.1337 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4909.000000,99.000000, 0.980232,0.019768, maf-5-some-pop 732 chr21 19329569 19329570 rs373057837 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19329657 19329658 rs868214609 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19329679 19329680 rs371692988 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19329691 19329692 rs569246220 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19329696 19329697 rs747338958 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19329706 19329707 rs536757115 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19329707 19329708 rs555132688 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19329733 19329734 rs575294010 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19329769 19329770 rs182285050 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19329775 19329776 rs377357386 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19329824 19329825 rs11910771 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.060734 0.163335 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 732 chr21 19329828 19329829 rs113628732 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,T, 4976.000000,32.000000, 0.993610,0.006390, 732 chr21 19329853 19329854 rs558872861 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19329861 19329862 rs114969510 0 + A A A/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,T, 4985.000000,23.000000, 0.995407,0.004593, 732 chr21 19329910 19329911 rs779759007 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19329928 19329929 rs544553587 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19329979 19329980 rs197541 0 + A A A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497776 0.033272 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 20 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 2671.000000,2337.000000, 0.533347,0.466653, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19330041 19330046 rs769815231 0 + ATAAA ATAAA -/ATAAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19330123 19330124 rs2824575 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.385741 0.209939 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3701.000000,1307.000000, 0.739018,0.260982, maf-5-some-pop 732 chr21 19330167 19330168 rs867231319 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19330198 19330199 rs200559134 0 + C C -/C genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19330199 19330200 rs197542 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493293 0.057518 intron exact 1 18 1000GENOMES,ABI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,KWOK,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2214.000000,2794.000000, 0.442093,0.557907, maf-5-some-pop,maf-5-all-pops 732 chr21 19330203 19330204 rs560697594 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19330210 19330211 rs201183938 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19330221 19330222 rs528164074 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19330222 19330223 rs28500 0 + C C C/G genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19330247 19330248 rs777213629 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19330253 19330254 rs73323216 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 732 chr21 19330289 19330290 rs138648666 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4969.000000,39.000000, 0.992212,0.007788, 732 chr21 19330299 19330300 rs375381768 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19330327 19330328 rs559632520 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19330392 19330393 rs528426652 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19330450 19330451 rs866849845 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19330461 19330462 rs190455387 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19330516 19330517 rs141866492 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4953.000000,55.000000, 0.989018,0.010982, 732 chr21 19330526 19330527 rs774804538 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19330529 19330530 rs567007847 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19330554 19330555 rs374702045 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19330593 19330594 rs760008573 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19330662 19330663 rs772601897 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19330729 19330730 rs181690936 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19330777 19330778 rs751301738 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19330801 19330802 rs117709749 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19330823 19330824 rs776121200 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19330829 19330830 rs73323218 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 MixedObserved 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 732 chr21 19330829 19330831 rs796666056 0 + TG TG CA/TG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 732 chr21 19330831 19330832 rs561056846 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19330852 19330853 rs146260329 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19330909 19330910 rs541822575 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19330919 19330919 rs768582211 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331005 19331006 rs185276567 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19331018 19331019 rs767197110 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19331046 19331047 rs190138656 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19331056 19331057 rs139098843 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331067 19331068 rs752336063 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19331108 19331109 rs376192030 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19331153 19331154 rs762037990 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331216 19331217 rs765468040 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331220 19331221 rs539921627 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19331248 19331249 rs565103984 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19331262 19331263 rs197543 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.372391 0.217992 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 1239.000000,3769.000000, 0.247404,0.752596, maf-5-some-pop 732 chr21 19331299 19331300 rs197544 0 + T T C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496999 0.038622 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 30 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2310.000000,2698.000000, 0.461262,0.538738, maf-5-some-pop,maf-5-all-pops 732 chr21 19331324 19331325 rs116677723 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,G, 4866.000000,142.000000, 0.971645,0.028355, maf-5-some-pop 732 chr21 19331338 19331339 rs202013561 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19331373 19331374 rs530004588 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331376 19331377 rs197545 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.496245 0.043168 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2721.000000,2287.000000, 0.543331,0.456669, maf-5-some-pop,maf-5-all-pops 732 chr21 19331398 19331399 rs752675916 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331404 19331404 rs573205302 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.011514 0.074997 intron between 1 1 1000GENOMES, 2 -,T, 4979.000000,29.000000, 0.994209,0.005791, 732 chr21 19331410 19331410 rs376636162 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 732 chr21 19331425 19331426 rs573532981 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19331436 19331437 rs182433788 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331451 19331452 rs114280893 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19331486 19331487 rs552426878 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331524 19331525 rs756009642 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331573 19331574 rs2824576 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.022895 0.104514 intron exact 1 9 1000GENOMES,AFFY,BCM_SSAHASNP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 A,C, 4950.000000,58.000000, 0.988419,0.011582, maf-5-some-pop 732 chr21 19331607 19331608 rs748767598 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331643 19331644 rs538104770 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331647 19331648 rs77250821 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19331648 19331649 rs568423992 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19331653 19331654 rs187781670 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 732 chr21 19331671 19331672 rs190918497 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19331718 19331719 rs778674619 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331736 19331738 rs781063864 0 + CT CT -/CT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331775 19331776 rs546876595 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19331787 19331788 rs572714591 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331793 19331794 rs540208510 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331808 19331809 rs558395635 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331825 19331826 rs576866373 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331862 19331863 rs143868372 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19331863 19331864 rs74967300 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 59.000000,4949.000000, 0.011781,0.988219, 732 chr21 19331885 19331886 rs574810158 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19331896 19331897 rs868679292 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19331938 19331939 rs197546 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499234 0.019554 intron exact 1 26 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2602.000000,2406.000000, 0.519569,0.480431, maf-5-some-pop,maf-5-all-pops 732 chr21 19331981 19331982 rs142104196 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19332028 19332029 rs568921054 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19332055 19332056 rs184019731 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19332094 19332095 rs564465703 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332128 19332129 rs2824577 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.487621 0.077694 intron exact 1 28 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2898.000000,2110.000000, 0.578674,0.421326, maf-5-some-pop,maf-5-all-pops 732 chr21 19332155 19332156 rs761832073 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19332184 19332185 rs549966212 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332231 19332232 rs568286485 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19332235 19332236 rs535760636 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332242 19332243 rs868220224 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19332250 19332251 rs530138755 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19332293 19332294 rs116498223 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19332310 19332311 rs372552204 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19332314 19332315 rs557859969 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19332323 19332324 rs174742 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499673 0.012775 intron exact 1 30 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2440.000000,2568.000000, 0.487220,0.512780, maf-5-some-pop,maf-5-all-pops 732 chr21 19332380 19332381 rs539653034 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19332381 19332382 rs116245794 0 + G G A/G genomic single by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 732 chr21 19332385 19332386 rs371453036 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332403 19332404 rs763226399 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19332405 19332406 rs80145961 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 3 1000GENOMES,EVA_DECODE,GMI, 2 G,T, 57.000000,4951.000000, 0.011382,0.988618, 732 chr21 19332425 19332426 rs556411900 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332478 19332479 rs113367190 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19332498 19332499 rs542025739 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332507 19332508 rs371107091 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19332523 19332524 rs868183548 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19332704 19332705 rs553202791 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19332708 19332709 rs374152275 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19332722 19332723 rs773210838 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19332742 19332743 rs749387199 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19332772 19332773 rs117994967 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 5 1000GENOMES,EVA_GENOME_DK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 59.000000,4949.000000, 0.011781,0.988219, 732 chr21 19332788 19332789 rs79907260 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19332790 19332791 rs867158561 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19332796 19332797 rs962868 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.475081 0.108804 intron exact 1 25 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1945.000000,3063.000000, 0.388379,0.611621, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19332799 19332800 rs752446706 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19332804 19332805 rs564458845 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19332806 19332807 rs866448829 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19332811 19332812 rs756025782 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19332833 19332834 rs188081106 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332842 19332843 rs197564 0 - C C G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.295599 0.245806 intron exact 1 29 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 903.000000,4105.000000, 0.180312,0.819688, maf-5-some-pop,maf-5-all-pops 732 chr21 19332851 19332852 rs200799 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.398354 0.201224 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3633.000000,1375.000000, 0.725439,0.274561, maf-5-some-pop,maf-5-all-pops 732 chr21 19332867 19332868 rs73890839 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 6 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, maf-5-some-pop 732 chr21 19332912 19332913 rs547965250 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332918 19332919 rs566283792 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19332949 19332950 rs140050832 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19332953 19332954 rs756802376 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19332967 19332968 rs371830500 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19332991 19332992 rs17768858 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.075947 0.179459 intron exact 1 14 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 198.000000,4810.000000, 0.039537,0.960463, maf-5-some-pop 732 chr21 19333016 19333017 rs116647439 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19333024 19333025 rs537827191 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19333028 19333029 rs745513287 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19333037 19333038 rs191973330 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19333057 19333058 rs369963504 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19333062 19333063 rs564613792 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19333073 19333074 rs184576987 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19333074 19333075 rs373165528 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19333080 19333081 rs145673541 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19333096 19333097 rs200800 0 - C C A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493703 0.055756 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 30 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2223.000000,2785.000000, 0.443890,0.556110, maf-5-some-pop,maf-5-all-pops 732 chr21 19333128 19333129 rs116419603 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4961.000000,47.000000, 0.990615,0.009385, 732 chr21 19333162 19333163 rs147756989 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 732 chr21 19333177 19333178 rs576062856 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19333212 19333213 rs73890840 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19333228 19333229 rs546864473 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19333232 19333234 rs769315533 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19333292 19333293 rs197565 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.028341 0.115616 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4936.000000,72.000000, 0.985623,0.014377, maf-5-some-pop 732 chr21 19333300 19333301 rs529335159 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19333316 19333317 rs376945422 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 732 chr21 19333325 19333326 rs542426621 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19333337 19333338 rs150201299 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 732 chr21 19333363 19333364 rs529239836 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19333364 19333365 rs562411367 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19333379 19333380 rs552088506 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19333388 19333389 rs197566 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.028341 0.115616 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 72.000000,4936.000000, 0.014377,0.985623, maf-5-some-pop 732 chr21 19333395 19333396 rs531384034 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19333397 19333398 rs79365326 0 + A A A/G genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 732 chr21 19333405 19333406 rs568172098 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19333409 19333410 rs376829203 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19333447 19333448 rs145696520 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19333468 19333469 rs760201391 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19333479 19333480 rs763102996 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19333481 19333482 rs766607300 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19333486 19333490 rs747390389 0 + TTGT TTGT -/TTGT genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 732 chr21 19333508 19333509 rs187052175 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19333509 19333510 rs117106025 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19333529 19333530 rs568733915 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19333554 19333555 rs868097889 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19333580 19333581 rs753340627 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19333604 19333605 rs537860198 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19333619 19333620 rs558059462 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19333638 19333639 rs575927153 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19333645 19333646 rs200801 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.479984 0.098017 intron exact 1 32 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3005.000000,2003.000000, 0.600040,0.399960, maf-5-some-pop,maf-5-all-pops 732 chr21 19333681 19333682 rs753709106 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19333727 19333728 rs555299293 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19333735 19333736 rs573795932 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19333903 19333904 rs757332843 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19333926 19333927 rs541484674 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19333949 19333950 rs559579755 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19333956 19333957 rs533605479 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19333986 19333987 rs437630 0 - C C A/G genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 732 chr21 19334013 19334014 rs545270283 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19334089 19334090 rs200802 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.282105 0.24793 intron exact 1 20 1000GENOMES,ABI,BGI,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,G, 851.000000,4157.000000, 0.169928,0.830072, maf-5-some-pop,maf-5-all-pops 732 chr21 19334090 19334091 rs531190922 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19334093 19334093 rs565382960 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron between 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19334105 19334106 rs758075335 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334158 19334159 rs549806475 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19334197 19334198 rs568034490 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19334199 19334200 rs779604555 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334200 19334201 rs192961906 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19334210 19334211 rs547503721 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19334237 19334238 rs439943 0 - C C A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 2 SC_JCM,TSC-CSHL, 1 G, 4.000000, 1.000000, 732 chr21 19334240 19334241 rs418058 0 - C C A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 2 SC_JCM,TSC-CSHL, 1 G, 4.000000, 1.000000, 732 chr21 19334279 19334280 rs755277447 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334282 19334283 rs184876298 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19334342 19334343 rs189383331 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19334345 19334346 rs377533438 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19334351 19334352 rs28641156 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,SSAHASNP,TISHKOFF, 2 G,T, 4954.000000,54.000000, 0.989217,0.010783, maf-5-some-pop 732 chr21 19334371 19334372 rs569621468 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19334397 19334398 rs748585594 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334408 19334409 rs536898333 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19334435 19334436 rs770298430 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334447 19334448 rs777780899 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334455 19334456 rs555360369 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19334468 19334469 rs573941909 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19334518 19334519 rs148960565 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19334525 19334526 rs553482278 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19334547 19334548 rs578029109 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19334592 19334593 rs539640835 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19334614 19334615 rs145673014 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19334619 19334620 rs197567 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.028341 0.115616 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4936.000000,72.000000, 0.985623,0.014377, maf-5-some-pop 732 chr21 19334627 19334628 rs774412325 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334631 19334632 rs759857160 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19334642 19334643 rs113097285 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05811 0.160244 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 150.000000,4858.000000, 0.029952,0.970048, maf-5-some-pop 732 chr21 19334648 19334649 rs573184011 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19334650 19334651 rs112174825 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 105.000000,4903.000000, 0.020967,0.979034, maf-5-some-pop 732 chr21 19334651 19334652 rs113667954 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19334702 19334703 rs556046272 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19334755 19334756 rs114367581 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19334773 19334774 rs112690536 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19334779 19334779 rs35045311 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19334780 19334781 rs756272368 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19334802 19334803 rs575508721 0 + A A A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19334822 19334823 rs559438651 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19334840 19334841 rs375669318 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 732 chr21 19334848 19334849 rs9974375 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 732 chr21 19334886 19334887 rs197568 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.028341 0.115616 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 72.000000,4936.000000, 0.014377,0.985623, maf-5-some-pop 732 chr21 19334999 19335000 rs765292380 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335007 19335008 rs181029937 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19335014 19335015 rs569482803 0 + G G C/G genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 C,G, 29.000000,4979.000000, 0.005791,0.994209, 732 chr21 19335029 19335030 rs372836644 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 732 chr21 19335076 19335077 rs145450967 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19335106 19335107 rs778031234 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19335107 19335108 rs148071202 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19335128 19335129 rs567447876 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335150 19335151 rs535060645 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335175 19335176 rs564421065 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19335176 19335177 rs866599427 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19335196 19335197 rs578052228 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19335258 19335259 rs539107543 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335304 19335305 rs557605664 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19335312 19335313 rs111533871 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 100.000000,4908.000000, 0.019968,0.980032, maf-5-some-pop 732 chr21 19335324 19335325 rs150517860 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19335325 19335326 rs561613876 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335334 19335335 rs573449180 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19335335 19335336 rs185667583 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335366 19335367 rs189331705 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19335367 19335368 rs181392627 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19335373 19335374 rs197569 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.470521 0.117773 intron exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,KWOK,PJP,SC_JCM,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 1896.000000,3112.000000, 0.378594,0.621406, maf-5-some-pop,maf-5-all-pops 732 chr21 19335380 19335384 rs770434377 0 + AAAA AAAA -/AAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335381 19335384 rs752553578 0 + AAA AAA -/AAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335389 19335393 rs200018533 0 + AAAT AAAT -/AAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.349452 0.229367 intron range 1 MixedObserved 4 1000GENOMES,EVA_GENOME_DK,GMI,SSMP, 2 -,AAAT, 3878.000000,1130.000000, 0.774361,0.225639, maf-5-some-pop,maf-5-all-pops 732 chr21 19335389 19335390 rs563026876 0 + A A A/T genomic single by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4849.000000,159.000000, 0.968251,0.031749, maf-5-some-pop 732 chr21 19335389 19335396 rs767873122 0 + AAATAAT AAATAAT -/AAATAAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335390 19335393 rs200150598 0 + AAT AAT -/AAT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19335391 19335396 rs775829558 0 + ATAAT ATAAT -/ATAAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335391 19335395 rs777800295 0 + ATAA ATAA -/ATAA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335392 19335393 rs28681648 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 7 BCM_SSAHASNP,BL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSAHASNP,TSC-CSHL, 0 732 chr21 19335392 19335393 rs56045517 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 3 BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335392 19335394 rs538370069 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 0 732 chr21 19335392 19335396 rs753992413 0 + TAAT TAAT -/TAAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335392 19335396 rs796833878 0 + TAAT TAAT AA/TAAT genomic in-del unknown 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 732 chr21 19335394 19335396 rs371607602 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 BILGI_BIOE,EVA_GENOME_DK, 0 732 chr21 19335394 19335399 rs751542785 0 + ATAAT ATAAT -/ATAAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335395 19335396 rs200002915 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 732 chr21 19335395 19335396 rs367675543 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 3 BILGI_BIOE,EVA_GENOME_DK,HGSV, 0 732 chr21 19335395 19335397 rs774957007 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335398 19335399 rs780126831 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA_GENOME_DK, 0 732 chr21 19335398 19335399 rs868856852 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 ILLUMINA, 0 732 chr21 19335402 19335405 rs10617165 0 + AAT AAT -/AAT genomic deletion unknown 0.5 0 intron range 1 1 BUSHMAN, 2 -,AAT, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19335407 19335408 rs530666779 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335410 19335413 rs36028258 0 + TAA TAA -/TAA genomic deletion unknown 0 0 intron range 1 1 ABI, 0 732 chr21 19335411 19335412 rs185925578 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335435 19335436 rs149275955 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335439 19335440 rs774325725 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19335455 19335456 rs756570560 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335456 19335457 rs147368454 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 33.000000,4975.000000, 0.006589,0.993411, 732 chr21 19335491 19335492 rs546993478 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335513 19335514 rs571517514 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335533 19335533 rs35920019 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19335546 19335547 rs2254429 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.459574 0.136304 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1792.000000,3216.000000, 0.357827,0.642173, maf-5-some-pop,maf-5-all-pops 732 chr21 19335561 19335562 rs770899523 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335577 19335578 rs779119527 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335590 19335591 rs531507396 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19335597 19335598 rs569369136 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335628 19335629 rs189997388 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19335629 19335631 rs781189021 0 + AC AC -/AC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335630 19335631 rs2254434 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.464629 0.128197 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3170.000000,1838.000000, 0.632987,0.367013, maf-5-some-pop,maf-5-all-pops 732 chr21 19335669 19335670 rs112859470 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335686 19335687 rs540539442 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335699 19335700 rs776521454 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335726 19335727 rs761732399 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335762 19335763 rs76275866 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4927.000000,81.000000, 0.983826,0.016174, maf-5-some-pop 732 chr21 19335768 19335769 rs197570 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 732 chr21 19335776 19335777 rs544604205 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19335809 19335810 rs181239828 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335913 19335914 rs186513309 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19335940 19335941 rs191020792 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19335941 19335942 rs200803 0 - C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.327211 0.237778 intron exact 1 20 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1032.000000,3976.000000, 0.206070,0.793930, maf-5-some-pop,maf-5-all-pops 732 chr21 19335960 19335961 rs765738696 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335964 19335965 rs751091963 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19335965 19335966 rs527417914 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19336022 19336023 rs767229753 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19336028 19336029 rs147714742 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19336042 19336043 rs865998525 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19336043 19336044 rs772746338 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19336065 19336066 rs182591671 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19336069 19336070 rs76537954 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 3 1000GENOMES,BUSHMAN,TISHKOFF, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19336080 19336081 rs756444237 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19336083 19336084 rs186311077 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19336133 19336134 rs200804 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.491577 0.064347 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2829.000000,2179.000000, 0.564896,0.435104, maf-5-some-pop,maf-5-all-pops 732 chr21 19336170 19336171 rs569383129 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19336199 19336200 rs197571 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.036066 0.129354 intron exact 1 11 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 92.000000,4916.000000, 0.018371,0.981629, maf-5-some-pop 732 chr21 19336275 19336276 rs555164495 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19336277 19336278 rs75684311 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 732 chr21 19336284 19336285 rs534387183 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19336334 19336334 rs71318116 0 + - - -/G genomic insertion unknown 0.5 0 intron between 1 1 HUMANGENOME_JCVI, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19336337 19336338 rs778804224 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19336338 19336339 rs2824579 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.278133 0.248412 intron exact 1 18 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4172.000000,836.000000, 0.833067,0.166933, maf-5-some-pop,genotype-conflict 732 chr21 19336364 19336365 rs577114536 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19336423 19336424 rs12626708 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap 0.009524 0.068345 intron exact 1 3 ABI,CSHL-HAPMAP,ENSEMBL, 2 A,G, 416.000000,2.000000, 0.995215,0.004785, 732 chr21 19336434 19336435 rs562474442 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19336527 19336528 rs191104585 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19336533 19336535 rs367979590 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 2 1000GENOMES,TISHKOFF, 2 -,AT, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19336540 19336541 rs197572 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.023285 0.105357 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4949.000000,59.000000, 0.988219,0.011781, 732 chr21 19336578 19336579 rs575019739 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19336589 19336590 rs182942975 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19336628 19336629 rs868419996 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19336629 19336630 rs187455053 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19336643 19336644 rs528305294 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19336666 19336668 rs143331966 0 + CA CA -/CA genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 732 chr21 19336678 19336679 rs540420368 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19336684 19336685 rs867304849 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19336687 19336688 rs565072176 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19336688 19336689 rs747284417 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19336689 19336690 rs140423951 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 732 chr21 19336694 19336695 rs145694825 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19336723 19336724 rs562839979 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19336726 19336727 rs530230808 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19336759 19336760 rs192965689 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA-GONL,GMI, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19336771 19336772 rs146591300 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19336779 19336780 rs112344528 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 A,G, 41.000000,4967.000000, 0.008187,0.991813, 732 chr21 19336794 19336795 rs13051339 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19336796 19336797 rs13047212 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19336799 19336800 rs552699666 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19336842 19336843 rs570815690 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19336876 19336877 rs197522 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.024064 0.107019 intron exact 1 12 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4947.000000,61.000000, 0.987819,0.012180, 732 chr21 19336908 19336909 rs183228070 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19336913 19336914 rs574928226 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19336919 19336920 rs536224285 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19336949 19336950 rs547512074 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 732 chr21 19336984 19336985 rs768084566 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19337019 19337020 rs773209547 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19337053 19337054 rs141294200 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19337065 19337066 rs73890842 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 4950.000000,58.000000, 0.988419,0.011582, 732 chr21 19337066 19337067 rs183897 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.296619 0.245615 intron exact 1 29 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4101.000000,907.000000, 0.818890,0.181110, maf-5-some-pop 732 chr21 19337081 19337082 rs374173598 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19337134 19337135 rs138022931 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19337167 19337168 rs200805 0 - A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.052082 0.152737 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KWOK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 134.000000,4874.000000, 0.026757,0.973243, maf-5-some-pop 732 chr21 19337177 19337178 rs544481310 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19337178 19337179 rs377632667 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19337186 19337187 rs175563 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.490175 0.069396 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2855.000000,2153.000000, 0.570088,0.429912, maf-5-some-pop,maf-5-all-pops 732 chr21 19337204 19337205 rs149542875 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19337229 19337230 rs759051671 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19337238 19337239 rs1394740 0 - C C A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.073 0.176553 intron exact 1 15 1000GENOMES,ABI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 190.000000,4818.000000, 0.037939,0.962061, maf-5-some-pop 732 chr21 19337251 19337252 rs78675580 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19337260 19337261 rs197523 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.483995 0.088013 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2952.000000,2056.000000, 0.589457,0.410543, maf-5-some-pop,maf-5-all-pops 732 chr21 19337264 19337265 rs552521351 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19337292 19337293 rs538215706 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19337301 19337302 rs2824580 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.463126 0.13068 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3184.000000,1824.000000, 0.635783,0.364217, maf-5-some-pop,maf-5-all-pops 732 chr21 19337302 19337303 rs370251652 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 0 732 chr21 19337305 19337306 rs114049325 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 35.000000,4973.000000, 0.006989,0.993011, 732 chr21 19337335 19337336 rs550090204 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19337348 19337348 rs35021088 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19337355 19337356 rs143168863 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19337357 19337358 rs755828998 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19337403 19337404 rs535910238 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19337417 19337418 rs554507725 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19337421 19337422 rs188154656 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19337448 19337449 rs148196567 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19337481 19337482 rs192521086 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19337590 19337591 rs183645637 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19337658 19337659 rs565507394 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19337672 19337674 rs770362043 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19337714 19337715 rs764378413 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19337757 19337758 rs577140987 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19337761 19337762 rs544396356 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19337765 19337766 rs111865969 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19337770 19337776 rs746443180 0 + TCCTCT TCCTCT -/TCCTCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19337774 19337775 rs75913450 0 + C C C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 T, 2.000000, 1.000000, 732 chr21 19337787 19337790 rs542813693 0 + CTT CTT -/CTT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 732 chr21 19337790 19337791 rs562817156 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19337791 19337797 rs551145281 0 + TTATTA TTATTA -/TTATTA genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 intron range 1 1 1000GENOMES, 2 -,TTATTA, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19337793 19337794 rs574636858 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19337796 19337802 rs372217898 0 + ATTATT ATTATT -/ATTATT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19337851 19337852 rs112717711 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 4 BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19337861 19337862 rs754218480 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19337885 19337886 rs771844061 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19337886 19337887 rs142672864 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19337903 19337904 rs560513632 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19337914 19337915 rs147349372 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19337953 19337954 rs545928215 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19337960 19337961 rs115868774 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19337962 19337963 rs76234144 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 4974.000000,34.000000, 0.993211,0.006789, 732 chr21 19337971 19337972 rs746793954 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19337977 19337978 rs114631854 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19338012 19338013 rs568668247 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19338035 19338036 rs189189810 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19338035 19338037 rs386816718 0 + CA CA CA/TG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 732 chr21 19338036 19338037 rs149786 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.48378 0.088583 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2955.000000,2053.000000, 0.590056,0.409944, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19338038 19338039 rs564567767 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19338069 19338070 rs755263477 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338069 19338073 rs772555926 0 + AGTT AGTT -/AGTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338114 19338115 rs73890843 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4908.000000,100.000000, 0.980032,0.019968, maf-5-some-pop 732 chr21 19338134 19338135 rs376630922 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19338199 19338200 rs558711853 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19338228 19338228 rs34819022 0 + - - -/T/TTT/TTTT/TTTTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.497881 0.032479 intron between 1 InconsistentAlleles 8 1000GENOMES,BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,PJP, 2 -,TTT, 2667.000000,2341.000000, 0.532548,0.467452, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 732 chr21 19338244 19338244 rs60856566 0 + - - -/T/TTT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 732 chr21 19338249 19338250 rs570556986 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19338251 19338252 rs868382320 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19338262 19338263 rs538077634 0 + G G C/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19338273 19338274 rs556349186 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19338315 19338316 rs574667537 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19338323 19338323 rs34821138 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19338345 19338346 rs139592277 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338375 19338376 rs527312116 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338382 19338383 rs77406307 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 86.000000,4922.000000, 0.017173,0.982827, maf-5-some-pop 732 chr21 19338429 19338430 rs369905118 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 0 732 chr21 19338441 19338442 rs143496969 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 732 chr21 19338442 19338443 rs197524 0 - G G A/C genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 5 1000GENOMES,HAMMER_LAB,KWOK,SC_JCM,TISHKOFF, 2 A,C, 59.000000,4949.000000, 0.011781,0.988219, 732 chr21 19338456 19338457 rs567026252 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19338461 19338462 rs545790754 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19338478 19338479 rs112954920 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19338526 19338527 rs774982752 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338577 19338578 rs760265299 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338606 19338607 rs376279136 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19338659 19338660 rs763762369 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338671 19338672 rs776824783 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338707 19338708 rs139845443 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19338731 19338735 rs536517862 0 + AGAA AGAA -/AGAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AGAA, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19338735 19338736 rs762211192 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338736 19338740 rs376853128 0 + GAAA GAAA -/GAAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19338737 19338738 rs531654559 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19338744 19338745 rs192590456 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19338754 19338755 rs562279463 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19338757 19338758 rs368946287 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19338779 19338780 rs529575579 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19338786 19338787 rs369518235 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19338818 19338819 rs184821552 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19338819 19338820 rs112022188 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19338849 19338850 rs527327923 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19338853 19338854 rs190205854 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19338869 19338870 rs750929808 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338879 19338880 rs144813960 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 732 chr21 19338891 19338892 rs148584778 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19338901 19338902 rs7281752 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.303938 0.244112 intron exact 1 20 1000GENOMES,AFFY,BCM_SSAHASNP,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4072.000000,936.000000, 0.813099,0.186901, maf-5-some-pop,maf-5-all-pops 732 chr21 19338942 19338943 rs376877216 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19338947 19338948 rs568283113 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19338948 19338949 rs2824581 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.49089 0.066874 intron exact 1 25 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2166.000000,2842.000000, 0.432508,0.567492, maf-5-some-pop,maf-5-all-pops 732 chr21 19338962 19338963 rs755210526 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19338991 19338992 rs554082581 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339009 19339010 rs572242351 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339022 19339023 rs76462461 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036451 0.129988 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 93.000000,4915.000000, 0.018570,0.981430, maf-5-some-pop 732 chr21 19339031 19339032 rs772540279 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19339062 19339063 rs757057841 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339066 19339067 rs778636879 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339080 19339081 rs557681972 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19339093 19339094 rs762583275 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19339141 19339142 rs144231355 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19339169 19339170 rs181908853 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19339208 19339209 rs573106523 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.194401 0.243739 intron exact 1 DuplicateObserved 1 1000GENOMES, 2 -,T, 453.000000,3699.000000, 0.109104,0.890896, maf-5-some-pop 732 chr21 19339208 19339208 rs748911410 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 DuplicateObserved 4 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 732 chr21 19339209 19339209 rs71830028 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.305219 0.243826 intron between 1 2 1000GENOMES,GMI, 2 -,T, 3699.000000,856.000000, 0.812075,0.187925, maf-5-some-pop,maf-5-all-pops 732 chr21 19339211 19339212 rs544948742 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19339241 19339242 rs543476971 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19339287 19339288 rs372394664 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19339294 19339295 rs562026264 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19339310 19339311 rs197525 0 - T T A/C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.485596 0.083633 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SEQUENOM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2079.000000,2929.000000, 0.415136,0.584864, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 732 chr21 19339317 19339318 rs541260266 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339326 19339327 rs197526 0 - A A A/C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.485596 0.083633 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SEQUENOM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2929.000000,2079.000000, 0.584864,0.415136, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 732 chr21 19339360 19339361 rs533624537 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339379 19339380 rs437738 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.490727 0.067457 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2163.000000,2845.000000, 0.431909,0.568091, maf-5-some-pop,maf-5-all-pops 732 chr21 19339401 19339402 rs7277083 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.298651 0.24522 intron exact 1 18 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4093.000000,915.000000, 0.817292,0.182708, maf-5-some-pop 732 chr21 19339413 19339414 rs531320716 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19339420 19339421 rs564768309 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19339431 19339432 rs118088286 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 732 chr21 19339452 19339453 rs527376836 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19339464 19339465 rs197527 0 - C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.002393 0.03451 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19339469 19339470 rs368520475 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19339485 19339486 rs574234294 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19339531 19339532 rs539319465 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19339545 19339546 rs557745117 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339550 19339551 rs373985832 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 732 chr21 19339574 19339575 rs542450063 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19339601 19339602 rs770191159 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339604 19339605 rs576062825 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339609 19339610 rs186319718 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19339617 19339618 rs866793090 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19339620 19339621 rs368089353 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 0 732 chr21 19339628 19339629 rs556359725 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19339630 19339631 rs574039295 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339657 19339658 rs541621406 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339664 19339665 rs763502264 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339672 19339673 rs767022774 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339685 19339686 rs559664130 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19339689 19339690 rs197528 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.023675 0.106192 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4948.000000,60.000000, 0.988019,0.011981, 732 chr21 19339709 19339709 rs752640238 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339721 19339722 rs545752687 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19339723 19339724 rs759666786 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339727 19339728 rs377303473 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19339729 19339730 rs767547249 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339753 19339754 rs197529 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.285257 0.247501 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4145.000000,863.000000, 0.827676,0.172324, maf-5-some-pop 732 chr21 19339771 19339772 rs13048366 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.252421 0.249988 intron exact 1 22 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 742.000000,4266.000000, 0.148163,0.851837, maf-5-some-pop 732 chr21 19339782 19339783 rs150168341 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19339817 19339818 rs750453644 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19339840 19339841 rs561832466 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19339846 19339847 rs78545542 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 49.000000,4959.000000, 0.009784,0.990216, maf-5-some-pop 732 chr21 19339851 19339852 rs750210415 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19339910 19339911 rs422880 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.489024 0.073264 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2133.000000,2875.000000, 0.425919,0.574081, maf-5-some-pop,maf-5-all-pops 732 chr21 19339920 19339921 rs75291114 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19339930 19339931 rs369495356 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19339997 19339998 rs779938986 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340002 19340003 rs2824582 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.458315 0.13822 intron exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1781.000000,3227.000000, 0.355631,0.644369, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19340036 19340037 rs551289488 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19340090 19340091 rs768142670 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340093 19340094 rs376497411 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19340120 19340121 rs540672155 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19340139 19340140 rs569609031 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19340146 19340147 rs746992026 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19340164 19340165 rs537490391 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19340188 19340189 rs369723085 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 732 chr21 19340194 19340195 rs574080854 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19340195 19340196 rs547541275 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19340201 19340202 rs10470204 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.035297 0.128072 intron exact 1 8 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,KRIBB_YJKIM,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 732 chr21 19340205 19340206 rs773584857 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340206 19340207 rs553418952 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19340209 19340210 rs763377007 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340227 19340228 rs189614614 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19340231 19340232 rs771471087 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340236 19340237 rs545617690 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19340261 19340262 rs865961633 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19340280 19340281 rs2824583 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.457853 0.138915 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1777.000000,3231.000000, 0.354832,0.645168, maf-5-some-pop,maf-5-all-pops 732 chr21 19340282 19340283 rs760184380 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340314 19340315 rs868410838 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19340328 19340329 rs138669205 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19340410 19340411 rs17002246 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.087635 0.190099 intron exact 1 15 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4778.000000,230.000000, 0.954073,0.045927, maf-5-some-pop 732 chr21 19340423 19340424 rs56114710 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19340427 19340428 rs567056534 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19340428 19340429 rs769319680 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19340534 19340535 rs528999250 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19340542 19340543 rs760904705 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340547 19340548 rs369361452 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19340551 19340552 rs180727988 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19340628 19340629 rs770528100 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19340635 19340636 rs111738160 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,BUSHMAN,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19340659 19340660 rs141420104 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19340714 19340715 rs73890845 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 6 1000GENOMES,BUSHMAN,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 732 chr21 19340734 19340735 rs531824948 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340738 19340739 rs758170904 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340775 19340776 rs868170837 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19340782 19340783 rs766220421 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340816 19340817 rs77002192 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,T, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 732 chr21 19340862 19340863 rs530669305 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19340871 19340872 rs73890847 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 732 chr21 19340902 19340903 rs146937562 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19340909 19340910 rs534997321 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19340911 19340912 rs751494215 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19340921 19340922 rs62213020 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 8 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19340970 19340971 rs563999092 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19340975 19340976 rs571969643 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19341058 19341059 rs2824584 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.243061 0.249904 intron exact 1 MixedObserved 16 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,T, 709.000000,4299.000000, 0.141573,0.858427, maf-5-some-pop 732 chr21 19341058 19341061 rs386816719 0 + TGG TGG AGA/TGG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 732 chr21 19341060 19341061 rs11910306 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.243347 0.249911 intron exact 1 15 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 710.000000,4298.000000, 0.141773,0.858227, maf-5-some-pop 732 chr21 19341069 19341070 rs567640305 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19341077 19341078 rs370751234 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19341115 19341116 rs189949171 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19341176 19341177 rs777268731 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19341185 19341186 rs2824585 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.457853 0.138915 intron exact 1 25 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3231.000000,1777.000000, 0.645168,0.354832, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19341359 19341362 rs544744694 0 + TTA TTA -/TTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TTA, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19341361 19341362 rs183327047 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19341414 19341415 rs117792562 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19341415 19341416 rs573582034 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19341511 19341512 rs541015215 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19341565 19341566 rs531969000 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19341662 19341663 rs197530 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.351635 0.228408 intron exact 1 21 1000GENOMES,ABI,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3868.000000,1140.000000, 0.772364,0.227636, maf-5-some-pop,maf-5-all-pops 732 chr21 19341664 19341665 rs772476764 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19341734 19341735 rs186571657 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19341775 19341776 rs866853977 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19341881 19341882 rs137873752 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19341918 19341919 rs2824586 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.458315 0.13822 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3227.000000,1781.000000, 0.644369,0.355631, maf-5-some-pop,maf-5-all-pops 732 chr21 19341958 19341959 rs530718173 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19341992 19341993 rs17002247 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.120674 0.21395 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 323.000000,4685.000000, 0.064497,0.935503, maf-5-some-pop 732 chr21 19341994 19341995 rs567548832 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342011 19342012 rs528517447 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342021 19342022 rs118089645 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 732 chr21 19342027 19342028 rs762093358 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342070 19342071 rs374899728 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 732 chr21 19342079 19342080 rs560576563 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19342080 19342081 rs748898587 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342114 19342115 rs197531 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.043347 0.140692 intron exact 1 12 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 111.000000,4897.000000, 0.022164,0.977835, maf-5-some-pop,genotype-conflict 732 chr21 19342128 19342129 rs143539700 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 732 chr21 19342129 19342130 rs751371549 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342163 19342164 rs529476738 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19342184 19342185 rs557605756 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19342188 19342189 rs754897419 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342296 19342297 rs781338056 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19342306 19342307 rs569384095 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342321 19342322 rs372541261 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 4 HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 0 732 chr21 19342330 19342331 rs197532 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.030278 0.119257 intron exact 1 12 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 732 chr21 19342357 19342358 rs555008122 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19342389 19342390 rs191847715 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342392 19342393 rs534326936 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19342417 19342418 rs752726848 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342489 19342490 rs529103623 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 -,A, 59.000000,4949.000000, 0.011781,0.988219, 732 chr21 19342490 19342491 rs368190106 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19342522 19342523 rs755562140 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342523 19342524 rs197533 0 - T T A/G genomic single by-cluster,by-frequency,by-1000genomes 0.294064 0.246086 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4111.000000,897.000000, 0.820887,0.179113, maf-5-some-pop 732 chr21 19342545 19342546 rs577338716 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19342549 19342550 rs544739339 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19342552 19342553 rs549621302 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19342569 19342570 rs563375895 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342571 19342572 rs543468072 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342623 19342624 rs755980644 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19342637 19342638 rs756982250 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342669 19342670 rs371539856 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 JMKIDD_LAB,SSMP,TISHKOFF, 0 732 chr21 19342673 19342674 rs866035970 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19342686 19342687 rs575397048 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19342693 19342694 rs183447268 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342728 19342729 rs868020257 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19342797 19342798 rs561038626 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342840 19342841 rs746268468 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342852 19342853 rs148351310 0 + A A A/G genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 732 chr21 19342871 19342872 rs540625986 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19342895 19342896 rs772528779 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19342907 19342908 rs547040800 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19342914 19342915 rs565247986 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19342923 19342924 rs141546934 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,GMI,JMKIDD_LAB, 2 A,T, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19342956 19342957 rs569487584 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19342961 19342962 rs115444375 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012713 0.078853 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 3 C,G,T, 8.000000,24.000000,4976.000000, 0.001597,0.004792,0.993610, 732 chr21 19342975 19342976 rs188106241 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19342980 19342981 rs150875661 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 18.000000,4990.000000, 0.003594,0.996406, 732 chr21 19342988 19342989 rs116094198 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,T, 64.000000,4944.000000, 0.012780,0.987220, maf-5-some-pop 732 chr21 19343099 19343100 rs139778265 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 732 chr21 19343116 19343117 rs76796365 0 + T T A/T genomic single unknown 0.277778 0.248452 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,5.000000, 0.166667,0.833333, 732 chr21 19343157 19343158 rs768618627 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343208 19343209 rs192738216 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19343212 19343213 rs761968189 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343222 19343223 rs36031706 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19343234 19343235 rs144483038 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19343270 19343271 rs748926254 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19343276 19343277 rs538245081 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19343280 19343281 rs531883627 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343281 19343282 rs552053976 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19343285 19343286 rs182112097 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19343345 19343346 rs565570734 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343365 19343366 rs575258718 0 + C C A/C genomic single by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 1 1000GENOMES, 2 A,C, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 732 chr21 19343384 19343385 rs369532713 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19343416 19343417 rs369505130 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 JMKIDD_LAB,SSMP,TISHKOFF, 0 732 chr21 19343445 19343446 rs542464075 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19343497 19343498 rs767399555 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343511 19343512 rs528028535 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343512 19343513 rs34093787 0 + G G A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 7 1000GENOMES,ABI,BUSHMAN,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 732 chr21 19343537 19343538 rs547792104 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19343555 19343556 rs573193541 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19343573 19343574 rs140007983 0 + G G A/G genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 732 chr21 19343577 19343578 rs565153261 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19343657 19343658 rs763638656 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343661 19343662 rs186581056 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19343682 19343683 rs201323300 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 GMI,SSMP, 0 732 chr21 19343708 19343709 rs369895975 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19343711 19343712 rs550982534 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19343733 19343734 rs562848888 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19343735 19343736 rs530161090 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19343736 19343737 rs548519063 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19343757 19343758 rs197534 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.284995 0.247539 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4146.000000,862.000000, 0.827875,0.172125, maf-5-some-pop,maf-5-all-pops 732 chr21 19343778 19343779 rs778678878 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343787 19343788 rs750140394 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343789 19343790 rs145737576 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 732 chr21 19343804 19343805 rs758676888 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343807 19343808 rs552499367 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19343818 19343819 rs2591645 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.457969 0.138741 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1778.000000,3230.000000, 0.355032,0.644968, maf-5-some-pop,maf-5-all-pops 732 chr21 19343820 19343821 rs538257119 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19343823 19343827 rs559605076 0 + TGTT TGTT -/TGTT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,TGTT, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19343830 19343831 rs12482983 0 + T T C/T genomic single by-cluster,by-hapmap 0 0 intron exact 1 2 ABI,CSHL-HAPMAP, 0 732 chr21 19343834 19343835 rs556871135 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19343841 19343842 rs369105324 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19343891 19343892 rs191440369 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19343892 19343893 rs184693926 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19343894 19343898 rs745361107 0 + TTGT TTGT -/TTGT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19343926 19343927 rs197535 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.035297 0.128072 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 732 chr21 19343936 19343937 rs207477756 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 732 chr21 19343952 19343953 rs573100712 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19343985 19343986 rs377589567 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19344012 19344013 rs370921335 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 732 chr21 19344038 19344039 rs769907979 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344039 19344040 rs372418364 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 732 chr21 19344041 19344042 rs773405928 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344057 19344058 rs151189415 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19344059 19344060 rs141458310 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.084 0.186933 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4788.000000,220.000000, 0.956070,0.043930, maf-5-some-pop 732 chr21 19344063 19344064 rs190392995 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19344085 19344086 rs193027267 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19344109 19344110 rs377702961 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344128 19344129 rs530151998 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344221 19344222 rs867755764 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19344254 19344255 rs542342997 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344256 19344257 rs538437125 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344281 19344282 rs560211365 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344289 19344290 rs760479380 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344290 19344291 rs527921392 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344310 19344311 rs764156187 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344324 19344325 rs552312851 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344347 19344348 rs570813466 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344359 19344360 rs149341 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.283684 0.24772 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4151.000000,857.000000, 0.828874,0.171126, maf-5-some-pop 732 chr21 19344368 19344369 rs866627852 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19344376 19344377 rs550324309 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344396 19344397 rs568871252 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19344397 19344398 rs535852277 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344411 19344412 rs137917378 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19344435 19344436 rs185225961 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19344478 19344479 rs750039351 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344487 19344488 rs765680932 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19344491 19344492 rs189723421 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344494 19344495 rs558736379 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344540 19344541 rs150086674 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 732 chr21 19344544 19344545 rs544460321 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344571 19344572 rs556166469 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19344588 19344589 rs149787 0 + C C C/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19344615 19344616 rs183930 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.45866 0.137698 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3224.000000,1784.000000, 0.643770,0.356230, maf-5-some-pop,maf-5-all-pops 732 chr21 19344616 19344617 rs560222959 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344644 19344645 rs527734482 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19344716 19344717 rs546012549 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19344759 19344760 rs564309415 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344803 19344804 rs866836204 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19344810 19344811 rs181174240 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19344834 19344835 rs868662851 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19344866 19344867 rs554457746 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344882 19344883 rs149267494 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19344891 19344892 rs185822340 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19344902 19344903 rs781646609 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19344912 19344913 rs529734006 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19344921 19344922 rs371557133 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19344959 19344960 rs574333080 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19344986 19344987 rs548164995 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19345008 19345009 rs374644957 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19345009 19345010 rs188260841 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19345024 19345025 rs9680363 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.144296 0.226554 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 392.000000,4616.000000, 0.078275,0.921725, maf-5-some-pop 732 chr21 19345028 19345029 rs552417786 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19345031 19345032 rs197536 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.388775 0.207946 intron exact 1 18 1000GENOMES,ABI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SEQUENOM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3685.000000,1323.000000, 0.735823,0.264177, maf-5-some-pop 732 chr21 19345061 19345062 rs545605321 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19345065 19345066 rs565508057 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19345079 19345081 rs776011113 0 + GG GG -/GG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19345083 19345084 rs197537 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.392325 0.205532 intron exact 1 16 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1342.000000,3666.000000, 0.267971,0.732029, maf-5-some-pop 732 chr21 19345090 19345091 rs187207252 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345104 19345105 rs9680381 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.371177 0.218669 intron exact 1 15 1000GENOMES,ABI,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3775.000000,1233.000000, 0.753794,0.246206, maf-5-some-pop 732 chr21 19345112 19345113 rs62142270 0 - A A C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19345123 19345124 rs9750838 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19345129 19345129 rs76535378 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 GMI, 0 732 chr21 19345142 19345143 rs756032196 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19345145 19345146 rs9752859 0 + A A C/T genomic single unknown 0.5 0 intron exact 1 ObservedMismatch 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, observed-mismatch 732 chr21 19345153 19345154 rs535845677 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345170 19345171 rs9680478 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 732 chr21 19345177 19345178 rs9750310 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19345194 19345195 rs572226189 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345195 19345196 rs561433983 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19345204 19345205 rs545930378 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19345214 19345215 rs564220347 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345251 19345252 rs35053293 0 - A A -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19345268 19345269 rs78847648 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19345285 19345286 rs576625271 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19345319 19345320 rs36161520 0 - C C C/G genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19345322 19345323 rs113738154 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345334 19345335 rs71498628 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19345339 19345340 rs36191381 0 - C C C/G genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19345340 19345341 rs201438319 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.082906 0.185956 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,A, 217.000000,4791.000000, 0.043331,0.956669, maf-5-some-pop 732 chr21 19345363 19345364 rs9680156 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,WI_SSAHASNP, 2 G,T, 65.000000,4943.000000, 0.012979,0.987021, 732 chr21 19345365 19345365 rs35938759 0 - - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19345375 19345376 rs36169295 0 - T T A/G genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19345380 19345381 rs36159239 0 - G G C/G genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19345410 19345411 rs372758448 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19345418 19345419 rs768623292 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19345424 19345425 rs776698514 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19345438 19345439 rs529512505 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345445 19345446 rs548227770 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345453 19345454 rs36175940 0 - T T C/G genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ABI, 0 observed-mismatch 732 chr21 19345479 19345480 rs866042080 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19345482 19345483 rs868025906 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19345504 19345505 rs761910117 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19345567 19345568 rs868261528 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19345609 19345610 rs560155516 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19345618 19345619 rs527262068 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345637 19345638 rs552327703 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345658 19345659 rs570449360 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345675 19345677 rs549948165 0 + AC AC -/AC genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 732 chr21 19345680 19345681 rs141441434 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19345711 19345711 rs199802180 0 + - - -/TTTTC genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,HAMMER_LAB, 0 732 chr21 19345712 19345730 rs763332978 0 + TTTCTTTTCTTTTCTTTC TTTCTTTTCTTTTCTTTC -/TTTCTTTTCTTTTCTTTC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 732 chr21 19345720 19345721 rs368446122 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 TISHKOFF, 0 732 chr21 19345720 19345734 rs796396873 0 + CTTTTCTTTCTTTC CTTTTCTTTCTTTC -/CTTTTCTTTCTTTC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HAMMER_LAB, 0 732 chr21 19345724 19345725 rs866904506 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19345726 19345726 rs200892133 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 4 1000GENOMES,HAMMER_LAB,LUNTER,TISHKOFF, 0 732 chr21 19345729 19345730 rs367861114 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19345733 19345734 rs370328291 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19345734 19345736 rs374172043 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.491157 0.065903 intron range 1 2 1000GENOMES,BILGI_BIOE, 2 -,TT, 2171.000000,2837.000000, 0.433506,0.566494, maf-5-some-pop,maf-5-all-pops 732 chr21 19345737 19345738 rs549663929 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19345737 19345737 rs201770147 0 + - - -/C genomic insertion by-1000genomes 0 0 intron between 1 MixedObserved 1 1000GENOMES, 0 732 chr21 19345748 19345749 rs112620953 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 732 chr21 19345750 19345752 rs3077803 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 TSC-CSHL, 0 732 chr21 19345801 19345802 rs570118670 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19345809 19345810 rs568365941 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19345811 19345812 rs150819918 0 + C C C/T genomic single by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 1 1000GENOMES, 2 C,T, 4947.000000,61.000000, 0.987819,0.012180, 732 chr21 19345825 19345826 rs376004786 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19345833 19345834 rs572138298 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345852 19345853 rs557062910 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19345858 19345859 rs532495904 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19345878 19345879 rs539446478 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19345882 19345883 rs552273917 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19345887 19345888 rs778591526 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19345889 19345890 rs745375177 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19345909 19345910 rs71318118 0 + T T -/G/T/TT genomic in-del by-cluster,by-frequency,by-1000genomes 0.293807 0.246132 unknown exact 1 MixedObserved,InconsistentAlleles 8 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER, 2 -,T, 896.000000,4112.000000, 0.178914,0.821086, rs-cluster-nonoverlapping-alleles 732 chr21 19345909 19345911 rs796349606 0 + TT TT G/TT genomic in-del unknown 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 732 chr21 19345910 19345911 rs538168696 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.293807 0.246132 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 G,T, 896.000000,4112.000000, 0.178914,0.821086, maf-5-some-pop 732 chr21 19345917 19345918 rs34010355 0 + T T -/T genomic deletion unknown 0.5 0 intron exact 1 2 ABI,BUSHMAN, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19345926 19345927 rs576417104 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19345942 19345943 rs191999071 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19345944 19345945 rs562110410 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19345986 19345987 rs574290428 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19345998 19345999 rs541780439 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19345999 19346000 rs558126718 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19346011 19346012 rs762467829 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346012 19346013 rs534515728 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346028 19346029 rs527328157 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19346079 19346080 rs375612013 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346106 19346107 rs564213296 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346107 19346108 rs531279301 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346119 19346119 rs369903501 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 BILGI_BIOE, 0 732 chr21 19346120 19346120 rs537852116 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 732 chr21 19346123 19346124 rs111288268 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 4 1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 732 chr21 19346133 19346134 rs73890849 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19346138 19346139 rs529034415 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346150 19346151 rs139320273 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19346169 19346170 rs565630960 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346182 19346183 rs751213130 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346208 19346209 rs770233549 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19346221 19346222 rs113612809 0 + C C C/T genomic single by-frequency 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 732 chr21 19346245 19346246 rs116386439 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19346372 19346373 rs181664342 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19346377 19346378 rs117268341 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19346381 19346382 rs375141975 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19346422 19346423 rs541690259 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19346441 19346442 rs574179625 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19346450 19346451 rs541640293 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19346477 19346478 rs553742158 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346483 19346484 rs564661698 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19346506 19346507 rs186856740 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19346519 19346520 rs191993669 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19346576 19346576 rs774051815 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 732 chr21 19346594 19346595 rs767934216 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346631 19346632 rs113093872 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4897.000000,111.000000, 0.977835,0.022164, maf-5-some-pop 732 chr21 19346632 19346633 rs531323393 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19346633 19346634 rs766706790 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19346644 19346645 rs796930743 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19346652 19346653 rs147827536 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19346655 19346656 rs756623763 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346663 19346664 rs777665078 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346665 19346666 rs749416085 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346671 19346672 rs561820391 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19346691 19346692 rs533123459 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19346715 19346716 rs757318949 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346735 19346736 rs372684786 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19346736 19346737 rs369240286 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19346742 19346743 rs182492795 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19346794 19346795 rs774755376 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19346811 19346812 rs145297931 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 intron exact 1 MixedObserved 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4922.000000,86.000000, 0.982827,0.017173, maf-5-some-pop 732 chr21 19346811 19346812 rs567143637 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,C, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19346824 19346825 rs187182517 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19346855 19346856 rs746151576 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19346856 19346857 rs533026633 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19346866 19346867 rs556718735 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19346880 19346881 rs551764693 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19346947 19346948 rs158610 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.299916 0.244966 intron exact 1 18 1000GENOMES,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4088.000000,920.000000, 0.816294,0.183706, maf-5-some-pop,maf-5-all-pops 732 chr21 19346966 19346967 rs767658508 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19347131 19347132 rs537431071 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19347138 19347139 rs555625697 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347168 19347169 rs147653618 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19347179 19347180 rs197573 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.382279 0.212137 intron exact 1 25 1000GENOMES,ABI,AFFY,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3719.000000,1289.000000, 0.742612,0.257388, maf-5-some-pop 732 chr21 19347201 19347202 rs553577494 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19347209 19347210 rs373984994 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19347213 19347214 rs377656304 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19347219 19347220 rs756017181 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19347313 19347314 rs545750660 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347316 19347317 rs189529009 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347341 19347342 rs769796485 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347357 19347358 rs576005087 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347382 19347383 rs553120395 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19347398 19347399 rs142264881 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 732 chr21 19347422 19347423 rs158611 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.305186 0.243833 intron exact 1 17 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4067.000000,941.000000, 0.812101,0.187899, maf-5-some-pop,maf-5-all-pops 732 chr21 19347445 19347446 rs540846351 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19347462 19347463 rs765862111 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347463 19347464 rs774045875 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347468 19347469 rs143046244 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19347469 19347470 rs541646872 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19347513 19347514 rs182228939 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19347530 19347531 rs551413088 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347556 19347557 rs115106631 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19347568 19347569 rs530850307 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347575 19347576 rs549317430 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19347594 19347595 rs369634508 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19347633 19347634 rs750123223 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19347654 19347655 rs1573438 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.15665 0.231917 intron exact 1 17 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4579.000000,429.000000, 0.914337,0.085663, maf-5-some-pop 732 chr21 19347668 19347669 rs535086484 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19347675 19347676 rs2166360 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 732 chr21 19347685 19347686 rs197574 0 + T T C/T genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 intron exact 1 30 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19347740 19347741 rs551615997 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19347741 19347742 rs756572963 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347761 19347761 rs200517117 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 732 chr21 19347766 19347767 rs73194508 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.270621 0.249148 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4200.000000,808.000000, 0.838658,0.161342, maf-5-some-pop 732 chr21 19347777 19347778 rs370347171 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19347802 19347803 rs373776350 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19347811 19347812 rs754350404 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347821 19347822 rs557412991 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19347837 19347838 rs149789 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.011514 0.074997 intron exact 1 31 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 732 chr21 19347855 19347856 rs536643076 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347867 19347868 rs779498988 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19347919 19347920 rs188912101 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347948 19347949 rs778929048 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347963 19347964 rs750606112 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347975 19347976 rs573415254 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19347992 19347993 rs540758786 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19347993 19347994 rs758708266 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19347998 19347999 rs781088654 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348012 19348013 rs193119267 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19348060 19348061 rs577461464 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19348074 19348075 rs543778370 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19348079 19348080 rs13052498 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.232943 0.249417 intron exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 674.000000,4334.000000, 0.134585,0.865415, maf-5-some-pop 732 chr21 19348124 19348125 rs530805905 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19348126 19348127 rs73890850 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,ILLUMINA,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 G,T, 27.000000,4981.000000, 0.005391,0.994609, 732 chr21 19348226 19348227 rs111689735 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,SSMP, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19348231 19348232 rs151137412 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19348240 19348241 rs749248101 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348268 19348269 rs117216 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.45645 0.140991 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1765.000000,3243.000000, 0.352436,0.647564, maf-5-some-pop,maf-5-all-pops 732 chr21 19348311 19348312 rs547164938 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19348326 19348327 rs773859661 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348353 19348354 rs185788665 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19348367 19348368 rs552210552 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348374 19348375 rs867260511 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19348426 19348427 rs538871518 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19348436 19348437 rs74951114 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05397 0.155153 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4869.000000,139.000000, 0.972244,0.027756, maf-5-some-pop 732 chr21 19348457 19348458 rs569470393 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19348478 19348479 rs775162672 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348480 19348480 rs774881940 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348484 19348485 rs197575 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.298144 0.245321 intron exact 1 19 1000GENOMES,ABI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4095.000000,913.000000, 0.817692,0.182308, maf-5-some-pop 732 chr21 19348492 19348493 rs571599697 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19348502 19348503 rs866885950 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19348520 19348521 rs111569790 0 + G G A/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,BUSHMAN, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19348536 19348537 rs573327649 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19348557 19348558 rs188303681 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19348567 19348569 rs147532935 0 + AC AC -/AC genomic deletion by-cluster,by-frequency,by-1000genomes 0.429237 0.174281 intron range 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AC, 1562.000000,3446.000000, 0.311901,0.688099, maf-5-some-pop,maf-5-all-pops 732 chr21 19348568 19348570 rs775578404 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19348570 19348571 rs77959738 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19348570 19348572 rs372436897 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TISHKOFF, 0 732 chr21 19348571 19348572 rs77056032 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19348574 19348575 rs552689827 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19348582 19348583 rs138505562 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 PJP, 0 732 chr21 19348587 19348598 rs71318119 0 + AAAAAAAAAAA AAAAAAAAAAA -/AAAAAAAAAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron range 1 MixedObserved 2 1000GENOMES,HUMANGENOME_JCVI, 2 -,AAAAAAAAAAA, 4962.000000,46.000000, 0.990815,0.009185, 732 chr21 19348587 19348587 rs767420530 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 SSMP, 0 732 chr21 19348620 19348621 rs192326265 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 732 chr21 19348629 19348630 rs79394182 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 732 chr21 19348657 19348658 rs754366606 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348658 19348659 rs184175562 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19348687 19348688 rs188698569 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19348744 19348745 rs542972387 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19348754 19348755 rs753756429 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19348765 19348766 rs762230865 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348804 19348805 rs197576 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.325327 0.238382 intron exact 1 26 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3984.000000,1024.000000, 0.795527,0.204473, maf-5-some-pop 732 chr21 19348896 19348896 rs775480480 0 + - - -/TACC genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 732 chr21 19348902 19348903 rs750556910 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348915 19348916 rs528537615 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19348930 19348931 rs540594588 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19348931 19348932 rs565383823 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19348945 19348946 rs758657380 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19348976 19348977 rs541281000 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19349048 19349049 rs28607674 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,SSAHASNP,SSMP, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19349058 19349059 rs550906184 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19349073 19349074 rs569467493 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19349077 19349078 rs77543306 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19349112 19349113 rs548516234 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19349124 19349125 rs750249487 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19349130 19349131 rs180707780 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19349222 19349223 rs74755865 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 4937.000000,71.000000, 0.985823,0.014177, maf-5-some-pop 732 chr21 19349241 19349242 rs552503606 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19349312 19349313 rs571271673 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19349350 19349351 rs2824587 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.232943 0.249417 intron exact 1 19 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 674.000000,4334.000000, 0.134585,0.865415, maf-5-some-pop 732 chr21 19349408 19349409 rs556759707 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19349424 19349425 rs575442845 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19349454 19349455 rs116789221 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19349466 19349467 rs554914230 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19349527 19349528 rs573130595 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19349529 19349530 rs534010103 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19349545 19349546 rs374563521 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19349574 19349575 rs755929682 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19349601 19349602 rs540655376 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19349609 19349610 rs184415414 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19349640 19349641 rs111730425 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 124.000000,4884.000000, 0.024760,0.975240, maf-5-some-pop 732 chr21 19349654 19349655 rs376575415 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19349679 19349680 rs199622280 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19349681 19349681 rs542807552 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.482459 0.091993 intron between 1 3 1000GENOMES,EVA_GENOME_DK,SSMP, 2 -,T, 2973.000000,2035.000000, 0.593650,0.406350, maf-5-some-pop,maf-5-all-pops 732 chr21 19349742 19349743 rs369044402 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19349767 19349768 rs373714954 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19349772 19349773 rs2591643 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.493613 0.056148 intron exact 1 MixedObserved 12 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2221.000000,2787.000000, 0.443490,0.556510, maf-5-some-pop,maf-5-all-pops 732 chr21 19349772 19349775 rs796790275 0 + TCG TCG CCT/TCG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 732 chr21 19349774 19349775 rs197577 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.456095 0.141508 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,KWOK,SC_JCM,SEQUENOM,SSMP,WEILL_CORNELL_DGM, 2 G,T, 1762.000000,3246.000000, 0.351837,0.648163, maf-5-some-pop,maf-5-all-pops 732 chr21 19349785 19349786 rs553814357 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19349786 19349787 rs373242352 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19349800 19349801 rs12626922 0 + G G A/G genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 732 chr21 19349819 19349820 rs62213021 0 + A A A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19349832 19349833 rs527950850 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19349842 19349843 rs190525094 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19349852 19349853 rs529297194 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19349891 19349892 rs184931979 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 732 chr21 19349920 19349921 rs571250306 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19349927 19349928 rs138424692 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 732 chr21 19349955 19349956 rs554892391 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19349959 19349960 rs557060000 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19349965 19349966 rs574997248 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19350010 19350011 rs182010307 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 5 1000GENOMES,EVA-GONL,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 59.000000,4949.000000, 0.011781,0.988219, 732 chr21 19350015 19350016 rs202413 0 - C C G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19350041 19350042 rs559605722 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19350051 19350052 rs201843437 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19350058 19350060 rs549471676 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron range 1 3 1000GENOMES,DDI,SSIP, 2 -,CT, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19350063 19350064 rs563646249 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19350115 19350116 rs202414 0 - T T A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SSAHASNP,SSMP,WI_SSAHASNP, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19350121 19350122 rs145108857 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 732 chr21 19350129 19350130 rs558549326 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19350135 19350136 rs577212707 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19350145 19350146 rs202415 0 - A A A/C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SEQUENOM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, rs-cluster-nonoverlapping-alleles 732 chr21 19350166 19350167 rs202416 0 - T T A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.170084 0.236883 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 16 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,KWOK,SEQUENOM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 470.000000,4538.000000, 0.093850,0.906150, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 732 chr21 19350172 19350173 rs868248752 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19350183 19350184 rs545836560 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19350191 19350192 rs574545733 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19350215 19350216 rs542039250 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19350235 19350235 rs763879675 0 + - - -/A/AAAAAAAAAAAAAAAAAA genomic insertion by-cluster 0 0 intron between 1 2 EVA_GENOME_DK,SSMP, 0 732 chr21 19350251 19350252 rs373616226 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 732 chr21 19350251 19350251 rs57837589 0 + - - -/AAAAAAAAA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 732 chr21 19350264 19350265 rs74482941 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19350329 19350330 rs371009656 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19350341 19350342 rs111773199 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19350374 19350375 rs781420967 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19350381 19350382 rs197578 0 + A A A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.324619 0.238604 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 21 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 3987.000000,1021.000000, 0.796126,0.203874, maf-5-some-pop 732 chr21 19350400 19350401 rs181560652 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19350417 19350418 rs374330588 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19350442 19350443 rs197579 0 + C C C/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19350448 19350449 rs185302614 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19350455 19350456 rs149424349 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19350458 19350459 rs372566371 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19350459 19350460 rs144689054 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19350544 19350545 rs148498632 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022904 0.104597 intron exact 1 SingleClassTriAllelic 4 1000GENOMES,EVA-GONL,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 2.000000,4950.000000,56.000000, 0.000399,0.988419,0.011182, 732 chr21 19350553 19350554 rs190160888 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19350559 19350560 rs566699287 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19350567 19350568 rs182107337 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19350596 19350597 rs550939825 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19350607 19350608 rs548347264 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19350628 19350629 rs533970891 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19350669 19350670 rs187523350 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19350673 19350674 rs410812 0 - G G C/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 SC_JCM, 1 C, 4.000000, 1.000000, 732 chr21 19350684 19350685 rs141895945 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.072261 0.17581 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4820.000000,188.000000, 0.962460,0.037540, maf-5-some-pop 732 chr21 19350698 19350699 rs199798323 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19350709 19350710 rs556256006 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19350712 19350713 rs574607439 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19350739 19350740 rs75146687 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19350762 19350763 rs377306395 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 732 chr21 19350763 19350764 rs367686617 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19350768 19350769 rs560211159 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19350769 19350770 rs866925094 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19350773 19350774 rs572345736 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19350795 19350796 rs371769526 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19350806 19350807 rs546041719 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19350819 19350819 rs34270385 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19350830 19350831 rs564806250 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19350835 19350836 rs573816214 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 0 732 chr21 19350836 19350837 rs191153907 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19350850 19350851 rs775638088 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19350903 19350904 rs531885077 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19350906 19350907 rs149891 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.456685 0.140646 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3241.000000,1767.000000, 0.647165,0.352835, maf-5-some-pop,maf-5-all-pops 732 chr21 19350931 19350932 rs183816856 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19350932 19350933 rs140811690 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 58.000000,4950.000000, 0.011582,0.988419, 732 chr21 19350955 19350956 rs111980291 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4905.000000,103.000000, 0.979433,0.020567, maf-5-some-pop 732 chr21 19350958 19350959 rs112082148 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4905.000000,103.000000, 0.979433,0.020567, maf-5-some-pop 732 chr21 19350967 19350968 rs189256863 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19350982 19350983 rs552038435 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19351000 19351001 rs570745950 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19351006 19351007 rs537714665 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19351008 19351009 rs539437261 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 732 chr21 19351009 19351010 rs556401009 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19351049 19351050 rs76219480 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19351050 19351051 rs34399713 0 + A A -/A genomic deletion by-cluster 0.375 0.216506 intron exact 1 MixedObserved 5 ABI,BUSHMAN,GMI,HUMANGENOME_JCVI,PJP, 2 -,A, 3.000000,1.000000, 0.750000,0.250000, 732 chr21 19351050 19351052 rs56930967 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 BILGI_BIOE,GMI, 0 732 chr21 19351050 19351051 rs200799188 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19351051 19351052 rs77231979 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19351059 19351063 rs77850431 0 + AAAA AAAA -/AAAA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 BCMHGSC_JDW, 0 732 chr21 19351059 19351060 rs542365008 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 MixedObserved 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,C, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19351061 19351062 rs535449632 0 + A A A/C genomic single by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 1 1000GENOMES, 2 A,C, 4945.000000,63.000000, 0.987420,0.012580, 732 chr21 19351062 19351063 rs553859640 0 + A A A/C genomic single by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 4952.000000,56.000000, 0.988818,0.011182, 732 chr21 19351062 19351063 rs796403893 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 HGSV, 0 732 chr21 19351063 19351064 rs763896187 0 + C C A/C genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19351063 19351063 rs397961368 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 732 chr21 19351096 19351097 rs139646220 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4950.000000,58.000000, 0.988419,0.011582, 732 chr21 19351105 19351106 rs78305281 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19351107 19351108 rs197580 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.463126 0.13068 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3184.000000,1824.000000, 0.635783,0.364217, maf-5-some-pop,maf-5-all-pops 732 chr21 19351121 19351122 rs149738029 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 58.000000,4950.000000, 0.011582,0.988419, 732 chr21 19351132 19351133 rs145469809 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19351192 19351193 rs555946594 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19351203 19351204 rs75748819 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 83.000000,4925.000000, 0.016573,0.983427, maf-5-some-pop 732 chr21 19351211 19351212 rs148813449 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4950.000000,58.000000, 0.988419,0.011582, 732 chr21 19351222 19351223 rs191979539 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19351233 19351234 rs746614637 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19351234 19351235 rs865796898 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19351243 19351244 rs158000 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.324855 0.23853 intron exact 1 25 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1022.000000,3986.000000, 0.204073,0.795927, maf-5-some-pop 732 chr21 19351318 19351319 rs527368067 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19351338 19351339 rs143500659 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 58.000000,4950.000000, 0.011582,0.988419, 732 chr21 19351358 19351359 rs570588414 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19351377 19351378 rs748434588 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19351385 19351386 rs576277456 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19351392 19351393 rs531531182 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19351398 19351399 rs770334460 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19351412 19351413 rs146471095 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 58.000000,4950.000000, 0.011582,0.988419, 732 chr21 19351416 19351417 rs535173904 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19351425 19351426 rs567974472 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19351436 19351437 rs765162483 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19351437 19351438 rs535461449 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19351469 19351470 rs553724480 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19351479 19351480 rs140896730 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19351505 19351506 rs545021171 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 732 chr21 19351511 19351512 rs184579255 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19351523 19351524 rs576603318 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19351552 19351553 rs543984157 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19351564 19351565 rs556102600 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19351577 19351578 rs187050513 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19351704 19351705 rs559352302 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19351708 19351709 rs145122933 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19351760 19351761 rs759760798 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19351763 19351764 rs158001 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.455263 0.142713 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1755.000000,3253.000000, 0.350439,0.649561, maf-5-some-pop,maf-5-all-pops 732 chr21 19351770 19351771 rs527263493 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19351794 19351795 rs545626900 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19351818 19351819 rs158002 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.328383 0.237395 intron exact 1 21 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 1037.000000,3971.000000, 0.207069,0.792931, maf-5-some-pop,genotype-conflict 732 chr21 19351857 19351858 rs191856045 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19351923 19351924 rs138936324 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19351928 19351929 rs543706367 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19351930 19351931 rs141583171 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19351985 19351986 rs113614174 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19352000 19352001 rs757030322 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352002 19352003 rs765082502 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352028 19352029 rs370508280 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19352036 19352037 rs758346756 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352040 19352041 rs375023054 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19352051 19352052 rs529120017 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352136 19352137 rs150471429 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352169 19352170 rs779490750 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352183 19352184 rs565970856 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352212 19352213 rs138148831 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352265 19352266 rs551621435 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352284 19352285 rs746533594 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352320 19352321 rs570089661 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352330 19352331 rs189111072 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19352350 19352353 rs751221107 0 + GTT GTT -/GTT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19352408 19352409 rs773054436 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 732 chr21 19352423 19352424 rs79912537 0 + T T G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 732 chr21 19352424 19352424 rs59630058 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 732 chr21 19352425 19352426 rs62213022 0 + G G G/T genomic single by-cluster 0.5 0 intron exact 1 3 BCMHGSC_JDW,ENSEMBL,ILLUMINA, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19352459 19352460 rs780690532 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352486 19352487 rs149574447 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352494 19352495 rs368334719 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19352511 19352512 rs181074491 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19352513 19352514 rs371112144 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19352532 19352533 rs770281504 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352537 19352538 rs376040121 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19352567 19352568 rs535373963 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19352674 19352675 rs553680766 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352680 19352681 rs749761698 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19352681 19352682 rs530573947 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19352682 19352683 rs158003 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.031439 0.121371 intron exact 1 12 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,SC_SNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 732 chr21 19352683 19352684 rs545744704 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352694 19352695 rs542675430 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19352707 19352708 rs564030180 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352709 19352710 rs112955527 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19352735 19352736 rs1108858 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.272241 0.249009 intron exact 1 20 1000GENOMES,ABI,AFFY,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4194.000000,814.000000, 0.837460,0.162540, maf-5-some-pop 732 chr21 19352746 19352747 rs866485221 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19352760 19352761 rs147242992 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352766 19352767 rs561583063 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352778 19352779 rs529034301 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352787 19352788 rs139175796 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19352806 19352807 rs757785040 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19352810 19352811 rs77486711 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 732 chr21 19352817 19352818 rs559586716 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352842 19352843 rs147198510 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352846 19352847 rs551704815 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352852 19352853 rs185376623 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19352857 19352858 rs537507482 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19352874 19352875 rs867499568 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19352892 19352893 rs148655761 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 56.000000,4952.000000, 0.011182,0.988818, 732 chr21 19352922 19352923 rs564874793 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19352927 19352928 rs567886176 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19352986 19352987 rs142225885 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19353038 19353039 rs764956598 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353052 19353053 rs553400269 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353070 19353071 rs189357079 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 732 chr21 19353090 19353091 rs533293222 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19353099 19353100 rs539085846 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19353100 19353101 rs762838174 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353106 19353107 rs150786231 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353114 19353115 rs371855880 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19353117 19353118 rs527323499 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19353119 19353120 rs546938034 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19353129 19353130 rs766198746 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353130 19353131 rs181412113 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19353148 19353149 rs2897335 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.100231 0.200173 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4743.000000,265.000000, 0.947085,0.052915, maf-5-some-pop 732 chr21 19353163 19353164 rs530441871 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19353219 19353220 rs561442193 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353230 19353231 rs573543373 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19353273 19353274 rs540789283 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19353277 19353278 rs34691364 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19353280 19353281 rs780824071 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353303 19353304 rs139198780 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353308 19353309 rs752229918 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353326 19353327 rs76318406 0 + G G A/G genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 1 1000GENOMES, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 732 chr21 19353351 19353351 rs35724733 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19353353 19353354 rs541045114 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19353409 19353410 rs551500945 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19353411 19353412 rs10482893 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.135484 0.22223 intron exact 1 17 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4642.000000,366.000000, 0.926917,0.073083, maf-5-some-pop 732 chr21 19353429 19353430 rs778241156 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353444 19353445 rs749636858 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353457 19353459 rs5842668 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron range 1 2 1000GENOMES,LUNTER, 2 -,AT, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 732 chr21 19353458 19353460 rs3077806 0 + TA TA -/TA genomic deletion unknown 0 0 intron range 1 1 TSC-CSHL, 0 732 chr21 19353459 19353461 rs397866740 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 ABI, 0 732 chr21 19353459 19353460 rs771470883 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353463 19353464 rs125679 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.34101 0.232846 intron exact 1 24 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3916.000000,1092.000000, 0.781949,0.218051, maf-5-some-pop 732 chr21 19353494 19353495 rs71319666 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19353497 19353498 rs568978586 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 EVA-GONL, 0 732 chr21 19353497 19353497 rs547156119 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 intron between 1 DuplicateObserved 1 1000GENOMES, 2 -,A, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19353510 19353511 rs371282862 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WARNICH_LAB, 0 732 chr21 19353526 19353527 rs112869999 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19353545 19353546 rs144012135 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19353546 19353547 rs117503458 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19353569 19353570 rs547142066 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353617 19353618 rs372728416 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19353642 19353643 rs571860756 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19353657 19353658 rs771978805 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353660 19353661 rs539351304 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19353669 19353670 rs557346323 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353689 19353690 rs140925570 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19353690 19353691 rs143229978 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19353697 19353698 rs866097649 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19353715 19353716 rs555055393 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19353715 19353715 rs539289800 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 MixedObserved 1 1000GENOMES, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19353718 19353719 rs573356511 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19353755 19353756 rs145817160 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19353770 19353771 rs553100089 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353823 19353824 rs577748216 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19353827 19353828 rs545315962 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19353860 19353861 rs760837829 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353906 19353907 rs111619805 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19353911 19353912 rs557164603 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19353920 19353921 rs768899690 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353923 19353924 rs563431870 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19353924 19353925 rs143761670 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 55.000000,4953.000000, 0.010982,0.989018, 732 chr21 19353934 19353935 rs2824589 0 + T T C/T genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 T, 418.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 732 chr21 19353948 19353949 rs185944643 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19353950 19353951 rs766256933 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353958 19353959 rs148177542 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19353972 19353973 rs528560404 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19353978 19353979 rs759526307 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19353994 19353995 rs530753062 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19354003 19354004 rs546761254 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19354015 19354016 rs766884905 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354033 19354034 rs141089729 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19354062 19354063 rs553268497 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19354131 19354132 rs755723347 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354139 19354140 rs551294869 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19354160 19354161 rs146421977 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19354167 19354167 rs569236275 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.007559 0.061011 intron between 1 1 1000GENOMES, 2 -,T, 4989.000000,19.000000, 0.996206,0.003794, 732 chr21 19354178 19354179 rs776624203 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19354191 19354192 rs115922853 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19354195 19354195 rs35380487 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19354207 19354208 rs554917696 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19354216 19354217 rs567038897 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19354245 19354246 rs116221396 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4984.000000,24.000000, 0.995208,0.004792, 732 chr21 19354250 19354251 rs757556428 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354251 19354252 rs779339475 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354253 19354254 rs552772124 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19354265 19354266 rs746302575 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354276 19354277 rs189038029 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19354299 19354300 rs200172206 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19354306 19354307 rs544867337 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19354355 19354356 rs772657444 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354359 19354360 rs748239944 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19354361 19354362 rs139006697 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19354363 19354364 rs550880306 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19354389 19354390 rs866975286 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19354397 19354398 rs543058122 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19354420 19354421 rs143125880 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19354456 19354457 rs528451368 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19354468 19354469 rs769718030 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19354475 19354476 rs575733965 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19354490 19354491 rs181210953 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354507 19354508 rs567583261 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19354530 19354531 rs544404750 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19354552 19354553 rs369524348 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19354673 19354674 rs540765805 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19354717 19354718 rs565222643 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19354750 19354751 rs564245505 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19354772 19354773 rs560938257 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19354789 19354790 rs186716585 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19354837 19354838 rs773781948 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 732 chr21 19354842 19354845 rs144200598 0 + TTA TTA -/TTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron range 1 2 1000GENOMES,LUNTER, 2 -,TTA, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19354909 19354910 rs190780495 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19354956 19354957 rs182875574 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19354967 19354968 rs186311180 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19354996 19354997 rs191102353 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 732 chr21 19355007 19355010 rs140461134 0 + ATA ATA -/ATA genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19355013 19355016 rs752695294 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355013 19355014 rs760611502 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA_GENOME_DK, 0 732 chr21 19355014 19355016 rs772361347 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355037 19355038 rs397867753 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19355042 19355043 rs13049430 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19355084 19355085 rs368777180 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19355109 19355110 rs147473141 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19355114 19355115 rs566952062 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19355120 19355122 rs534068038 0 + TT TT -/TT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TT, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19355161 19355162 rs369910919 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19355184 19355185 rs73323246 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB, 2 C,T, 4953.000000,55.000000, 0.989018,0.010982, maf-5-some-pop 732 chr21 19355185 19355186 rs112439333 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19355194 19355194 rs572976879 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.03722 0.131242 intron between 1 1 1000GENOMES, 2 -,C, 4913.000000,95.000000, 0.981030,0.018970, maf-5-some-pop 732 chr21 19355196 19355197 rs546716597 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19355199 19355200 rs182940131 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19355200 19355201 rs571207187 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19355201 19355202 rs529665529 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19355224 19355225 rs540490905 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19355245 19355246 rs371680344 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19355247 19355248 rs774215491 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355253 19355254 rs557157288 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19355260 19355261 rs138589985 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19355282 19355283 rs197547 0 - C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 732 chr21 19355293 19355294 rs554898344 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19355346 19355347 rs187448991 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19355349 19355350 rs78636832 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19355356 19355357 rs192296702 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19355402 19355403 rs148491473 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19355438 19355439 rs753473824 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355465 19355466 rs544419448 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19355468 19355469 rs568841031 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19355578 19355579 rs115547579 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 732 chr21 19355582 19355583 rs530211130 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19355586 19355587 rs756947012 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355613 19355614 rs548518265 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19355626 19355627 rs765470529 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355656 19355657 rs750831716 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355662 19355663 rs182961407 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19355685 19355686 rs780517786 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355701 19355702 rs529817699 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19355703 19355704 rs144133641 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 732 chr21 19355718 19355719 rs551086283 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19355719 19355720 rs571334696 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19355733 19355734 rs570681039 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355760 19355761 rs753290672 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19355818 19355819 rs188274780 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19355892 19355893 rs192168569 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19355905 19355906 rs373044558 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19355906 19355907 rs564837998 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 -,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19355952 19355953 rs184534264 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19355967 19355968 rs770082662 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19356001 19356002 rs377309254 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19356002 19356003 rs145943669 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19356027 19356028 rs554910166 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19356054 19356055 rs773343135 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19356064 19356065 rs78155359 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, maf-5-some-pop 732 chr21 19356081 19356082 rs759046283 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19356088 19356089 rs534223822 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19356101 19356102 rs114818553 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19356115 19356116 rs61027422 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.304188 0.244057 intron exact 1 15 1000GENOMES,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4071.000000,937.000000, 0.812899,0.187101, maf-5-some-pop,maf-5-all-pops 732 chr21 19356138 19356139 rs775563056 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19356139 19356140 rs760692297 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19356198 19356199 rs139790740 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19356219 19356221 rs201263555 0 + GT GT -/GT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19356223 19356224 rs752245849 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19356227 19356230 rs543795393 0 + GTG GTG -/GTG genomic deletion by-frequency,by-1000genomes 0.010329 0.07112 intron range 1 1 1000GENOMES, 2 -,GTG, 26.000000,4982.000000, 0.005192,0.994808, 732 chr21 19356228 19356229 rs201801430 0 + T T -/T genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19356229 19356230 rs61591273 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.465391 0.126913 intron exact 1 13 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 3159.000000,1843.000000, 0.631547,0.368453, maf-5-some-pop,maf-5-all-pops 732 chr21 19356230 19356230 rs560700233 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.006469 0.056503 intron between 1 1 1000GENOMES, 2 -,G, 1843.000000,6.000000, 0.996755,0.003245, 732 chr21 19356236 19356237 rs796679995 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19356242 19356243 rs158011 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.463018 0.130857 intron exact 1 27 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3185.000000,1823.000000, 0.635982,0.364018, maf-5-some-pop,maf-5-all-pops 732 chr21 19356265 19356266 rs868471301 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19356269 19356270 rs776301767 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19356355 19356356 rs574733220 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19356395 19356396 rs541979630 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19356402 19356403 rs567200971 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19356417 19356418 rs751013662 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19356448 19356449 rs151181413 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19356465 19356466 rs758964041 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19356481 19356482 rs370698115 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19356482 19356483 rs546459487 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19356493 19356494 rs369277819 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19356519 19356520 rs158010 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.460589 0.13473 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1801.000000,3207.000000, 0.359625,0.640375, maf-5-some-pop,maf-5-all-pops 732 chr21 19356558 19356559 rs747403864 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19356559 19356560 rs140184932 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19356561 19356562 rs158009 0 - T T A/G genomic single by-cluster,by-frequency,by-1000genomes 0.460477 0.134905 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3208.000000,1800.000000, 0.640575,0.359425, maf-5-some-pop,maf-5-all-pops 732 chr21 19356598 19356599 rs370934489 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19356609 19356610 rs781451250 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19356639 19356640 rs189213313 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19356640 19356641 rs866073050 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19356716 19356717 rs158008 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.456332 0.141164 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1764.000000,3244.000000, 0.352236,0.647764, maf-5-some-pop,maf-5-all-pops 732 chr21 19356732 19356732 rs552858619 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19356737 19356738 rs868324785 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19356751 19356752 rs199713759 0 - G G A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19356759 19356760 rs533878826 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19356784 19356785 rs158007 0 - C C G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.459914 0.13578 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 3213.000000,1795.000000, 0.641573,0.358427, maf-5-some-pop,maf-5-all-pops 732 chr21 19356808 19356809 rs150044651 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19356872 19356873 rs573236019 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19356874 19356874 rs540478294 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 732 chr21 19356971 19356972 rs756194310 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19356980 19356981 rs192402359 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19356983 19356984 rs145324102 0 + G G G/T genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 1 1000GENOMES, 2 G,T, 4980.000000,28.000000, 0.994409,0.005591, 732 chr21 19357036 19357037 rs77502854 0 + T T C/T genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 732 chr21 19357109 19357110 rs868493172 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19357121 19357122 rs542033106 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19357207 19357208 rs371277241 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19357217 19357218 rs554105756 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19357247 19357248 rs184815478 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19357248 19357249 rs572577402 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357252 19357253 rs197548 0 - A A G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.489893 0.070364 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2860.000000,2148.000000, 0.571086,0.428914, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19357255 19357256 rs188892803 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357258 19357259 rs532153146 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357276 19357277 rs549561844 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19357277 19357278 rs367691580 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19357285 19357286 rs749537583 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357294 19357295 rs197549 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.489893 0.070364 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2860.000000,2148.000000, 0.571086,0.428914, maf-5-some-pop,maf-5-all-pops 732 chr21 19357320 19357320 rs34374048 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19357322 19357323 rs562590185 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19357342 19357343 rs146894844 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19357343 19357344 rs1546835 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.380138 0.213458 intron exact 1 24 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1278.000000,3730.000000, 0.255192,0.744808, maf-5-some-pop,maf-5-all-pops 732 chr21 19357344 19357345 rs73890877 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 732 chr21 19357352 19357353 rs201258244 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19357374 19357375 rs773962720 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19357378 19357379 rs197550 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.489893 0.070364 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2860.000000,2148.000000, 0.571086,0.428914, maf-5-some-pop,maf-5-all-pops 732 chr21 19357382 19357383 rs531225195 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19357395 19357396 rs552230425 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19357398 19357399 rs570685728 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357416 19357417 rs182167468 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,GMI,JMKIDD_LAB, 2 A,T, 21.000000,4987.000000, 0.004193,0.995807, 732 chr21 19357423 19357424 rs768745916 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19357426 19357427 rs569394080 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19357459 19357460 rs197551 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.489893 0.070364 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2860.000000,2148.000000, 0.571086,0.428914, maf-5-some-pop,maf-5-all-pops 732 chr21 19357460 19357461 rs568098097 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357471 19357472 rs760237578 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19357479 19357480 rs546916196 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357496 19357497 rs375174662 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19357503 19357504 rs769248002 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357537 19357538 rs139047410 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19357555 19357556 rs572591208 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19357556 19357557 rs114359521 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, 732 chr21 19357603 19357604 rs558167443 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19357629 19357630 rs866603982 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19357630 19357631 rs17769032 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.077417 0.180873 intron exact 1 16 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 G,T, 202.000000,4806.000000, 0.040335,0.959665, maf-5-some-pop,genotype-conflict 732 chr21 19357682 19357683 rs766676797 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357683 19357684 rs141496141 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 732 chr21 19357736 19357739 rs763301141 0 + TAG TAG -/TAG genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357758 19357759 rs759930225 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357769 19357770 rs767985596 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357789 19357790 rs12483463 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.370772 0.218893 intron exact 1 27 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3777.000000,1231.000000, 0.754193,0.245807, maf-5-some-pop 732 chr21 19357792 19357792 rs34637349 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19357798 19357799 rs756211952 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357809 19357810 rs574464805 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357814 19357815 rs541609767 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19357837 19357838 rs537200220 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 732 chr21 19357848 19357849 rs560184382 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19357855 19357856 rs111914301 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19357892 19357893 rs186177456 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19357901 19357902 rs865795239 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19357903 19357904 rs527504465 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19357965 19357966 rs777718093 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357973 19357974 rs754032928 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19357992 19357993 rs158006 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.453818 0.144769 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1743.000000,3265.000000, 0.348043,0.651957, maf-5-some-pop,maf-5-all-pops 732 chr21 19358005 19358006 rs779953869 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19358017 19358018 rs564061788 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19358018 19358019 rs189892810 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19358019 19358020 rs180747072 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19358075 19358076 rs373167983 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19358116 19358117 rs868418935 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19358200 19358200 rs139086028 0 + - - -/ACC genomic insertion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron between 1 2 1000GENOMES,LUNTER, 2 -,ACC, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19358270 19358271 rs535831553 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19358342 19358343 rs555800724 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19358382 19358383 rs547582820 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19358404 19358405 rs73194537 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19358446 19358447 rs539665275 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19358502 19358502 rs568390447 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19358512 19358513 rs558294503 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19358588 19358589 rs373150937 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19358589 19358590 rs143655461 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.065214 0.168387 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 169.000000,4839.000000, 0.033746,0.966254, maf-5-some-pop 732 chr21 19358618 19358619 rs537772704 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19358638 19358639 rs112815806 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19358674 19358675 rs376331767 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19358676 19358676 rs34570794 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19358684 19358685 rs538246336 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19358692 19358693 rs769284291 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19358701 19358702 rs772615542 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19358705 19358706 rs558278880 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19358707 19358707 rs34686540 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19358740 19358741 rs574527946 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19358759 19358760 rs197552 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493432 0.056931 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2791.000000,2217.000000, 0.557308,0.442692, maf-5-some-pop,maf-5-all-pops 732 chr21 19358761 19358762 rs774037578 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19358888 19358889 rs559996482 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19358894 19358895 rs373997598 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19358900 19358901 rs141885669 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 4 1000GENOMES,EVA_GENOME_DK,JMKIDD_LAB,SSMP, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, 732 chr21 19358905 19358906 rs545563670 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19358913 19358914 rs533957916 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19358915 19358916 rs749402122 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19358925 19358926 rs563967646 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19358963 19358964 rs197553 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493432 0.056931 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2791.000000,2217.000000, 0.557308,0.442692, maf-5-some-pop,maf-5-all-pops 732 chr21 19358988 19358989 rs778980592 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19358991 19358992 rs185407064 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359008 19359009 rs753178982 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359020 19359021 rs138014803 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19359049 19359050 rs761098339 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359052 19359053 rs745614543 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19359098 19359099 rs374509036 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19359109 19359110 rs113768618 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359115 19359116 rs532031134 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19359121 19359122 rs377549324 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19359135 19359136 rs566053259 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19359144 19359145 rs370088538 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19359149 19359150 rs753895629 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359179 19359180 rs539958535 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19359195 19359196 rs77685078 0 + A A A/C genomic single by-1000genomes 0.016528 0.089391 intron exact 1 1 1000GENOMES, 2 A,C, 119.000000,1.000000, 0.991667,0.008333, 732 chr21 19359203 19359204 rs551886548 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19359206 19359207 rs757453261 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359207 19359208 rs779255365 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359216 19359217 rs750734455 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359229 19359230 rs197554 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.305186 0.243833 intron exact 1 MixedObserved 34 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 941.000000,4067.000000, 0.187899,0.812101, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19359229 19359230 rs112073691 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 1 BUSHMAN, 1 -, 2.000000, 1.000000, 732 chr21 19359250 19359251 rs537635142 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359315 19359317 rs149939082 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron range 1 MixedObserved 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,AT, 59.000000,4949.000000, 0.011781,0.988219, 732 chr21 19359315 19359316 rs556106336 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19359344 19359345 rs567903760 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19359366 19359368 rs375074128 0 + GA GA -/GA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19359380 19359381 rs748063705 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359413 19359414 rs535126054 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19359454 19359463 rs756910958 0 + GTTATAGCT GTTATAGCT -/GTTATAGCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359463 19359464 rs189966849 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359489 19359490 rs571924097 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359500 19359501 rs142671174 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19359527 19359528 rs376932651 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19359561 19359562 rs370356014 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19359586 19359587 rs557420766 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359594 19359595 rs80172874 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 6 1000GENOMES,EVA_GENOME_DK,GMI,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 732 chr21 19359597 19359598 rs543164323 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359636 19359637 rs748769577 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359684 19359685 rs112188524 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19359722 19359723 rs146015763 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19359735 19359739 rs538441389 0 + CTAC CTAC -/CTAC genomic deletion by-frequency,by-1000genomes 0.005972 0.054319 intron range 1 1 1000GENOMES, 2 -,CTAC, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19359738 19359742 rs369222401 0 + CCTA CCTA -/CCTA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19359743 19359744 rs775944877 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19359771 19359772 rs560919481 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19359786 19359787 rs529150025 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359793 19359794 rs77625970 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19359873 19359874 rs745521969 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359876 19359877 rs559728699 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19359940 19359941 rs766791855 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19359943 19359944 rs200213855 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.064842 0.167978 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,A, 168.000000,4840.000000, 0.033546,0.966454, maf-5-some-pop 732 chr21 19359951 19359952 rs772421095 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359955 19359956 rs775738391 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19359986 19359987 rs574624752 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360004 19360005 rs551947772 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360056 19360057 rs570126230 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360084 19360085 rs761203944 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19360141 19360142 rs139969340 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19360154 19360155 rs777245128 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19360161 19360162 rs549572338 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19360165 19360166 rs183318376 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360166 19360167 rs186564560 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19360167 19360168 rs191391859 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19360170 19360171 rs565707847 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19360183 19360184 rs370474275 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19360191 19360192 rs765481130 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19360255 19360256 rs539005487 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360257 19360258 rs750608050 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19360259 19360260 rs34122794 0 + C C C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 1 ABI, 0 732 chr21 19360261 19360262 rs35079298 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19360273 19360274 rs76925704 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4976.000000,32.000000, 0.993610,0.006390, 732 chr21 19360357 19360358 rs73890878 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,G, 4950.000000,58.000000, 0.988419,0.011582, 732 chr21 19360379 19360380 rs543228016 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360385 19360385 rs34655608 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.493477 0.056735 intron between 1 16 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PADH-LAB_SPU,SSIP,SSMP, 2 -,T, 2218.000000,2790.000000, 0.442891,0.557109, maf-5-some-pop,maf-5-all-pops 732 chr21 19360393 19360394 rs555175696 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360416 19360417 rs141573076 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4910.000000,98.000000, 0.980431,0.019569, maf-5-some-pop 732 chr21 19360441 19360442 rs541364302 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360442 19360443 rs144432902 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,EVA_GENOME_DK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360449 19360450 rs148436577 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360453 19360454 rs545376221 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19360455 19360456 rs67487312 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.277334 0.248501 intron exact 1 13 1000GENOMES,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4175.000000,833.000000, 0.833666,0.166334, maf-5-some-pop 732 chr21 19360494 19360495 rs530993444 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19360507 19360508 rs549605720 0 + T T A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19360577 19360578 rs183710137 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19360588 19360589 rs567895504 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360609 19360610 rs528667738 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19360634 19360635 rs547280174 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19360646 19360647 rs571800007 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360700 19360701 rs35581853 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 ABI,GMI,WEILL_CORNELL_DGM, 0 732 chr21 19360700 19360700 rs752316571 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 732 chr21 19360701 19360702 rs201543089 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19360701 19360701 rs370827273 0 + - - -/TCC genomic insertion by-cluster 0 0 intron between 1 1 LUNTER, 0 732 chr21 19360704 19360705 rs200159124 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 BILGI_BIOE,GMI,WEILL_CORNELL_DGM, 0 732 chr21 19360710 19360711 rs201076340 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 GMI,WEILL_CORNELL_DGM, 0 732 chr21 19360711 19360712 rs197555 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.355525 0.226637 intron exact 1 12 1000GENOMES,BL,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,KWOK,PJP,SSAHASNP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3850.000000,1158.000000, 0.768770,0.231230, maf-5-some-pop,maf-5-all-pops 732 chr21 19360711 19360711 rs538395989 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 732 chr21 19360718 19360718 rs553431998 0 + - - -/TG genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 732 chr21 19360719 19360719 rs140718106 0 + - - -/TA/TTA genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 5 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,LUNTER,SSMP, 0 732 chr21 19360720 19360721 rs550924921 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 MixedObserved 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19360720 19360720 rs35200840 0 + - - -/AT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 732 chr21 19360746 19360747 rs868563398 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19360760 19360761 rs187841187 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19360773 19360774 rs551830911 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19360820 19360821 rs200044878 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19360836 19360837 rs555168447 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19360857 19360858 rs201161065 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19360863 19360864 rs571746890 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19360865 19360866 rs28602242 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19360866 19360867 rs28620927 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19360877 19360878 rs534255661 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19360940 19360941 rs553992775 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19360945 19360946 rs9976474 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.34303 0.232046 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3907.000000,1101.000000, 0.780152,0.219848, maf-5-some-pop,maf-5-all-pops 732 chr21 19360961 19360962 rs197556 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49168 0.063958 intron exact 1 16 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,GMI,HAMMER_LAB,HGSV,KWOK,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2827.000000,2181.000000, 0.564497,0.435503, maf-5-some-pop,maf-5-all-pops 732 chr21 19360983 19360984 rs553237373 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361032 19361033 rs112840874 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19361050 19361051 rs192953032 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361084 19361085 rs371316755 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19361106 19361107 rs563709034 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19361110 19361111 rs197557 0 - G G C/T genomic single by-cluster,by-frequency,by-hapmap 0.486111 0.082168 intron exact 1 19 ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,KWOK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 5.000000,7.000000, 0.416667,0.583333, 732 chr21 19361137 19361138 rs191053304 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,MPI_MOLGEN, 0 732 chr21 19361156 19361157 rs71319667 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,ENSEMBL,EVA-GONL,HUMANGENOME_JCVI,PJP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19361163 19361164 rs543183579 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19361177 19361178 rs865776927 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19361181 19361182 rs183110528 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361184 19361185 rs186603384 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19361197 19361198 rs528687311 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19361199 19361200 rs191430129 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 6 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 100.000000,4908.000000, 0.019968,0.980032, maf-5-some-pop 732 chr21 19361229 19361230 rs565585761 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19361230 19361231 rs532700008 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19361239 19361240 rs202428 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.456332 0.141164 intron exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1764.000000,3244.000000, 0.352236,0.647764, maf-5-some-pop,maf-5-all-pops 732 chr21 19361279 19361280 rs569361547 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19361297 19361298 rs536642437 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361323 19361324 rs375747380 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19361418 19361419 rs549074191 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361493 19361494 rs147969813 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19361502 19361503 rs867425823 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19361513 19361514 rs141851077 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 732 chr21 19361520 19361521 rs150412355 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19361542 19361543 rs117905085 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4989.000000,19.000000, 0.996206,0.003794, 732 chr21 19361549 19361550 rs538963953 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 G,T, 17.000000,4991.000000, 0.003395,0.996605, 732 chr21 19361550 19361551 rs184685485 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19361577 19361578 rs189346219 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19361585 19361586 rs145177556 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19361647 19361648 rs542609673 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361720 19361721 rs529485622 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19361726 19361727 rs561455153 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19361747 19361748 rs549351578 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19361762 19361763 rs149168313 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19361766 19361767 rs376959893 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19361788 19361789 rs143267005 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19361793 19361794 rs565365521 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19361852 19361853 rs749287475 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19361860 19361861 rs532561329 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19361866 19361867 rs756687284 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19361883 19361884 rs138025814 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19361896 19361897 rs562802775 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361922 19361923 rs530431540 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19361927 19361928 rs142609074 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19361932 19361933 rs197558 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.492871 0.059277 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 2205.000000,2803.000000, 0.440296,0.559704, maf-5-some-pop,maf-5-all-pops 732 chr21 19361964 19361965 rs796233268 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 732 chr21 19362002 19362003 rs78566196 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 44.000000,4964.000000, 0.008786,0.991214, 732 chr21 19362026 19362027 rs747314395 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19362045 19362046 rs367692720 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19362046 19362047 rs192828330 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19362049 19362052 rs372689163 0 + GGC GGC -/GGC genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19362071 19362072 rs769123194 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19362075 19362076 rs185353762 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19362087 19362088 rs57993017 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19362102 19362103 rs762417101 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19362116 19362117 rs866450739 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19362122 19362123 rs79527431 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 732 chr21 19362129 19362130 rs75663595 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 42.000000,4966.000000, 0.008387,0.991613, 732 chr21 19362139 19362140 rs57704684 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HGSV, 0 732 chr21 19362147 19362148 rs138776988 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4899.000000,109.000000, 0.978235,0.021765, maf-5-some-pop 732 chr21 19362161 19362162 rs533951677 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19362163 19362164 rs376888923 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19362182 19362183 rs371503687 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19362267 19362268 rs536663231 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19362288 19362289 rs117931498 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19362304 19362305 rs768411192 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19362311 19362312 rs150210 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.481242 0.095011 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2019.000000,2989.000000, 0.403155,0.596845, maf-5-some-pop,maf-5-all-pops,microattr-tpa,genotype-conflict 732 chr21 19362353 19362354 rs158013 0 - G G A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.312348 0.242101 intron exact 1 20 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SC_SNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop 732 chr21 19362365 19362366 rs141827200 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19362398 19362399 rs577034081 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19362406 19362407 rs158012 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.325799 0.238232 intron exact 1 22 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3982.000000,1026.000000, 0.795128,0.204872, maf-5-some-pop 732 chr21 19362447 19362448 rs189467182 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19362451 19362452 rs530297151 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19362487 19362488 rs772627854 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19362509 19362510 rs56271411 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.300169 0.244914 intron exact 1 13 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4087.000000,921.000000, 0.816094,0.183906, maf-5-some-pop 732 chr21 19362518 19362519 rs538518456 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19362526 19362527 rs560751546 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19362533 19362534 rs528088066 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19362672 19362673 rs9637043 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,SC_SNP,SSMP, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19362679 19362680 rs768022531 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19362688 19362689 rs197559 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.492237 0.061815 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 2192.000000,2816.000000, 0.437700,0.562300, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19362700 19362701 rs60831474 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 4 1000GENOMES,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 732 chr21 19362714 19362715 rs868006268 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19362743 19362744 rs181220124 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19362745 19362746 rs571659275 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19362746 19362747 rs200279481 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19362759 19362760 rs569054570 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19362761 19362762 rs368522823 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19362767 19362768 rs372832239 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19362850 19362851 rs554842931 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19362851 19362852 rs377306787 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 732 chr21 19362864 19362865 rs371838098 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19362878 19362879 rs534158074 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19362902 19362903 rs764265923 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19362915 19362916 rs558630899 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19362925 19362926 rs576901258 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19362941 19362942 rs746743417 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19362965 19362966 rs149486549 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WARNICH_LAB,WEILL_CORNELL_DGM, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 732 chr21 19362998 19362999 rs143915482 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19363026 19363027 rs543180901 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363028 19363029 rs574954357 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19363040 19363041 rs770459145 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363041 19363042 rs140399965 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19363044 19363045 rs184299055 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19363065 19363066 rs528076877 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19363066 19363067 rs184050 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.337614 0.234145 intron exact 1 16 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1077.000000,3931.000000, 0.215056,0.784944, maf-5-some-pop 732 chr21 19363068 19363069 rs112523148 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19363076 19363077 rs532277383 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19363094 19363095 rs550671107 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19363112 19363112 rs35675436 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19363134 19363135 rs562586169 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19363144 19363144 rs34495020 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19363151 19363152 rs545678824 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19363197 19363198 rs529887636 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19363204 19363205 rs771104905 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363210 19363211 rs371778045 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19363256 19363257 rs376746401 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19363261 19363262 rs181070958 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19363267 19363268 rs750475733 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19363290 19363291 rs35063569 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19363301 19363302 rs551817997 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19363305 19363306 rs552120878 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19363331 19363332 rs570496889 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19363368 19363369 rs565582746 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363373 19363374 rs527684351 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363407 19363408 rs763825945 0 + A A A/G genomic single unknown 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 0 732 chr21 19363493 19363494 rs73194557 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.198944 0.244731 intron exact 1 12 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4447.000000,561.000000, 0.887979,0.112021, maf-5-some-pop 732 chr21 19363514 19363515 rs186301907 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19363517 19363518 rs574975986 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19363547 19363548 rs192358052 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19363580 19363581 rs567733754 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19363598 19363599 rs761635013 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363638 19363639 rs765137554 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363700 19363701 rs754860171 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19363727 19363728 rs369624136 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19363747 19363749 rs375991414 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19363777 19363778 rs750432780 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363783 19363784 rs757842769 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363858 19363859 rs554189685 0 + T T G/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 G,T, 11.000000,4997.000000, 0.002196,0.997804, 732 chr21 19363859 19363860 rs572664454 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19363869 19363870 rs197560 0 - T T A/C genomic single by-cluster,by-frequency,by-1000genomes 0.4941 0.053992 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2232.000000,2776.000000, 0.445687,0.554313, maf-5-some-pop,maf-5-all-pops 732 chr21 19363891 19363892 rs747795487 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19363896 19363897 rs197561 0 - A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.492386 0.06123 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2813.000000,2195.000000, 0.561701,0.438299, maf-5-some-pop,maf-5-all-pops 732 chr21 19363916 19363917 rs197562 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.492337 0.061425 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2814.000000,2194.000000, 0.561901,0.438099, maf-5-some-pop,maf-5-all-pops 732 chr21 19363932 19363933 rs181537798 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19363936 19363937 rs772718840 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19363975 19363977 rs199665928 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.4862 0.081913 intron range 1 MixedObserved 2 1000GENOMES,GMI, 2 -,TT, 2088.000000,2920.000000, 0.416933,0.583067, maf-5-some-pop,maf-5-all-pops 732 chr21 19363975 19363976 rs377176982 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 732 chr21 19363975 19363978 rs769188488 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363976 19363978 rs761226126 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19363992 19363993 rs35600353 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19364003 19364004 rs186876238 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 18.000000,4990.000000, 0.003594,0.996406, 732 chr21 19364007 19364008 rs529854155 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19364020 19364021 rs373427016 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19364024 19364025 rs562139601 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19364086 19364087 rs149788 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.492337 0.061425 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2814.000000,2194.000000, 0.561901,0.438099, maf-5-some-pop,maf-5-all-pops 732 chr21 19364130 19364131 rs748496432 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19364220 19364221 rs560206479 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19364224 19364225 rs368899263 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19364226 19364227 rs770336439 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19364237 19364238 rs144867563 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19364259 19364260 rs147926524 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 732 chr21 19364292 19364293 rs778416852 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19364354 19364355 rs112502295 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19364365 19364367 rs370666344 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19364374 19364375 rs558425201 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19364434 19364435 rs372569611 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19364448 19364449 rs549874090 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19364503 19364504 rs530206377 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19364506 19364506 rs532294451 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19364516 19364517 rs191719537 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19364523 19364524 rs140225459 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19364539 19364540 rs774509108 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19364581 19364582 rs572523650 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19364655 19364656 rs540180517 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19364658 19364659 rs182487664 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19364675 19364676 rs375887801 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19364691 19364692 rs866388622 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19364697 19364698 rs377628569 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19364719 19364720 rs576916230 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19364759 19364760 rs544182372 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19364761 19364762 rs562468034 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19364765 19364766 rs759635325 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19364855 19364856 rs547176644 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19364861 19364862 rs187174360 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19364885 19364886 rs571921526 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19364900 19364900 rs750911944 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19364904 19364905 rs541548392 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19364940 19364941 rs534594936 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19364965 19364966 rs189523213 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19365030 19365031 rs370799835 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19365031 19365034 rs145512630 0 + GTT GTT -/GTT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 4 1000GENOMES,DDI,EVA_DECODE,PJP, 0 732 chr21 19365032 19365043 rs374284013 0 + TTGTTTTTTTT TTGTTTTTTTT -/TTGTTTTTTTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 LUNTER,SSMP, 0 732 chr21 19365032 19365042 rs565969474 0 + TTGTTTTTTT TTGTTTTTTT -/TTGTTTTTTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 PADH-LAB_SPU,SSIP, 0 732 chr21 19365033 19365035 rs200904379 0 + TG TG -/TG genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19365033 19365033 rs745367136 0 + - - -/TG genomic insertion unknown 0 0 intron between 1 1 DDI, 0 732 chr21 19365034 19365035 rs197563 0 + G G G/T genomic single by-cluster 0.32 0.24 intron exact 1 MixedObserved 7 BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,GMI,HAMMER_LAB,ILLUMINA-UK,KWOK, 2 G,T, 1.000000,4.000000, 0.200000,0.800000, 732 chr21 19365034 19365045 rs753373744 0 + GTTTTTTTTTT GTTTTTTTTTT -/GTTTTTTTTTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_GENOME_DK, 0 732 chr21 19365046 19365046 rs780424593 0 + - - -/TG genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 732 chr21 19365051 19365061 rs749433816 0 + TTTTTTTTTC TTTTTTTTTC -/TTTTTTTTTC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 732 chr21 19365052 19365061 rs779314325 0 + TTTTTTTTC TTTTTTTTC -/TTTTTTTTC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 732 chr21 19365059 19365060 rs533903824 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19365060 19365061 rs67033737 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 2 DDI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19365060 19365061 rs111889106 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 3 BL,BUSHMAN,GMI, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19365063 19365064 rs201814010 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19365065 19365066 rs560324586 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365075 19365076 rs866908305 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19365087 19365088 rs182241240 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19365095 19365096 rs545733717 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365096 19365096 rs34227386 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19365168 19365169 rs567129684 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,JMKIDD_LAB, 0 732 chr21 19365187 19365188 rs564000373 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365223 19365224 rs772250214 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365226 19365227 rs531617564 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19365227 19365228 rs761581889 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365229 19365230 rs370755737 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19365257 19365258 rs550113479 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365260 19365261 rs762031659 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 732 chr21 19365261 19365262 rs568346599 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19365265 19365266 rs532845825 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19365268 19365269 rs547568798 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365269 19365270 rs566315589 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19365273 19365274 rs188651477 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19365330 19365331 rs558492054 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19365348 19365349 rs440624 0 - T T A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.296364 0.245663 intron exact 1 22 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4102.000000,906.000000, 0.819089,0.180911, maf-5-some-pop 732 chr21 19365362 19365363 rs765759325 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365370 19365371 rs115852020 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19365386 19365387 rs193276697 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19365396 19365397 rs368682989 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 732 chr21 19365406 19365407 rs185673394 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19365407 19365408 rs541955738 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19365424 19365425 rs142961848 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19365444 19365445 rs571920685 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365454 19365454 rs557099854 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 732 chr21 19365461 19365461 rs773588290 0 + - - -/C genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365464 19365465 rs545547820 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19365487 19365488 rs151038238 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19365497 19365498 rs780939373 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365498 19365499 rs446138 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.495781 0.045732 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2734.000000,2274.000000, 0.545927,0.454073, maf-5-some-pop,maf-5-all-pops 732 chr21 19365511 19365512 rs422595 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.296109 0.245711 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 905.000000,4103.000000, 0.180711,0.819289, maf-5-some-pop,maf-5-all-pops 732 chr21 19365518 19365519 rs562159607 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365529 19365530 rs200107723 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19365530 19365530 rs72550487 0 + - - -/T/TT genomic insertion by-cluster,by-frequency,by-1000genomes 0.494568 0.051833 intron between 1 InconsistentAlleles 13 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,PJP,SSMP, 2 -,T, 2765.000000,2243.000000, 0.552117,0.447883, maf-5-some-pop,maf-5-all-pops 732 chr21 19365536 19365537 rs78144096 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BL, 0 732 chr21 19365536 19365536 rs34143918 0 + - - -/A/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved,SingleAlleleFreq 6 1000GENOMES,ABI,GMI,HGSV,HUMANGENOME_JCVI,PJP, 1 T, 2.000000, 1.000000, 732 chr21 19365540 19365541 rs147230871 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 732 chr21 19365542 19365543 rs112713436 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 732 chr21 19365545 19365546 rs140909744 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19365551 19365552 rs547387328 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19365571 19365572 rs780972877 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19365636 19365637 rs749739599 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365680 19365681 rs796960086 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19365681 19365682 rs188601288 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19365706 19365707 rs116091503 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19365718 19365719 rs192986065 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19365725 19365726 rs570249935 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365766 19365767 rs368565717 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19365817 19365818 rs537780274 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19365828 19365829 rs115558116 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, maf-5-some-pop 732 chr21 19365848 19365849 rs150191784 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19365853 19365854 rs772154045 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365875 19365876 rs535067221 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365883 19365884 rs184159724 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19365894 19365895 rs775622909 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365896 19365897 rs747297296 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365897 19365898 rs146828856 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01546 0.0866 intron exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 3 A,C,T, 37.000000,4969.000000,2.000000, 0.007388,0.992212,0.000399, 732 chr21 19365933 19365934 rs557559135 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19365954 19365955 rs140597284 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19365981 19365982 rs543737711 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19365986 19365987 rs774175102 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19365996 19365997 rs188712738 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366002 19366004 rs527695995 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 1 1000GENOMES, 2 -,AT, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19366027 19366028 rs111460191 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19366039 19366040 rs573980013 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19366098 19366099 rs759054744 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366147 19366148 rs144808118 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19366149 19366150 rs767206923 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366197 19366198 rs180739076 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19366287 19366288 rs533501884 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366302 19366303 rs138648546 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19366340 19366341 rs755883420 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366344 19366345 rs567379932 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19366354 19366355 rs563921372 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366443 19366444 rs183870420 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19366460 19366461 rs368320614 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19366468 19366469 rs112020561 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19366472 19366473 rs200876955 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19366473 19366474 rs201993480 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19366474 19366474 rs58780523 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0.000399 0.014124 intron between 1 16 1000GENOMES,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366476 19366476 rs397775874 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 732 chr21 19366478 19366479 rs113862065 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19366484 19366485 rs747477733 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19366485 19366486 rs769051794 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19366557 19366558 rs549660838 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366568 19366569 rs764337053 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366608 19366609 rs549823341 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19366642 19366643 rs754192649 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366646 19366647 rs2824590 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.369754 0.219451 intron exact 1 28 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1226.000000,3782.000000, 0.244808,0.755192, maf-5-some-pop,genotype-conflict 732 chr21 19366675 19366676 rs372071505 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19366688 19366689 rs148906950 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19366693 19366694 rs143582302 0 + C C A/C genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,C, 19.000000,4989.000000, 0.003794,0.996206, 732 chr21 19366768 19366769 rs565313008 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366778 19366779 rs746379719 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366796 19366797 rs539191775 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19366802 19366802 rs138761394 0 + - - -/G genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 732 chr21 19366803 19366804 rs557418811 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366805 19366805 rs146754825 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 732 chr21 19366828 19366829 rs758467814 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366843 19366844 rs147982399 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19366862 19366862 rs140551382 0 + - - -/GA genomic insertion by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron between 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,GA, 4963.000000,45.000000, 0.991014,0.008986, 732 chr21 19366873 19366874 rs762144731 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19366874 19366875 rs551986352 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19366913 19366914 rs189280340 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366926 19366927 rs555654786 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19366928 19366929 rs182315012 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19366942 19366943 rs780165141 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366946 19366947 rs573821598 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19366947 19366948 rs57906280 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.054348 0.155628 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 140.000000,4868.000000, 0.027955,0.972045, maf-5-some-pop 732 chr21 19366957 19366958 rs768903960 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19366990 19366991 rs559813439 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 732 chr21 19367000 19367001 rs141654961 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19367035 19367036 rs536388378 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,C, 4964.000000,44.000000, 0.991214,0.008786, 732 chr21 19367036 19367037 rs556320922 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19367062 19367063 rs531139162 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367063 19367064 rs548479015 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19367124 19367125 rs147138095 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19367126 19367127 rs759609478 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367179 19367180 rs561515326 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367189 19367190 rs767116820 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367202 19367203 rs13046526 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.301932 0.244547 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 928.000000,4080.000000, 0.185304,0.814696, maf-5-some-pop,maf-5-all-pops 732 chr21 19367203 19367204 rs138761115 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19367280 19367284 rs772514007 0 + TTTG TTTG -/TTTG genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 732 chr21 19367299 19367300 rs577056705 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19367312 19367313 rs116646470 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19367335 19367336 rs539005554 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19367337 19367338 rs753447850 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367370 19367371 rs551063933 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367371 19367372 rs142741725 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 732 chr21 19367389 19367390 rs147516665 0 + A A A/G genomic single by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19367391 19367392 rs140038745 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19367393 19367394 rs561582473 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19367429 19367430 rs750915226 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367475 19367476 rs573758135 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367476 19367477 rs73890880 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 100.000000,4908.000000, 0.019968,0.980032, maf-5-some-pop 732 chr21 19367491 19367492 rs187377888 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19367502 19367503 rs868397820 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19367507 19367508 rs576183828 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19367508 19367509 rs150061875 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367524 19367525 rs2824591 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.492775 0.059668 intron exact 1 26 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2203.000000,2805.000000, 0.439896,0.560104, maf-5-some-pop,maf-5-all-pops 732 chr21 19367531 19367532 rs144414691 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19367544 19367545 rs543083756 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367547 19367548 rs191814658 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19367554 19367555 rs115104779 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,ILLUMINA,TISHKOFF, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19367557 19367558 rs753618051 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367563 19367564 rs540531988 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19367569 19367569 rs34007343 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19367598 19367599 rs781414092 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367617 19367618 rs377005689 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19367626 19367627 rs565191109 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367635 19367637 rs386816720 0 + TC TC AT/TC genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 732 chr21 19367635 19367636 rs532786448 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19367636 19367637 rs550926834 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19367653 19367654 rs748318316 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367669 19367669 rs35995592 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19367755 19367756 rs181555942 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 732 chr21 19367768 19367769 rs2824592 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.298398 0.245271 intron exact 1 22 1000GENOMES,AFFY,BCM_SSAHASNP,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 914.000000,4094.000000, 0.182508,0.817492, maf-5-some-pop,maf-5-all-pops 732 chr21 19367804 19367805 rs532783583 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19367839 19367840 rs373349245 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19367842 19367843 rs185317087 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19367870 19367871 rs745772827 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367890 19367891 rs148794281 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19367935 19367936 rs772098375 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367977 19367978 rs775593575 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19367978 19367979 rs117605266 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 732 chr21 19367990 19367991 rs114636153 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19368056 19368057 rs768056606 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368068 19368069 rs571540645 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368085 19368086 rs539051981 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368094 19368095 rs557102518 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368121 19368122 rs776342967 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368129 19368130 rs190177610 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19368136 19368137 rs563425905 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368187 19368188 rs532497672 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368219 19368220 rs750825231 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368227 19368228 rs142290368 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19368229 19368230 rs555004499 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368360 19368361 rs569589474 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19368368 19368369 rs766820062 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368369 19368370 rs146780337 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19368394 19368394 rs536411459 0 + - - -/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,TTT, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19368414 19368415 rs373143108 0 + C C C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 732 chr21 19368422 19368423 rs755014863 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368424 19368425 rs182115416 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19368431 19368432 rs538908284 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,G, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19368450 19368451 rs140622344 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19368451 19368452 rs558539202 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 732 chr21 19368461 19368462 rs563184449 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368488 19368489 rs778174034 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368498 19368499 rs530518896 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19368524 19368525 rs8130586 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.069301 0.172766 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4828.000000,180.000000, 0.964058,0.035942, maf-5-some-pop 732 chr21 19368533 19368534 rs144256105 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 40.000000,4968.000000, 0.007987,0.992013, 732 chr21 19368536 19368537 rs528319360 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368575 19368576 rs546784898 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368578 19368579 rs571453348 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368609 19368610 rs146728325 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19368611 19368612 rs2824593 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.381503 0.21262 intron exact 1 21 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 3723.000000,1285.000000, 0.743411,0.256589, maf-5-some-pop,maf-5-all-pops 732 chr21 19368617 19368618 rs2824594 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.295343 0.245854 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4106.000000,902.000000, 0.819888,0.180112, maf-5-some-pop,maf-5-all-pops 732 chr21 19368637 19368638 rs12162586 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SC_SNP, 0 732 chr21 19368699 19368700 rs536598717 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368710 19368711 rs187789959 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19368736 19368737 rs140251292 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19368755 19368756 rs150349420 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19368784 19368787 rs750094217 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368802 19368803 rs73323271 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 732 chr21 19368864 19368865 rs577021034 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19368889 19368890 rs572507574 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19368901 19368902 rs112469593 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19368902 19368903 rs535225031 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19368906 19368907 rs554953598 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368909 19368910 rs117980191 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 732 chr21 19368966 19368967 rs190920133 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19368970 19368971 rs149108278 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19368977 19368978 rs774831231 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368978 19368979 rs760015223 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19368986 19368987 rs113043991 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19369000 19369001 rs158081 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.432063 0.171327 intron exact 1 32 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1581.000000,3427.000000, 0.315695,0.684305, maf-5-some-pop 732 chr21 19369025 19369026 rs145800111 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19369051 19369052 rs13053038 0 + A A A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 A, 414.000000, 1.000000, 732 chr21 19369057 19369058 rs138632207 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19369067 19369068 rs158080 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.454664 0.143571 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1750.000000,3258.000000, 0.349441,0.650559, maf-5-some-pop,maf-5-all-pops 732 chr21 19369100 19369101 rs758265076 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369106 19369107 rs369717760 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19369148 19369149 rs368041612 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19369173 19369174 rs550600575 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19369202 19369203 rs569105235 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19369214 19369215 rs572393602 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19369234 19369235 rs548596863 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19369263 19369264 rs372349315 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19369266 19369267 rs780053683 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369287 19369288 rs746943414 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369313 19369314 rs142762076 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 732 chr21 19369329 19369330 rs188963373 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 MixedObserved 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 47.000000,4961.000000, 0.009385,0.990615, 732 chr21 19369329 19369329 rs555262844 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron between 1 MixedObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,A, 4980.000000,28.000000, 0.994409,0.005591, 732 chr21 19369363 19369364 rs376015641 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19369402 19369403 rs747561646 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369510 19369510 rs576611294 0 + - - -/TT genomic insertion by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron between 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,SSMP, 2 -,TT, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19369512 19369513 rs769304302 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369518 19369519 rs147365437 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19369525 19369526 rs191968514 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19369582 19369583 rs369083718 0 + C C A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19369594 19369595 rs556604452 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19369648 19369649 rs575045590 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19369666 19369666 rs530857153 0 + - - -/TG genomic insertion by-cluster 0 0 intron between 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369687 19369688 rs542145251 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19369694 19369695 rs148006177 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WARNICH_LAB,WEILL_CORNELL_DGM, 2 A,T, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19369719 19369720 rs572864718 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19369740 19369741 rs150662619 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19369741 19369742 rs184591732 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369760 19369761 rs140015486 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19369769 19369770 rs149843999 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19369771 19369772 rs369202528 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19369785 19369786 rs748553272 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369805 19369806 rs146307122 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19369855 19369855 rs34280789 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19369904 19369905 rs776079358 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369925 19369926 rs760606416 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19369955 19369956 rs139472380 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19369956 19369957 rs144298398 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 732 chr21 19369977 19369978 rs548075015 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19370018 19370019 rs566600881 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19370024 19370025 rs78546769 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4844.000000,164.000000, 0.967252,0.032748, maf-5-some-pop 732 chr21 19370035 19370036 rs533891925 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19370047 19370048 rs146591176 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19370061 19370062 rs766245990 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19370080 19370081 rs149162660 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19370094 19370095 rs9976776 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.298651 0.24522 intron exact 1 15 1000GENOMES,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4093.000000,915.000000, 0.817292,0.182708, maf-5-some-pop,maf-5-all-pops 732 chr21 19370115 19370116 rs150978613 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19370122 19370123 rs866965349 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19370141 19370142 rs140896201 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19370198 19370199 rs865790285 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19370199 19370200 rs371677588 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19370214 19370215 rs543806791 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,EVA-GONL,SSIP, 2 -,T, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19370232 19370233 rs146091450 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19370263 19370264 rs187062774 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19370288 19370289 rs868791572 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19370297 19370298 rs535068839 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19370358 19370359 rs866080697 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19370362 19370363 rs572876847 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19370393 19370394 rs377036414 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19370431 19370432 rs370281078 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19370456 19370457 rs553184807 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19370459 19370460 rs540204550 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19370515 19370516 rs770535416 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19370546 19370547 rs147774760 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19370552 19370553 rs373752502 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19370609 19370610 rs191696372 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19370624 19370625 rs376710765 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19370635 19370636 rs774078434 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19370684 19370685 rs543949610 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19370764 19370765 rs141172630 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 732 chr21 19370767 19370768 rs373531319 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19370770 19370771 rs763199684 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19370777 19370778 rs555332452 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19370787 19370788 rs146927991 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19370791 19370792 rs137999663 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WARNICH_LAB,WEILL_CORNELL_DGM, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19370804 19370805 rs778216738 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19370814 19370815 rs775858897 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19370838 19370839 rs374113594 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19370846 19370847 rs866981646 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19370852 19370853 rs531958548 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19370896 19370897 rs559968270 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19370901 19370902 rs8133226 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.368119 0.220336 intron exact 1 17 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3790.000000,1218.000000, 0.756789,0.243211, maf-5-some-pop,maf-5-all-pops 732 chr21 19370913 19370914 rs184909664 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19370937 19370938 rs768835625 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19370983 19370984 rs570743702 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19371032 19371033 rs531862914 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19371052 19371053 rs550005655 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371057 19371058 rs530740592 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19371062 19371063 rs158079 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.45843 0.138046 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1782.000000,3226.000000, 0.355831,0.644169, maf-5-some-pop,maf-5-all-pops 732 chr21 19371075 19371076 rs535626901 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371078 19371079 rs765505508 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371083 19371084 rs375871563 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19371086 19371087 rs564376086 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19371092 19371093 rs750670254 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371101 19371102 rs143352733 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19371103 19371104 rs148341896 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4958.000000,50.000000, 0.990016,0.009984, 732 chr21 19371106 19371107 rs767409840 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371127 19371128 rs752559150 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371166 19371167 rs115454032 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 732 chr21 19371167 19371168 rs113721832 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 3 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19371168 19371169 rs158078 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL, 2 C,T, 4941.000000,67.000000, 0.986621,0.013379, 732 chr21 19371222 19371223 rs576758911 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371223 19371224 rs544334371 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371229 19371230 rs368727695 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19371259 19371260 rs142255651 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19371260 19371261 rs189410961 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19371275 19371276 rs745602802 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371282 19371283 rs560034036 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371308 19371309 rs527616903 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19371355 19371357 rs749588802 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371361 19371362 rs566421644 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371376 19371377 rs371656092 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19371401 19371402 rs772311924 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371412 19371413 rs146380167 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19371484 19371485 rs139756770 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19371500 19371501 rs368967485 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19371518 19371519 rs531564908 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19371566 19371567 rs760680540 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19371597 19371598 rs13049798 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.299411 0.245069 intron exact 1 20 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4090.000000,918.000000, 0.816693,0.183307, maf-5-some-pop,maf-5-all-pops 732 chr21 19371598 19371599 rs142808097 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19371599 19371600 rs192504206 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19371653 19371654 rs537248874 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19371660 19371661 rs13049065 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.303438 0.244222 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4074.000000,934.000000, 0.813498,0.186502, maf-5-some-pop,maf-5-all-pops 732 chr21 19371674 19371675 rs756848311 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19371675 19371676 rs778597454 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19371687 19371688 rs185487434 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19371692 19371693 rs761924623 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371786 19371787 rs769918997 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371800 19371801 rs566254552 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371814 19371815 rs139806867 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19371827 19371828 rs138480099 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 MixedObserved 3 1000GENOMES,LUNTER,SSMP, 2 -,A, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 732 chr21 19371827 19371828 rs190414076 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 MixedObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 732 chr21 19371828 19371829 rs763289096 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371869 19371870 rs9305834 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.49263 0.060254 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 2808.000000,2200.000000, 0.560703,0.439297, maf-5-some-pop,maf-5-all-pops 732 chr21 19371870 19371871 rs537398585 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19371881 19371882 rs556245630 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371894 19371895 rs752453442 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371912 19371913 rs149791545 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19371918 19371919 rs753781980 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371940 19371941 rs145011047 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19371951 19371953 rs745929978 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19371962 19371963 rs553582879 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19371964 19371965 rs373997008 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 4 1000GENOMES,EVA-GONL,SSIP,SSMP, 2 -,A, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19371974 19371975 rs571908608 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372005 19372006 rs545735551 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19372060 19372061 rs564177549 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372065 19372066 rs576403924 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19372068 19372069 rs532020595 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19372079 19372080 rs148654463 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 732 chr21 19372100 19372101 rs562095096 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372113 19372114 rs529435730 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19372145 19372146 rs144402352 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19372151 19372152 rs376611559 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19372188 19372189 rs758110972 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19372206 19372209 rs367830531 0 + GAA GAA -/GAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,SSMP, 2 -,GAA, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19372211 19372212 rs158077 0 - T T A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.32955 0.237006 intron exact 1 22 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 3966.000000,1042.000000, 0.791933,0.208067, maf-5-some-pop 732 chr21 19372215 19372216 rs147860407 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19372224 19372225 rs552055291 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372230 19372231 rs141420017 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 732 chr21 19372244 19372245 rs537864102 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372252 19372253 rs549549049 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19372302 19372303 rs146937915 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372327 19372328 rs10084552 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.034526 0.126772 intron exact 1 6 1000GENOMES,HGSV,JMKIDD_LAB,PJP,TISHKOFF,WI_SSAHASNP, 2 C,T, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 732 chr21 19372366 19372367 rs553443991 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19372367 19372368 rs769154606 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19372387 19372388 rs181429891 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19372389 19372390 rs571910632 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372393 19372394 rs75054033 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19372428 19372429 rs769746155 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19372429 19372430 rs140784819 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 732 chr21 19372432 19372433 rs576291207 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372454 19372455 rs543679483 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19372489 19372490 rs749437052 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19372521 19372522 rs868481057 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19372544 19372545 rs2824595 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.318656 0.240388 intron exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4012.000000,996.000000, 0.801118,0.198882, maf-5-some-pop 732 chr21 19372555 19372556 rs574072942 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19372567 19372568 rs867383803 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19372586 19372587 rs774573898 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19372665 19372666 rs185962706 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19372673 19372674 rs559839734 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19372694 19372695 rs73194575 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.318415 0.240457 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4013.000000,995.000000, 0.801318,0.198682, maf-5-some-pop 732 chr21 19372705 19372706 rs763944632 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19372725 19372726 rs539199933 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19372746 19372747 rs373955916 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19372749 19372750 rs545237476 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19372753 19372754 rs778225061 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19372795 19372796 rs563891957 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19372796 19372797 rs776538189 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19372886 19372887 rs531139592 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19372973 19372974 rs368146647 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19372990 19372991 rs371028612 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19373007 19373008 rs549650429 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19373031 19373032 rs761859948 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373104 19373105 rs111969402 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19373118 19373119 rs764622994 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373190 19373191 rs189054336 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19373222 19373223 rs757867428 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373230 19373231 rs766069308 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373239 19373240 rs549575388 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19373277 19373278 rs528821444 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19373341 19373342 rs1470462 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.29432 0.24604 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4110.000000,898.000000, 0.820687,0.179313, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19373347 19373348 rs1394748 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 ABI,TSC-CSHL, 0 732 chr21 19373379 19373380 rs755386474 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373448 19373449 rs745935918 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19373453 19373454 rs781727100 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373454 19373455 rs748639503 0 + A A A/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373461 19373462 rs2218516 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.02016 0.098354 intron exact 1 5 1000GENOMES,ABI,JMKIDD_LAB,SC_JCM,TSC-CSHL, 2 C,T, 4957.000000,51.000000, 0.989816,0.010184, maf-5-some-pop 732 chr21 19373476 19373477 rs762466721 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19373514 19373515 rs796689934 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19373519 19373520 rs373217213 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19373529 19373529 rs761684078 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373554 19373555 rs778168793 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373571 19373572 rs749335631 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373598 19373599 rs2824596 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.300926 0.244758 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4084.000000,924.000000, 0.815495,0.184505, maf-5-some-pop 732 chr21 19373599 19373600 rs774555323 0 + G G A/C/G genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373605 19373606 rs557694454 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19373613 19373614 rs775666452 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19373653 19373654 rs372260508 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19373672 19373673 rs376836998 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19373676 19373677 rs569828830 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19373735 19373736 rs367627261 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19373776 19373777 rs536985687 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19373779 19373780 rs138893919 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19373784 19373785 rs181148332 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19373788 19373789 rs768419079 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373797 19373798 rs541409919 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19373819 19373820 rs776450831 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373839 19373840 rs761545749 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373850 19373851 rs371782473 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19373856 19373857 rs578169915 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19373865 19373866 rs376748176 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19373878 19373880 rs562287489 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AT, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19373892 19373893 rs375648808 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19373912 19373913 rs563778133 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19373924 19373925 rs540979988 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19373935 19373936 rs542963588 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19373944 19373945 rs773036388 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19373949 19373950 rs186514212 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19373953 19373954 rs528870758 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19373960 19373961 rs534339733 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19373961 19373962 rs764036509 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19373972 19373973 rs369266354 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19373979 19373980 rs776399891 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19374003 19374004 rs372289703 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19374005 19374006 rs530998342 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 G,T, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19374010 19374011 rs375575464 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19374066 19374067 rs369911606 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19374076 19374077 rs761665350 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19374086 19374087 rs532930532 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19374090 19374095 rs59908803 0 + TTTTT TTTTT -/TTTTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.488363 0.075385 intron range 1 MixedObserved 3 1000GENOMES,BILGI_BIOE,PJP, 2 -,TTTTT, 2122.000000,2886.000000, 0.423722,0.576278, maf-5-some-pop,maf-5-all-pops 732 chr21 19374090 19374096 rs766021180 0 + TTTTTT TTTTTT -/TTTTTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374091 19374096 rs776693362 0 + TTTTT TTTTT -/TTTTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374094 19374096 rs752824753 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374108 19374113 rs796954586 0 + TTTTT TTTTT -/TTTTT genomic deletion unknown 0 0 intron range 1 2 HGSV,HUMANGENOME_JCVI, 0 732 chr21 19374112 19374113 rs200613342 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19374147 19374148 rs550798246 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19374162 19374163 rs751240001 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374182 19374183 rs191022537 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374193 19374194 rs182588410 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19374203 19374204 rs460223 0 - G G C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SC_JCM, 1 C, 414.000000, 1.000000, 732 chr21 19374220 19374221 rs537201698 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374231 19374232 rs17002272 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.009934 0.069774 intron exact 1 5 1000GENOMES,AFFY,BUSHMAN,KRIBB_YJKIM,PERLEGEN, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 732 chr21 19374238 19374239 rs460213 0 - G G C/T genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 732 chr21 19374243 19374244 rs567533369 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374288 19374289 rs534902261 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19374321 19374322 rs157756 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.311859 0.242226 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4040.000000,968.000000, 0.806709,0.193291, maf-5-some-pop,maf-5-all-pops 732 chr21 19374327 19374328 rs376502721 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19374358 19374358 rs139690890 0 + - - -/G genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 732 chr21 19374409 19374410 rs368903804 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19374436 19374437 rs866635152 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19374453 19374454 rs577969210 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374468 19374469 rs113326758 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374556 19374557 rs767959580 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374645 19374646 rs557389042 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19374646 19374647 rs187240934 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19374652 19374653 rs753062311 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374657 19374658 rs112138609 0 + C C A/C genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19374667 19374668 rs540100811 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19374692 19374693 rs191117871 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374700 19374701 rs1505265 0 - T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.46754 0.123192 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 3142.000000,1866.000000, 0.627396,0.372604, maf-5-some-pop,maf-5-all-pops 732 chr21 19374741 19374742 rs757349133 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374749 19374750 rs377190062 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19374772 19374778 rs765738900 0 + TTTACT TTTACT -/TTTACT genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19374790 19374791 rs115179409 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,HAMMER_LAB,ILLUMINA, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, maf-5-some-pop 732 chr21 19374811 19374812 rs566818421 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19374849 19374850 rs145786927 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,ILLUMINA, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19374864 19374865 rs183498706 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374867 19374868 rs558962973 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19374868 19374868 rs34309283 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19374955 19374956 rs576586976 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19374960 19374961 rs756673721 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19374982 19374983 rs555895839 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19374995 19374996 rs113137895 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 732 chr21 19375031 19375032 rs9981486 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 C, 420.000000, 1.000000, 732 chr21 19375053 19375054 rs778488829 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19375061 19375062 rs575850412 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19375104 19375105 rs538016336 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19375116 19375117 rs551190290 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19375130 19375131 rs158076 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.032984 0.124112 intron exact 1 12 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4924.000000,84.000000, 0.983227,0.016773, maf-5-some-pop 732 chr21 19375158 19375159 rs530633753 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19375163 19375164 rs111478655 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19375165 19375166 rs35053476 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.470908 0.117046 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1900.000000,3108.000000, 0.379393,0.620607, maf-5-some-pop,maf-5-all-pops 732 chr21 19375172 19375173 rs577776938 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19375175 19375176 rs560877183 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19375211 19375212 rs567447310 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19375246 19375247 rs157755 0 - G G A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.404559 0.196498 intron exact 1 20 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3598.000000,1410.000000, 0.718450,0.281550, maf-5-some-pop 732 chr21 19375251 19375252 rs546909325 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19375258 19375259 rs35029595 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.477853 0.102875 intron exact 1 14 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1977.000000,3031.000000, 0.394768,0.605232, maf-5-some-pop,maf-5-all-pops 732 chr21 19375289 19375290 rs538979255 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19375300 19375301 rs573576506 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19375301 19375302 rs868402170 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19375305 19375306 rs866111488 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19375321 19375322 rs111643228 0 + C C C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 1.000000, 1.000000, 732 chr21 19375354 19375355 rs557188150 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19375360 19375361 rs34688733 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.300421 0.244863 intron exact 1 13 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4086.000000,922.000000, 0.815895,0.184105, maf-5-some-pop,maf-5-all-pops 732 chr21 19375366 19375367 rs536323909 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19375368 19375369 rs554787050 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19375376 19375377 rs573091104 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19375397 19375398 rs562229962 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19375429 19375430 rs540532367 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19375437 19375438 rs78830449 0 + C C A/C genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 A, 2.000000, 1.000000, 732 chr21 19375438 19375438 rs372188101 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 BILGI_BIOE, 0 732 chr21 19375450 19375451 rs867252647 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19375451 19375452 rs74788464 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 ENSEMBL,GMI,WEILL_CORNELL_DGM, 1 C, 2.000000, 1.000000, 732 chr21 19375452 19375453 rs73194579 0 + C C A/C genomic single by-cluster 0.375 0.216506 intron exact 1 4 ENSEMBL,GMI,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,C, 3.000000,1.000000, 0.750000,0.250000, 732 chr21 19375453 19375457 rs148355768 0 + AAAA AAAA -/AAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.315758 0.241197 intron range 1 5 1000GENOMES,BL,DDI,LUNTER,SSMP, 2 -,AAAA, 984.000000,4024.000000, 0.196486,0.803514, maf-5-some-pop 732 chr21 19375456 19375457 rs201715139 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19375462 19375463 rs565526634 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 4966.000000,42.000000, 0.991613,0.008387, 732 chr21 19375465 19375466 rs746034805 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19375505 19375506 rs772347368 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19375667 19375668 rs577587790 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19375703 19375708 rs139590869 0 + TTATT TTATT -/TTATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.359787 0.224604 intron range 1 8 1000GENOMES,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,TTATT, 1178.000000,3830.000000, 0.235224,0.764776, maf-5-some-pop,maf-5-all-pops 732 chr21 19375746 19375751 rs576664062 0 + AATAT AATAT -/AATAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron range 1 2 1000GENOMES,EVA_DECODE, 2 -,AATAT, 42.000000,4966.000000, 0.008387,0.991613, 732 chr21 19375774 19375775 rs187463324 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19375778 19375779 rs141474990 0 + C C C/G genomic single by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 1 1000GENOMES, 2 C,G, 4974.000000,34.000000, 0.993211,0.006789, 732 chr21 19375782 19375783 rs530659216 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 732 chr21 19375811 19375812 rs549097092 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19375844 19375845 rs117524498 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036066 0.129354 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4916.000000,92.000000, 0.981629,0.018371, maf-5-some-pop 732 chr21 19375845 19375846 rs157754 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.065214 0.168387 intron exact 1 11 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 169.000000,4839.000000, 0.033746,0.966254, maf-5-some-pop 732 chr21 19375870 19375871 rs192309810 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19375884 19375885 rs571492839 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19375906 19375907 rs538538428 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19375921 19375922 rs866873217 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19375927 19375928 rs76046681 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 79.000000,4929.000000, 0.015775,0.984225, maf-5-some-pop 732 chr21 19375931 19375932 rs116523550 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 65.000000,4943.000000, 0.012979,0.987021, 732 chr21 19375942 19375943 rs776591363 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19375960 19375961 rs183257817 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19375966 19375967 rs34701874 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.470327 0.118136 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3114.000000,1894.000000, 0.621805,0.378195, maf-5-some-pop,maf-5-all-pops 732 chr21 19376017 19376018 rs573103389 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376030 19376031 rs547227524 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19376073 19376074 rs158075 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.060734 0.163335 intron exact 1 14 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,PJP,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4851.000000,157.000000, 0.968650,0.031350, maf-5-some-pop 732 chr21 19376087 19376088 rs187980667 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19376098 19376099 rs112770680 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19376101 19376102 rs192544115 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376159 19376160 rs2824597 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.470715 0.117409 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3110.000000,1898.000000, 0.621006,0.378994, maf-5-some-pop,maf-5-all-pops 732 chr21 19376219 19376220 rs556965112 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376220 19376221 rs149782 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.483852 0.088393 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2054.000000,2954.000000, 0.410144,0.589856, maf-5-some-pop,maf-5-all-pops 732 chr21 19376239 19376240 rs542755628 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376242 19376243 rs149783 0 - T T A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.495291 0.048293 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 2747.000000,2261.000000, 0.548522,0.451478, maf-5-some-pop,maf-5-all-pops 732 chr21 19376253 19376254 rs538305696 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19376265 19376266 rs528319291 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376317 19376318 rs540452913 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376325 19376326 rs558289149 0 + A A A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19376360 19376361 rs73194584 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.29278 0.246313 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 892.000000,4116.000000, 0.178115,0.821885, maf-5-some-pop 732 chr21 19376373 19376374 rs184419084 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376389 19376390 rs550589978 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376396 19376397 rs569243081 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376436 19376437 rs529987858 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376467 19376468 rs548297452 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376515 19376516 rs757800962 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19376519 19376520 rs533793132 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376529 19376530 rs534013882 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19376549 19376550 rs201542717 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19376584 19376585 rs2824599 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.289942 0.246789 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 881.000000,4127.000000, 0.175919,0.824081, maf-5-some-pop 732 chr21 19376588 19376589 rs150839612 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19376612 19376613 rs556541179 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376630 19376631 rs575317366 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19376648 19376649 rs542618754 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376655 19376656 rs764673152 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19376663 19376667 rs562340163 0 + AATC AATC -/AATC genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AATC, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19376664 19376665 rs554723312 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376673 19376674 rs780253653 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19376706 19376707 rs573000400 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376708 19376712 rs541731203 0 + TCTC TCTC -/TCTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TCTC, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19376714 19376715 rs539945763 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376733 19376734 rs157753 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4924.000000,84.000000, 0.983227,0.016773, maf-5-some-pop 732 chr21 19376772 19376773 rs189228058 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19376810 19376810 rs759371593 0 + - - -/TACG genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 732 chr21 19376818 19376819 rs373079997 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19376819 19376820 rs544496965 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19376910 19376911 rs562413286 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19376930 19376931 rs530050611 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19376976 19376977 rs192413781 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19377032 19377033 rs769617554 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377084 19377085 rs573884875 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377090 19377091 rs566507173 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377093 19377094 rs542195947 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19377113 19377114 rs76238349 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19377141 19377142 rs149784 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.483126 0.09029 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,KWOK,SC_JCM,SSAHASNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2044.000000,2964.000000, 0.408147,0.591853, maf-5-some-pop,maf-5-all-pops 732 chr21 19377149 19377150 rs66656507 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 6 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,SSMP, 1 -, 2.000000, 1.000000, 732 chr21 19377159 19377160 rs571036074 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19377160 19377162 rs386816721 0 + AA AA AA/G genomic in-del by-cluster 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19377160 19377163 rs533161675 0 + AAC AAC -/AAC genomic deletion by-frequency,by-1000genomes 0.006369 0.056072 intron range 1 MixedObserved 1 1000GENOMES, 2 -,AAC, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19377161 19377162 rs2406166 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.317451 0.240729 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,PJP,SSAHASNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4017.000000,991.000000, 0.802117,0.197883, maf-5-some-pop,maf-5-all-pops 732 chr21 19377167 19377168 rs556840219 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377168 19377169 rs759052771 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377221 19377222 rs568738602 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377231 19377232 rs113080320 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377235 19377236 rs771777613 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377277 19377278 rs554649626 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19377301 19377302 rs144443682 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19377304 19377305 rs184828729 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19377319 19377320 rs558320597 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19377355 19377356 rs775199683 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377359 19377360 rs576987671 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377373 19377374 rs544042615 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19377392 19377393 rs1867705 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.317451 0.240729 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4017.000000,991.000000, 0.802117,0.197883, maf-5-some-pop,maf-5-all-pops 732 chr21 19377396 19377397 rs764489625 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377400 19377401 rs574420591 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19377401 19377402 rs188905185 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19377413 19377414 rs1867704 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.317692 0.240661 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 992.000000,4016.000000, 0.198083,0.801917, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19377457 19377458 rs527647824 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377458 19377459 rs540512799 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19377493 19377494 rs765673756 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377506 19377507 rs8127924 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.29278 0.246313 intron exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 892.000000,4116.000000, 0.178115,0.821885, maf-5-some-pop 732 chr21 19377523 19377524 rs372402574 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19377530 19377531 rs758467799 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377537 19377538 rs574578837 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19377552 19377553 rs181712998 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19377588 19377589 rs531951782 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19377593 19377594 rs113809145 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19377608 19377609 rs550434342 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19377611 19377612 rs568664639 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377617 19377618 rs34831514 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 13 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM, 2 A,G, 4949.000000,59.000000, 0.988219,0.011781, 732 chr21 19377641 19377642 rs548066991 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19377716 19377717 rs543592924 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19377749 19377750 rs566476609 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19377755 19377756 rs533525257 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19377759 19377760 rs755191499 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19377771 19377772 rs558633511 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19377908 19377909 rs569232044 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19377920 19377921 rs4355196 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SC_JCM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 732 chr21 19377931 19377932 rs186311906 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19377938 19377939 rs1394745 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.29278 0.246313 intron exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 4116.000000,892.000000, 0.821885,0.178115, maf-5-some-pop 732 chr21 19378011 19378012 rs147820539 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378014 19378015 rs748039502 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19378040 19378041 rs139785063 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 732 chr21 19378089 19378090 rs149950425 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378096 19378097 rs572427787 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378122 19378123 rs545845702 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378127 19378128 rs157752 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.068189 0.171594 intron exact 1 14 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4831.000000,177.000000, 0.964657,0.035343, maf-5-some-pop 732 chr21 19378142 19378143 rs772869174 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19378160 19378161 rs531755760 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19378166 19378167 rs157751 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.068189 0.171594 intron exact 1 13 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4831.000000,177.000000, 0.964657,0.035343, maf-5-some-pop 732 chr21 19378181 19378182 rs562274637 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378183 19378184 rs374395071 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378209 19378210 rs548129459 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378211 19378212 rs566206941 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378244 19378245 rs540108803 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19378248 19378249 rs774903882 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378257 19378258 rs189610900 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378264 19378265 rs551913752 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378264 19378264 rs553713910 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378277 19378278 rs144894909 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19378302 19378303 rs180762710 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19378325 19378326 rs157750 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.48995 0.070171 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2149.000000,2859.000000, 0.429113,0.570887, maf-5-some-pop,maf-5-all-pops 732 chr21 19378372 19378373 rs185866247 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19378388 19378389 rs7509857 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.467234 0.12373 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3145.000000,1863.000000, 0.627995,0.372005, maf-5-some-pop,maf-5-all-pops 732 chr21 19378389 19378390 rs553667598 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378394 19378395 rs759282456 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19378407 19378408 rs149022477 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19378416 19378417 rs546059262 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19378423 19378424 rs763499518 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378434 19378435 rs575588780 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19378438 19378439 rs762355851 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19378441 19378442 rs796204756 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19378451 19378452 rs576343013 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378496 19378497 rs751550084 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378497 19378498 rs189980010 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19378570 19378571 rs75719440 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19378603 19378604 rs529525344 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19378617 19378618 rs375050858 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19378628 19378629 rs541678540 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378634 19378635 rs753038725 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378643 19378644 rs559875462 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19378647 19378648 rs115354157 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19378650 19378651 rs552042772 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19378667 19378668 rs558612963 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19378670 19378671 rs78009297 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378673 19378674 rs113398493 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 -, 2.000000, 1.000000, 732 chr21 19378702 19378703 rs778905462 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378723 19378724 rs549489288 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19378729 19378730 rs114382960 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036451 0.129988 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 93.000000,4915.000000, 0.018570,0.981430, maf-5-some-pop 732 chr21 19378733 19378734 rs758839817 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19378744 19378745 rs151181561 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19378747 19378748 rs553715754 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378753 19378754 rs572082671 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19378758 19378759 rs140276308 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19378764 19378765 rs539358148 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378772 19378773 rs557983260 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19378798 19378799 rs576378934 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378814 19378815 rs111414201 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 732 chr21 19378818 19378819 rs111427973 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19378860 19378861 rs183334493 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19378874 19378875 rs746447836 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378887 19378888 rs186581387 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19378890 19378891 rs528388952 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19378910 19378911 rs768215402 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378918 19378919 rs776259573 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19378943 19378944 rs751733786 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19378967 19378968 rs190448717 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19378995 19378996 rs541534649 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19379003 19379004 rs183458621 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19379045 19379046 rs13049303 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.468349 0.121752 intron exact 1 22 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1874.000000,3134.000000, 0.374201,0.625799, maf-5-some-pop,maf-5-all-pops 732 chr21 19379058 19379059 rs545385723 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379059 19379060 rs188115843 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19379132 19379133 rs773603742 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19379135 19379136 rs372494045 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379188 19379189 rs192753701 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379224 19379225 rs567700834 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379255 19379256 rs528992351 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19379274 19379275 rs766744753 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19379280 19379281 rs547426360 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379313 19379314 rs565748930 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19379319 19379320 rs774932206 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19379334 19379335 rs157749 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.494976 0.049867 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2755.000000,2253.000000, 0.550120,0.449880, maf-5-some-pop,maf-5-all-pops 732 chr21 19379337 19379338 rs551410761 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379392 19379393 rs2824600 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.317692 0.240661 intron exact 1 28 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 992.000000,4016.000000, 0.198083,0.801917, maf-5-some-pop,maf-5-all-pops 732 chr21 19379406 19379411 rs151070308 0 + AGGAG AGGAG -/AGGAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron range 1 2 1000GENOMES,LUNTER, 2 -,AGGAG, 34.000000,4974.000000, 0.006789,0.993211, 732 chr21 19379409 19379414 rs371219068 0 + AGAGG AGAGG -/AGAGG genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 732 chr21 19379420 19379421 rs138386374 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19379426 19379427 rs141447159 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19379442 19379443 rs574079488 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 20.000000,4988.000000, 0.003994,0.996006, 732 chr21 19379443 19379444 rs4818399 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.300673 0.244811 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 4085.000000,923.000000, 0.815695,0.184305, maf-5-some-pop,maf-5-all-pops 732 chr21 19379443 19379443 rs769614539 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 732 chr21 19379467 19379468 rs13046743 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.317933 0.240593 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4015.000000,993.000000, 0.801717,0.198283, maf-5-some-pop,maf-5-all-pops 732 chr21 19379492 19379493 rs143093166 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19379541 19379542 rs157748 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.032984 0.124112 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 732 chr21 19379629 19379630 rs551517294 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 732 chr21 19379652 19379653 rs545554607 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379685 19379686 rs867453261 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19379698 19379699 rs758227680 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19379708 19379709 rs571691365 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19379718 19379719 rs563706727 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19379725 19379726 rs575564464 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19379746 19379748 rs548067871 0 + CT CT -/CT genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 1 1000GENOMES, 2 -,CT, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19379747 19379748 rs542901300 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19379764 19379765 rs28612197 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19379828 19379829 rs561390208 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19379865 19379866 rs751579020 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19379941 19379944 rs541565466 0 + CTC CTC -/CTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 2 1000GENOMES,SSIP, 2 -,CTC, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19380007 19380008 rs528821525 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380033 19380034 rs754432089 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380063 19380064 rs547192760 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380106 19380107 rs559373232 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19380181 19380182 rs527758046 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380210 19380211 rs532866271 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380264 19380265 rs555672498 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19380282 19380283 rs547886508 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19380358 19380359 rs183393536 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19380363 19380364 rs186611475 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380393 19380394 rs866371029 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19380417 19380418 rs747767322 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380444 19380445 rs138725278 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 732 chr21 19380461 19380462 rs549252299 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19380462 19380462 rs200595635 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron between 1 1 1000GENOMES, 2 -,T, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19380469 19380470 rs567672117 0 + T T A/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 11.000000,4997.000000, 0.002196,0.997804, 732 chr21 19380470 19380471 rs191450551 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 5 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4913.000000,95.000000, 0.981030,0.018970, maf-5-some-pop 732 chr21 19380519 19380520 rs866499541 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19380521 19380522 rs567082331 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19380545 19380546 rs774316035 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19380549 19380550 rs578068716 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19380558 19380559 rs771329323 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380559 19380560 rs373699943 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380571 19380572 rs557170836 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380575 19380576 rs149363810 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19380598 19380599 rs542925877 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19380599 19380600 rs561215324 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380625 19380631 rs201153860 0 + TGTTTG TGTTTG -/TGTTTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron range 1 MixedObserved 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 -,TGTTTG, 65.000000,4943.000000, 0.012979,0.987021, maf-5-some-pop 732 chr21 19380625 19380633 rs779228991 0 + TGTTTGTG TGTTTGTG -/TGTTTGTG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380627 19380633 rs764031381 0 + TTTGTG TTTGTG -/TTTGTG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380629 19380631 rs66502064 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.452103 0.147154 intron range 1 MixedObserved 10 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,TG, 3279.000000,1729.000000, 0.654752,0.345248, maf-5-some-pop,maf-5-all-pops 732 chr21 19380629 19380633 rs772210270 0 + TGTG TGTG -/TGTG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380631 19380633 rs757330808 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380640 19380642 rs34024669 0 + GT GT -/GT genomic deletion unknown 0 0 intron range 1 2 ABI,PJP, 0 732 chr21 19380646 19380647 rs775131152 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19380650 19380652 rs398036181 0 + GT GT -/GT genomic deletion by-cluster 0 0 intron range 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19380651 19380652 rs760331997 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19380652 19380653 rs573579987 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19380678 19380679 rs184699748 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19380691 19380692 rs144668199 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 732 chr21 19380727 19380728 rs775675563 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380734 19380735 rs569658578 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19380735 19380736 rs866548584 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19380747 19380748 rs572351271 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19380748 19380749 rs868723934 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19380757 19380758 rs541304711 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19380760 19380761 rs114756760 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19380761 19380763 rs775368608 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19380804 19380805 rs563477420 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19380889 19380890 rs796251976 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 732 chr21 19380893 19380894 rs116609537 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,G, 4947.000000,61.000000, 0.987819,0.012180, 732 chr21 19380965 19380966 rs563077992 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19380988 19380989 rs549313620 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19381014 19381015 rs567537682 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19381124 19381125 rs528352379 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19381126 19381127 rs558298273 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19381131 19381132 rs2824601 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.290977 0.246619 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4123.000000,885.000000, 0.823283,0.176717, maf-5-some-pop 732 chr21 19381160 19381161 rs187773442 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19381219 19381220 rs534377439 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19381255 19381256 rs543435994 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19381271 19381272 rs539167743 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19381338 19381339 rs193030118 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19381364 19381365 rs762649296 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19381367 19381368 rs111820748 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 732 chr21 19381372 19381373 rs536421948 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19381393 19381394 rs374688583 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19381416 19381417 rs531847133 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19381429 19381430 rs2824602 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.359575 0.224707 intron exact 1 18 1000GENOMES,ABI,BGI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,G, 3831.000000,1177.000000, 0.764976,0.235024, maf-5-some-pop 732 chr21 19381431 19381432 rs157747 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.063724 0.166737 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4843.000000,165.000000, 0.967053,0.032947, maf-5-some-pop 732 chr21 19381434 19381435 rs543284003 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19381449 19381450 rs755632031 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19381455 19381456 rs767793085 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19381468 19381468 rs541319610 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19381477 19381478 rs143896654 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19381490 19381491 rs545134631 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19381568 19381569 rs368068739 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19381596 19381597 rs563337639 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19381651 19381652 rs139617965 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19381656 19381657 rs185234608 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 732 chr21 19381678 19381679 rs149785 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.481856 0.093503 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2027.000000,2981.000000, 0.404752,0.595248, maf-5-some-pop,maf-5-all-pops 732 chr21 19381714 19381715 rs749030461 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19381727 19381728 rs561047048 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19381735 19381736 rs528425321 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19381743 19381744 rs190347322 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19381791 19381792 rs756265213 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19381832 19381833 rs571615791 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19381835 19381836 rs532372309 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19381852 19381853 rs113877574 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 10 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 732 chr21 19381916 19381917 rs150599607 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 732 chr21 19381929 19381930 rs158074 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.430583 0.172886 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 C,T, 3437.000000,1571.000000, 0.686302,0.313698, maf-5-some-pop 732 chr21 19381959 19381960 rs554784885 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19381975 19381976 rs746253841 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19381993 19381994 rs158073 0 - A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 732 chr21 19382005 19382006 rs139619811 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4959.000000,49.000000, 0.990216,0.009784, 732 chr21 19382008 19382009 rs149673768 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4959.000000,49.000000, 0.990216,0.009784, 732 chr21 19382061 19382062 rs158072 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.061482 0.164198 intron exact 1 7 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4849.000000,159.000000, 0.968251,0.031749, maf-5-some-pop 732 chr21 19382065 19382066 rs567294587 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19382080 19382081 rs745719571 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19382095 19382096 rs35792974 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19382097 19382098 rs36113312 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,ABI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19382104 19382105 rs181222832 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19382108 19382109 rs575443850 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19382122 19382123 rs35829340 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19382128 19382129 rs385825 0 - T T A/G genomic single by-cluster,by-frequency,by-1000genomes 0.485799 0.08306 intron exact 1 14 1000GENOMES,ABI,BCM_SSAHASNP,DDI,ENSEMBL,EVA-GONL,HAMMER_LAB,HUMANGENOME_JCVI,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 A,G, 2926.000000,2082.000000, 0.584265,0.415735, maf-5-some-pop,maf-5-all-pops 732 chr21 19382133 19382134 rs3763146 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.485664 0.083442 intron exact 1 MixedObserved 6 1000GENOMES,DDI,EVA-GONL,HUMANGENOME_JCVI,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 2080.000000,2928.000000, 0.415335,0.584665, maf-5-some-pop,maf-5-all-pops 732 chr21 19382133 19382136 rs796301470 0 + AGC AGC AGC/GGT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 732 chr21 19382135 19382136 rs391970 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.48498 0.08535 intron exact 1 12 1000GENOMES,BCM_SSAHASNP,DDI,ENSEMBL,EVA-GONL,HUMANGENOME_JCVI,SC_JCM,SSAHASNP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 2070.000000,2938.000000, 0.413339,0.586661, maf-5-some-pop,maf-5-all-pops 732 chr21 19382152 19382153 rs375500390 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19382158 19382159 rs158071 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.47885 0.100637 intron exact 1 15 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,HAMMER_LAB,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 C,G, 1989.000000,3019.000000, 0.397165,0.602835, maf-5-some-pop,maf-5-all-pops 732 chr21 19382198 19382199 rs867357812 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19382199 19382200 rs184316699 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 732 chr21 19382204 19382205 rs74815309 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 732 chr21 19382204 19382204 rs766937023 0 + - - -/AAAAAAAAA/AAAAAAAAAAA genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 DDI,EVA_GENOME_DK, 0 732 chr21 19382217 19382218 rs866639206 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 732 chr21 19382217 19382217 rs71189575 0 + - - -/AAAAAAAAA genomic insertion unknown 0 0 intron between 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 AAAAAAAAA, 2.000000, 1.000000, 732 chr21 19382246 19382247 rs532255420 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19382299 19382300 rs188264941 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, maf-5-some-pop 732 chr21 19382303 19382304 rs551971341 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19382330 19382331 rs562534008 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19382337 19382338 rs116305541 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 732 chr21 19382433 19382434 rs9978502 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 732 chr21 19382443 19382444 rs866473837 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19382444 19382445 rs866575757 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19382462 19382465 rs547675850 0 + AAA AAA -/AAA genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 732 chr21 19382476 19382477 rs868742971 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19382479 19382480 rs373111737 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19382496 19382497 rs180882244 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4930.000000,78.000000, 0.984425,0.015575, 732 chr21 19382517 19382518 rs567064225 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19382530 19382531 rs143334877 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 732 chr21 19382559 19382560 rs456410 0 - G G C/G genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 732 chr21 19382568 19382569 rs552452763 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19382600 19382601 rs375236855 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 732 chr21 19382608 19382609 rs367562586 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19382611 19382612 rs465361 0 - C C A/G genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 732 chr21 19382626 19382626 rs71189576 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 AA, 2.000000, 1.000000, 732 chr21 19382637 19382637 rs752372072 0 + - - -/AAG genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 732 chr21 19382639 19382640 rs79419830 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 MixedObserved 3 BL,ENSEMBL,GMI, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19382639 19382643 rs377694229 0 + GAAG GAAG -/GAAG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 LUNTER, 0 732 chr21 19382642 19382643 rs146937325 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 BL,ILLUMINA, 0 732 chr21 19382659 19382660 rs371589743 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19382684 19382685 rs148384754 0 + C C C/T genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 1 1000GENOMES, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 732 chr21 19382729 19382730 rs571085311 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19382744 19382745 rs565490823 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19382754 19382755 rs534658221 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19382781 19382782 rs7280233 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.032598 0.123435 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 732 chr21 19382786 19382787 rs140596836 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19382787 19382788 rs776155788 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19382821 19382822 rs372707840 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19382836 19382837 rs769693591 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19382875 19382876 rs200591245 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19382891 19382892 rs158070 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.061108 0.163768 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 732 chr21 19382925 19382926 rs554324696 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19382926 19382927 rs186299934 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19382953 19382954 rs540085496 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19382994 19382994 rs543403735 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19383043 19383044 rs2824603 0 + A A A/G genomic single by-frequency,by-submitter 0.32 0.24 intron exact 1 1 PERLEGEN, 2 A,G, 8.000000,2.000000, 0.800000,0.200000, maf-5-some-pop,maf-5-all-pops 732 chr21 19383044 19383045 rs158069 0 - C C G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.493523 0.056539 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2789.000000,2219.000000, 0.556909,0.443091, maf-5-some-pop,maf-5-all-pops 732 chr21 19383066 19383067 rs374012914 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19383100 19383101 rs77131605 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19383124 19383125 rs377639989 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19383166 19383167 rs562548406 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19383189 19383190 rs776702213 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383193 19383195 rs112582048 0 + AT AT -/AT genomic deletion unknown 0.5 0 intron range 1 1 BUSHMAN, 2 -,AT, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19383295 19383296 rs529996075 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19383356 19383357 rs565390320 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19383380 19383381 rs762143518 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383413 19383414 rs766055622 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383420 19383420 rs5842669 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.078884 0.182262 intron between 1 9 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,A, 4802.000000,206.000000, 0.958866,0.041134, maf-5-some-pop 732 chr21 19383421 19383421 rs869031563 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 732 chr21 19383445 19383446 rs536818784 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383453 19383454 rs763453254 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19383460 19383461 rs548678273 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19383544 19383545 rs766887180 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19383546 19383547 rs371110753 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19383581 19383582 rs577922396 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19383582 19383583 rs527984191 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19383600 19383601 rs191087990 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19383606 19383607 rs5842670 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.494272 0.053207 intron exact 1 DuplicateObserved 13 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,T, 2236.000000,2772.000000, 0.446486,0.553514, maf-5-some-pop,maf-5-all-pops 732 chr21 19383606 19383607 rs869274550 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 732 chr21 19383612 19383613 rs397762840 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19383623 19383624 rs759267417 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383675 19383676 rs181705423 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19383677 19383678 rs767381821 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383680 19383681 rs752631733 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383694 19383695 rs186672560 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19383719 19383720 rs538583638 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19383720 19383721 rs550448550 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19383741 19383742 rs76016319 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 732 chr21 19383743 19383744 rs774064394 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383779 19383780 rs111443363 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 MixedObserved 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 79.000000,4929.000000, 0.015775,0.984225, 732 chr21 19383779 19383780 rs767121314 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19383851 19383852 rs866987961 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19383889 19383890 rs138268211 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19383925 19383926 rs377556893 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19384053 19384054 rs867588758 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19384097 19384098 rs767704771 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19384129 19384130 rs370103151 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19384134 19384135 rs192033728 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384137 19384138 rs533879282 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19384142 19384143 rs558520354 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19384178 19384179 rs537415459 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19384179 19384180 rs75345895 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 732 chr21 19384239 19384240 rs756897779 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19384257 19384258 rs374425273 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19384272 19384273 rs778456873 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19384318 19384319 rs544109829 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384322 19384323 rs182969333 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19384324 19384325 rs574513371 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19384356 19384357 rs746185490 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19384365 19384366 rs756318649 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19384397 19384398 rs547375034 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19384424 19384425 rs367919324 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 732 chr21 19384462 19384463 rs560521917 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384463 19384464 rs565575900 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19384492 19384493 rs527822457 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384554 19384555 rs572346166 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19384579 19384580 rs541458347 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19384599 19384600 rs143916184 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19384621 19384622 rs187185754 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,GMI,WARNICH_LAB, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19384629 19384630 rs866957924 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19384640 19384641 rs147261392 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19384714 19384715 rs550508891 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384738 19384739 rs139131632 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19384750 19384751 rs149522565 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384806 19384807 rs189533801 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384809 19384810 rs566461594 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384815 19384816 rs533655069 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384820 19384821 rs530163688 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19384823 19384824 rs558583133 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19384824 19384825 rs549886562 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19384826 19384827 rs570327759 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19384832 19384833 rs28719621 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 732 chr21 19384863 19384864 rs537623359 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19384877 19384878 rs370414834 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19384900 19384901 rs2824604 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.427423 0.176128 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3458.000000,1550.000000, 0.690495,0.309505, maf-5-some-pop,maf-5-all-pops 732 chr21 19384934 19384935 rs574426687 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19384935 19384936 rs567368043 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19384949 19384950 rs117498711 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19384965 19384966 rs777918367 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19384968 19384969 rs553923613 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19384996 19384997 rs73892827 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 4 1000GENOMES,ILLUMINA,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4966.000000,42.000000, 0.991613,0.008387, 732 chr21 19385017 19385018 rs77649678 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 4 1000GENOMES,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4963.000000,45.000000, 0.991014,0.008986, 732 chr21 19385040 19385041 rs77090629 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19385061 19385062 rs773316646 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19385074 19385075 rs531962483 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19385091 19385092 rs116060569 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19385123 19385124 rs562260433 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19385183 19385184 rs529608425 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19385204 19385218 rs547666684 0 + GCTGGAGTGGTATT GCTGGAGTGGTATT -/GCTGGAGTGGTATT genomic deletion by-frequency,by-1000genomes 0.007559 0.061011 intron range 1 1 1000GENOMES, 2 -,GCTGGAGTGGTATT, 19.000000,4989.000000, 0.003794,0.996206, 732 chr21 19385223 19385224 rs757202765 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19385224 19385225 rs182236795 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19385248 19385249 rs566354276 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19385249 19385250 rs536324311 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19385251 19385252 rs35465369 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.426966 0.176587 intron exact 1 13 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 1547.000000,3461.000000, 0.308906,0.691094, maf-5-some-pop,maf-5-all-pops 732 chr21 19385257 19385258 rs397761262 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19385372 19385373 rs527246217 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19385381 19385382 rs368275537 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19385439 19385440 rs158068 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.064469 0.167566 intron exact 1 12 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4841.000000,167.000000, 0.966653,0.033347, maf-5-some-pop 732 chr21 19385459 19385460 rs570239891 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19385484 19385485 rs573045358 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19385506 19385507 rs767363816 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19385538 19385539 rs866187912 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19385565 19385566 rs369743270 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19385610 19385611 rs375178347 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19385612 19385613 rs11354463 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 SingleAlleleFreq 14 1000GENOMES,ABI,BILGI_BIOE,BL,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 1 -, 2.000000, 1.000000, 732 chr21 19385655 19385656 rs11336899 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 15 1000GENOMES,ABI,BILGI_BIOE,BL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19385655 19385656 rs75277177 0 + G G C/G/T genomic single by-cluster 0 0 intron exact 1 MixedObserved,SingleClassTriAllelic,SingleAlleleFreq 3 BCM-HGSC-SUB,BUSHMAN,GMI, 1 C, 1.000000, 1.000000, 732 chr21 19385655 19385656 rs869221982 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 DEVINE_LAB, 0 732 chr21 19385655 19385655 rs752738574 0 + - - -/G genomic insertion unknown 0 0 intron between 1 MixedObserved 1 DDI, 0 732 chr21 19385663 19385664 rs537531612 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 42.000000,4966.000000, 0.008387,0.991613, 732 chr21 19385702 19385703 rs158067 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.082176 0.185298 intron exact 1 11 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,HAMMER_LAB,KWOK,PERLEGEN,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 215.000000,4793.000000, 0.042931,0.957069, maf-5-some-pop 732 chr21 19385719 19385719 rs11434252 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 16 1000GENOMES,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 0.000000,5008.000000, 0.000000,1.000000, 732 chr21 19385722 19385723 rs199629603 0 - G G A/C genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 GMI,ILLUMINA, 0 732 chr21 19385722 19385722 rs397867683 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 732 chr21 19385743 19385744 rs7277450 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 732 chr21 19385763 19385764 rs112781665 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 2 BUSHMAN,GMI, 1 T, 1.000000, 1.000000, 732 chr21 19385763 19385764 rs201794834 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19385764 19385765 rs11354464 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 17 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19385764 19385765 rs370065040 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 732 chr21 19385774 19385775 rs568242097 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19385775 19385776 rs148699559 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19385778 19385779 rs187616203 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19385815 19385816 rs372022340 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19385828 19385829 rs17002275 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.067817 0.1712 intron exact 1 5 1000GENOMES,HAMMER_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4832.000000,176.000000, 0.964856,0.035144, maf-5-some-pop 732 chr21 19385831 19385832 rs545226661 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19385839 19385840 rs775386025 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19385851 19385852 rs546148912 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19385870 19385871 rs760649407 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19385931 19385932 rs113417599 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19385949 19385950 rs7282160 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 732 chr21 19385969 19385970 rs368335766 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 732 chr21 19385969 19385969 rs71189577 0 + - - -/TTTTTTTTTTTTTTTT genomic insertion unknown 0 0 intron between 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 TTTTTTTTTTTTTTTT, 2.000000, 1.000000, 732 chr21 19385970 19385971 rs372358493 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19385971 19385972 rs375367810 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 732 chr21 19386015 19386016 rs565134900 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19386019 19386020 rs193056686 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19386039 19386040 rs141310842 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,EVA-GONL,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19386040 19386041 rs768199804 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19386045 19386046 rs373787796 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19386053 19386054 rs562272575 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19386058 19386059 rs776150763 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19386071 19386072 rs574137309 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19386095 19386096 rs158066 0 - C C A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.06856 0.171987 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 178.000000,4830.000000, 0.035543,0.964457, maf-5-some-pop 732 chr21 19386096 19386097 rs559969366 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19386107 19386108 rs539268427 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19386123 19386124 rs550040196 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSIP, 0 732 chr21 19386146 19386147 rs533438240 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386147 19386148 rs558979922 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19386170 19386171 rs551790310 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19386171 19386172 rs572735573 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 732 chr21 19386181 19386182 rs563729907 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19386186 19386187 rs139043366 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19386216 19386217 rs570148398 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 5 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 732 chr21 19386227 19386228 rs568168730 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19386231 19386232 rs144045914 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.083635 0.186609 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 219.000000,4789.000000, 0.043730,0.956270, maf-5-some-pop 732 chr21 19386240 19386241 rs574499037 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386241 19386242 rs547394738 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386242 19386243 rs543462851 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19386243 19386244 rs539738119 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19386272 19386273 rs558233668 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386291 19386292 rs781572429 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386300 19386301 rs76208635 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4957.000000,51.000000, 0.989816,0.010184, 732 chr21 19386314 19386315 rs775718041 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19386346 19386347 rs9978869 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 732 chr21 19386355 19386356 rs158065 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.064469 0.167566 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 167.000000,4841.000000, 0.033347,0.966653, maf-5-some-pop 732 chr21 19386404 19386405 rs75274861 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4808.000000,200.000000, 0.960064,0.039936, maf-5-some-pop 732 chr21 19386438 19386439 rs574175453 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386477 19386478 rs546012334 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19386493 19386494 rs541640064 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19386497 19386498 rs559675270 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386535 19386536 rs35438614 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19386540 19386541 rs35645630 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19386556 19386557 rs773476644 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386595 19386596 rs749567186 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386596 19386597 rs578225017 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386607 19386608 rs150628948 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 BL, 0 732 chr21 19386611 19386612 rs545293634 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386619 19386620 rs563742183 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19386666 19386667 rs531166473 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19386669 19386670 rs158064 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.083271 0.186283 intron exact 1 13 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 218.000000,4790.000000, 0.043530,0.956470, maf-5-some-pop 732 chr21 19386696 19386697 rs775229728 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386703 19386704 rs561792067 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19386714 19386715 rs760489933 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386775 19386776 rs528958052 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386777 19386778 rs547613424 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19386779 19386780 rs764039097 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386788 19386789 rs565734890 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19386808 19386809 rs761383682 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386824 19386825 rs764712787 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386835 19386836 rs539749970 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19386862 19386863 rs528357818 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19386880 19386881 rs551663023 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19386893 19386894 rs375756883 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19386914 19386915 rs570082144 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19386968 19386969 rs571551824 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19386976 19386977 rs537414940 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19386980 19386981 rs158063 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.064469 0.167566 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4841.000000,167.000000, 0.966653,0.033347, maf-5-some-pop 732 chr21 19386999 19387000 rs548518510 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19387004 19387005 rs9680294 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 732 chr21 19387026 19387027 rs751922881 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387053 19387054 rs568020341 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19387065 19387065 rs35933570 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19387075 19387076 rs866982635 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19387087 19387088 rs7283027 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19387088 19387089 rs188339911 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19387119 19387120 rs368894360 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19387136 19387137 rs753208715 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387145 19387146 rs550693242 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387159 19387160 rs146465317 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4956.000000,52.000000, 0.989617,0.010383, 732 chr21 19387164 19387165 rs158062 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.064469 0.167566 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4841.000000,167.000000, 0.966653,0.033347, maf-5-some-pop 732 chr21 19387190 19387191 rs771095714 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387191 19387192 rs139505671 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WARNICH_LAB, 2 A,C, 4961.000000,47.000000, 0.990615,0.009385, 732 chr21 19387217 19387218 rs746739742 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387218 19387219 rs575650384 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19387226 19387227 rs149834831 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 732 chr21 19387227 19387228 rs566165976 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19387286 19387287 rs145796581 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387291 19387292 rs776618912 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19387309 19387310 rs761707536 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387330 19387331 rs545558494 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19387349 19387350 rs540723490 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387370 19387371 rs538428118 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19387382 19387383 rs769313291 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387385 19387386 rs533128753 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387402 19387403 rs149013233 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 732 chr21 19387413 19387414 rs569994745 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387461 19387462 rs193200468 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387465 19387466 rs549397246 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387494 19387494 rs780227213 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387514 19387515 rs772806144 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387528 19387529 rs762570691 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387552 19387553 rs766067262 0 + G G C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387563 19387567 rs777852731 0 + AGTG AGTG -/AGTG genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 732 chr21 19387595 19387596 rs113963812 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,TISHKOFF, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19387596 19387597 rs111984785 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19387624 19387626 rs538168027 0 + TC TC -/TC genomic deletion by-frequency,by-1000genomes 0.00319 0.039809 intron range 1 1 1000GENOMES, 2 -,TC, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19387645 19387646 rs534953680 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387661 19387662 rs780745882 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19387685 19387686 rs535122153 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19387723 19387724 rs553150499 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19387763 19387764 rs767828468 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387806 19387807 rs117716498 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387815 19387816 rs375874786 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19387818 19387819 rs183974839 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387823 19387824 rs753223755 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387831 19387832 rs372102555 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19387865 19387866 rs147670215 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007959 0.062629 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,C,G, 4988.000000,17.000000,3.000000, 0.996006,0.003395,0.000599, 732 chr21 19387905 19387906 rs756539839 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19387907 19387908 rs158061 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.064469 0.167566 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4841.000000,167.000000, 0.966653,0.033347, maf-5-some-pop 732 chr21 19387909 19387910 rs555346744 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19387965 19387966 rs573519371 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19387976 19387977 rs554844131 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19387980 19387981 rs554238628 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19388047 19388048 rs541139592 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19388059 19388060 rs753857872 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388103 19388104 rs188702599 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19388127 19388128 rs757334141 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388155 19388156 rs533037827 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19388238 19388239 rs779106558 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388244 19388245 rs545259360 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388271 19388272 rs746150833 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388304 19388305 rs369650478 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19388374 19388375 rs199808400 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19388383 19388384 rs768479043 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388391 19388392 rs530873123 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19388397 19388398 rs548957764 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19388408 19388409 rs567660998 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19388412 19388413 rs4818400 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.427423 0.176128 intron exact 1 26 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1550.000000,3458.000000, 0.309505,0.690495, maf-5-some-pop,maf-5-all-pops,genotype-conflict 732 chr21 19388421 19388422 rs547090835 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388442 19388443 rs571432868 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388474 19388475 rs538729512 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19388481 19388482 rs550800374 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19388514 19388515 rs748004282 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388521 19388522 rs769565698 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388527 19388528 rs1605044 0 - G G C/T genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 732 chr21 19388530 19388531 rs180723599 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388531 19388532 rs536964171 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388541 19388542 rs554933229 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388548 19388549 rs573606508 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19388566 19388567 rs142371467 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388570 19388571 rs534350279 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388581 19388582 rs552989294 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19388594 19388595 rs769244961 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19388618 19388619 rs146356135 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19388651 19388652 rs545122625 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19388653 19388654 rs183867000 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388654 19388655 rs575305990 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19388666 19388667 rs542923921 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19388674 19388675 rs560994619 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19388693 19388694 rs528363492 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388696 19388697 rs543448653 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19388752 19388753 rs558720667 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19388763 19388764 rs546710213 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388771 19388772 rs557157434 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19388824 19388825 rs564926056 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388825 19388826 rs158060 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.081811 0.184966 intron exact 1 14 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 732 chr21 19388829 19388830 rs139169624 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19388846 19388847 rs189578348 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,T, 4994.000000,14.000000, 0.997204,0.002796, 732 chr21 19388876 19388876 rs148396013 0 + - - -/AG genomic insertion by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron between 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,AG, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 732 chr21 19388881 19388882 rs536420087 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388903 19388904 rs369884083 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19388960 19388961 rs548742016 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388972 19388973 rs567085915 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19388988 19388989 rs534499127 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389020 19389021 rs13047627 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.427119 0.176434 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3460.000000,1548.000000, 0.690895,0.309105, maf-5-some-pop,maf-5-all-pops 732 chr21 19389047 19389048 rs764572416 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 732 chr21 19389068 19389069 rs577664383 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19389099 19389100 rs182041831 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389115 19389116 rs557058941 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389117 19389118 rs764519333 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389125 19389126 rs114555717 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 732 chr21 19389149 19389150 rs187654374 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19389205 19389206 rs754413100 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389223 19389224 rs757319879 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389224 19389225 rs542482683 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19389238 19389239 rs765354140 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389248 19389249 rs750629966 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389249 19389250 rs561119151 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19389257 19389258 rs375645337 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19389260 19389261 rs540131490 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19389288 19389289 rs117177518 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19389310 19389311 rs758507365 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389312 19389313 rs154750 0 - G G C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.049433 0.149241 intron exact 1 11 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4881.000000,127.000000, 0.974641,0.025359, maf-5-some-pop 732 chr21 19389328 19389329 rs141459880 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 C,T, 23.000000,4985.000000, 0.004593,0.995407, 732 chr21 19389338 19389339 rs150144445 0 + G G G/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 732 chr21 19389375 19389380 rs777707478 0 + GGAAG GGAAG -/GGAAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389383 19389384 rs530194225 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389411 19389412 rs532071068 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19389419 19389420 rs116759209 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 200.000000,4808.000000, 0.039936,0.960064, maf-5-some-pop 732 chr21 19389452 19389453 rs158059 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.493969 0.05458 intron exact 1 24 1000GENOMES,ABI,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 2229.000000,2779.000000, 0.445088,0.554912, maf-5-some-pop,maf-5-all-pops 732 chr21 19389453 19389454 rs149324382 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19389475 19389476 rs542101210 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19389500 19389501 rs191576242 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19389539 19389540 rs13050305 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.317451 0.240729 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4017.000000,991.000000, 0.802117,0.197883, maf-5-some-pop,maf-5-all-pops 732 chr21 19389585 19389586 rs749294397 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389598 19389599 rs556971714 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389602 19389603 rs158058 0 - C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.152001 0.229992 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 415.000000,4593.000000, 0.082867,0.917133, maf-5-some-pop 732 chr21 19389622 19389623 rs536334700 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19389674 19389675 rs158057 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493881 0.054972 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2781.000000,2227.000000, 0.555312,0.444688, maf-5-some-pop,maf-5-all-pops 732 chr21 19389676 19389677 rs572955388 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389685 19389686 rs368364438 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19389731 19389732 rs570434856 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19389789 19389790 rs540154202 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389801 19389802 rs181935438 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19389812 19389813 rs533020743 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19389813 19389814 rs158056 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4843.000000,165.000000, 0.967053,0.032947, maf-5-some-pop 732 chr21 19389836 19389837 rs562891742 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19389841 19389842 rs139398387 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19389925 19389926 rs258647 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.366885 0.220993 intron exact 1 22 1000GENOMES,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1212.000000,3796.000000, 0.242013,0.757987, maf-5-some-pop 732 chr21 19389962 19389963 rs560529464 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19389984 19389985 rs762350774 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19390061 19390062 rs112102240 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4927.000000,81.000000, 0.983826,0.016174, 732 chr21 19390081 19390082 rs552925821 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19390094 19390095 rs548461669 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19390158 19390159 rs571189721 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19390178 19390179 rs762926212 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19390198 19390199 rs185306317 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19390199 19390213 rs766286474 0 + GCCAGAGCGGTATT GCCAGAGCGGTATT -/GCCAGAGCGGTATT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19390208 19390209 rs550634067 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19390212 19390213 rs750418897 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19390225 19390226 rs568830190 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19390233 19390234 rs758516029 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19390253 19390254 rs535966032 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19390254 19390255 rs554616033 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19390262 19390263 rs367671100 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19390280 19390281 rs370227311 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19390290 19390291 rs566573831 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19390293 19390294 rs533769377 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19390295 19390296 rs558317975 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19390378 19390379 rs576767819 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19390407 19390408 rs66518047 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.31014 0.242659 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 961.000000,4047.000000, 0.191893,0.808107, maf-5-some-pop 732 chr21 19390411 19390412 rs66964943 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.31014 0.242659 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 961.000000,4047.000000, 0.191893,0.808107, maf-5-some-pop 732 chr21 19390436 19390437 rs574736908 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19390441 19390442 rs541973094 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19390543 19390544 rs557295146 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19390613 19390614 rs755959162 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19390637 19390638 rs78319812 0 - T T A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 2 BGI,ENSEMBL, 1 A, 2.000000, 1.000000, 732 chr21 19390673 19390674 rs560606157 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19390690 19390691 rs158055 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 11 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4846.000000,162.000000, 0.967652,0.032348, maf-5-some-pop 732 chr21 19390737 19390738 rs868562042 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19390755 19390756 rs370657200 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19390774 19390775 rs749204419 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19390797 19390798 rs546451901 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19390806 19390807 rs375130054 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19390838 19390839 rs158054 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.079983 0.183287 intron exact 1 17 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 209.000000,4799.000000, 0.041733,0.958267, maf-5-some-pop 732 chr21 19390862 19390863 rs778925294 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19390869 19390870 rs532088480 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19390870 19390871 rs745309920 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19390874 19390875 rs539880180 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19390898 19390899 rs752250491 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19390937 19390938 rs111875802 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19390941 19390942 rs550400770 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19390942 19390943 rs116129694 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.071522 0.175059 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4822.000000,186.000000, 0.962859,0.037141, maf-5-some-pop 732 chr21 19390959 19390961 rs780628594 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 732 chr21 19390978 19390979 rs529665958 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19391028 19391029 rs375539477 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19391106 19391107 rs865790676 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19391120 19391121 rs553195430 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19391121 19391122 rs566268129 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19391153 19391154 rs158053 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.086546 0.189163 intron exact 1 11 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4781.000000,227.000000, 0.954673,0.045327, maf-5-some-pop 732 chr21 19391163 19391164 rs190171288 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19391164 19391165 rs573073958 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19391179 19391180 rs570265866 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19391189 19391190 rs148642869 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19391208 19391209 rs556388293 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19391213 19391214 rs116635026 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 5 1000GENOMES,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 732 chr21 19391237 19391238 rs35765534 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19391257 19391258 rs542086951 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19391271 19391272 rs535869017 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19391273 19391274 rs553865093 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19391274 19391275 rs777202941 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19391292 19391293 rs572610990 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19391294 19391295 rs182112961 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19391325 19391326 rs258646 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 165.000000,4843.000000, 0.032947,0.967053, maf-5-some-pop 732 chr21 19391356 19391357 rs78955268 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4943.000000,65.000000, 0.987021,0.012979, maf-5-some-pop 732 chr21 19391384 19391385 rs56289939 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSMP, 2 C,G, 33.000000,4975.000000, 0.006589,0.993411, 732 chr21 19391401 19391402 rs186605004 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 732 chr21 19391420 19391421 rs780469537 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19391483 19391484 rs562436055 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19391544 19391545 rs544205174 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19391548 19391549 rs142100950 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19391604 19391605 rs191187870 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19391649 19391650 rs768857822 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19391701 19391702 rs183850377 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19391720 19391721 rs545456488 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19391726 19391727 rs158052 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 11 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 732 chr21 19391731 19391735 rs200867947 0 + AGAG AGAG -/AGAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron range 1 MixedObserved 1 1000GENOMES, 2 -,AGAG, 30.000000,4978.000000, 0.005990,0.994010, 732 chr21 19391731 19391732 rs867256863 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 732 chr21 19391741 19391744 rs201035577 0 + TAT TAT -/TAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron range 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK, 2 -,TAT, 72.000000,4936.000000, 0.014377,0.985623, 732 chr21 19391744 19391745 rs551815284 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,T, 36.000000,4972.000000, 0.007188,0.992812, 732 chr21 19391748 19391751 rs201790037 0 + AAT AAT -/AAT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 732 chr21 19391750 19391754 rs71990031 0 + TAAT TAAT -/TAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.316485 0.240998 intron range 1 DuplicateObserved 10 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,TAAT, 987.000000,4021.000000, 0.197085,0.802915, maf-5-some-pop 732 chr21 19391750 19391750 rs753570762 0 + - - -/TAAT genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 732 chr21 19391751 19391755 rs59580818 0 + AATT AATT -/AATT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 732 chr21 19391752 19391756 rs546411175 0 + ATTT ATTT -/ATTT genomic deletion by-frequency,by-1000genomes 0.071892 0.175435 intron range 1 1 1000GENOMES, 2 -,ATTT, 187.000000,4821.000000, 0.037340,0.962660, maf-5-some-pop 732 chr21 19391769 19391770 rs158051 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.062977 0.165899 intron exact 1 11 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 732 chr21 19391813 19391814 rs189058045 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19391815 19391816 rs546669806 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19391861 19391862 rs549688098 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19391922 19391923 rs151301428 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 732 chr21 19391938 19391939 rs192816971 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19391975 19391976 rs774011795 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19391978 19391979 rs560028909 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19392012 19392013 rs158050 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.03337 0.124785 intron exact 1 12 1000GENOMES,ABI,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4923.000000,85.000000, 0.983027,0.016973, maf-5-some-pop 732 chr21 19392045 19392046 rs751708168 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392058 19392059 rs200947670 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19392072 19392073 rs759876132 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392073 19392074 rs796584799 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19392078 19392079 rs572329286 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392091 19392092 rs139337802 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19392097 19392098 rs558256412 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392147 19392148 rs773414375 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19392148 19392149 rs183082092 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19392204 19392205 rs544031404 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392231 19392232 rs68057458 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.315758 0.241197 intron exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4024.000000,984.000000, 0.803514,0.196486, maf-5-some-pop 732 chr21 19392234 19392235 rs574322829 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19392235 19392236 rs778712468 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392281 19392282 rs548399234 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19392299 19392300 rs541317352 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392300 19392301 rs73892829 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 732 chr21 19392345 19392346 rs527260940 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19392353 19392354 rs757828551 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392375 19392376 rs545514796 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392404 19392405 rs566856809 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19392407 19392408 rs77333592 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 732 chr21 19392411 19392412 rs537313052 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392432 19392433 rs866145085 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19392453 19392454 rs531291016 0 + T T C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392481 19392482 rs768251295 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392482 19392483 rs549988462 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19392492 19392493 rs568156316 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392514 19392515 rs145544805 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19392541 19392542 rs113166022 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,A, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 732 chr21 19392575 19392576 rs547671610 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392585 19392586 rs566093382 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392614 19392615 rs767150420 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19392615 19392616 rs539871103 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392632 19392633 rs780834446 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392640 19392641 rs562237475 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 732 chr21 19392669 19392670 rs187056979 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392675 19392676 rs570174972 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19392702 19392703 rs534960495 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19392725 19392726 rs550999881 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19392755 19392756 rs555933705 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19392780 19392781 rs191711266 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392790 19392791 rs541728734 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 732 chr21 19392827 19392828 rs113669255 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 732 chr21 19392832 19392833 rs553225334 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19392887 19392888 rs577893766 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392922 19392923 rs545427835 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392925 19392926 rs563726161 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19392929 19392930 rs158049 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.110519 0.207473 intron exact 1 15 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 294.000000,4714.000000, 0.058706,0.941294, maf-5-some-pop 732 chr21 19392932 19392933 rs371786499 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19392974 19392975 rs770256607 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392991 19392999 rs775182221 0 + TGTTTGGG TGTTTGGG -/TGTTTGGG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19392998 19392999 rs543102739 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19393002 19393003 rs561929071 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19393011 19393012 rs529043888 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19393015 19393016 rs547593891 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19393045 19393046 rs376758133 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19393055 19393056 rs8128888 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.316485 0.240998 intron exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4021.000000,987.000000, 0.802915,0.197085, maf-5-some-pop 732 chr21 19393150 19393151 rs147757606 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19393168 19393169 rs756770007 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 732 chr21 19393168 19393169 rs770883380 0 + C C C/G genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19393173 19393174 rs774447938 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19393190 19393191 rs158048 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.449979 0.150028 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1712.000000,3296.000000, 0.341853,0.658147, maf-5-some-pop 732 chr21 19393237 19393238 rs376520023 0 + T T C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 PADH-LAB_SPU,SSMP, 0 732 chr21 19393279 19393280 rs535625654 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19393332 19393336 rs763650673 0 + TGTT TGTT -/TGTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19393346 19393347 rs767783089 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19393347 19393348 rs184301009 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 732 chr21 19393440 19393441 rs189147142 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19393441 19393442 rs79173423 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 732 chr21 19393462 19393463 rs370300051 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19393463 19393464 rs761687434 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19393466 19393467 rs765132753 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19393477 19393478 rs17002280 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4921.000000,87.000000, 0.982628,0.017372, maf-5-some-pop 732 chr21 19393485 19393486 rs779881198 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19393602 19393603 rs158047 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.068931 0.172377 intron exact 1 12 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4829.000000,179.000000, 0.964257,0.035743, maf-5-some-pop 732 chr21 19393611 19393612 rs142616222 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 45.000000,4963.000000, 0.008986,0.991014, 732 chr21 19393675 19393676 rs146434366 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19393692 19393693 rs192814167 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19393741 19393742 rs545291421 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19393769 19393770 rs557737640 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19393849 19393850 rs118081892 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 732 chr21 19393851 19393852 rs185382522 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19394053 19394054 rs190674624 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19394063 19394064 rs76672322 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 45.000000,4963.000000, 0.008986,0.991014, 732 chr21 19394083 19394084 rs564267757 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19394095 19394096 rs5842671 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 14 1000GENOMES,BGI,BILGI_BIOE,BL,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 5008.000000,0.000000, 1.000000,0.000000, 732 chr21 19394095 19394096 rs200199921 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 GMI,ILLUMINA, 0 732 chr21 19394095 19394096 rs869255418 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 DEVINE_LAB, 0 732 chr21 19394099 19394100 rs200995957 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 3 BILGI_BIOE,GMI,ILLUMINA, 0 732 chr21 19394099 19394100 rs398036182 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 732 chr21 19394113 19394114 rs541268258 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19394127 19394128 rs5842672 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 9 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,TISHKOFF, 2 -,A, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19394130 19394132 rs200397811 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 732 chr21 19394130 19394131 rs796169652 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 HGSV, 0 732 chr21 19394132 19394133 rs201704061 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19394133 19394134 rs200403130 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19394134 19394135 rs200971805 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19394135 19394136 rs111264102 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved 1 BCM-HGSC-SUB, 0 732 chr21 19394135 19394137 rs201317537 0 + AC AC -/AC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 732 chr21 19394136 19394137 rs5842673 0 + C C -/C genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 11 1000GENOMES,BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,TISHKOFF, 1 -, 2.000000, 1.000000, 732 chr21 19394136 19394137 rs111815642 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 3 BCM-HGSC-SUB,BUSHMAN,GMI, 1 A, 1.000000, 1.000000, 732 chr21 19394138 19394139 rs398101505 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 GMI,HGSV, 0 732 chr21 19394143 19394144 rs559585205 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19394175 19394176 rs533268808 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19394188 19394189 rs181423235 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 732 chr21 19394208 19394209 rs563720159 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19394210 19394211 rs530786278 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19394214 19394215 rs549339546 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19394221 19394222 rs185954716 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19394232 19394233 rs868431174 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19394235 19394236 rs756411033 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19394246 19394247 rs148960360 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 732 chr21 19394275 19394276 rs546835191 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19394277 19394278 rs143683845 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 732 chr21 19394283 19394284 rs189068577 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19394293 19394294 rs778240604 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19394319 19394320 rs554604287 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 732 chr21 19394325 19394326 rs557335887 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19394326 19394327 rs112311583 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 79.000000,4929.000000, 0.015775,0.984225, 732 chr21 19394368 19394369 rs141282512 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 732 chr21 19394390 19394391 rs555334284 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19394411 19394412 rs528927710 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19394434 19394435 rs113205152 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4929.000000,79.000000, 0.984225,0.015775, 732 chr21 19394435 19394436 rs375047691 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19394444 19394445 rs541080218 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19394463 19394464 rs145446884 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19394477 19394478 rs76049572 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 5 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 732 chr21 19394481 19394482 rs561903923 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19394529 19394530 rs117736126 0 + C C C/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 1 1000GENOMES, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 732 chr21 19394539 19394540 rs563464408 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19394567 19394568 rs138160573 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 732 chr21 19394576 19394577 rs760239597 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 732 chr21 19394601 19394602 rs775833132 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19394641 19394642 rs549147239 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19394649 19394650 rs112097042 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4929.000000,79.000000, 0.984225,0.015775, 732 chr21 19394667 19394668 rs775258598 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19394708 19394709 rs528564519 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19394709 19394710 rs760500298 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19394728 19394729 rs546648002 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19394734 19394735 rs764257458 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19394746 19394747 rs371948222 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 732 chr21 19394766 19394767 rs571522208 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19394770 19394771 rs186751814 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 732 chr21 19394804 19394805 rs372580985 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19394806 19394807 rs551130518 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19394812 19394813 rs158046 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.208474 0.246527 intron exact 1 21 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4416.000000,592.000000, 0.881789,0.118211, maf-5-some-pop,genotype-conflict 732 chr21 19394868 19394869 rs762671855 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19394880 19394881 rs536950102 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19394881 19394882 rs190596127 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19394933 19394934 rs766269195 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19394956 19394957 rs751561670 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19395004 19395005 rs754466240 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19395027 19395028 rs755428546 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19395048 19395049 rs182879584 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19395059 19395060 rs534727117 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19395073 19395074 rs553079179 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19395102 19395103 rs767059130 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19395109 19395110 rs577792471 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19395113 19395114 rs544911391 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19395120 19395121 rs557108780 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19395150 19395151 rs145946690 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19395192 19395193 rs187031413 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19395231 19395232 rs73892830 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 3 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB, 2 C,T, 51.000000,4957.000000, 0.010184,0.989816, 732 chr21 19395236 19395237 rs370476132 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19395271 19395272 rs528434307 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19395272 19395273 rs866398356 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19395302 19395303 rs138357252 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19395351 19395352 rs565065197 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19395363 19395364 rs158045 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 11 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 732 chr21 19395434 19395435 rs367907884 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 -,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19395456 19395457 rs158044 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.442655 0.159323 intron exact 1 25 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3352.000000,1656.000000, 0.669329,0.330671, maf-5-some-pop 732 chr21 19395490 19395491 rs866140449 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19395506 19395507 rs569387673 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19395528 19395529 rs149274183 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 732 chr21 19395540 19395541 rs192379225 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19395571 19395572 rs183496053 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19395573 19395574 rs377332841 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19395577 19395578 rs9980385 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.135484 0.22223 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4642.000000,366.000000, 0.926917,0.073083, maf-5-some-pop 732 chr21 19395610 19395611 rs868632025 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19395626 19395627 rs158043 0 - A A G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.367913 0.220446 intron exact 1 21 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1217.000000,3791.000000, 0.243011,0.756989, maf-5-some-pop 732 chr21 19395688 19395689 rs368573979 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19395699 19395700 rs552991170 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19395703 19395704 rs757631996 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19395709 19395710 rs144516679 0 + C C C/T genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 1 1000GENOMES, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 732 chr21 19395742 19395743 rs158042 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.16618 0.23553 intron exact 1 18 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 458.000000,4550.000000, 0.091454,0.908546, maf-5-some-pop 732 chr21 19395746 19395747 rs556878054 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19395750 19395751 rs575352741 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19395759 19395760 rs569028594 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19395778 19395779 rs537683384 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19395801 19395802 rs554415001 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19395804 19395805 rs148428560 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 732 chr21 19395805 19395806 rs540263910 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19395828 19395829 rs187474840 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19395829 19395830 rs768867757 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19395859 19395860 rs73892831 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 3 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB, 2 C,T, 4957.000000,51.000000, 0.989816,0.010184, maf-5-some-pop 732 chr21 19395868 19395869 rs115090842 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 732 chr21 19395874 19395875 rs544654162 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 732 chr21 19395884 19395885 rs59606686 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 83.000000,4925.000000, 0.016573,0.983427, maf-5-some-pop 732 chr21 19395914 19395915 rs577884805 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19395928 19395929 rs762801967 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19395994 19395995 rs530289985 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19395999 19396000 rs766216317 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396022 19396023 rs201288643 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 732 chr21 19396035 19396036 rs76786144 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 45.000000,4963.000000, 0.008986,0.991014, 732 chr21 19396063 19396064 rs192323060 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 732 chr21 19396080 19396081 rs553317344 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 732 chr21 19396116 19396117 rs76270804 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, maf-5-some-pop 732 chr21 19396118 19396119 rs182677772 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396119 19396120 rs284824 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.036066 0.129354 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4916.000000,92.000000, 0.981629,0.018371, maf-5-some-pop 732 chr21 19396130 19396131 rs867914073 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19396150 19396151 rs767473991 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396184 19396185 rs538361895 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19396188 19396189 rs574515534 0 + C C A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 732 chr21 19396189 19396190 rs543491687 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19396212 19396213 rs258645 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.378765 0.214288 intron exact 1 19 1000GENOMES,ABI,BGI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,KWOK,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1271.000000,3737.000000, 0.253794,0.746206, maf-5-some-pop,maf-5-all-pops 732 chr21 19396220 19396221 rs284825 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.44252 0.159487 intron exact 1 18 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1655.000000,3353.000000, 0.330471,0.669529, maf-5-some-pop 732 chr21 19396232 19396233 rs536475615 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396259 19396260 rs188286155 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19396263 19396263 rs751729398 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396270 19396271 rs572849042 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19396285 19396286 rs533791642 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19396336 19396337 rs753493240 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396341 19396342 rs558538311 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396370 19396371 rs563207674 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19396392 19396393 rs760631060 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19396395 19396396 rs577136907 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396432 19396433 rs544403972 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19396437 19396438 rs576872700 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396458 19396459 rs757620195 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396462 19396463 rs779460675 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396510 19396511 rs192174320 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396531 19396532 rs568209853 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19396553 19396554 rs542485139 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396554 19396555 rs868202627 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19396566 19396567 rs750853161 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396567 19396568 rs560663857 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19396571 19396572 rs377439203 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19396650 19396651 rs141036815 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19396651 19396652 rs118163781 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 732 chr21 19396687 19396688 rs79598480 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.082906 0.185956 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 217.000000,4791.000000, 0.043331,0.956669, maf-5-some-pop 732 chr21 19396688 19396689 rs562289348 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396689 19396690 rs144898074 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19396739 19396740 rs532104666 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19396744 19396745 rs184538499 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 732 chr21 19396765 19396766 rs369846936 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19396797 19396798 rs151248565 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 732 chr21 19396799 19396800 rs535955582 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19396808 19396809 rs73892834 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 4 1000GENOMES,CHURCH_CG54K,ILLUMINA-UK,JMKIDD_LAB, 2 A,G, 51.000000,4957.000000, 0.010184,0.989816, maf-5-some-pop 732 chr21 19396818 19396819 rs190279777 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19396857 19396858 rs533850867 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19396908 19396909 rs558402570 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19396909 19396910 rs34166343 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.195526 0.243993 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 550.000000,4458.000000, 0.109824,0.890176, maf-5-some-pop 732 chr21 19396930 19396931 rs748363299 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19396983 19396984 rs764997869 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19396988 19396989 rs749898011 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19397027 19397028 rs762566625 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19397054 19397055 rs866521278 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19397061 19397062 rs284826 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.431916 0.171483 intron exact 1 28 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 3428.000000,1580.000000, 0.684505,0.315495, maf-5-some-pop 732 chr21 19397080 19397081 rs192412237 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19397081 19397082 rs369128865 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19397115 19397116 rs75277999 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4962.000000,46.000000, 0.990815,0.009185, 732 chr21 19397129 19397130 rs771937624 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19397135 19397136 rs775358200 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19397175 19397176 rs370268894 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19397184 19397185 rs17002282 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 732 chr21 19397219 19397220 rs560676106 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19397223 19397224 rs572640621 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19397245 19397246 rs546538204 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19397258 19397259 rs564828786 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 732 chr21 19397282 19397283 rs531895387 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397283 19397284 rs763562169 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19397288 19397289 rs545227497 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19397296 19397297 rs866967739 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19397312 19397313 rs550589410 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19397318 19397319 rs140423841 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19397369 19397370 rs565512902 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19397409 19397410 rs529749792 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19397420 19397421 rs373290143 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 732 chr21 19397435 19397436 rs113829564 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 732 chr21 19397457 19397458 rs184842611 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 732 chr21 19397469 19397470 rs188920376 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397483 19397484 rs575058992 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19397486 19397490 rs150237945 0 + AAAC AAAC -/AAAC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 732 chr21 19397489 19397490 rs7275230 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.222333 0.248464 intron exact 1 15 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 638.000000,4370.000000, 0.127396,0.872604, maf-5-some-pop 732 chr21 19397490 19397491 rs368610803 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19397509 19397510 rs186179625 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19397563 19397564 rs570767094 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397588 19397589 rs537748823 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397610 19397611 rs189894873 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 26.000000,4982.000000, 0.005192,0.994808, 732 chr21 19397616 19397617 rs34358459 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 ABI, 0 732 chr21 19397651 19397652 rs779233095 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19397677 19397678 rs149980477 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19397734 19397735 rs145287721 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 732 chr21 19397762 19397763 rs117601587 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 101.000000,4907.000000, 0.020168,0.979832, 732 chr21 19397766 19397767 rs758841149 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19397787 19397788 rs572548979 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 732 chr21 19397804 19397805 rs866135464 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19397817 19397818 rs527975010 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 732 chr21 19397831 19397832 rs79025036 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,T, 43.000000,4965.000000, 0.008586,0.991414, 732 chr21 19397832 19397833 rs371024653 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 732 chr21 19397843 19397846 rs780142627 0 + CTT CTT -/CTT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 732 chr21 19397845 19397846 rs180755307 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397849 19397850 rs79060083 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 732 chr21 19397850 19397851 rs185986950 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397853 19397854 rs73325209 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.228253 0.249052 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4350.000000,658.000000, 0.868610,0.131390, maf-5-some-pop 732 chr21 19397854 19397855 rs145472123 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 732 chr21 19397870 19397871 rs541404338 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397952 19397953 rs559853369 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19397985 19397986 rs527379443 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19398037 19398038 rs552397488 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19398044 19398045 rs571433611 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 732 chr21 19398046 19398047 rs868317898 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19398097 19398098 rs761735578 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 732 chr21 19398103 19398104 rs771913305 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19398117 19398118 rs189992528 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19398126 19398127 rs284827 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.405776 0.195535 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1417.000000,3591.000000, 0.282947,0.717053, maf-5-some-pop 732 chr21 19398137 19398138 rs768671209 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19398176 19398176 rs34630670 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 732 chr21 19398192 19398193 rs112951476 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4932.000000,76.000000, 0.984824,0.015176, 732 chr21 19398193 19398194 rs761426199 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19398217 19398218 rs764918580 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19398229 19398230 rs750170536 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19398252 19398253 rs867354907 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 732 chr21 19398257 19398258 rs568485265 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19398300 19398301 rs376773464 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 732 chr21 19398308 19398309 rs141118963 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 732 chr21 19398312 19398313 rs554193091 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19398317 19398318 rs284828 0 - T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.384593 0.210677 intron exact 1 23 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 3707.000000,1301.000000, 0.740216,0.259784, maf-5-some-pop 732 chr21 19398326 19398327 rs183342029 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19398328 19398329 rs752070924 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19398334 19398335 rs547711824 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 732 chr21 19398364 19398365 rs560931059 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 732 chr21 19398381 19398382 rs284829 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.166506 0.235645 intron exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4549.000000,459.000000, 0.908347,0.091653, maf-5-some-pop 732 chr21 19398414 19398415 rs555815034 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 732 chr21 19398423 19398424 rs2824605 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.207864 0.246424 intron exact 1 17 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4418.000000,590.000000, 0.882188,0.117812, maf-5-some-pop 732 chr21 19398487 19398488 rs541467850 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19398488 19398489 rs559716203 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 732 chr21 19398515 19398516 rs568215265 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 732 chr21 19398520 19398521 rs756188740 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 732 chr21 19398537 19398538 rs527391058 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19398545 19398546 rs545537115 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 732 chr21 19398559 19398560 rs796905975 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 732 chr21 19398579 19398580 rs777959338 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19398674 19398675 rs564320153 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19398692 19398693 rs867603421 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19398756 19398757 rs61251389 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 6 1000GENOMES,BL,GMI,HGSV,SSMP,WEILL_CORNELL_DGM, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19398756 19398758 rs386816722 0 + GA GA -/GA/TTT genomic in-del by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_GENOME_DK,TISHKOFF, 0 733 chr21 19398756 19398770 rs763787939 0 + GACAAGCTTGGATC GACAAGCTTGGATC GACAAGCTTGGATC/TTTCAAGCCAACAGA genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 EVA_GENOME_DK, 0 733 chr21 19398756 19398758 rs796169579 0 + GA GA GA/TTT genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 733 chr21 19398756 19398756 rs112541414 0 + - - lengthTooLong genomic in-del by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved,ObservedTooLong 7 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,LUNTER,PADH-LAB_SPU, 2 -,T, 0.000000,5008.000000, 0.000000,1.000000, rs-cluster-nonoverlapping-alleles 733 chr21 19398757 19398758 rs60936774 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 4 1000GENOMES,BL,GMI,HGSV, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19398758 19398758 rs761138823 0 + - - -/TTT genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 733 chr21 19398763 19398764 rs147599581 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 MixedObserved 2 1000GENOMES,BL, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19398763 19398770 rs386816723 0 + TTGGATC TTGGATC CAACAGA/CAACAGG/TTGGATC genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19398763 19398769 rs754414637 0 + TTGGAT TTGGAT -/TTGGAT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_GENOME_DK, 0 733 chr21 19398764 19398765 rs141088572 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 2 1000GENOMES,BL, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19398765 19398766 rs140684603 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 2 1000GENOMES,BL, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19398766 19398767 rs149555958 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 2 1000GENOMES,BL, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19398768 19398769 rs148308058 0 + T T G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,BL,WEILL_CORNELL_DGM, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19398769 19398770 rs139655393 0 + C C A/C/G genomic single by-frequency,by-1000genomes 0.176861 0.239062 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,BL, 3 A,C,G, 4517.000000,0.000000,491.000000, 0.901957,0.000000,0.098043, 733 chr21 19398770 19398770 rs755484391 0 + - - -/AACAGA genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 733 chr21 19398913 19398914 rs530001913 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19398920 19398921 rs545111302 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19398927 19398928 rs550170905 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19398932 19398933 rs749562960 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19398943 19398944 rs754117453 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19398954 19398955 rs284830 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 4940.000000,68.000000, 0.986422,0.013578, 733 chr21 19399009 19399010 rs186596967 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19399061 19399062 rs553364217 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19399076 19399077 rs190464730 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19399091 19399092 rs564490371 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 29.000000,4979.000000, 0.005791,0.994209, 733 chr21 19399095 19399096 rs368124775 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19399099 19399100 rs111760602 0 + G G A/C/G genomic single by-cluster 0.5 0 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19399105 19399106 rs570007263 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19399173 19399174 rs543292440 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19399206 19399207 rs755062124 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19399216 19399217 rs2638083 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 7 1000GENOMES,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4943.000000,65.000000, 0.987021,0.012979, 733 chr21 19399220 19399221 rs36029014 0 + C C -/C genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 DuplicateObserved 17 1000GENOMES,ABI,BILGI_BIOE,BL,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19399220 19399221 rs869077372 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 733 chr21 19399220 19399220 rs782135705 0 + - - -/C genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 733 chr21 19399231 19399232 rs779164775 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19399247 19399248 rs750621627 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 733 chr21 19399263 19399264 rs529204995 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19399267 19399272 rs564227945 0 + TAATT TAATT -/TAATT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TAATT, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19399270 19399271 rs285923 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.494144 0.053796 intron exact 1 26 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2775.000000,2233.000000, 0.554113,0.445887, maf-5-some-pop,maf-5-all-pops 733 chr21 19399292 19399296 rs533282579 0 + CCTT CCTT -/CCTT genomic deletion by-frequency,by-1000genomes 0.003588 0.042202 intron range 1 1 1000GENOMES, 2 -,CCTT, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19399318 19399319 rs285924 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 65.000000,4943.000000, 0.012979,0.987021, 733 chr21 19399319 19399320 rs776639389 0 + C C A/C/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19399320 19399321 rs780055194 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19399328 19399329 rs115173945 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 733 chr21 19399368 19399369 rs1688174 0 + T T A/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 MixedObserved 20 1000GENOMES,BCMHGSC_JDW,BGI,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19399368 19399370 rs70941264 0 + TC TC AG/TC genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual,SingleAlleleFreq 3 HAMMER_LAB,HUMANGENOME_JCVI,TISHKOFF, 1 AG, 2.000000, 1.000000, 733 chr21 19399369 19399370 rs1664705 0 - C C C/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 19 1000GENOMES,BCMHGSC_JDW,BGI,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19399383 19399384 rs183713454 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 35.000000,4973.000000, 0.006989,0.993011, maf-5-some-pop 733 chr21 19399433 19399433 rs35428822 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron between 1 17 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,A, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19399442 19399442 rs397809029 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 GMI,HGSV, 0 733 chr21 19399485 19399486 rs115351803 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 79.000000,4929.000000, 0.015775,0.984225, maf-5-some-pop 733 chr21 19399489 19399490 rs567482063 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19399557 19399558 rs549424357 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19399561 19399562 rs187845509 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19399583 19399584 rs553219533 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19399603 19399604 rs141175353 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19399606 19399607 rs150713365 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19399614 19399615 rs532648506 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19399615 19399615 rs562920341 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 733 chr21 19399623 19399623 rs367946587 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 733 chr21 19399628 19399629 rs867988815 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19399637 19399638 rs372216205 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19399666 19399667 rs576101943 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19399685 19399686 rs191514797 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19399755 19399756 rs868507505 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19399783 19399784 rs561873570 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19399786 19399787 rs183121643 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19399812 19399813 rs554405813 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19399815 19399816 rs373793870 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19399824 19399825 rs559719385 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19399830 19399831 rs531675964 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19399840 19399841 rs375782527 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 733 chr21 19399844 19399845 rs138000038 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19399846 19399847 rs767845777 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19399852 19399853 rs374980499 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19399857 19399858 rs552077443 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19399864 19399865 rs530920837 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19399877 19399878 rs551861193 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19399884 19399885 rs73196629 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4933.000000,75.000000, 0.985024,0.014976, 733 chr21 19399916 19399917 rs756165914 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19399924 19399925 rs567539096 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19399927 19399928 rs528686544 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19399939 19399940 rs114003413 0 + T T C/T genomic single by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 733 chr21 19399959 19399960 rs768576778 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19399979 19399980 rs143486811 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19399999 19400000 rs187825459 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19400024 19400025 rs764198648 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19400041 19400042 rs533783486 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19400045 19400046 rs557470237 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19400059 19400060 rs77186106 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 79.000000,4929.000000, 0.015775,0.984225, maf-5-some-pop 733 chr21 19400109 19400110 rs537158959 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19400141 19400142 rs197512 0 - A A C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.474272 0.110462 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 25 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3072.000000,1936.000000, 0.613419,0.386581, maf-5-some-pop,maf-5-all-pops 733 chr21 19400196 19400197 rs573764902 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,untranslated-5 exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19400204 19400205 rs567257171 0 + T T C/T genomic single unknown 0 0 intron,untranslated-5 exact 1 1 EVA-GONL, 0 733 chr21 19400206 19400207 rs197513 0 - C C C/G genomic single by-cluster,by-1000genomes 0 0 intron,untranslated-5 exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19400232 19400233 rs75288788 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.041436 0.137845 intron,untranslated-5 exact 1 7 1000GENOMES,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4902.000000,106.000000, 0.978834,0.021166, maf-5-some-pop 733 chr21 19400236 19400237 rs191460777 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron,untranslated-5 exact 1 2 1000GENOMES,GMI, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19400240 19400241 rs147304631 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron,untranslated-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 733 chr21 19400258 19400259 rs77846498 0 + C C C/T genomic single unknown 0 0 intron,untranslated-5 exact 1 1 BGI, 0 733 chr21 19400259 19400260 rs772885552 0 + G G A/G genomic single unknown 0 0 intron,untranslated-5 exact 1 1 EVA_DECODE, 0 733 chr21 19400270 19400271 rs752180914 0 + A A A/G genomic single unknown 0 0 intron,untranslated-5 exact 1 1 EVA_MGP, 0 733 chr21 19400277 19400278 rs563551503 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-5 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19400339 19400340 rs452236 0 - A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.480775 0.09614 intron exact 1 20 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2995.000000,2013.000000, 0.598043,0.401957, maf-5-some-pop,maf-5-all-pops 733 chr21 19400343 19400344 rs418505 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.472616 0.113763 intron exact 1 19 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3090.000000,1918.000000, 0.617013,0.382987, maf-5-some-pop,maf-5-all-pops 733 chr21 19400362 19400363 rs140871533 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19400379 19400380 rs528553006 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19400385 19400386 rs546835538 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19400438 19400439 rs571764470 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19400464 19400465 rs532703625 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19400481 19400482 rs538316934 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19400526 19400531 rs147443488 0 + CCTCC CCTCC -/CCTCC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,SSMP, 0 733 chr21 19400548 19400548 rs143297215 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19400561 19400562 rs60219425 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 733 chr21 19400562 19400563 rs57679017 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,DDI,EVA-GONL,HGSV,WEILL_CORNELL_DGM, 0 733 chr21 19400567 19400568 rs77995094 0 + T T C/T genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 5 1000GENOMES,EVA-GONL,HAMMER_LAB,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, maf-5-some-pop,maf-5-all-pops 733 chr21 19400576 19400577 rs197514 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.476487 0.105846 intron exact 1 8 1000GENOMES,DDI,EVA-GONL,HGSV,ILLUMINA-UK,KWOK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3047.000000,1961.000000, 0.608427,0.391573, maf-5-some-pop,maf-5-all-pops 733 chr21 19400582 19400583 rs197515 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.476401 0.106032 intron exact 1 6 1000GENOMES,DDI,EVA_GENOME_DK,HGSV,KWOK,WEILL_CORNELL_DGM, 2 C,T, 3048.000000,1960.000000, 0.608626,0.391374, maf-5-some-pop,maf-5-all-pops 733 chr21 19400590 19400591 rs865805921 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19400591 19400597 rs747161340 0 + TTCCCC TTCCCC -/TTCCCC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 733 chr21 19400593 19400595 rs149126007 0 + CC CC -/CC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 4 1000GENOMES,DDI,EVA_GENOME_DK,LUNTER, 0 733 chr21 19400595 19400599 rs759585922 0 + CCTT CCTT -/CCTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSMP, 0 733 chr21 19400595 19400597 rs796410657 0 + CC CC CC/TT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 733 chr21 19400595 19400596 rs867918551 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 733 chr21 19400595 19400595 rs377144650 0 + - - -/TT/TTTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.49931 0.018557 intron between 1 MixedObserved,InconsistentAlleles 3 1000GENOMES,DDI,LUNTER, 2 -,TT, 2597.000000,2411.000000, 0.518570,0.481430, maf-5-some-pop,maf-5-all-pops 733 chr21 19400596 19400597 rs868425203 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19400610 19400611 rs537077900 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19400619 19400620 rs184526805 0 + C C C/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 733 chr21 19400640 19400641 rs197516 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.49931 0.018557 intron exact 1 11 1000GENOMES,BL,DDI,EVA-GONL,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,KWOK,SC_JCM,WEILL_CORNELL_DGM, 2 C,T, 2597.000000,2411.000000, 0.518570,0.481430, maf-5-some-pop,maf-5-all-pops 733 chr21 19400671 19400672 rs770765627 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19400689 19400690 rs567416483 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19400695 19400696 rs534661159 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19400697 19400698 rs187791913 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19400741 19400742 rs371113880 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19400762 19400763 rs191933466 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19400801 19400802 rs577736026 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19400821 19400822 rs112093711 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.146314 0.227484 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4610.000000,398.000000, 0.920527,0.079473, maf-5-some-pop 733 chr21 19400832 19400833 rs543356878 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19400867 19400868 rs185359885 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19400877 19400878 rs866979321 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19400883 19400884 rs197517 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 733 chr21 19400956 19400957 rs562698704 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19400986 19400987 rs560941570 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19400991 19400992 rs547533377 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19400992 19400993 rs143285528 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 733 chr21 19401039 19401040 rs34588468 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19401047 19401048 rs197518 0 - T T A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.473634 0.111748 intron exact 1 20 1000GENOMES,ABI,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,KWOK,SC_JCM,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1929.000000,3079.000000, 0.385184,0.614816, maf-5-some-pop,maf-5-all-pops 733 chr21 19401092 19401093 rs540680823 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19401111 19401112 rs565353478 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19401180 19401182 rs771861067 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19401202 19401203 rs532711348 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19401205 19401206 rs550879555 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19401211 19401212 rs563236591 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19401217 19401218 rs190093982 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19401246 19401247 rs549003222 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19401353 19401354 rs567232796 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19401354 19401358 rs565417481 0 + CTTT CTTT -/CTTT genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19401369 19401370 rs3848848 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.14665 0.227637 intron exact 1 15 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4609.000000,399.000000, 0.920327,0.079673, maf-5-some-pop 733 chr21 19401430 19401431 rs370297483 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19401451 19401451 rs34942745 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19401456 19401457 rs76395570 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19401464 19401465 rs181232461 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19401503 19401504 rs184945952 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19401514 19401515 rs761132229 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19401522 19401523 rs575192085 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19401560 19401561 rs536093749 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19401577 19401578 rs197519 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.474544 0.10991 intron exact 1 22 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1939.000000,3069.000000, 0.387181,0.612819, maf-5-some-pop,maf-5-all-pops 733 chr21 19401628 19401629 rs572867244 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19401661 19401662 rs35247559 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19401675 19401676 rs78641220 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.082541 0.185628 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 216.000000,4792.000000, 0.043131,0.956869, maf-5-some-pop 733 chr21 19401784 19401786 rs537714388 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.007163 0.059414 intron range 1 1 1000GENOMES, 2 -,AT, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19401796 19401797 rs188280846 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19401844 19401845 rs146489427 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19401861 19401863 rs3991155 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.499451 0.016564 intron range 1 14 1000GENOMES,BGI,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,TT, 2587.000000,2421.000000, 0.516573,0.483427, maf-5-some-pop,maf-5-all-pops 733 chr21 19401862 19401863 rs76191149 0 + T T G/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 BGI,GMI, 0 733 chr21 19401862 19401864 rs397842245 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TSC-CSHL, 0 733 chr21 19401864 19401865 rs373125335 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 733 chr21 19401900 19401901 rs74354990 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 3 1000GENOMES,EVA_DECODE,TISHKOFF, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, 733 chr21 19401944 19401945 rs141054879 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19401972 19401973 rs568014204 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,G, 29.000000,4979.000000, 0.005791,0.994209, 733 chr21 19401977 19401978 rs373320822 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19402008 19402009 rs150139985 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19402023 19402024 rs2849912 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.484701 0.086112 intron exact 1 MixedObserved 18 1000GENOMES,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2066.000000,2942.000000, 0.412540,0.587460, maf-5-some-pop,maf-5-all-pops 733 chr21 19402023 19402025 rs201136035 0 + GC GC -/GC genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 733 chr21 19402023 19402025 rs386816725 0 + GC GC AT/GC genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19402024 19402025 rs2591640 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.48498 0.08535 intron exact 1 MixedObserved 18 1000GENOMES,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2938.000000,2070.000000, 0.586661,0.413339, maf-5-some-pop,maf-5-all-pops 733 chr21 19402024 19402025 rs374819876 0 + C C AT/GC genomic mnp unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,ObservedMismatch 1 ABI, 0 733 chr21 19402031 19402032 rs754703982 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402046 19402047 rs138663950 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19402101 19402102 rs781168875 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402147 19402148 rs148898984 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19402163 19402164 rs756063512 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402164 19402165 rs777865992 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402172 19402173 rs571357319 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19402220 19402221 rs538349811 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402256 19402257 rs550753506 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19402271 19402272 rs568669310 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402292 19402293 rs748677872 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402304 19402305 rs770540701 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402306 19402307 rs12626203 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.142609 0.225759 intron exact 1 15 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4621.000000,387.000000, 0.922724,0.077276, maf-5-some-pop 733 chr21 19402341 19402342 rs554414964 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402387 19402388 rs745575997 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402389 19402390 rs572779310 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19402395 19402396 rs534238427 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402402 19402403 rs771653979 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402451 19402452 rs369799025 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19402521 19402522 rs143453337 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402522 19402523 rs180902768 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19402528 19402529 rs544341050 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402529 19402530 rs556813936 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19402575 19402576 rs569505479 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402637 19402638 rs186312864 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19402638 19402639 rs77610073 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 733 chr21 19402643 19402644 rs560798927 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19402673 19402674 rs774192655 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19402680 19402681 rs527966368 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19402730 19402731 rs166759 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.482459 0.091993 intron exact 1 25 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 2035.000000,2973.000000, 0.406350,0.593650, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19402772 19402773 rs771568631 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19402823 19402824 rs774869371 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19402833 19402834 rs564678021 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19402836 19402837 rs532241839 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19402957 19402958 rs278003 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.49941 0.017162 intron exact 1 22 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2418.000000,2590.000000, 0.482827,0.517173, maf-5-some-pop,maf-5-all-pops 733 chr21 19402964 19402965 rs137877451 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 4 1000GENOMES,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 733 chr21 19402999 19403000 rs763190448 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403004 19403005 rs113128043 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 G,T, 68.000000,4940.000000, 0.013578,0.986422, 733 chr21 19403009 19403010 rs752478967 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403019 19403020 rs59447622 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,WEILL_CORNELL_DGM, 2 C,T, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 733 chr21 19403020 19403021 rs773626042 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19403082 19403083 rs769793660 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19403111 19403112 rs777847631 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403118 19403119 rs574292676 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19403128 19403129 rs753870847 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403147 19403148 rs3895608 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.142947 0.22592 intron exact 1 16 1000GENOMES,ABI,AFFY,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 388.000000,4620.000000, 0.077476,0.922524, maf-5-some-pop 733 chr21 19403176 19403177 rs533800805 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19403205 19403206 rs766566564 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19403221 19403222 rs157740 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.475613 0.107697 intron exact 1 28 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1951.000000,3057.000000, 0.389577,0.610423, maf-5-some-pop,maf-5-all-pops 733 chr21 19403308 19403309 rs114771848 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 50.000000,4958.000000, 0.009984,0.990016, 733 chr21 19403316 19403317 rs538360498 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19403326 19403327 rs745394205 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403372 19403373 rs3848849 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.143284 0.226079 intron exact 1 15 1000GENOMES,ABI,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4619.000000,389.000000, 0.922324,0.077676, maf-5-some-pop 733 chr21 19403377 19403378 rs779689334 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403379 19403380 rs752775857 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19403390 19403391 rs145826864 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19403414 19403415 rs371187207 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 733 chr21 19403421 19403422 rs138715808 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19403429 19403430 rs747372641 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403430 19403431 rs554401615 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19403444 19403445 rs542539497 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19403453 19403454 rs3848850 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.087272 0.189788 intron exact 1 14 1000GENOMES,ABI,AFFY,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TSC-CSHL, 2 A,G, 4779.000000,229.000000, 0.954273,0.045727, maf-5-some-pop,genotype-conflict 733 chr21 19403466 19403467 rs111644762 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 MixedObserved 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 49.000000,4959.000000, 0.009784,0.990216, 733 chr21 19403466 19403469 rs386816726 0 + TGT TGT CGC/TGT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19403468 19403469 rs157739 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.475789 0.107327 intron exact 1 29 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3055.000000,1953.000000, 0.610024,0.389976, maf-5-some-pop,maf-5-all-pops 733 chr21 19403505 19403506 rs374201191 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19403510 19403511 rs564244013 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19403559 19403560 rs181567570 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19403561 19403562 rs749576713 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403586 19403593 rs762444367 0 + CTTTAAC CTTTAAC -/CTTTAAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403599 19403600 rs757065635 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19403602 19403603 rs545419338 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19403615 19403616 rs770231186 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403626 19403627 rs565213095 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19403658 19403659 rs116939748 0 + A A A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19403714 19403715 rs562277708 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19403716 19403717 rs527752950 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19403717 19403718 rs778879198 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19403754 19403755 rs141546212 0 + A A A/C genomic single by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 4974.000000,34.000000, 0.993211,0.006789, 733 chr21 19403784 19403785 rs773291211 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403789 19403790 rs186883798 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 G,T, 17.000000,4991.000000, 0.003395,0.996605, 733 chr21 19403792 19403793 rs541144793 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19403799 19403800 rs560710265 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19403812 19403813 rs79973721 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.141596 0.225274 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4624.000000,384.000000, 0.923323,0.076677, maf-5-some-pop 733 chr21 19403822 19403823 rs552161109 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19403852 19403852 rs202134096 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron between 1 1 1000GENOMES, 2 -,T, 4979.000000,29.000000, 0.994209,0.005791, 733 chr21 19403866 19403867 rs570705686 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19403942 19403943 rs111562409 0 + C C C/G genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19403971 19403972 rs371120766 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19403998 19404000 rs765626333 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404051 19404052 rs2591641 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.219049 0.248077 intron exact 1 MixedObserved 15 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 627.000000,4381.000000, 0.125200,0.874800, maf-5-some-pop 733 chr21 19404051 19404054 rs386816727 0 + TTG TTG GTC/TTG genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19404053 19404054 rs2560725 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.219049 0.248077 intron exact 1 13 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 627.000000,4381.000000, 0.125200,0.874800, maf-5-some-pop 733 chr21 19404094 19404095 rs568614271 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19404139 19404140 rs150871313 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19404168 19404169 rs757170153 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404172 19404173 rs2824606 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.485255 0.084587 intron exact 1 19 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2074.000000,2934.000000, 0.414137,0.585863, maf-5-some-pop,maf-5-all-pops 733 chr21 19404188 19404189 rs139427116 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19404214 19404215 rs749882965 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404262 19404263 rs191729971 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19404276 19404277 rs185734 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.243633 0.249919 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4297.000000,711.000000, 0.858027,0.141973, maf-5-some-pop,maf-5-all-pops 733 chr21 19404350 19404351 rs565931173 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 SSIP,WEILL_CORNELL_DGM, 0 733 chr21 19404354 19404355 rs370230972 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19404363 19404364 rs183258067 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19404366 19404367 rs553844225 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19404387 19404388 rs187023657 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19404389 19404390 rs746717287 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404393 19404394 rs755307825 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404421 19404422 rs149633833 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19404425 19404426 rs113080568 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19404465 19404466 rs111868927 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19404515 19404516 rs781577400 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404582 19404583 rs534896038 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19404597 19404598 rs144237101 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19404598 19404599 rs197520 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.027953 0.114869 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,WEILL_CORNELL_DGM, 2 C,T, 4937.000000,71.000000, 0.985823,0.014177, maf-5-some-pop 733 chr21 19404615 19404616 rs372519149 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WARNICH_LAB, 0 733 chr21 19404627 19404628 rs189553221 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19404643 19404644 rs773594598 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404676 19404677 rs182245400 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19404727 19404728 rs140004117 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19404753 19404754 rs571273708 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19404755 19404756 rs771191166 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404768 19404769 rs774692100 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19404776 19404777 rs531631580 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19404783 19404784 rs112699854 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19404793 19404794 rs117440388 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19404821 19404822 rs568421632 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19404827 19404828 rs537187000 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19404882 19404883 rs535966609 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19404926 19404927 rs187626186 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19404969 19404970 rs554938939 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405019 19405020 rs539678023 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19405027 19405028 rs34699204 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 733 chr21 19405027 19405028 rs558321158 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19405030 19405031 rs767875678 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405051 19405052 rs576667519 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405073 19405074 rs537308540 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405101 19405102 rs555756550 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405102 19405103 rs776429839 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405112 19405113 rs761519500 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405120 19405121 rs113986445 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19405132 19405133 rs541404608 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405154 19405155 rs192400572 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405158 19405159 rs2824607 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.457737 0.139088 intron exact 1 21 1000GENOMES,AFFY,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1776.000000,3232.000000, 0.354633,0.645367, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19405172 19405173 rs545723042 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19405214 19405215 rs554706904 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19405231 19405235 rs570546876 0 + GTTA GTTA -/GTTA genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,GTTA, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19405240 19405241 rs185684124 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405257 19405258 rs531644066 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405267 19405268 rs765917756 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405274 19405274 rs35358387 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19405298 19405299 rs139599066 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 733 chr21 19405345 19405346 rs371893229 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19405390 19405391 rs28489953 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,TISHKOFF, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 733 chr21 19405395 19405396 rs151186439 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19405411 19405412 rs547755184 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405448 19405449 rs566081784 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19405487 19405488 rs3909844 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.487621 0.077694 intron exact 1 22 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2110.000000,2898.000000, 0.421326,0.578674, maf-5-some-pop,maf-5-all-pops 733 chr21 19405501 19405502 rs772838219 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19405533 19405534 rs140404636 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19405552 19405553 rs748476446 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405564 19405565 rs756500741 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405580 19405581 rs569879556 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19405587 19405588 rs157738 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.029504 0.117819 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KWOK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 733 chr21 19405605 19405606 rs764254966 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19405680 19405681 rs117463223 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19405730 19405731 rs567601069 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19405748 19405749 rs116942204 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 733 chr21 19405778 19405779 rs774524276 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405785 19405786 rs553723122 0 + T T C/T genomic single by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 1 1000GENOMES, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19405799 19405800 rs745959429 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405804 19405805 rs572052693 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19405849 19405850 rs772271765 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405857 19405858 rs150363574 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19405882 19405883 rs775642599 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405922 19405923 rs761657863 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19405927 19405928 rs2824608 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.48692 0.079806 intron exact 1 21 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2909.000000,2099.000000, 0.580871,0.419129, maf-5-some-pop,maf-5-all-pops 733 chr21 19405969 19405970 rs2824609 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.486529 0.080956 intron exact 1 19 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 2915.000000,2093.000000, 0.582069,0.417931, maf-5-some-pop,maf-5-all-pops 733 chr21 19405977 19405978 rs34919289 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19405984 19405985 rs115168872 0 + T T G/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 G,T, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19405989 19405990 rs9983757 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 733 chr21 19405992 19405993 rs9984691 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 733 chr21 19406000 19406001 rs561998672 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19406001 19406002 rs762842073 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406016 19406017 rs12627521 0 + G G G/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 CSHL-HAPMAP, 1 G, 420.000000, 1.000000, 733 chr21 19406070 19406071 rs529194429 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19406082 19406083 rs796621089 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19406083 19406084 rs766322540 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406114 19406115 rs541113743 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19406141 19406142 rs559659204 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19406209 19406210 rs533281900 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19406212 19406214 rs758066018 0 + TG TG -/TG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19406221 19406222 rs188629382 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19406292 19406293 rs569791528 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19406303 19406304 rs531043175 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19406314 19406315 rs549154681 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19406317 19406318 rs564206399 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19406357 19406358 rs751008757 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406358 19406359 rs567663520 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19406374 19406375 rs759048923 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406390 19406391 rs539571887 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,C, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19406419 19406420 rs193000354 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19406450 19406451 rs767192727 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406463 19406464 rs746510219 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19406548 19406549 rs768005514 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19406561 19406562 rs766670566 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406615 19406616 rs147564524 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 733 chr21 19406632 19406633 rs756477751 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406647 19406648 rs565638173 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19406648 19406649 rs539183017 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19406673 19406674 rs557916473 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19406688 19406689 rs372276742 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19406722 19406723 rs558878237 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406725 19406726 rs184705826 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19406731 19406731 rs34038097 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19406793 19406794 rs757780937 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406822 19406823 rs543682688 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19406882 19406883 rs555598066 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19406889 19406890 rs755187098 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19406907 19406908 rs573862167 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19406912 19406913 rs75736751 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19406924 19406925 rs867461596 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19406931 19406932 rs749730685 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19406960 19406961 rs145763241 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19406980 19406981 rs76315653 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4960.000000,48.000000, 0.990415,0.009585, 733 chr21 19406985 19406986 rs138749014 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19406989 19406990 rs563479322 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19407029 19407030 rs149266500 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19407044 19407045 rs529125208 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19407082 19407083 rs188725363 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19407107 19407108 rs567483705 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19407136 19407137 rs772103813 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407167 19407168 rs780304541 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407176 19407177 rs528800564 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19407190 19407191 rs76422032 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19407191 19407192 rs74676684 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19407194 19407195 rs75546358 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19407217 19407218 rs747239005 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407229 19407230 rs2657209 0 - C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.219349 0.248114 intron exact 1 20 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 628.000000,4380.000000, 0.125399,0.874601, maf-5-some-pop 733 chr21 19407236 19407237 rs772939002 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407262 19407263 rs571828252 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19407263 19407265 rs759854188 0 + GA GA -/GA genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407347 19407348 rs376396925 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19407358 19407359 rs762746396 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407391 19407392 rs770784910 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407460 19407461 rs79348029 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.095934 0.196885 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 G,T, 253.000000,4755.000000, 0.050519,0.949481, maf-5-some-pop 733 chr21 19407499 19407499 rs35074853 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19407509 19407510 rs551387950 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19407543 19407544 rs759071985 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407575 19407576 rs766984770 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407583 19407584 rs143776864 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19407610 19407611 rs563357070 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407625 19407625 rs35198383 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19407681 19407682 rs537095920 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19407682 19407682 rs368837546 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron between 1 2 1000GENOMES,LUNTER, 2 -,T, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19407688 19407689 rs3133059 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.232359 0.249377 intron exact 1 20 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 672.000000,4336.000000, 0.134185,0.865815, maf-5-some-pop 733 chr21 19407733 19407734 rs754189509 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19407734 19407735 rs573751636 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19407740 19407741 rs372941489 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 733 chr21 19407787 19407788 rs77448810 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19407811 19407812 rs8131569 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.032211 0.122752 intron exact 1 7 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,KRIBB_YJKIM,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop,genotype-conflict 733 chr21 19407817 19407818 rs565630553 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19407843 19407844 rs764201051 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19407893 19407894 rs180739399 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19407922 19407923 rs369200704 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19408020 19408021 rs568381626 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19408083 19408084 rs563293250 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408109 19408112 rs148095157 0 + TCT TCT -/TCT genomic deletion by-cluster,by-frequency,by-1000genomes 0.461037 0.134028 intron range 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,TCT, 1805.000000,3203.000000, 0.360423,0.639577, maf-5-some-pop,maf-5-all-pops 733 chr21 19408114 19408116 rs201155288 0 + TT TT -/TT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 733 chr21 19408116 19408119 rs377741536 0 + CTT CTT -/CTT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19408117 19408120 rs199716864 0 + TTT TTT -/TTT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 733 chr21 19408163 19408164 rs73891124 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.138546 0.223781 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4633.000000,375.000000, 0.925120,0.074880, maf-5-some-pop 733 chr21 19408181 19408182 rs73891125 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.138546 0.223781 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 375.000000,4633.000000, 0.074880,0.925120, maf-5-some-pop 733 chr21 19408182 19408183 rs561169974 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19408202 19408203 rs528713841 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19408211 19408212 rs546865284 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408222 19408223 rs751019691 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408235 19408236 rs565612730 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408253 19408254 rs183876365 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19408264 19408265 rs114086737 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19408265 19408266 rs866709520 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19408301 19408302 rs3133060 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.232651 0.249397 intron exact 1 27 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 673.000000,4335.000000, 0.134385,0.865615, maf-5-some-pop,genotype-conflict 733 chr21 19408320 19408321 rs148128469 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19408330 19408331 rs865804532 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19408353 19408354 rs747138498 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408374 19408375 rs768698513 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408451 19408452 rs781394072 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408464 19408465 rs142014380 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19408532 19408533 rs73891126 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19408543 19408544 rs567232119 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408544 19408545 rs534857443 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408551 19408552 rs749075877 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408553 19408554 rs2824610 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.488118 0.076155 intron exact 1 26 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2118.000000,2890.000000, 0.422923,0.577077, maf-5-some-pop,maf-5-all-pops 733 chr21 19408585 19408586 rs774247524 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408590 19408591 rs577869492 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19408602 19408603 rs538502010 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408631 19408632 rs377553720 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19408658 19408659 rs73891127 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.138207 0.223612 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4634.000000,374.000000, 0.925319,0.074680, maf-5-some-pop 733 chr21 19408706 19408707 rs368540195 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19408733 19408734 rs112920723 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 4 BUSHMAN,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 1 C, 1.000000, 1.000000, 733 chr21 19408741 19408742 rs542592466 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19408756 19408757 rs558828984 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408764 19408765 rs372586556 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19408802 19408803 rs561468970 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408847 19408848 rs573248185 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19408892 19408893 rs73196646 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4816.000000,192.000000, 0.961661,0.038339, maf-5-some-pop 733 chr21 19408916 19408917 rs762247741 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408922 19408923 rs565290124 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19408935 19408936 rs867853825 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19408973 19408974 rs541069486 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19408983 19408986 rs778747381 0 + GAA GAA -/GAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19409000 19409001 rs140180239 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4973.000000,35.000000, 0.993011,0.006989, 733 chr21 19409055 19409056 rs551267350 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19409087 19409088 rs188399052 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19409113 19409114 rs530554505 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409144 19409145 rs758786950 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19409162 19409163 rs557844349 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19409173 19409174 rs112492490 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 124.000000,4884.000000, 0.024760,0.975240, maf-5-some-pop 733 chr21 19409226 19409227 rs567399661 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409255 19409256 rs751523541 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19409295 19409296 rs542108347 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19409354 19409355 rs574844518 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19409403 19409404 rs75180200 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.094856 0.196037 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4758.000000,250.000000, 0.950080,0.049920, maf-5-some-pop 733 chr21 19409418 19409419 rs546781068 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409419 19409420 rs374390607 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19409427 19409428 rs182326689 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19409445 19409446 rs538571836 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409496 19409497 rs556868277 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19409516 19409517 rs187405982 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19409521 19409522 rs568796812 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409528 19409529 rs190053576 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19409549 19409550 rs536289151 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19409565 19409566 rs2591642 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SC_JCM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19409577 19409578 rs573291194 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409631 19409632 rs536594861 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19409637 19409638 rs559127170 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409668 19409669 rs158040 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.470327 0.118136 intron exact 1 27 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3114.000000,1894.000000, 0.621805,0.378195, maf-5-some-pop,maf-5-all-pops 733 chr21 19409703 19409704 rs74373290 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 733 chr21 19409739 19409741 rs200948442 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TT, 67.000000,4941.000000, 0.013379,0.986621, 733 chr21 19409757 19409758 rs181750927 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19409781 19409782 rs149780 0 - C C G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.341909 0.232492 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 1096.000000,3912.000000, 0.218850,0.781150, maf-5-some-pop 733 chr21 19409832 19409833 rs776848255 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19409862 19409863 rs762024854 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19409882 19409883 rs542609462 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19409891 19409892 rs560678735 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19409928 19409929 rs28629822 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.104859 0.203554 intron exact 1 11 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP, 2 C,T, 4730.000000,278.000000, 0.944489,0.055511, maf-5-some-pop 733 chr21 19409940 19409941 rs139633181 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19409985 19409986 rs374113468 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19409988 19409989 rs772978881 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19409997 19409998 rs758299390 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 733 chr21 19410042 19410043 rs559723351 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19410102 19410103 rs746488887 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19410122 19410123 rs528374691 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19410127 19410129 rs868558792 0 + AG AG -/AG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 733 chr21 19410131 19410133 rs202026509 0 + AG AG -/AG genomic deletion by-frequency 0.010725 0.072438 intron range 1 1 TISHKOFF, 2 -,AG, 27.000000,4981.000000, 0.005391,0.994609, 733 chr21 19410208 19410209 rs571301168 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19410242 19410243 rs185331779 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19410283 19410284 rs550354055 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19410284 19410285 rs556924049 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19410310 19410311 rs2657207 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.231775 0.249335 intron exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 670.000000,4338.000000, 0.133786,0.866214, maf-5-some-pop 733 chr21 19410341 19410342 rs765008274 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19410361 19410362 rs150132427 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 2 BL,EVA_GENOME_DK, 0 733 chr21 19410361 19410362 rs536095888 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19410405 19410406 rs564718423 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19410449 19410450 rs371450553 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19410464 19410465 rs77482866 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.093057 0.194599 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,GMI,ILLUMINA, 2 C,T, 245.000000,4763.000000, 0.048922,0.951078, maf-5-some-pop 733 chr21 19410464 19410464 rs138494898 0 + - - -/AG genomic insertion by-cluster,by-frequency,by-1000genomes 0.093057 0.194599 intron between 1 MixedObserved 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,AG, 4763.000000,245.000000, 0.951078,0.048922, maf-5-some-pop 733 chr21 19410520 19410521 rs566720191 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19410533 19410534 rs576853047 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA-GONL,JMKIDD_LAB,SSIP, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19410551 19410552 rs561689055 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19410567 19410568 rs550359043 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19410569 19410570 rs868570401 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19410605 19410606 rs371940022 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19410641 19410642 rs2258385 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.233235 0.249437 intron exact 1 28 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4333.000000,675.000000, 0.865216,0.134784, maf-5-some-pop 733 chr21 19410645 19410646 rs556746469 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19410659 19410660 rs773457036 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19410664 19410665 rs575217576 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19410670 19410671 rs542120478 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19410683 19410684 rs75649157 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,C, 4988.000000,20.000000, 0.996006,0.003994, 733 chr21 19410710 19410711 rs868827086 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19410723 19410724 rs528105243 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19410737 19410737 rs141799749 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron between 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,T, 4961.000000,47.000000, 0.990615,0.009385, 733 chr21 19410757 19410758 rs367817911 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 733 chr21 19410763 19410764 rs766787857 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19410780 19410781 rs535618074 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19410789 19410790 rs158039 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.046014 0.144533 intron exact 1 14 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 118.000000,4890.000000, 0.023562,0.976438, maf-5-some-pop,genotype-conflict 733 chr21 19410818 19410819 rs532075349 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19410828 19410829 rs565960853 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19410844 19410845 rs755025734 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19410874 19410875 rs534982054 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19410919 19410920 rs550366287 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19410935 19410936 rs190179336 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 733 chr21 19410940 19410941 rs182621956 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19410958 19410959 rs374945573 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19411019 19411020 rs752803425 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411039 19411040 rs545928598 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19411044 19411045 rs185010328 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19411059 19411060 rs12627396 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.103082 0.202275 intron exact 1 10 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 273.000000,4735.000000, 0.054513,0.945487, maf-5-some-pop 733 chr21 19411089 19411089 rs776334286 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411111 19411112 rs145566954 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19411140 19411141 rs570959083 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19411170 19411171 rs777983948 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411174 19411175 rs76677338 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.103082 0.202275 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4735.000000,273.000000, 0.945487,0.054513, maf-5-some-pop 733 chr21 19411206 19411207 rs148444445 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19411207 19411208 rs758270397 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411211 19411212 rs575056700 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19411239 19411245 rs138725201 0 + TAAAAA TAAAAA -/TAAAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.090169 0.192235 intron range 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TAAAAA, 237.000000,4771.000000, 0.047324,0.952676, maf-5-some-pop 733 chr21 19411264 19411265 rs536027279 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19411287 19411288 rs142611562 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,G, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19411317 19411318 rs572692268 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19411321 19411322 rs779832085 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411331 19411332 rs867091034 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19411335 19411336 rs867484848 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19411405 19411406 rs34734437 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19411409 19411410 rs539897111 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19411425 19411426 rs369548047 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19411436 19411437 rs570186933 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411437 19411438 rs375785344 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19411440 19411441 rs768741983 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411481 19411482 rs190937219 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19411500 19411501 rs780796442 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411528 19411529 rs573117994 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19411535 19411537 rs754045408 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 733 chr21 19411548 19411549 rs529882240 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19411556 19411557 rs747670793 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411562 19411563 rs538912319 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411590 19411591 rs548356275 0 + G G G/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19411634 19411635 rs560233206 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19411666 19411667 rs74423410 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 49.000000,4959.000000, 0.009784,0.990216, 733 chr21 19411733 19411734 rs552611773 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19411775 19411776 rs559851956 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 SSIP, 0 733 chr21 19411775 19411776 rs570822946 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19411834 19411835 rs184044552 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19411843 19411844 rs550323900 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19411870 19411871 rs763217693 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19411894 19411895 rs157746 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.466204 0.125522 intron exact 1 24 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1853.000000,3155.000000, 0.370008,0.629992, maf-5-some-pop,maf-5-all-pops 733 chr21 19411895 19411896 rs866416321 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19411910 19411911 rs77656806 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.090892 0.192833 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4769.000000,239.000000, 0.952276,0.047724, maf-5-some-pop 733 chr21 19411951 19411952 rs759997688 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19412000 19412001 rs369122702 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19412013 19412014 rs147653134 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 733 chr21 19412034 19412035 rs540086511 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19412040 19412041 rs142249577 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,C, 32.000000,4976.000000, 0.006390,0.993610, 733 chr21 19412135 19412136 rs116609629 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19412200 19412201 rs566068072 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19412227 19412228 rs369855194 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19412247 19412248 rs117506804 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19412256 19412257 rs534679582 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19412292 19412293 rs145800411 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19412306 19412307 rs574471136 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19412336 19412337 rs117859608 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 38.000000,4970.000000, 0.007588,0.992412, 733 chr21 19412396 19412397 rs372411064 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19412418 19412419 rs188796086 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19412421 19412422 rs764208249 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19412478 19412479 rs558703569 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19412488 19412489 rs147761804 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19412629 19412630 rs564348073 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19412643 19412644 rs574748503 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19412644 19412645 rs375675120 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19412651 19412652 rs550191833 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19412671 19412672 rs529718583 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19412700 19412701 rs140203138 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19412732 19412733 rs76500042 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4962.000000,46.000000, 0.990815,0.009185, maf-5-some-pop 733 chr21 19412764 19412765 rs537504271 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19412805 19412806 rs779856175 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19412824 19412825 rs777042542 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19412855 19412856 rs751419854 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19412869 19412870 rs193034136 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19412899 19412900 rs547684543 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19412923 19412924 rs157745 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.480539 0.096703 intron exact 1 33 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2998.000000,2010.000000, 0.598642,0.401358, maf-5-some-pop,maf-5-all-pops 733 chr21 19413025 19413026 rs539767039 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413037 19413038 rs558058497 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413045 19413046 rs570004155 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413066 19413067 rs537494771 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19413098 19413099 rs12626847 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.094137 0.195465 intron exact 1 11 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP, 2 A,G, 4760.000000,248.000000, 0.950479,0.049521, maf-5-some-pop 733 chr21 19413115 19413116 rs747660626 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413119 19413120 rs183096508 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19413128 19413128 rs148245877 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.141934 0.225437 intron between 1 4 1000GENOMES,EVA_DECODE,LUNTER,SSMP, 2 -,A, 4623.000000,385.000000, 0.923123,0.076877, maf-5-some-pop 733 chr21 19413135 19413137 rs386816728 0 + TC TC ATT/TC genomic in-del unknown 0 0 intron rangeInsertion 1 FlankMismatchGenomeLonger 1 TISHKOFF, 0 733 chr21 19413136 19413137 rs1394739 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.477768 0.103061 intron exact 1 MixedObserved 26 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1976.000000,3032.000000, 0.394569,0.605431, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19413136 19413137 rs201149036 0 + C C -/C genomic deletion by-1000genomes 0 0 intron exact 1 MixedObserved 1 1000GENOMES, 0 733 chr21 19413170 19413171 rs553705523 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19413173 19413174 rs187064348 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19413180 19413181 rs546003278 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413215 19413216 rs150313608 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413243 19413244 rs137978449 0 + G G C/G genomic single by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 1 1000GENOMES, 2 C,G, 34.000000,4974.000000, 0.006789,0.993211, 733 chr21 19413251 19413252 rs149204785 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413285 19413286 rs191705047 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19413288 19413289 rs55878423 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 733 chr21 19413314 19413314 rs773602958 0 + - - -/TATGATTT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413346 19413347 rs770523494 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413350 19413351 rs562076322 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19413364 19413365 rs184297634 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19413369 19413370 rs188256394 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19413415 19413416 rs774729736 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413421 19413422 rs566020352 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413439 19413440 rs773983151 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19413450 19413451 rs145097763 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413478 19413479 rs371452855 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19413529 19413530 rs139035207 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19413533 19413534 rs866650553 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19413581 19413582 rs759907810 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413606 19413607 rs772500874 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413618 19413619 rs572339374 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19413629 19413630 rs537306724 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19413666 19413667 rs192326901 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413679 19413680 rs868761544 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19413754 19413755 rs373307102 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 2 1000GENOMES,LUNTER, 2 -,T, 90.000000,4918.000000, 0.017971,0.982029, maf-5-some-pop 733 chr21 19413758 19413759 rs546054353 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19413839 19413840 rs759372087 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19413892 19413893 rs62213039 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 10 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 733 chr21 19413901 19413902 rs535081911 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19413908 19413909 rs553864224 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19413927 19413928 rs760720988 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19413931 19413932 rs142212927 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19413989 19413990 rs546068428 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19413992 19413993 rs557940937 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19413993 19413994 rs197521 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19414014 19414015 rs753893626 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414015 19414016 rs541240095 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19414021 19414022 rs762044031 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414031 19414032 rs370704820 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19414035 19414036 rs768744857 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 733 chr21 19414046 19414047 rs765387781 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414112 19414113 rs113638784 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19414137 19414138 rs557305073 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19414147 19414148 rs542160819 0 + T T A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414157 19414158 rs781265089 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414181 19414182 rs146309200 0 + A A A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19414200 19414201 rs148074378 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19414206 19414207 rs753444387 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19414237 19414238 rs141896136 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19414238 19414239 rs758828668 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19414239 19414240 rs551567780 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19414313 19414314 rs563504777 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19414357 19414358 rs185521390 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19414372 19414373 rs752734192 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414445 19414446 rs780652249 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19414450 19414451 rs549675228 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19414477 19414478 rs567846957 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19414516 19414517 rs535472144 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19414569 19414574 rs201790822 0 + AGTCA AGTCA -/AGTCA genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron range 1 1 1000GENOMES, 2 -,AGTCA, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19414573 19414578 rs377526693 0 + AGGTC AGGTC -/AGGTC genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19414580 19414581 rs547076233 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19414608 19414609 rs190447594 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19414629 19414630 rs181697822 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19414644 19414645 rs539502537 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19414679 19414680 rs185771439 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19414715 19414716 rs561628198 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19414719 19414720 rs157744 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.413748 0.188909 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1464.000000,3544.000000, 0.292332,0.707668, maf-5-some-pop,maf-5-all-pops 733 chr21 19414739 19414740 rs536824205 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19414751 19414752 rs550648182 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414771 19414772 rs189062688 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 20.000000,4988.000000, 0.003994,0.996006, 733 chr21 19414805 19414806 rs748772040 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19414812 19414813 rs371224388 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 733 chr21 19414837 19414838 rs781716982 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19414860 19414861 rs561217496 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 733 chr21 19414918 19414919 rs157743 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.435694 0.167385 intron exact 1 28 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3402.000000,1606.000000, 0.679313,0.320687, maf-5-some-pop 733 chr21 19414939 19414940 rs552384486 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 733 chr21 19415013 19415014 rs150651409 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19415014 19415015 rs770156884 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19415032 19415033 rs772473893 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415057 19415058 rs113556411 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, maf-5-some-pop 733 chr21 19415069 19415069 rs777703853 0 + - - -/AAT genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 733 chr21 19415075 19415076 rs575479480 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19415083 19415084 rs139770331 0 + A A A/G genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 1 1000GENOMES, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 733 chr21 19415107 19415108 rs370519602 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19415153 19415154 rs747473220 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415196 19415197 rs545068820 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19415197 19415198 rs565946556 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19415215 19415216 rs534943321 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19415238 19415239 rs779087026 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19415261 19415262 rs530426251 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19415307 19415308 rs373877160 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19415321 19415322 rs563417594 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19415376 19415377 rs769064001 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415399 19415400 rs115056136 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19415401 19415402 rs544207517 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19415413 19415414 rs776711532 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415458 19415459 rs761799490 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415464 19415465 rs774292746 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19415466 19415467 rs9976734 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.050948 0.151255 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 733 chr21 19415467 19415468 rs759496884 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19415475 19415476 rs17002289 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.090531 0.192535 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4770.000000,238.000000, 0.952476,0.047524, maf-5-some-pop 733 chr21 19415498 19415499 rs12329719 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.119978 0.213528 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4687.000000,321.000000, 0.935903,0.064097, maf-5-some-pop 733 chr21 19415499 19415500 rs547381652 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19415524 19415525 rs77051674 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19415526 19415527 rs767464198 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415535 19415536 rs752574572 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415541 19415542 rs756031835 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415544 19415545 rs539561518 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19415556 19415557 rs529681423 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19415586 19415587 rs551528607 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19415609 19415610 rs74916640 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19415620 19415621 rs537293431 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19415651 19415652 rs158041 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.303187 0.244277 intron exact 1 21 1000GENOMES,AFFY,BGI,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 4075.000000,933.000000, 0.813698,0.186302, maf-5-some-pop 733 chr21 19415697 19415698 rs73325238 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.119281 0.213102 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 319.000000,4689.000000, 0.063698,0.936302, maf-5-some-pop 733 chr21 19415703 19415704 rs534579950 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19415720 19415721 rs568437386 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19415764 19415765 rs181157807 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19415772 19415773 rs150211 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.294832 0.245947 intron exact 1 25 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4108.000000,900.000000, 0.820288,0.179712, maf-5-some-pop 733 chr21 19415810 19415811 rs544983856 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19415833 19415834 rs745558889 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415836 19415837 rs557072553 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19415864 19415865 rs575643718 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19415891 19415892 rs758076692 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19415894 19415895 rs185664723 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19415901 19415902 rs147187853 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19415902 19415903 rs760306251 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19415915 19415916 rs528799787 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19415927 19415928 rs540545413 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19415934 19415935 rs551965126 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19415953 19415954 rs565369670 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19415977 19415978 rs565556565 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19415987 19415988 rs577294437 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19416004 19416005 rs539961298 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19416005 19416006 rs866399279 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19416039 19416040 rs780346079 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416081 19416082 rs532992643 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19416101 19416102 rs60730750 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 733 chr21 19416107 19416108 rs553169336 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19416110 19416111 rs551388039 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19416118 19416119 rs569769967 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416131 19416132 rs73325243 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 733 chr21 19416151 19416152 rs144470247 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19416152 19416153 rs747345244 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416157 19416158 rs147774738 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19416158 19416159 rs769137351 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416159 19416160 rs112807015 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416208 19416209 rs552880158 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19416221 19416222 rs375971151 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19416229 19416230 rs573084431 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19416240 19416241 rs777068474 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416261 19416262 rs148835322 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19416271 19416272 rs542099532 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19416306 19416307 rs116388922 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19416309 19416310 rs56093006 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 733 chr21 19416310 19416311 rs115975734 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19416320 19416321 rs542724205 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19416323 19416324 rs769817361 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416339 19416340 rs372223815 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19416372 19416373 rs573385933 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416385 19416386 rs773539290 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416411 19416412 rs763229281 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416416 19416417 rs540814271 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416462 19416463 rs56077115 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, maf-5-some-pop 733 chr21 19416476 19416477 rs760391737 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416505 19416506 rs866213822 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19416507 19416508 rs532853662 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416572 19416573 rs190857069 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416576 19416577 rs866732358 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19416590 19416591 rs563102445 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19416605 19416606 rs182620862 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416627 19416628 rs548832849 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416632 19416633 rs868639426 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19416636 19416637 rs115716149 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19416659 19416660 rs753768435 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416663 19416664 rs764677575 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19416665 19416666 rs752076183 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 733 chr21 19416665 19416666 rs755550907 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 733 chr21 19416670 19416671 rs73325246 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK, 2 A,G, 4975.000000,33.000000, 0.993411,0.006589, 733 chr21 19416695 19416696 rs140769564 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19416698 19416702 rs548132834 0 + TAAA TAAA -/TAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TAAA, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19416709 19416710 rs187252224 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416724 19416725 rs764686319 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416725 19416726 rs543904740 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416727 19416728 rs571208784 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416739 19416740 rs17696665 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 intron exact 1 11 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 733 chr21 19416743 19416744 rs76433334 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,GMI, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19416756 19416756 rs200299346 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron between 1 2 1000GENOMES,EVA-GONL, 2 -,T, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 733 chr21 19416768 19416769 rs569132189 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416800 19416801 rs779683254 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416807 19416808 rs79599206 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.056607 0.158427 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 146.000000,4862.000000, 0.029153,0.970847, maf-5-some-pop 733 chr21 19416816 19416817 rs781644065 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19416823 19416824 rs755351277 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19416824 19416825 rs554800180 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19416922 19416923 rs192035794 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19416967 19416968 rs183504918 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19416986 19416987 rs114640110 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19416993 19416994 rs373123466 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19417007 19417008 rs145117231 0 + A A A/G genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 733 chr21 19417033 19417034 rs539946561 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19417067 19417068 rs781711957 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19417107 19417108 rs157742 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.085456 0.188216 intron exact 1 21 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 224.000000,4784.000000, 0.044728,0.955272, maf-5-some-pop 733 chr21 19417151 19417152 rs138940333 0 + T T A/T genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 A,T, 29.000000,4979.000000, 0.005791,0.994209, 733 chr21 19417213 19417214 rs187470097 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19417226 19417227 rs192321123 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19417265 19417266 rs548461939 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19417272 19417273 rs560864388 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19417273 19417274 rs73196655 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 733 chr21 19417275 19417276 rs369471556 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19417314 19417315 rs749490417 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19417330 19417331 rs140718577 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19417341 19417342 rs145857078 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19417355 19417356 rs9982038 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 8 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4846.000000,162.000000, 0.967652,0.032348, maf-5-some-pop 733 chr21 19417376 19417377 rs550671910 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19417386 19417387 rs569117660 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19417442 19417443 rs138321868 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19417465 19417466 rs548561463 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19417467 19417468 rs182498860 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19417485 19417486 rs188014175 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19417496 19417497 rs559216648 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19417545 19417546 rs745747005 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19417566 19417567 rs61053524 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 733 chr21 19417591 19417592 rs570840609 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19417670 19417671 rs192585783 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19417693 19417694 rs117672463 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.046395 0.145069 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4889.000000,119.000000, 0.976238,0.023762, maf-5-some-pop 733 chr21 19417700 19417701 rs543411301 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19417711 19417712 rs149335 0 - G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.100588 0.200439 intron exact 1 13 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KWOK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4742.000000,266.000000, 0.946885,0.053115, maf-5-some-pop 733 chr21 19417780 19417781 rs542257993 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19417805 19417806 rs144221106 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19417850 19417850 rs201494664 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron between 1 2 1000GENOMES,TISHKOFF, 2 -,T, 4957.000000,51.000000, 0.989816,0.010184, 733 chr21 19417871 19417872 rs558694373 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19417878 19417879 rs572620159 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19417882 19417883 rs575395245 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19417897 19417898 rs760504492 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19417930 19417931 rs184434831 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19417971 19417972 rs371049449 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19417998 19417999 rs564618693 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418010 19418011 rs189555842 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418014 19418015 rs148333126 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 71.000000,4937.000000, 0.014177,0.985823, 733 chr21 19418028 19418029 rs749865129 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418050 19418051 rs762514192 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418059 19418060 rs562687230 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19418062 19418063 rs529954816 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19418079 19418080 rs143071531 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418083 19418084 rs79640224 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 733 chr21 19418117 19418118 rs555621995 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19418147 19418148 rs751215228 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418165 19418166 rs552738152 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418177 19418178 rs570945065 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19418236 19418237 rs538485151 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19418273 19418274 rs71319668 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19418312 19418313 rs556668675 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418388 19418389 rs772867380 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19418403 19418404 rs568668170 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19418434 19418435 rs536113608 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19418438 19418440 rs774684094 0 + GT GT -/GT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418473 19418474 rs781374213 0 + C C A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418474 19418475 rs753131646 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418484 19418485 rs554291951 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418497 19418498 rs192423767 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418510 19418511 rs539829598 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418520 19418521 rs147197823 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA-GONL,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19418559 19418560 rs17002292 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,PERLEGEN, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19418568 19418569 rs544079773 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19418598 19418599 rs370070023 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19418603 19418604 rs778431349 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418604 19418605 rs529964691 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418622 19418623 rs768208793 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19418631 19418632 rs17002293 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.071522 0.175059 intron exact 1 15 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 186.000000,4822.000000, 0.037141,0.962859, maf-5-some-pop 733 chr21 19418690 19418691 rs771194896 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418700 19418701 rs17002294 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,PERLEGEN, 2 C,G, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19418725 19418726 rs527727506 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418751 19418752 rs71319669 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 11 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19418752 19418753 rs144401906 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19418754 19418755 rs563742872 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19418785 19418786 rs150811238 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418848 19418849 rs568612783 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19418861 19418862 rs535653533 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19418868 19418869 rs577219373 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19418893 19418894 rs184839486 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19418936 19418937 rs539934377 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19418947 19418948 rs772359650 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19418951 19418952 rs533590146 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19419034 19419035 rs188918568 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19419067 19419068 rs776229643 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419083 19419084 rs761598009 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419102 19419103 rs767694976 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419142 19419143 rs139189441 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 733 chr21 19419161 19419162 rs114371105 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,EVA_DECODE,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 733 chr21 19419241 19419242 rs73891131 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,ILLUMINA-UK,JMKIDD_LAB, 2 C,T, 4958.000000,50.000000, 0.990016,0.009984, 733 chr21 19419242 19419243 rs9982685 0 + G G A/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.061482 0.164198 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 11 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 733 chr21 19419249 19419250 rs559853750 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19419303 19419304 rs528644851 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419361 19419362 rs541649345 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19419372 19419373 rs545628989 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19419393 19419394 rs542085417 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419403 19419404 rs560476533 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19419406 19419407 rs527533030 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19419438 19419439 rs374122064 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA_DECODE,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19419465 19419466 rs149781 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.401747 0.198678 intron exact 1 32 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3614.000000,1394.000000, 0.721645,0.278355, maf-5-some-pop,maf-5-all-pops 733 chr21 19419469 19419469 rs752925229 0 + - - -/ATGG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419470 19419471 rs746942589 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19419534 19419535 rs157741 0 - A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.281313 0.248031 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 848.000000,4160.000000, 0.169329,0.830671, maf-5-some-pop 733 chr21 19419557 19419558 rs551266183 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 733 chr21 19419598 19419599 rs149887640 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19419637 19419638 rs144875146 0 + T T C/T genomic single by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 1 1000GENOMES, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19419657 19419658 rs529534501 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19419722 19419723 rs767215472 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419783 19419784 rs570812728 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419808 19419809 rs547581946 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19419877 19419878 rs76848198 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 733 chr21 19419889 19419890 rs374133095 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19419914 19419915 rs539705639 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19419916 19419916 rs764178870 0 + - - -/CTCCC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419930 19419931 rs764685343 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19419963 19419963 rs34233456 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19419981 19419982 rs368322426 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19419992 19419993 rs570454253 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19420008 19420009 rs866655200 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19420009 19420010 rs537426831 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19420028 19420029 rs556263915 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420105 19420106 rs757868911 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420109 19420110 rs375382313 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19420113 19420114 rs778751000 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 DDI, 0 733 chr21 19420130 19420131 rs140929619 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,WARNICH_LAB, 2 C,G, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19420144 19420145 rs553966797 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420148 19420149 rs572383486 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19420162 19420163 rs868626598 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19420180 19420181 rs181566295 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19420181 19420182 rs368732022 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19420183 19420184 rs576418341 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19420208 19420209 rs567007482 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19420211 19420212 rs543443844 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19420234 19420235 rs17002295 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,PERLEGEN, 2 C,G, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19420242 19420246 rs762598478 0 + TAAC TAAC -/TAAC genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420265 19420266 rs529326216 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19420292 19420293 rs547596433 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19420312 19420313 rs17002296 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,PERLEGEN, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19420319 19420320 rs530082579 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19420334 19420335 rs551689905 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420339 19420340 rs183843547 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19420343 19420343 rs547396616 0 + - - -/TC genomic insertion by-frequency,by-1000genomes 0.002393 0.03451 intron between 1 1 1000GENOMES, 2 -,TC, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19420349 19420350 rs778808697 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420354 19420355 rs535625584 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420357 19420358 rs9974672 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050948 0.151255 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 733 chr21 19420364 19420365 rs549465262 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420391 19420392 rs780386643 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420438 19420439 rs189656526 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420499 19420501 rs569052129 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 733 chr21 19420520 19420521 rs180790829 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 733 chr21 19420522 19420523 rs185868269 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19420562 19420563 rs773098674 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420571 19420572 rs146850003 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 733 chr21 19420597 19420598 rs770926645 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420614 19420615 rs191167614 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19420632 19420633 rs558073858 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420718 19420719 rs539120138 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19420725 19420726 rs77384127 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4961.000000,47.000000, 0.990615,0.009385, 733 chr21 19420746 19420747 rs77752532 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05397 0.155153 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 139.000000,4869.000000, 0.027756,0.972244, maf-5-some-pop 733 chr21 19420770 19420771 rs561896505 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19420785 19420786 rs759092469 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19420795 19420796 rs367779287 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19420814 19420815 rs541100045 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420840 19420841 rs181901833 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19420853 19420854 rs1133810 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.123105 0.215401 intron exact 1 20 1000GENOMES,ABI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,LEE,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,G, 330.000000,4678.000000, 0.065895,0.934105, maf-5-some-pop 733 chr21 19420915 19420916 rs186592532 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420916 19420917 rs564009849 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420934 19420935 rs531071340 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19420966 19420967 rs549764447 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19420980 19420981 rs2824614 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.036066 0.129354 intron exact 1 5 1000GENOMES,HAMMER_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 92.000000,4916.000000, 0.018371,0.981629, maf-5-some-pop 733 chr21 19420982 19420983 rs528872017 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19420983 19420984 rs190473673 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19421003 19421004 rs9978670 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.064842 0.167978 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 168.000000,4840.000000, 0.033546,0.966454, maf-5-some-pop 733 chr21 19421043 19421045 rs113855262 0 + AT AT -/AT genomic deletion unknown 0.5 0 intron range 1 1 BUSHMAN, 2 -,AT, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19421046 19421047 rs183084866 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19421068 19421069 rs539691312 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19421069 19421070 rs527503922 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 SSIP, 0 733 chr21 19421069 19421070 rs557621082 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19421080 19421081 rs145792863 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 733 chr21 19421090 19421091 rs536915485 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19421111 19421112 rs112088904 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19421125 19421126 rs764461146 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19421137 19421138 rs111806589 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19421167 19421168 rs757495121 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19421175 19421176 rs117153660 0 + C C C/G genomic single by-1000genomes 0.016528 0.089391 intron exact 1 1 1000GENOMES, 2 C,G, 119.000000,1.000000, 0.991667,0.008333, 733 chr21 19421178 19421179 rs573368518 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19421195 19421196 rs73196658 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 733 chr21 19421233 19421234 rs188148502 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19421240 19421240 rs200208617 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19421246 19421247 rs553094845 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19421247 19421248 rs209277 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.433963 0.169285 intron exact 1 MixedObserved 21 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 1594.000000,3414.000000, 0.318291,0.681709, maf-5-some-pop,maf-5-all-pops 733 chr21 19421247 19421249 rs796476291 0 + AA AA AA/TT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 733 chr21 19421248 19421249 rs285953 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.273049 0.248935 intron exact 1 12 1000GENOMES,BCM_SSAHASNP,BUSHMAN,DDI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,WEILL_CORNELL_DGM, 2 A,T, 817.000000,4191.000000, 0.163139,0.836861, maf-5-some-pop 733 chr21 19421314 19421315 rs373206762 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19421331 19421332 rs563696303 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19421438 19421440 rs780058002 0 + AC AC -/AC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19421489 19421490 rs531256567 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19421502 19421503 rs370778242 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19421531 19421532 rs768671757 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 733 chr21 19421532 19421533 rs150196809 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 733 chr21 19421562 19421563 rs561612804 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19421571 19421572 rs528938892 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19421575 19421576 rs547414630 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19421592 19421593 rs750482101 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19421607 19421608 rs765777014 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19421614 19421615 rs565783456 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19421629 19421630 rs138691781 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19421645 19421646 rs551570534 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19421683 19421684 rs143121761 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19421723 19421724 rs28393013 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,WEILL_CORNELL_DGM, 2 C,G, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 733 chr21 19421750 19421751 rs555413144 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19421752 19421753 rs567218098 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19421753 19421754 rs780112997 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19421859 19421860 rs209278 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.350982 0.228698 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3871.000000,1137.000000, 0.772963,0.227037, maf-5-some-pop 733 chr21 19421941 19421942 rs552906388 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19422032 19422033 rs577731283 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422036 19422037 rs545143379 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422037 19422042 rs544568164 0 + TCTTA TCTTA -/TCTTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TCTTA, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19422042 19422043 rs564815942 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19422056 19422057 rs28652777 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 90.000000,4918.000000, 0.017971,0.982029, maf-5-some-pop 733 chr21 19422066 19422067 rs575781914 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422068 19422069 rs777498945 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19422112 19422113 rs183395422 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 733 chr21 19422113 19422114 rs114185671 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4959.000000,49.000000, 0.990216,0.009784, 733 chr21 19422130 19422131 rs573531920 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19422133 19422134 rs187560181 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19422135 19422136 rs559360859 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422146 19422147 rs370263108 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19422162 19422163 rs533083576 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19422228 19422229 rs191460388 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19422229 19422230 rs774415385 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19422265 19422266 rs745359339 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19422281 19422282 rs376943029 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19422313 19422314 rs775253854 0 + T T C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19422349 19422350 rs142822290 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422356 19422357 rs144540376 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19422374 19422375 rs549112857 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422408 19422409 rs567230416 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19422465 19422466 rs534567897 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19422468 19422469 rs369447602 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19422470 19422471 rs571335012 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19422501 19422502 rs539005963 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19422540 19422541 rs557216655 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19422584 19422585 rs184535319 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19422588 19422589 rs187802626 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19422596 19422597 rs35326558 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.488666 0.074421 intron exact 1 MixedObserved 14 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 2881.000000,2127.000000, 0.575280,0.424720, maf-5-some-pop,maf-5-all-pops 733 chr21 19422596 19422597 rs201632994 0 - G G C/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 1 ILLUMINA, 0 733 chr21 19422599 19422600 rs398081477 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 BGI, 0 733 chr21 19422600 19422601 rs397791688 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 733 chr21 19422636 19422637 rs760354272 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19422638 19422639 rs118108755 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19422659 19422660 rs148485996 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.004782 0.04869 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 10.000000,2.000000,4996.000000, 0.001997,0.000399,0.997604, 733 chr21 19422685 19422686 rs191953667 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422702 19422703 rs577602259 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19422715 19422716 rs772947841 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19422726 19422727 rs765646504 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19422727 19422728 rs17002299 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.060734 0.163335 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 733 chr21 19422795 19422796 rs563238762 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19422796 19422797 rs200054819 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19422826 19422827 rs530583762 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19422842 19422843 rs371053902 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19422846 19422847 rs141773044 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19422852 19422853 rs562448926 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19422856 19422857 rs748976991 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19422864 19422865 rs3097170 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.210301 0.246828 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4410.000000,598.000000, 0.880591,0.119409, maf-5-some-pop 733 chr21 19422883 19422884 rs549468639 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19422938 19422939 rs532499243 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 733 chr21 19422939 19422940 rs2824615 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.219049 0.248077 intron exact 1 23 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4381.000000,627.000000, 0.874800,0.125200, maf-5-some-pop,genotype-conflict 733 chr21 19422940 19422941 rs150510676 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19422950 19422951 rs781400253 0 + A A A/C/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19423013 19423014 rs538705838 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19423014 19423015 rs550907300 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19423032 19423033 rs551366030 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19423033 19423034 rs7277992 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,C, 4988.000000,20.000000, 0.996006,0.003994, 733 chr21 19423059 19423060 rs185267369 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19423068 19423069 rs190349201 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19423096 19423097 rs769109378 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19423144 19423145 rs2824616 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497091 0.038028 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2313.000000,2695.000000, 0.461861,0.538139, maf-5-some-pop 733 chr21 19423152 19423153 rs373517135 0 + A A A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19423244 19423244 rs71189578 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.499693 0.012376 intron between 1 11 1000GENOMES,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP, 2 -,T, 2566.000000,2442.000000, 0.512380,0.487620, maf-5-some-pop,maf-5-all-pops 733 chr21 19423254 19423254 rs202104617 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron between 1 2 1000GENOMES,EVA-GONL, 2 -,A, 4982.000000,26.000000, 0.994808,0.005192, 733 chr21 19423256 19423256 rs398121472 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 GMI, 0 733 chr21 19423260 19423266 rs536036446 0 + TTATAC TTATAC -/TTATAC genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 1 1000GENOMES, 2 -,TTATAC, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19423293 19423294 rs573305297 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19423294 19423295 rs746520025 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19423300 19423301 rs143153470 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.071892 0.175435 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 187.000000,4821.000000, 0.037340,0.962660, maf-5-some-pop 733 chr21 19423342 19423343 rs181224254 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19423343 19423344 rs185050029 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 733 chr21 19423353 19423354 rs556879006 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19423355 19423356 rs768417411 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19423392 19423393 rs189164881 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19423405 19423406 rs542340807 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19423419 19423420 rs868343232 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19423480 19423481 rs552670884 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19423492 19423493 rs376036220 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19423497 19423498 rs528310059 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19423566 19423567 rs762059006 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19423569 19423570 rs535926186 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19423570 19423571 rs1838711 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.498437 0.027912 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2644.000000,2364.000000, 0.527955,0.472045, maf-5-some-pop,maf-5-all-pops 733 chr21 19423576 19423577 rs532395973 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19423645 19423646 rs139176408 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19423682 19423683 rs575745592 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19423721 19423722 rs555572070 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.247905 0.249991 intron exact 1 DuplicateObserved 2 1000GENOMES,HAMMER_LAB, 2 -,T, 726.000000,4282.000000, 0.144968,0.855032, maf-5-some-pop,maf-5-all-pops 733 chr21 19423721 19423721 rs796997664 0 + - - -/T genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 HAMMER_LAB, 0 733 chr21 19423735 19423736 rs115032872 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,BL,GMI,ILLUMINA,WEILL_CORNELL_DGM, 0 733 chr21 19423736 19423737 rs763471874 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19423743 19423744 rs569208122 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19423744 19423745 rs370340951 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19423807 19423808 rs113846277 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19423876 19423877 rs766889401 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19423972 19423973 rs530023957 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19423975 19423976 rs548735516 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19423999 19424000 rs751574325 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424001 19424002 rs180906658 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19424047 19424048 rs73325259 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK, 2 G,T, 4954.000000,54.000000, 0.989217,0.010783, 733 chr21 19424054 19424055 rs145306815 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424065 19424066 rs571071082 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19424106 19424107 rs538500498 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19424123 19424124 rs767715081 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424176 19424176 rs772767928 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424183 19424184 rs753013154 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424252 19424253 rs149223774 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19424275 19424276 rs75036971 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4886.000000,122.000000, 0.975639,0.024361, maf-5-some-pop 733 chr21 19424299 19424300 rs750197973 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424300 19424301 rs79651621 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,C, 4970.000000,38.000000, 0.992412,0.007588, 733 chr21 19424333 19424334 rs554290265 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424343 19424344 rs578240856 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19424360 19424361 rs572557982 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424361 19424362 rs151324261 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19424377 19424378 rs565056683 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424383 19424384 rs375495485 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,TISHKOFF, 0 733 chr21 19424396 19424397 rs532327049 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424399 19424400 rs544525631 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19424430 19424431 rs157734 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498927 0.023138 intron exact 1 34 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2388.000000,2620.000000, 0.476837,0.523163, maf-5-some-pop,maf-5-all-pops 733 chr21 19424438 19424439 rs2824617 0 + A A A/G genomic single by-cluster,by-submitter 0.014598 0.084177 intron exact 1 1 PERLEGEN, 2 A,G, 135.000000,1.000000, 0.992647,0.007353, maf-5-some-pop 733 chr21 19424468 19424469 rs530159363 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19424480 19424481 rs548601441 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19424488 19424489 rs746503599 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424515 19424516 rs186320948 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19424523 19424524 rs527749645 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424529 19424530 rs768327254 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424530 19424531 rs780957519 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424556 19424557 rs77266507 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 -,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 733 chr21 19424586 19424587 rs157735 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.300926 0.244758 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 924.000000,4084.000000, 0.184505,0.815495, maf-5-some-pop 733 chr21 19424612 19424613 rs571050567 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424623 19424624 rs769350515 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424633 19424634 rs141594911 0 + T T G/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 G,T, 26.000000,4982.000000, 0.005192,0.994808, 733 chr21 19424663 19424664 rs147031265 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19424702 19424703 rs563029884 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19424703 19424704 rs565866666 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424705 19424706 rs771428403 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424731 19424732 rs191116446 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19424737 19424738 rs554104462 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424756 19424757 rs774897009 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424775 19424776 rs572619796 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424788 19424789 rs370755032 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19424796 19424797 rs533614878 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19424809 19424810 rs115972397 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4959.000000,49.000000, 0.990216,0.009784, 733 chr21 19424826 19424827 rs767627079 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19424827 19424828 rs577004500 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19424839 19424840 rs138427884 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19424886 19424887 rs143895846 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19424898 19424898 rs60684701 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,A, 4907.000000,101.000000, 0.979832,0.020168, maf-5-some-pop 733 chr21 19424899 19424899 rs397969462 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 733 chr21 19424924 19424925 rs182007576 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424950 19424951 rs2260211 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.155656 0.231515 intron exact 1 18 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 426.000000,4582.000000, 0.085064,0.914936, maf-5-some-pop 733 chr21 19424968 19424969 rs560482634 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19424984 19424985 rs750228259 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425007 19425008 rs527662091 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19425008 19425009 rs186677550 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19425050 19425051 rs758326452 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425053 19425054 rs528263948 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19425085 19425086 rs564415092 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19425087 19425088 rs531978375 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19425101 19425102 rs157736 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.301681 0.2446 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 927.000000,4081.000000, 0.185104,0.814896, maf-5-some-pop 733 chr21 19425120 19425121 rs568424288 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19425136 19425137 rs751583867 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425183 19425184 rs535716998 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19425196 19425197 rs157737 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.010329 0.07112 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,KWOK,SC_JCM,WEILL_CORNELL_DGM, 2 C,G, 26.000000,4982.000000, 0.005192,0.994808, 733 chr21 19425198 19425199 rs780701284 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425201 19425201 rs57836951 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.301429 0.244653 intron between 1 8 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,G, 4082.000000,926.000000, 0.815096,0.184904, maf-5-some-pop 733 chr21 19425205 19425206 rs494619 0 - T T A/C/G/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.301681 0.2446 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 9 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA_DECODE,HGSV,ILLUMINA,PERLEGEN,SC_JCM,WEILL_CORNELL_DGM, 2 A,C, 4081.000000,927.000000, 0.814896,0.185104, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 733 chr21 19425205 19425206 rs374070950 0 + T T GG/T genomic in-del by-cluster,by-frequency,by-hapmap 0.378356 0.214534 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,InconsistentAlleles 3 ABI,ILLUMINA,TISHKOFF, 2 G,T, 75.000000,221.000000, 0.253378,0.746622, maf-5-some-pop,maf-5-all-pops 733 chr21 19425205 19425206 rs796256176 0 + T T -/T genomic deletion by-1000genomes 0 0 intron exact 1 MixedObserved 1 1000GENOMES, 0 733 chr21 19425205 19425205 rs397939732 0 + - - -/G genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 733 chr21 19425206 19425207 rs533541601 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19425206 19425206 rs201039820 0 + - - -/G genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425219 19425220 rs747627482 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425301 19425302 rs865885851 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19425315 19425316 rs755728522 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425323 19425324 rs112495900 0 + C C A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19425332 19425333 rs2824618 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.31721 0.240796 intron exact 1 22 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4018.000000,990.000000, 0.802316,0.197684, maf-5-some-pop 733 chr21 19425392 19425393 rs73325267 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK, 2 C,G, 4954.000000,54.000000, 0.989217,0.010783, 733 chr21 19425407 19425408 rs749654538 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425421 19425422 rs771334632 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425423 19425424 rs774808914 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425435 19425436 rs199587781 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19425477 19425478 rs73325269 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,JMKIDD_LAB,TISHKOFF, 2 A,G, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 733 chr21 19425479 19425480 rs746336755 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425523 19425523 rs35556667 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19425593 19425594 rs772590823 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425596 19425597 rs188268606 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19425607 19425608 rs374758796 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19425625 19425626 rs769182412 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19425628 19425629 rs189562833 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19425639 19425640 rs560461248 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19425683 19425684 rs572512687 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19425699 19425700 rs182261364 0 + T T G/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19425774 19425775 rs367673941 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19425819 19425820 rs73196662 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 733 chr21 19425821 19425822 rs567142313 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19425822 19425823 rs78733140 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 45.000000,4963.000000, 0.008986,0.991014, 733 chr21 19425841 19425842 rs555963620 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425844 19425845 rs776765668 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425856 19425857 rs150355807 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19425883 19425884 rs762801153 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425919 19425920 rs762340599 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19425922 19425923 rs561918146 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19425943 19425944 rs4511804 0 + C C A/C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.051326 0.151752 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 13 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF, 2 C,T, 4876.000000,132.000000, 0.973642,0.026358, maf-5-some-pop 733 chr21 19425953 19425954 rs754902716 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19425959 19425960 rs867787960 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19426023 19426024 rs116130919 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 45.000000,4963.000000, 0.008986,0.991014, 733 chr21 19426031 19426032 rs773581345 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19426038 19426039 rs548405618 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19426101 19426102 rs376718833 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19426117 19426118 rs566026872 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19426119 19426120 rs2824619 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.385168 0.210309 intron exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1304.000000,3704.000000, 0.260383,0.739617, maf-5-some-pop 733 chr21 19426149 19426150 rs138010462 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19426225 19426227 rs777311714 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 733 chr21 19426255 19426257 rs71998171 0 + TA TA -/TA genomic deletion by-cluster,by-frequency,by-1000genomes 0.33533 0.234987 intron range 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,TA, 1067.000000,3941.000000, 0.213059,0.786941, maf-5-some-pop 733 chr21 19426256 19426257 rs570539880 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19426262 19426263 rs369972447 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,GMI, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19426263 19426265 rs200318835 0 + TC TC -/TC genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 733 chr21 19426263 19426264 rs372171802 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19426276 19426278 rs764136422 0 + CA CA -/CA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19426308 19426309 rs556269436 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19426313 19426314 rs187646950 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19426383 19426384 rs192419750 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19426412 19426413 rs868029251 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19426435 19426436 rs185823987 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19426482 19426483 rs149539245 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19426520 19426521 rs188344434 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19426529 19426530 rs9983737 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.386884 0.209196 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3695.000000,1313.000000, 0.737819,0.262181, maf-5-some-pop 733 chr21 19426572 19426573 rs79804188 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 5 1000GENOMES,GMI,JMKIDD_LAB,SSMP,TISHKOFF, 2 A,G, 129.000000,4879.000000, 0.025759,0.974241, maf-5-some-pop 733 chr21 19426641 19426642 rs554554953 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19426646 19426647 rs796579924 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19426649 19426649 rs573932049 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 733 chr21 19426657 19426658 rs561831792 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19426677 19426678 rs529487989 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19426746 19426747 rs144185414 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19426747 19426748 rs28543996 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.068931 0.172377 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4829.000000,179.000000, 0.964257,0.035743, maf-5-some-pop 733 chr21 19426799 19426800 rs533421882 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19426810 19426811 rs139970396 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19426854 19426855 rs748759284 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19426896 19426897 rs540887587 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19426977 19426978 rs779200980 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19426997 19426998 rs117200752 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19427010 19427011 rs531805151 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19427022 19427023 rs80289836 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 733 chr21 19427025 19427026 rs780483905 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19427084 19427085 rs747089077 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19427089 19427090 rs768655273 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19427177 19427178 rs373896758 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19427183 19427184 rs867431710 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19427191 19427192 rs564697079 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19427194 19427195 rs568157765 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427197 19427198 rs377050589 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19427201 19427202 rs535647249 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19427212 19427213 rs193202203 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19427233 19427234 rs565980387 0 + G G C/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 C,G, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19427254 19427255 rs527523240 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19427265 19427266 rs184567903 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427282 19427283 rs558012411 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,DDI, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19427368 19427369 rs866474610 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19427414 19427415 rs141560729 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427421 19427422 rs543405428 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19427439 19427440 rs146177452 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19427451 19427452 rs567578727 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19427487 19427488 rs150056 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.030278 0.119257 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 77.000000,4931.000000, 0.015375,0.984625, 733 chr21 19427507 19427508 rs777694459 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19427540 19427541 rs372522846 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19427558 19427559 rs139212775 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19427571 19427572 rs559490220 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19427600 19427601 rs767481033 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19427625 19427626 rs533544893 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427626 19427627 rs150057 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.015847 0.087592 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 733 chr21 19427671 19427672 rs142547729 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427673 19427674 rs151090129 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 733 chr21 19427688 19427689 rs549749596 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19427706 19427707 rs531668932 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19427762 19427763 rs568170265 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427783 19427784 rs528962229 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19427804 19427805 rs79138132 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.093417 0.194889 intron exact 1 13 1000GENOMES,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4762.000000,246.000000, 0.950879,0.049121, maf-5-some-pop 733 chr21 19427821 19427822 rs188731238 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19427864 19427865 rs539604960 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19427878 19427879 rs568318920 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427888 19427889 rs867838493 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19427937 19427938 rs569931993 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19427941 19427942 rs537052703 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19427942 19427942 rs753944783 0 + - - -/TAAA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19427980 19427981 rs555304983 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19427994 19427994 rs766393113 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19428057 19428058 rs17002300 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.104149 0.203046 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4732.000000,276.000000, 0.944888,0.055112, maf-5-some-pop 733 chr21 19428058 19428059 rs778601785 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19428065 19428066 rs79052197 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19428070 19428071 rs537389855 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PADH-LAB_SPU,SSIP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19428084 19428085 rs745555745 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19428110 19428111 rs578138793 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428111 19428112 rs545579136 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19428132 19428133 rs2824620 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.354665 0.227036 intron exact 1 21 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 3854.000000,1154.000000, 0.769569,0.230431, maf-5-some-pop 733 chr21 19428139 19428140 rs575853353 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428141 19428142 rs149824669 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19428149 19428150 rs113535857 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19428169 19428170 rs528874100 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19428179 19428180 rs368668857 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19428218 19428219 rs547643775 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19428237 19428238 rs769225047 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19428239 19428240 rs147965195 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428242 19428248 rs751505981 0 + TCTCTT TCTCTT -/TCTCTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19428244 19428248 rs201494977 0 + TCTT TCTT -/TCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron range 1 1 1000GENOMES, 2 -,TCTT, 42.000000,4966.000000, 0.008387,0.991613, 733 chr21 19428247 19428251 rs368221876 0 + TTCT TTCT -/TTCT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19428267 19428268 rs9984185 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.21875 0.248039 intron exact 1 20 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4382.000000,626.000000, 0.875000,0.125000, maf-5-some-pop 733 chr21 19428380 19428381 rs141844852 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19428382 19428383 rs169609 0 + G G A/G genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 2 KWOK,SC_JCM, 1 G, 424.000000, 1.000000, 733 chr21 19428413 19428414 rs748240832 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19428442 19428443 rs775654749 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19428459 19428460 rs551509309 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19428480 19428481 rs79898445 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, 733 chr21 19428529 19428530 rs149510 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.491157 0.065903 intron exact 1 31 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2171.000000,2837.000000, 0.433506,0.566494, maf-5-some-pop,maf-5-all-pops 733 chr21 19428540 19428541 rs2824621 0 + G G A/G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.339203 0.233544 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 17 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,WEILL_CORNELL_DGM, 2 A,G, 1084.000000,3924.000000, 0.216454,0.783546, maf-5-some-pop 733 chr21 19428581 19428582 rs567353650 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19428595 19428596 rs183694046 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19428639 19428640 rs771166064 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19428666 19428667 rs553236120 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428683 19428687 rs149455922 0 + AAAG AAAG -/AAAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 intron range 1 2 1000GENOMES,LUNTER, 2 -,AAAG, 243.000000,4765.000000, 0.048522,0.951478, maf-5-some-pop 733 chr21 19428722 19428723 rs188407248 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428739 19428740 rs367800607 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428761 19428762 rs557495300 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428774 19428775 rs576028009 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19428794 19428795 rs541992626 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.122295 0.214922 intron exact 1 1 1000GENOMES, 2 -,T, 236.000000,3371.000000, 0.065428,0.934572, maf-5-some-pop 733 chr21 19428794 19428794 rs34378503 0 + - - -/T genomic insertion by-cluster 0.5 0 intron between 1 6 ABI,BILGI_BIOE,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,PJP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19428795 19428795 rs561893776 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.414788 0.188003 intron between 1 1 1000GENOMES, 2 -,T, 3371.000000,1401.000000, 0.706412,0.293588, maf-5-some-pop 733 chr21 19428807 19428808 rs201663071 0 - G G A/C genomic single by-cluster 0 0 intron exact 1 MixedObserved 1 ILLUMINA, 0 733 chr21 19428807 19428807 rs397722720 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 733 chr21 19428825 19428826 rs569680343 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19428834 19428835 rs2824622 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.378174 0.214642 intron exact 1 22 1000GENOMES,AFFY,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1268.000000,3740.000000, 0.253195,0.746805, maf-5-some-pop 733 chr21 19428837 19428838 rs867263293 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19428853 19428854 rs182059706 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19428862 19428863 rs112323083 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 28.000000,4980.000000, 0.005591,0.994409, 733 chr21 19428963 19428964 rs541019256 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19428975 19428976 rs559187981 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19429038 19429039 rs147660145 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19429045 19429046 rs551304822 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19429059 19429060 rs187663059 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19429063 19429064 rs530600980 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19429066 19429067 rs576368816 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429118 19429119 rs867106371 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19429143 19429144 rs375394640 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19429212 19429213 rs189800183 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19429230 19429231 rs528468110 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19429268 19429269 rs182016661 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19429300 19429301 rs761369019 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429317 19429318 rs764846680 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429328 19429329 rs149165961 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19429373 19429374 rs539093967 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19429378 19429379 rs866537823 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19429386 19429387 rs750114928 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429406 19429407 rs557153367 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19429451 19429452 rs186220095 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19429471 19429472 rs143269047 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19429484 19429485 rs775767566 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19429487 19429488 rs780229475 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429490 19429491 rs555351042 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19429503 19429504 rs573532256 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19429545 19429546 rs148322200 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19429572 19429573 rs2824623 0 + T T C/T genomic single by-frequency,by-submitter 0.244898 0.249948 intron exact 1 1 PERLEGEN, 2 C,T, 2.000000,12.000000, 0.142857,0.857143, maf-5-some-pop,maf-5-all-pops 733 chr21 19429575 19429576 rs751964986 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429656 19429657 rs552901988 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19429658 19429659 rs755371290 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429706 19429707 rs190194297 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19429713 19429714 rs182633592 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19429725 19429726 rs556677666 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19429737 19429738 rs74969387 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 intron exact 1 5 1000GENOMES,GMI,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 124.000000,4884.000000, 0.024760,0.975240, maf-5-some-pop 733 chr21 19429766 19429767 rs77418146 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4875.000000,133.000000, 0.973442,0.026557, maf-5-some-pop 733 chr21 19429814 19429815 rs560857573 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19429888 19429889 rs756315766 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19429916 19429917 rs2846910 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.051326 0.151752 intron exact 1 6 1000GENOMES,EVA_DECODE,GMI,JMKIDD_LAB,SC_JCM,SSMP, 2 A,G, 4876.000000,132.000000, 0.973642,0.026358, maf-5-some-pop 733 chr21 19429919 19429920 rs778114390 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430016 19430017 rs185030851 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19430019 19430020 rs780985494 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430026 19430027 rs149343 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.182296 0.240658 intron exact 1 20 1000GENOMES,ABI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4500.000000,508.000000, 0.898562,0.101438, maf-5-some-pop 733 chr21 19430041 19430042 rs771208728 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430074 19430075 rs532386497 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19430145 19430146 rs551095501 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19430163 19430164 rs140854550 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19430187 19430188 rs775091836 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430188 19430189 rs540860798 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19430222 19430223 rs746827036 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430227 19430228 rs536842414 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19430227 19430227 rs34748882 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 733 chr21 19430305 19430306 rs78315514 0 - C C A/G genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 733 chr21 19430350 19430351 rs555162896 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19430384 19430385 rs567189772 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19430439 19430440 rs202010166 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19430444 19430445 rs752352532 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430455 19430458 rs749977688 0 + CTT CTT -/CTT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19430474 19430475 rs769947363 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19430493 19430494 rs2560726 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 733 chr21 19430524 19430525 rs776597499 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430552 19430553 rs73325277 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 G,T, 90.000000,4918.000000, 0.017971,0.982029, maf-5-some-pop 733 chr21 19430592 19430593 rs204012 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.483053 0.090479 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2043.000000,2965.000000, 0.407947,0.592053, maf-5-some-pop 733 chr21 19430610 19430611 rs570454461 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19430617 19430618 rs868826910 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19430624 19430625 rs544672447 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19430638 19430639 rs556639300 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19430653 19430654 rs204013 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.4941 0.053992 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 2232.000000,2776.000000, 0.445687,0.554313, maf-5-some-pop,maf-5-all-pops 733 chr21 19430681 19430682 rs111647448 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 733 chr21 19430699 19430700 rs117680359 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19430720 19430720 rs35954209 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19430755 19430756 rs572929984 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19430766 19430767 rs189885540 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19430805 19430805 rs11430275 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.479583 0.098954 intron between 1 16 1000GENOMES,ABI,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 3010.000000,1998.000000, 0.601038,0.398962, maf-5-some-pop,maf-5-all-pops 733 chr21 19430808 19430809 rs565023612 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19430821 19430822 rs80102895 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 135.000000,4873.000000, 0.026957,0.973043, maf-5-some-pop 733 chr21 19430858 19430859 rs565816179 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19430859 19430860 rs768118815 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430872 19430873 rs550947965 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19430907 19430908 rs204014 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499451 0.016564 intron exact 1 29 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2587.000000,2421.000000, 0.516573,0.483427, maf-5-some-pop,maf-5-all-pops 733 chr21 19430909 19430910 rs530185090 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19430918 19430919 rs548825494 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19430934 19430935 rs204015 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.196149 0.244131 intron exact 1 21 1000GENOMES,ABI,BCM_SSAHASNP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4456.000000,552.000000, 0.889776,0.110224, maf-5-some-pop 733 chr21 19430939 19430940 rs567767858 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19430940 19430941 rs777951865 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430950 19430951 rs183874076 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19430960 19430961 rs552877526 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19430964 19430964 rs139855193 0 + - - -/TTGTGAAATA genomic insertion by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TTGTGAAATA, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 733 chr21 19430970 19430971 rs749400014 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19430975 19430975 rs376553719 0 + - - -/TGTGAAATAT genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 733 chr21 19431021 19431022 rs867867331 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19431034 19431035 rs571007449 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19431057 19431058 rs757357555 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431063 19431064 rs376539892 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19431073 19431074 rs538635549 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19431080 19431081 rs556503416 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431083 19431084 rs779251522 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431088 19431089 rs204016 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49941 0.017162 intron exact 1 32 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2590.000000,2418.000000, 0.517173,0.482827, maf-5-some-pop,maf-5-all-pops 733 chr21 19431094 19431095 rs535969173 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431095 19431096 rs768479959 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431101 19431102 rs556624708 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19431124 19431125 rs189074477 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19431145 19431146 rs775679564 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19431165 19431173 rs779427351 0 + TCATTAAC TCATTAAC -/TCATTAAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431171 19431172 rs576024283 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19431178 19431179 rs573034341 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19431202 19431203 rs192831390 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19431205 19431206 rs141812678 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19431219 19431220 rs558610286 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431221 19431222 rs116727144 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 4 1000GENOMES,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19431228 19431229 rs183750734 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19431229 19431230 rs769732367 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431266 19431267 rs562843675 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19431274 19431275 rs187603146 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431304 19431305 rs77331056 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,C, 86.000000,4922.000000, 0.017173,0.982827, 733 chr21 19431310 19431311 rs762589224 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431316 19431317 rs146188280 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 733 chr21 19431444 19431445 rs764884475 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19431445 19431446 rs527887436 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431450 19431451 rs137855826 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19431456 19431457 rs774105327 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431491 19431492 rs759792232 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431502 19431503 rs571137632 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19431511 19431512 rs538119816 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19431514 19431515 rs767957580 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431525 19431526 rs753134929 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431526 19431527 rs371211269 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19431544 19431545 rs539144702 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19431549 19431550 rs568547109 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431553 19431554 rs149485875 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19431586 19431587 rs756632643 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19431592 19431593 rs191714970 0 + C C A/C genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 733 chr21 19431650 19431650 rs541147079 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 733 chr21 19431675 19431676 rs572804919 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431680 19431681 rs150268 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.493658 0.055952 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2222.000000,2786.000000, 0.443690,0.556310, maf-5-some-pop,maf-5-all-pops 733 chr21 19431681 19431682 rs9305835 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 7 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4843.000000,165.000000, 0.967053,0.032947, maf-5-some-pop 733 chr21 19431734 19431735 rs143984144 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19431746 19431747 rs370431778 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19431765 19431766 rs544548601 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19431811 19431812 rs11316292 0 + T T -/T genomic deletion by-cluster 0.5 0 intron exact 1 5 BILGI_BIOE,BUSHMAN,EVA_GENOME_DK,GMI,SSMP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19431819 19431820 rs556485398 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431824 19431827 rs869182074 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 733 chr21 19431826 19431827 rs35058306 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 2 ABI,PJP, 0 733 chr21 19431828 19431829 rs148632773 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19431853 19431854 rs374564847 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19431868 19431869 rs552614368 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19431886 19431887 rs377147 0 + A A A/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 2 SC_JCM,TSC-CSHL, 1 A, 422.000000, 1.000000, 733 chr21 19431911 19431912 rs527747955 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431937 19431938 rs546398000 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19431957 19431958 rs207795 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.497558 0.034859 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2679.000000,2329.000000, 0.534944,0.465056, maf-5-some-pop,maf-5-all-pops 733 chr21 19431973 19431974 rs372289325 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19431976 19431977 rs563466283 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19431988 19431989 rs568411787 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19431994 19431995 rs207796 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496968 0.038819 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 2699.000000,2309.000000, 0.538938,0.461062, maf-5-some-pop,maf-5-all-pops 733 chr21 19431999 19432000 rs868578416 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19432008 19432009 rs750617652 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432015 19432016 rs201028744 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19432017 19432018 rs199564150 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19432059 19432060 rs207797 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.497586 0.03466 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2678.000000,2330.000000, 0.534744,0.465256, maf-5-some-pop,maf-5-all-pops 733 chr21 19432066 19432067 rs142423946 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432074 19432075 rs147501090 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432085 19432086 rs114231000 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 48.000000,4960.000000, 0.009585,0.990415, 733 chr21 19432093 19432094 rs751050682 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19432099 19432100 rs184316986 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19432101 19432102 rs780902304 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432146 19432147 rs9305836 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.144632 0.226711 intron exact 1 14 1000GENOMES,AFFY,BCM_SSAHASNP,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 393.000000,4615.000000, 0.078474,0.921526, maf-5-some-pop,genotype-conflict 733 chr21 19432203 19432204 rs559415497 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19432206 19432207 rs769712102 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432214 19432215 rs556497840 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432273 19432274 rs116810396 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4960.000000,48.000000, 0.990415,0.009585, 733 chr21 19432278 19432279 rs169610 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498673 0.025725 intron exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2375.000000,2633.000000, 0.474241,0.525759, maf-5-some-pop,maf-5-all-pops 733 chr21 19432296 19432297 rs375548802 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 28.000000,4980.000000, 0.005591,0.994409, 733 chr21 19432312 19432313 rs188272935 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19432384 19432385 rs116559769 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 47.000000,4961.000000, 0.009385,0.990615, 733 chr21 19432411 19432412 rs192717882 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19432414 19432415 rs140214093 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19432419 19432420 rs543563026 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19432423 19432424 rs2824625 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.135143 0.222054 intron exact 1 16 1000GENOMES,ABI,AFFY,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 365.000000,4643.000000, 0.072883,0.927117, maf-5-some-pop,genotype-conflict 733 chr21 19432424 19432425 rs13046271 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432442 19432443 rs154737 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.493658 0.055952 intron exact 1 25 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 2222.000000,2786.000000, 0.443690,0.556310, maf-5-some-pop,maf-5-all-pops 733 chr21 19432463 19432464 rs13046766 0 + A A A/C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.021333 0.101051 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 4954.000000,54.000000, 0.989217,0.010783, 733 chr21 19432465 19432466 rs566374605 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19432472 19432473 rs185396753 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19432474 19432475 rs13049822 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432488 19432489 rs552030029 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432496 19432497 rs570512174 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432499 19432500 rs154738 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.494609 0.051636 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 2764.000000,2244.000000, 0.551917,0.448083, maf-5-some-pop,maf-5-all-pops 733 chr21 19432505 19432506 rs13046352 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432514 19432515 rs13052648 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432515 19432516 rs13049844 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432525 19432526 rs13046786 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432526 19432527 rs13046356 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSAHASNP, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19432527 19432528 rs9977053 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 56.000000,4952.000000, 0.011182,0.988818, 733 chr21 19432542 19432543 rs190704180 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 733 chr21 19432546 19432547 rs181569612 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19432552 19432553 rs149770840 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19432574 19432575 rs539774020 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19432580 19432581 rs558015985 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19432589 19432590 rs754407339 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432591 19432592 rs576118695 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19432592 19432593 rs13046452 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432602 19432603 rs762257306 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432603 19432604 rs13046455 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432605 19432606 rs13046456 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19432639 19432640 rs185782577 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19432641 19432642 rs561923973 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432644 19432645 rs189070908 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432653 19432654 rs541374707 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19432655 19432656 rs373318968 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19432676 19432677 rs559953294 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19432682 19432683 rs527289072 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19432691 19432692 rs552143772 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432692 19432693 rs564206746 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432697 19432698 rs570047280 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19432710 19432711 rs154739 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.317692 0.240661 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 992.000000,4016.000000, 0.198083,0.801917, maf-5-some-pop 733 chr21 19432718 19432719 rs758545347 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432723 19432724 rs549875802 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19432742 19432743 rs181176092 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19432764 19432765 rs113723331 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.091614 0.193427 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4767.000000,241.000000, 0.951877,0.048123, maf-5-some-pop 733 chr21 19432767 19432771 rs746306359 0 + AAAT AAAT -/AAAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432767 19432767 rs113289940 0 + - - -/AAAT/AAATAAAT/AAATAAATAAAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.251177 0.280762 intron between 1 MixedObserved 3 1000GENOMES,BUSHMAN,LUNTER, 4 -,AAAT,AAATAAAT,AAATAAATAAAT, 4314.000000,301.000000,164.000000,229.000000, 0.861422,0.060104,0.032748,0.045727, rs-cluster-nonoverlapping-alleles 733 chr21 19432768 19432769 rs189541687 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 733 chr21 19432771 19432771 rs745393181 0 + - - -/AAAT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432794 19432794 rs58886259 0 + - - -/TAAA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 733 chr21 19432819 19432820 rs565961584 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19432840 19432841 rs577235083 0 + A A G/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 733 chr21 19432848 19432849 rs535074772 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19432852 19432853 rs207800 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.488606 0.074614 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2126.000000,2882.000000, 0.424521,0.575479, maf-5-some-pop,maf-5-all-pops 733 chr21 19432861 19432862 rs572624130 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19432874 19432875 rs145776035 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19432910 19432911 rs182892856 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19432938 19432939 rs146247918 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.137187 0.223099 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 371.000000,4637.000000, 0.074082,0.925919, maf-5-some-pop 733 chr21 19432953 19432954 rs154740 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497855 0.032677 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2340.000000,2668.000000, 0.467252,0.532748, maf-5-some-pop 733 chr21 19432971 19432972 rs139277137 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 733 chr21 19433013 19433014 rs537169554 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433021 19433022 rs563491921 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19433026 19433027 rs867591746 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19433027 19433027 rs775570451 0 + - - -/AAAAAAA genomic insertion unknown 0 0 intron between 1 1 DDI, 0 733 chr21 19433039 19433040 rs79883733 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 733 chr21 19433041 19433042 rs116643068 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 6 BL,EVA_GENOME_DK,GMI,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 0 733 chr21 19433041 19433041 rs71318121 0 + - - -/AAAAAAA genomic insertion unknown 0.5 0 intron between 1 MixedObserved 1 HUMANGENOME_JCVI, 2 -,AAAAAAA, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19433042 19433043 rs187065157 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19433084 19433085 rs79463535 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433096 19433097 rs770799743 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433125 19433126 rs778428865 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433153 19433154 rs148950813 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.029116 0.117091 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4934.000000,74.000000, 0.985224,0.014776, maf-5-some-pop 733 chr21 19433161 19433162 rs768790641 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19433179 19433180 rs776864542 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19433210 19433210 rs549136592 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19433224 19433225 rs546123609 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19433229 19433230 rs192189414 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433262 19433263 rs28398114 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 57.000000,4951.000000, 0.011382,0.988618, 733 chr21 19433266 19433267 rs564094825 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433267 19433268 rs531299896 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19433286 19433287 rs549912623 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19433299 19433300 rs144790137 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19433305 19433306 rs529123235 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19433312 19433313 rs771847237 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433330 19433331 rs79648908 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4843.000000,165.000000, 0.967053,0.032947, maf-5-some-pop 733 chr21 19433343 19433344 rs565868311 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433346 19433347 rs154741 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.478768 0.100824 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1988.000000,3020.000000, 0.396965,0.603035, maf-5-some-pop 733 chr21 19433353 19433354 rs157056 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.445592 0.155704 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3330.000000,1678.000000, 0.664936,0.335064, maf-5-some-pop 733 chr21 19433363 19433364 rs760870806 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433373 19433374 rs157057 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.44546 0.155869 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3331.000000,1677.000000, 0.665136,0.334864, maf-5-some-pop 733 chr21 19433374 19433375 rs561658305 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19433416 19433417 rs555442036 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433425 19433429 rs776618605 0 + TAAC TAAC -/TAAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433437 19433438 rs867988388 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19433440 19433441 rs157058 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.445724 0.155538 intron exact 1 29 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1679.000000,3329.000000, 0.335264,0.664736, maf-5-some-pop,genotype-conflict 733 chr21 19433442 19433443 rs762857760 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19433445 19433446 rs138645868 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433447 19433448 rs553513046 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433449 19433450 rs578091361 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433475 19433476 rs549762128 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19433492 19433493 rs765662977 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433493 19433494 rs150141 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.445724 0.155538 intron exact 1 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1679.000000,3329.000000, 0.335264,0.664736, maf-5-some-pop 733 chr21 19433494 19433495 rs140405288 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433505 19433506 rs157059 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.445855 0.155373 intron exact 1 27 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1680.000000,3328.000000, 0.335463,0.664537, maf-5-some-pop 733 chr21 19433506 19433507 rs543440542 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433549 19433550 rs561806685 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433573 19433574 rs145515047 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19433575 19433576 rs766562613 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433595 19433596 rs157060 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.445724 0.155538 intron exact 1 22 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1679.000000,3329.000000, 0.335264,0.664736, maf-5-some-pop 733 chr21 19433596 19433597 rs559520387 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433615 19433616 rs755189598 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433617 19433618 rs532948748 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433631 19433632 rs552460261 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19433668 19433669 rs138127008 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19433671 19433672 rs192307 0 - A A C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 2 KWOK,SC_JCM, 1 T, 4.000000, 1.000000, 733 chr21 19433709 19433710 rs753593645 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433742 19433743 rs184025796 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19433759 19433760 rs757151908 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433831 19433832 rs541181626 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19433856 19433857 rs111363150 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19433869 19433871 rs565946991 0 + AG AG -/AG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AG, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19433872 19433876 rs112277583 0 + CAAT CAAT -/CAAT genomic deletion by-cluster,by-1000genomes 0.5 0 intron range 1 DuplicateObserved 11 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,CAAT, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19433872 19433872 rs760681654 0 + - - -/CAAT genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 733 chr21 19433875 19433876 rs77057396 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 BGI,GMI, 0 733 chr21 19433875 19433879 rs368745967 0 + TCAA TCAA -/TCAA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TISHKOFF, 0 733 chr21 19433883 19433884 rs548954248 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19433888 19433889 rs568430736 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19433921 19433922 rs187477894 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433940 19433941 rs758034110 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433949 19433950 rs535143138 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19433968 19433969 rs779740977 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19433994 19433995 rs192336392 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19433996 19433997 rs571821862 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19434020 19434021 rs537575512 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19434021 19434022 rs150506183 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19434039 19434040 rs138478904 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19434066 19434067 rs780569481 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19434078 19434079 rs149264045 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4969.000000,39.000000, 0.992212,0.007788, 733 chr21 19434095 19434096 rs543476734 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19434097 19434098 rs182502326 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19434167 19434168 rs573527581 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19434184 19434185 rs747171867 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19434189 19434190 rs154742 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.497984 0.031685 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2345.000000,2663.000000, 0.468251,0.531749, maf-5-some-pop 733 chr21 19434191 19434195 rs201838672 0 + GTAA GTAA -/GTAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 intron range 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,GTAA, 142.000000,4866.000000, 0.028355,0.971645, maf-5-some-pop 733 chr21 19434193 19434197 rs374822891 0 + AAGT AAGT -/AAGT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19434214 19434215 rs154743 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.239902 0.249796 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 698.000000,4310.000000, 0.139377,0.860623, maf-5-some-pop 733 chr21 19434228 19434229 rs147511154 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19434235 19434237 rs767283648 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19434237 19434238 rs116075451 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19434264 19434265 rs563281760 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19434280 19434281 rs187201396 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19434281 19434282 rs770317822 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19434309 19434310 rs192195562 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19434342 19434343 rs567669271 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19434376 19434377 rs9979919 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.022504 0.103662 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19434380 19434381 rs184570991 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19434407 19434408 rs762991960 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19434421 19434422 rs371696553 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19434456 19434457 rs571648116 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19434461 19434462 rs539280324 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19434471 19434472 rs774441263 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19434510 19434511 rs11702468 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.338976 0.23363 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1083.000000,3925.000000, 0.216254,0.783746, maf-5-some-pop 733 chr21 19434521 19434522 rs2824626 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.441432 0.160792 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3361.000000,1647.000000, 0.671126,0.328874, maf-5-some-pop 733 chr21 19434536 19434537 rs78297514 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 42.000000,4966.000000, 0.008387,0.991613, 733 chr21 19434571 19434571 rs773157145 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 733 chr21 19434586 19434587 rs757060563 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19434607 19434608 rs544298002 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19434617 19434618 rs78624286 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 733 chr21 19434658 19434659 rs573590683 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19434660 19434661 rs11701932 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.441432 0.160792 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3361.000000,1647.000000, 0.671126,0.328874, maf-5-some-pop 733 chr21 19434693 19434693 rs71189579 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.441432 0.160792 intron between 1 14 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, 2 -,T, 3361.000000,1647.000000, 0.671126,0.328874, maf-5-some-pop 733 chr21 19434700 19434701 rs117503979 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 733 chr21 19434707 19434708 rs187692976 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19434717 19434718 rs376936710 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19434727 19434728 rs774185874 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19434736 19434737 rs544835321 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19434740 19434741 rs563166614 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19434745 19434746 rs575063195 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19434746 19434747 rs542920007 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19434762 19434763 rs560980617 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19434775 19434776 rs62213041 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.441295 0.160954 intron exact 1 11 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3362.000000,1646.000000, 0.671326,0.328674, maf-5-some-pop 733 chr21 19434781 19434783 rs113009228 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.441295 0.160954 intron range 1 12 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,CT, 1646.000000,3362.000000, 0.328674,0.671326, maf-5-some-pop 733 chr21 19434782 19434784 rs760181861 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19434786 19434788 rs369224474 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19434809 19434810 rs546669178 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19434820 19434821 rs565414104 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19434821 19434822 rs532630357 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19434928 19434929 rs3097172 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.441432 0.160792 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1647.000000,3361.000000, 0.328874,0.671126, maf-5-some-pop 733 chr21 19434940 19434941 rs569487845 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19434955 19434956 rs184854112 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19434976 19434977 rs188933961 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19435002 19435003 rs568447424 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19435018 19435019 rs754654131 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435031 19435032 rs117969131 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, 733 chr21 19435032 19435033 rs377702389 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 42.000000,4966.000000, 0.008387,0.991613, 733 chr21 19435034 19435035 rs557532561 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19435051 19435051 rs753449433 0 + - - -/C genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435056 19435057 rs181566920 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19435075 19435076 rs780553043 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19435153 19435154 rs112256770 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19435199 19435201 rs752039220 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_DECODE, 0 733 chr21 19435199 19435203 rs778335808 0 + AGAG AGAG -/AGAG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435200 19435201 rs116418463 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 733 chr21 19435202 19435203 rs183841945 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19435247 19435248 rs773599943 0 + A A A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19435308 19435309 rs749747098 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435319 19435320 rs142291191 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19435327 19435328 rs151238962 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19435341 19435342 rs561278206 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19435353 19435354 rs201244597 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 GMI,SSMP, 0 733 chr21 19435393 19435394 rs573038910 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19435394 19435395 rs570658028 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19435429 19435430 rs540650428 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19435448 19435449 rs774347629 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435494 19435495 rs73310409 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK, 2 C,T, 4913.000000,95.000000, 0.981030,0.018970, maf-5-some-pop 733 chr21 19435506 19435507 rs759604784 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435514 19435515 rs532515363 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19435533 19435534 rs189924679 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19435542 19435543 rs139316316 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19435549 19435550 rs530363688 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19435597 19435598 rs1688171 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.335559 0.234904 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3940.000000,1068.000000, 0.786741,0.213259, maf-5-some-pop 733 chr21 19435608 19435609 rs781617857 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19435629 19435630 rs775626186 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435692 19435693 rs761639642 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435714 19435715 rs567184562 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19435725 19435726 rs765073665 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435732 19435733 rs748342877 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19435734 19435735 rs750254106 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435789 19435790 rs527954018 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19435801 19435802 rs553287764 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435822 19435823 rs181363423 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA-GONL, 0 733 chr21 19435845 19435846 rs200683635 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19435880 19435881 rs766490515 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435884 19435885 rs751067137 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19435972 19435973 rs1735269 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.342806 0.232136 intron exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3908.000000,1100.000000, 0.780351,0.219649, maf-5-some-pop 733 chr21 19436018 19436019 rs570922944 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19436029 19436030 rs186010438 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19436107 19436108 rs16998250 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.048674 0.148216 intron exact 1 5 1000GENOMES,HAMMER_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4883.000000,125.000000, 0.975040,0.024960, maf-5-some-pop 733 chr21 19436172 19436176 rs149770837 0 + TCTC TCTC -/TCTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TCTC, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19436174 19436178 rs371573374 0 + TCTC TCTC -/TCTC genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19436183 19436185 rs780318743 0 + CT CT -/CT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436188 19436192 rs749231523 0 + TCTT TCTT -/TCTT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19436199 19436200 rs780864748 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436213 19436214 rs28512327 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19436291 19436292 rs536481405 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19436294 19436295 rs555014624 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19436310 19436311 rs557112559 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19436349 19436350 rs190929296 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19436385 19436386 rs755787405 0 + C C C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436395 19436396 rs572965619 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19436420 19436421 rs749658777 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436432 19436433 rs554752526 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19436435 19436436 rs770917754 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19436437 19436438 rs74516187 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 54.000000,4954.000000, 0.010783,0.989217, 733 chr21 19436439 19436440 rs577312481 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19436449 19436450 rs370548553 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19436453 19436454 rs544612135 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19436466 19436467 rs181914251 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19436502 19436503 rs530119355 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19436510 19436511 rs745942011 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436520 19436540 rs543892587 0 + CCATTTCAATTGTGTCATAC CCATTTCAATTGTGTCATAC -/CCATTTCAATTGTGTCATAC genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436528 19436529 rs542435061 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19436531 19436532 rs373863608 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19436539 19436540 rs1700910 0 - C C C/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 0 733 chr21 19436551 19436552 rs146727639 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19436569 19436570 rs543618583 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19436591 19436592 rs527848262 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19436631 19436632 rs772087253 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436676 19436677 rs552456420 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19436679 19436680 rs775659978 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436680 19436681 rs80264892 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,C, 4811.000000,197.000000, 0.960663,0.039337, maf-5-some-pop 733 chr21 19436698 19436699 rs769001199 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436728 19436729 rs773131982 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436742 19436743 rs762899350 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436813 19436814 rs766395437 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436823 19436824 rs532021055 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19436828 19436829 rs575022767 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19436830 19436831 rs60328565 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA, 2 C,T, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 733 chr21 19436843 19436844 rs190473899 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19436848 19436849 rs554614011 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19436855 19436856 rs140362163 0 - C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19436874 19436875 rs752266947 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436890 19436891 rs775167044 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 733 chr21 19436905 19436906 rs145429951 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19436932 19436933 rs576998753 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19436968 19436969 rs78002140 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 733 chr21 19436982 19436983 rs157733 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.342582 0.232225 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3909.000000,1099.000000, 0.780551,0.219449, maf-5-some-pop 733 chr21 19437003 19437004 rs3913760 0 - T T A/T genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 733 chr21 19437046 19437047 rs559920745 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19437049 19437050 rs544650655 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19437054 19437055 rs3913759 0 - T T A/T genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 733 chr21 19437057 19437058 rs544142941 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19437067 19437068 rs157732 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.342358 0.232314 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1098.000000,3910.000000, 0.219249,0.780751, maf-5-some-pop 733 chr21 19437068 19437069 rs183082232 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437075 19437076 rs574745286 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437077 19437078 rs541970961 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437081 19437082 rs560590049 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19437082 19437083 rs60833604 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.037988 0.132479 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK, 2 A,G, 97.000000,4911.000000, 0.019369,0.980631, maf-5-some-pop 733 chr21 19437084 19437085 rs154744 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.224116 0.248656 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 644.000000,4364.000000, 0.128594,0.871406, maf-5-some-pop 733 chr21 19437106 19437107 rs62215367 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.317451 0.240729 intron exact 1 19 1000GENOMES,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4017.000000,991.000000, 0.802117,0.197883, maf-5-some-pop 733 chr21 19437119 19437120 rs367682906 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19437185 19437190 rs777001674 0 + TTAAA TTAAA -/TTAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437223 19437224 rs747176881 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437234 19437235 rs551072746 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19437284 19437285 rs531862594 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437304 19437305 rs777042284 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437313 19437314 rs762809899 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437380 19437381 rs570993664 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19437406 19437407 rs550033340 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19437440 19437441 rs187067706 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437466 19437467 rs529651400 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19437507 19437508 rs191340659 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19437513 19437513 rs34199598 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19437567 19437568 rs566558352 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19437570 19437571 rs534016612 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19437638 19437639 rs183142421 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19437644 19437645 rs154745 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.300169 0.244914 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 921.000000,4087.000000, 0.183906,0.816094, maf-5-some-pop 733 chr21 19437650 19437651 rs774219891 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437658 19437659 rs538158028 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19437661 19437662 rs149103468 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437677 19437678 rs574746816 0 + T T A/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 733 chr21 19437678 19437679 rs369673355 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19437679 19437680 rs535841477 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19437691 19437692 rs154746 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.481319 0.094823 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2020.000000,2988.000000, 0.403355,0.596645, maf-5-some-pop 733 chr21 19437710 19437711 rs572487605 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437723 19437724 rs767495449 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437730 19437731 rs546016857 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19437761 19437762 rs564362584 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437844 19437845 rs576195630 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19437845 19437845 rs566661960 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 733 chr21 19437867 19437868 rs543714884 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19437868 19437869 rs143040445 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19437893 19437894 rs549941569 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19437908 19437909 rs529701562 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19437932 19437933 rs774858834 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19437933 19437934 rs569962570 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19437940 19437941 rs548158513 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19437979 19437980 rs154747 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498009 0.031487 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2662.000000,2346.000000, 0.531550,0.468450, maf-5-some-pop 733 chr21 19438014 19438015 rs372265666 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19438018 19438019 rs752902663 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19438023 19438024 rs756345364 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19438045 19438046 rs116837579 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19438073 19438074 rs7282381 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 6 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 733 chr21 19438097 19438098 rs3859706 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.075947 0.179459 intron exact 1 9 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_JCM,SSMP,TSC-CSHL, 2 C,T, 198.000000,4810.000000, 0.039537,0.960463, maf-5-some-pop 733 chr21 19438135 19438136 rs537994052 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19438138 19438139 rs555672917 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19438151 19438152 rs157731 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498034 0.031288 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2347.000000,2661.000000, 0.468650,0.531350, maf-5-some-pop 733 chr21 19438189 19438190 rs148181255 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19438227 19438228 rs433841 0 - T T A/C genomic single by-frequency 0.5 0 intron exact 1 InconsistentAlleles 1 SC_JCM, 2 A,T, 4.000000,4.000000, 0.500000,0.500000, 733 chr21 19438261 19438262 rs113504933 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19438288 19438289 rs758823712 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19438316 19438317 rs572081786 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19438317 19438318 rs187831482 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19438327 19438328 rs537473044 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19438433 19438434 rs557788282 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19438435 19438436 rs150267 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496714 0.040402 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2301.000000,2707.000000, 0.459465,0.540535, maf-5-some-pop,maf-5-all-pops 733 chr21 19438462 19438463 rs543605992 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19438527 19438528 rs562284631 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19438555 19438556 rs28540093 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19438560 19438561 rs770070418 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19438587 19438588 rs867998264 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19438593 19438594 rs770060568 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19438601 19438602 rs146968246 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19438678 19438679 rs773952394 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19438680 19438681 rs560114203 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19438709 19438710 rs147910572 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.062604 0.165477 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,T, 162.000000,4846.000000, 0.032348,0.967652, 733 chr21 19438711 19438712 rs775593156 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19438761 19438762 rs192522707 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19438782 19438783 rs545919731 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19438789 19438790 rs745743721 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19438796 19438797 rs564169120 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19438804 19438805 rs184539458 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19438815 19438816 rs138010882 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19438816 19438817 rs114509720 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19438885 19438886 rs529209786 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19438915 19438916 rs547340995 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19438941 19438942 rs565747223 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19438952 19438953 rs144020889 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 733 chr21 19439006 19439007 rs557876006 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439026 19439027 rs147294656 0 + C C C/T genomic single by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 4976.000000,32.000000, 0.993610,0.006390, 733 chr21 19439028 19439029 rs537279854 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439032 19439033 rs555904856 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19439061 19439062 rs574120455 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19439092 19439093 rs541724755 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19439196 19439197 rs553660309 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19439311 19439312 rs75675761 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19439370 19439371 rs545807756 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439378 19439379 rs377517443 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19439392 19439393 rs776144090 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19439441 19439442 rs761385648 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19439453 19439454 rs578036827 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19439457 19439460 rs767468962 0 + ACA ACA -/ACA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19439458 19439459 rs368861591 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19439476 19439477 rs564206867 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19439477 19439478 rs531415004 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439490 19439491 rs187802923 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19439503 19439504 rs191951148 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19439620 19439621 rs529039843 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439671 19439672 rs547671876 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19439673 19439674 rs565633118 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439788 19439789 rs9978283 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 intron exact 1 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 60.000000,4948.000000, 0.011981,0.988019, 733 chr21 19439791 19439792 rs372587987 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19439810 19439811 rs539946468 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19439846 19439847 rs569840666 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439849 19439850 rs750736330 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19439861 19439862 rs537571264 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439867 19439868 rs758845828 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19439915 19439916 rs149422576 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439919 19439920 rs144679095 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439931 19439932 rs534905112 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19439961 19439962 rs553745874 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19439971 19439972 rs559651899 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19440016 19440017 rs184254784 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19440056 19440057 rs77711924 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19440065 19440066 rs557808313 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19440102 19440103 rs779680266 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19440104 19440105 rs575913335 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19440157 19440158 rs543516193 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19440158 19440159 rs573426439 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19440178 19440179 rs148496913 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19440246 19440247 rs543959085 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19440319 19440320 rs190116585 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19440402 19440403 rs867692218 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19440488 19440489 rs866214583 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19440501 19440502 rs144196973 0 + T T C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 733 chr21 19440504 19440505 rs781364626 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19440521 19440521 rs542798438 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 733 chr21 19440531 19440531 rs368623777 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 733 chr21 19440555 19440556 rs114000618 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19440563 19440564 rs533034972 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19440576 19440577 rs748245069 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19440596 19440597 rs756286207 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19440604 19440604 rs34270008 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19440609 19440610 rs375871411 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 4 1000GENOMES,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19440645 19440646 rs181261206 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19440659 19440660 rs369475404 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 733 chr21 19440670 19440671 rs146586587 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 733 chr21 19440711 19440712 rs184950142 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19440729 19440730 rs11909882 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.182933 0.240836 intron exact 1 12 1000GENOMES,BUSHMAN,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 510.000000,4498.000000, 0.101837,0.898163, maf-5-some-pop 733 chr21 19440736 19440737 rs189270796 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19440761 19440762 rs775161472 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19440810 19440811 rs771946751 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19440811 19440812 rs144107096 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19440832 19440833 rs571844982 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19440845 19440846 rs158005 0 - T T A/C genomic single by-cluster,by-frequency,by-1000genomes 0.49753 0.035057 intron exact 1 21 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2680.000000,2328.000000, 0.535144,0.464856, maf-5-some-pop,maf-5-all-pops 733 chr21 19440930 19440931 rs563515191 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19441007 19441008 rs150977301 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19441021 19441022 rs536638770 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19441022 19441023 rs528043196 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19441023 19441024 rs140884604 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19441064 19441065 rs573638903 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19441098 19441099 rs780076426 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19441111 19441112 rs60581304 0 + T T -/T genomic deletion unknown 0.5 0 intron exact 1 2 BUSHMAN,HGSV, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19441182 19441183 rs7276319 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.063076 0.166442 intron exact 1 SingleClassTriAllelic 12 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM, 3 A,G,T, 4845.000000,8.000000,155.000000, 0.967452,0.001597,0.030950, maf-5-some-pop,maf-5-all-pops 733 chr21 19441194 19441195 rs761439342 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19441208 19441209 rs80251237 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, 733 chr21 19441218 19441219 rs769305428 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19441238 19441239 rs544910329 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19441292 19441293 rs772957044 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19441337 19441341 rs199952646 0 + TCAG TCAG -/TCAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron range 1 2 1000GENOMES,GMI, 2 -,TCAG, 20.000000,4988.000000, 0.003994,0.996006, 733 chr21 19441339 19441340 rs563387228 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19441340 19441341 rs530977299 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19441350 19441351 rs762543573 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19441381 19441382 rs2824627 0 + G G A/G/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.051326 0.151752 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4876.000000,132.000000, 0.973642,0.026358, maf-5-some-pop 733 chr21 19441423 19441424 rs535685701 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19441430 19441431 rs561464618 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19441432 19441433 rs528601578 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19441477 19441478 rs865812461 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19441499 19441499 rs561833143 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 1 1000GENOMES, 2 -,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19441532 19441533 rs764865141 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19441616 19441617 rs774961782 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19441621 19441622 rs547081369 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19441632 19441633 rs180909083 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19441648 19441649 rs111889040 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 3 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19441684 19441685 rs158004 0 - T T A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.339203 0.233544 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3924.000000,1084.000000, 0.783546,0.216454, maf-5-some-pop 733 chr21 19441695 19441696 rs186321058 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19441708 19441709 rs868802847 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19441718 19441719 rs569439944 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19441746 19441747 rs34567280 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19441749 19441750 rs191114851 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19441758 19441759 rs149589 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.479014 0.100263 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3017.000000,1991.000000, 0.602436,0.397564, maf-5-some-pop 733 chr21 19441768 19441769 rs61020073 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA,ILLUMINA-UK, 2 C,T, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 733 chr21 19441857 19441859 rs749002966 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSMP, 0 733 chr21 19441857 19441857 rs71318122 0 + - - -/AT/ATAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.34146 0.23267 intron between 1 MixedObserved,InconsistentAlleles 7 1000GENOMES,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER, 2 -,AT, 3914.000000,1094.000000, 0.781550,0.218450, maf-5-some-pop 733 chr21 19441875 19441875 rs36108008 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 ABI,GMI,HUMANGENOME_JCVI, 1 AT, 2.000000, 1.000000, 733 chr21 19442055 19442056 rs534424693 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19442074 19442075 rs182011701 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19442105 19442106 rs577417528 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19442110 19442111 rs186905834 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19442169 19442170 rs117863551 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074843 0.178382 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 195.000000,4813.000000, 0.038938,0.961062, maf-5-some-pop 733 chr21 19442206 19442207 rs191749837 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19442221 19442222 rs777830430 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442277 19442278 rs209272 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.485324 0.084396 intron exact 1 19 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2075.000000,2933.000000, 0.414337,0.585663, maf-5-some-pop 733 chr21 19442300 19442349 rs752777960 0 + CTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCCC CTTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCCC lengthTooLong genomic in-del unknown 0 0 intron range 1 ObservedTooLong 1 EVA_GENOME_DK, 0 733 chr21 19442310 19442314 rs753500958 0 + CCTT CCTT -/CCTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442314 19442314 rs755537479 0 + - - -/CCCTT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442338 19442339 rs113487050 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19442342 19442343 rs112616259 0 + T T C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 C, 1.000000, 1.000000, 733 chr21 19442342 19442342 rs764793221 0 + - - -/T/TTCCA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442343 19442343 rs762159927 0 + - - -/TCCC genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 733 chr21 19442344 19442345 rs542881396 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19442346 19442347 rs150156497 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.127254 0.217792 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4666.000000,342.000000, 0.931709,0.068291, maf-5-some-pop 733 chr21 19442347 19442348 rs868011711 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19442351 19442354 rs201728198 0 + CCA CCA -/CCA genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,EVA_GENOME_DK, 0 733 chr21 19442352 19442353 rs528454598 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001746 0.029498 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,4573.000000, 0.000874,0.999126, 733 chr21 19442353 19442354 rs172236 0 - A A G/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 BL,KWOK, 0 733 chr21 19442353 19442354 rs541282557 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.157425 0.232228 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,A, 431.000000,4573.000000, 0.086131,0.913869, maf-5-some-pop 733 chr21 19442436 19442437 rs117563894 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 733 chr21 19442447 19442448 rs565375633 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19442454 19442455 rs2638082 0 - C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.487432 0.07827 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2901.000000,2107.000000, 0.579273,0.420727, maf-5-some-pop 733 chr21 19442461 19442462 rs551179448 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19442495 19442496 rs183275589 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19442516 19442517 rs146924962 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19442550 19442551 rs71189580 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 733 chr21 19442552 19442552 rs199903572 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 4979.000000,29.000000, 0.994209,0.005791, 733 chr21 19442554 19442555 rs114434646 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 733 chr21 19442558 19442559 rs116528691 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19442559 19442559 rs34663892 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19442605 19442606 rs188002260 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 733 chr21 19442606 19442607 rs118082289 0 + G G A/G genomic single by-1000genomes 0.016528 0.089391 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,119.000000, 0.008333,0.991667, 733 chr21 19442625 19442626 rs189563539 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19442708 19442709 rs368256525 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 733 chr21 19442801 19442802 rs573335364 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442839 19442840 rs768564647 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442846 19442847 rs570996350 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19442851 19442852 rs538476107 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19442852 19442853 rs556902334 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19442874 19442875 rs781151689 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442877 19442878 rs575364961 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19442892 19442893 rs747576309 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442908 19442911 rs140654966 0 + TCT TCT -/TCT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 2 1000GENOMES,LUNTER, 2 -,TCT, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19442954 19442955 rs769307090 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19442976 19442977 rs542567075 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19442999 19443000 rs138046809 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19443048 19443049 rs143486710 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19443059 19443060 rs754079539 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19443060 19443061 rs182259803 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19443111 19443112 rs772617884 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443120 19443121 rs762607704 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443121 19443122 rs770712931 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443142 19443142 rs34169134 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19443206 19443207 rs76804537 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19443216 19443217 rs111964274 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 BUSHMAN,TISHKOFF, 1 -, 2.000000, 1.000000, 733 chr21 19443224 19443225 rs565412014 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443235 19443236 rs186744825 0 + C C C/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 C,G, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19443250 19443251 rs544664609 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19443298 19443299 rs562956246 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443303 19443304 rs74910777 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4937.000000,71.000000, 0.985823,0.014177, maf-5-some-pop 733 chr21 19443371 19443372 rs548601780 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443385 19443386 rs209257 0 - T T A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.262985 0.249663 intron exact 1 MixedObserved 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 780.000000,4228.000000, 0.155751,0.844249, maf-5-some-pop 733 chr21 19443385 19443386 rs67780690 0 + T T GC/TT genomic mnp unknown 0.5 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,ObservedMismatch 1 HUMANGENOME_JCVI, 2 GC,TT, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19443385 19443387 rs373722095 0 + TT TT GC/TT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 733 chr21 19443386 19443387 rs172265 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.342134 0.232404 intron exact 1 15 1000GENOMES,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1097.000000,3911.000000, 0.219050,0.780950, maf-5-some-pop 733 chr21 19443387 19443387 rs201120773 0 + - - -/GC genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19443392 19443393 rs8128550 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WI_SSAHASNP, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19443445 19443446 rs375779277 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19443464 19443465 rs549726285 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.216048 0.247684 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 617.000000,4391.000000, 0.123203,0.876797, maf-5-some-pop,maf-5-all-pops 733 chr21 19443464 19443464 rs774420408 0 + - - -/T/TT/TTT genomic insertion by-cluster 0 0 intron between 1 MixedObserved 4 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 rs-cluster-nonoverlapping-alleles 733 chr21 19443465 19443465 rs10634402 0 + - - -/TT genomic insertion by-cluster 0.5 0 intron between 1 2 HUMANGENOME_JCVI,PJP, 2 -,TT, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19443470 19443471 rs570884161 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19443482 19443483 rs78819674 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19443483 19443484 rs77403051 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19443506 19443507 rs183417938 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19443518 19443519 rs550613057 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443556 19443557 rs568960740 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443563 19443563 rs372440200 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 733 chr21 19443587 19443588 rs536444979 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443588 19443589 rs375848252 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_DECODE,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19443647 19443648 rs760037198 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443653 19443654 rs188635352 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19443667 19443668 rs205701 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.270351 0.24917 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 4201.000000,807.000000, 0.838858,0.161142, maf-5-some-pop 733 chr21 19443672 19443673 rs559013127 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443678 19443679 rs577275602 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19443683 19443684 rs141579708 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4913.000000,95.000000, 0.981030,0.018970, maf-5-some-pop 733 chr21 19443704 19443705 rs562950927 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19443717 19443718 rs761122585 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443718 19443719 rs574978184 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19443734 19443735 rs158019 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.466927 0.124269 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3148.000000,1860.000000, 0.628594,0.371406, maf-5-some-pop 733 chr21 19443750 19443751 rs768333959 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19443751 19443752 rs192909139 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19443752 19443753 rs564432690 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443757 19443758 rs9977022 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.115788 0.21092 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4699.000000,309.000000, 0.938299,0.061701, maf-5-some-pop 733 chr21 19443758 19443759 rs200570314 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19443760 19443761 rs139755602 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443779 19443780 rs564888817 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19443792 19443793 rs532085310 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19443797 19443798 rs747837637 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19443818 19443819 rs550451001 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443826 19443827 rs533405400 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443870 19443871 rs568925359 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443872 19443873 rs540364805 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19443890 19443891 rs536092326 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19443891 19443892 rs142802046 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19443910 19443911 rs566642812 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19443937 19443938 rs114447832 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19443946 19443947 rs372810937 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19443959 19443960 rs558850487 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19443974 19443975 rs754803948 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19443983 19443984 rs184717446 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19443984 19443985 rs780995961 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19444017 19444018 rs538233056 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19444018 19444019 rs189639599 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19444047 19444048 rs574858710 0 + A A A/T genomic single by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 1 1000GENOMES, 2 A,T, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19444088 19444089 rs541932321 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19444092 19444093 rs560332228 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19444129 19444130 rs777269673 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19444130 19444131 rs114937244 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 54.000000,4954.000000, 0.010783,0.989217, 733 chr21 19444173 19444174 rs158020 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.471292 0.116318 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1904.000000,3104.000000, 0.380192,0.619808, maf-5-some-pop 733 chr21 19444175 19444176 rs543858321 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19444195 19444196 rs760897280 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19444213 19444214 rs532575980 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19444216 19444217 rs191310843 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19444224 19444225 rs774196686 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19444226 19444227 rs114733625 0 + C C C/G genomic single by-frequency,by-1000genomes 0.033324 0.124705 intron exact 1 1 1000GENOMES, 2 C,G, 116.000000,2.000000, 0.983051,0.016949, 733 chr21 19444233 19444234 rs563157574 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 -,T, 14.000000,4994.000000, 0.002796,0.997204, 733 chr21 19444247 19444248 rs550536054 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19444322 19444323 rs562473997 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19444331 19444332 rs746205110 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19444391 19444392 rs529817032 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19444493 19444496 rs561245806 0 + AAC AAC -/AAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron range 1 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,AAC, 27.000000,4981.000000, 0.005391,0.994609, 733 chr21 19444496 19444497 rs370654467 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19444512 19444513 rs146050411 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.056607 0.158427 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,C, 146.000000,4862.000000, 0.029153,0.970847, maf-5-some-pop 733 chr21 19444529 19444529 rs79929086 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.49925 0.019354 intron between 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,PADH-LAB_SPU,SSIP,SSMP, 2 -,A, 2407.000000,2601.000000, 0.480631,0.519369, maf-5-some-pop 733 chr21 19444530 19444530 rs368634400 0 + - - -/G genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19444534 19444535 rs201509035 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19444534 19444534 rs11403280 0 + - - -/A/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved 2 1000GENOMES,ABI, 0 733 chr21 19444546 19444547 rs566682469 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19444554 19444555 rs376874392 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19444565 19444566 rs158021 0 - C C A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49925 0.019354 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2601.000000,2407.000000, 0.519369,0.480631, maf-5-some-pop 733 chr21 19444584 19444585 rs764516830 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19444588 19444589 rs158022 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.49925 0.019354 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 2601.000000,2407.000000, 0.519369,0.480631, maf-5-some-pop 733 chr21 19444591 19444592 rs570713816 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19444637 19444638 rs183709246 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19444647 19444648 rs559724029 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19444679 19444680 rs761927221 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19444709 19444710 rs546237423 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19444769 19444770 rs556544022 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19444795 19444796 rs766518233 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 733 chr21 19444796 19444797 rs158023 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49931 0.018557 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2597.000000,2411.000000, 0.518570,0.481430, maf-5-some-pop 733 chr21 19444808 19444809 rs570910440 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19444866 19444867 rs535957090 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19444911 19444912 rs158024 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.49931 0.018557 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2597.000000,2411.000000, 0.518570,0.481430, maf-5-some-pop 733 chr21 19444917 19444918 rs758640510 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19444985 19444986 rs158025 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499325 0.018358 intron exact 1 MixedObserved 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 2412.000000,2596.000000, 0.481629,0.518371, maf-5-some-pop 733 chr21 19444985 19444985 rs553571995 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA-GONL, 0 733 chr21 19444997 19444998 rs62215368 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 733 chr21 19445011 19445012 rs535986128 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19445083 19445084 rs779905742 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19445139 19445140 rs112463544 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19445157 19445158 rs558064800 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19445159 19445160 rs140089864 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19445283 19445284 rs543728191 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19445309 19445310 rs756076419 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19445349 19445350 rs143648016 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,GMI,JMKIDD_LAB, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19445351 19445352 rs181900934 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19445356 19445357 rs118118090 0 + C C C/T genomic single by-1000genomes 0.016528 0.089391 intron exact 1 1 1000GENOMES, 2 C,T, 119.000000,1.000000, 0.991667,0.008333, 733 chr21 19445391 19445392 rs187411036 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19445405 19445406 rs748809721 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19445453 19445454 rs756867864 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19445466 19445467 rs560286312 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19445480 19445481 rs144048492 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 48.000000,4960.000000, 0.009585,0.990415, 733 chr21 19445516 19445517 rs112772785 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19445549 19445550 rs570682457 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19445554 19445555 rs149270146 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 733 chr21 19445577 19445578 rs531651381 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19445593 19445594 rs73196684 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19445631 19445632 rs745472994 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19445649 19445650 rs575918097 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19445676 19445677 rs549768329 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19445685 19445686 rs769633311 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19445706 19445707 rs78331782 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19445708 19445709 rs142165335 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19445770 19445771 rs553132745 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19445802 19445803 rs553891745 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19445820 19445821 rs796218052 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 733 chr21 19445828 19445829 rs151229772 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19445841 19445842 rs368081168 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19445848 19445849 rs777382434 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19445888 19445889 rs544910988 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19445925 19445926 rs558354236 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19445927 19445928 rs576525304 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19445929 19445930 rs190067583 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19445941 19445942 rs205702 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 2 KWOK,SC_JCM, 1 C, 424.000000, 1.000000, 733 chr21 19446006 19446007 rs748794514 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19446022 19446023 rs200965393 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19446035 19446036 rs158026 0 - G G A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499325 0.018358 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 19 1000GENOMES,BCMHGSC_JDW,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2412.000000,2596.000000, 0.481629,0.518371, maf-5-some-pop 733 chr21 19446037 19446038 rs761247056 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19446071 19446072 rs574421503 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19446077 19446078 rs578052833 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19446079 19446080 rs560323147 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19446137 19446138 rs141421742 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19446142 19446143 rs747388057 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446209 19446214 rs373317482 0 + AATAA AATAA -/AATAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron range 1 3 1000GENOMES,EVA-GONL,LUNTER, 2 -,AATAA, 54.000000,4954.000000, 0.010783,0.989217, 733 chr21 19446230 19446231 rs770877078 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446254 19446255 rs769182149 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446332 19446334 rs368915072 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron range 1 2 1000GENOMES,LUNTER, 2 -,AG, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19446352 19446353 rs560299255 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19446353 19446354 rs181764505 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19446361 19446362 rs564316256 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19446374 19446375 rs145043887 0 + T T C/T genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 38.000000,4970.000000, 0.007588,0.992412, 733 chr21 19446392 19446393 rs550096851 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19446432 19446433 rs561828271 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19446447 19446448 rs765250392 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446469 19446470 rs542765497 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19446474 19446475 rs529285132 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19446503 19446504 rs773292854 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446516 19446517 rs763093282 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446550 19446551 rs562337014 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446575 19446576 rs547366961 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19446595 19446596 rs531452500 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19446643 19446644 rs565711136 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19446646 19446647 rs752524812 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446695 19446696 rs539559724 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19446743 19446744 rs551240339 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19446755 19446756 rs186374883 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19446783 19446784 rs76744832 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, 733 chr21 19446801 19446802 rs190198651 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19446815 19446816 rs753678750 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446832 19446833 rs757286277 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19446850 19446851 rs559860054 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19446884 19446885 rs535470558 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19446898 19446899 rs75729392 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 733 chr21 19446924 19446925 rs182644390 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19446946 19446947 rs158027 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494815 0.050654 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2759.000000,2249.000000, 0.550919,0.449081, maf-5-some-pop 733 chr21 19446966 19446967 rs551600803 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19446995 19446996 rs185036733 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WARNICH_LAB, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19447072 19447073 rs114445051 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4974.000000,34.000000, 0.993211,0.006789, 733 chr21 19447081 19447082 rs77974335 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 57.000000,4951.000000, 0.011382,0.988618, 733 chr21 19447120 19447121 rs562046725 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19447121 19447122 rs529174982 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19447123 19447124 rs547257225 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19447203 19447204 rs758122314 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19447206 19447207 rs559330222 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19447240 19447241 rs547343112 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19447360 19447361 rs567152321 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19447376 19447377 rs551895732 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19447421 19447422 rs570042527 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19447471 19447472 rs537685789 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19447477 19447478 rs158028 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496874 0.039413 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2306.000000,2702.000000, 0.460463,0.539537, maf-5-some-pop 733 chr21 19447494 19447495 rs158029 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494976 0.049867 intron exact 1 27 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2253.000000,2755.000000, 0.449880,0.550120, maf-5-some-pop 733 chr21 19447514 19447515 rs75709256 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4962.000000,46.000000, 0.990815,0.009185, 733 chr21 19447618 19447619 rs553656435 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19447754 19447755 rs142064653 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19447760 19447761 rs538467064 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19447767 19447768 rs773274338 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19447776 19447777 rs158030 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494976 0.049867 intron exact 1 28 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2755.000000,2253.000000, 0.550120,0.449880, maf-5-some-pop 733 chr21 19447782 19447783 rs578240898 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19447788 19447789 rs138438791 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19447798 19447799 rs576036981 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19447802 19447803 rs148992800 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19447804 19447805 rs561563361 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19447811 19447812 rs755803092 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19447825 19447826 rs143756510 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19447832 19447833 rs147724484 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.087635 0.190099 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,A, 230.000000,4778.000000, 0.045927,0.954073, maf-5-some-pop 733 chr21 19447866 19447867 rs540928092 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19447919 19447920 rs774478499 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19447953 19447954 rs559216512 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19447996 19447997 rs138488523 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19448017 19448018 rs759834764 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19448029 19448030 rs189887572 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19448056 19448057 rs563833143 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19448061 19448062 rs143035468 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19448079 19448080 rs528604719 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19448129 19448130 rs76759980 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19448168 19448169 rs528694001 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19448195 19448196 rs748997970 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19448215 19448216 rs547358270 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19448232 19448233 rs113652462 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19448242 19448243 rs183860826 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19448244 19448245 rs146061627 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19448260 19448261 rs114704440 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.084 0.186933 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 220.000000,4788.000000, 0.043930,0.956070, maf-5-some-pop 733 chr21 19448283 19448284 rs138790496 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19448295 19448296 rs536758471 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19448299 19448300 rs761779606 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19448352 19448353 rs765335667 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19448368 19448369 rs201669794 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19448421 19448425 rs75154475 0 + AGAC AGAC -/AGAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.056231 0.157967 intron range 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AGAC, 145.000000,4863.000000, 0.028954,0.971046, maf-5-some-pop 733 chr21 19448456 19448457 rs574172991 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19448458 19448459 rs554098484 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19448477 19448478 rs749927294 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19448488 19448489 rs116268713 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19448495 19448496 rs757883366 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19448505 19448506 rs188809278 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19448507 19448508 rs552880231 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19448512 19448513 rs141410113 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19448539 19448540 rs548393529 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19448578 19448579 rs778498100 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19448625 19448626 rs779644066 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19448650 19448651 rs116525030 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.056983 0.158885 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4861.000000,147.000000, 0.970647,0.029353, maf-5-some-pop 733 chr21 19448655 19448656 rs150863971 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19448659 19448660 rs751120978 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19448662 19448663 rs375889943 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19448739 19448740 rs573992590 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19448749 19448750 rs372531203 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19448949 19448950 rs868286569 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19448957 19448958 rs543191824 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19449019 19449020 rs139295727 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19449054 19449055 rs158031 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.498774 0.02473 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2628.000000,2380.000000, 0.524760,0.475240, maf-5-some-pop,maf-5-all-pops 733 chr21 19449083 19449084 rs193041221 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19449099 19449100 rs748579119 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449103 19449104 rs770271674 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449119 19449120 rs571843411 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449195 19449196 rs532711920 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19449273 19449274 rs114782349 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19449310 19449311 rs183522891 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19449312 19449313 rs188767158 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449314 19449315 rs78078564 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.056231 0.157967 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 G,T, 4863.000000,145.000000, 0.971046,0.028954, maf-5-some-pop 733 chr21 19449376 19449377 rs555080044 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449383 19449384 rs770877497 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449401 19449402 rs774513132 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19449419 19449420 rs561908295 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19449430 19449431 rs759622850 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449450 19449451 rs191728958 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449475 19449478 rs113345289 0 + CTA CTA -/CTA genomic deletion unknown 0.5 0 intron range 1 1 BUSHMAN, 2 -,CTA, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19449488 19449489 rs534536100 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449502 19449503 rs552771088 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449509 19449510 rs55916013 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,SSMP, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 733 chr21 19449529 19449530 rs149727788 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4964.000000,44.000000, 0.991214,0.008786, 733 chr21 19449538 19449539 rs184318457 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19449553 19449554 rs575592156 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449562 19449563 rs543027529 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449565 19449566 rs188277714 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19449571 19449572 rs765231364 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449598 19449599 rs750342139 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449652 19449653 rs564761506 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19449653 19449654 rs158032 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.498774 0.02473 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2380.000000,2628.000000, 0.475240,0.524760, maf-5-some-pop,maf-5-all-pops 733 chr21 19449687 19449688 rs866558354 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19449688 19449689 rs191451456 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19449700 19449701 rs114882531 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19449735 19449736 rs74489822 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.090169 0.192235 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4771.000000,237.000000, 0.952676,0.047324, maf-5-some-pop 733 chr21 19449777 19449778 rs751083666 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449783 19449784 rs754581246 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449784 19449785 rs560930536 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19449794 19449795 rs144528823 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19449853 19449854 rs139789235 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19449887 19449888 rs190458304 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19449946 19449947 rs753038376 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19449948 19449949 rs530454731 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19449967 19449968 rs145271766 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19449971 19449972 rs566894076 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19449994 19449995 rs377731325 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19449999 19450000 rs147564051 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19450019 19450020 rs778143761 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450021 19450022 rs141999738 0 + T T C/G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19450027 19450028 rs181705448 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19450038 19450039 rs531268296 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19450044 19450045 rs778794277 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450045 19450046 rs142058327 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450077 19450078 rs557008842 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450086 19450087 rs8132948 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009938 0.069826 intron exact 1 SingleClassTriAllelic 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WI_SSAHASNP, 3 A,C,T, 2.000000,4983.000000,23.000000, 0.000399,0.995008,0.004593, 733 chr21 19450115 19450116 rs370205502 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19450120 19450121 rs189089781 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450127 19450128 rs772175099 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450142 19450143 rs569798673 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19450188 19450189 rs759391945 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19450276 19450277 rs158033 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.384976 0.210431 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1303.000000,3705.000000, 0.260184,0.739816, maf-5-some-pop 733 chr21 19450305 19450306 rs747261923 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450331 19450332 rs540736481 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19450371 19450372 rs565374838 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450409 19450410 rs773150447 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450424 19450425 rs762731014 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450430 19450431 rs151176341 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19450436 19450437 rs158034 0 + G G A/G genomic single by-frequency,by-hapmap,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,KWOK,SC_JCM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19450441 19450442 rs752699292 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19450444 19450445 rs773721338 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450455 19450456 rs158035 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.33533 0.234987 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3941.000000,1067.000000, 0.786941,0.213059, maf-5-some-pop 733 chr21 19450456 19450457 rs374126683 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19450468 19450469 rs140160886 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19450475 19450476 rs548439839 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450517 19450518 rs560559631 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450531 19450532 rs185473160 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19450538 19450539 rs189554945 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450539 19450540 rs755787589 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450553 19450554 rs150462623 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 733 chr21 19450560 19450561 rs371949922 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19450582 19450583 rs550774106 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450592 19450593 rs568926593 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19450595 19450596 rs138376580 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19450604 19450605 rs754237606 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450639 19450640 rs756983936 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19450640 19450641 rs141440607 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19450670 19450671 rs573324401 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19450704 19450705 rs745917073 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450791 19450792 rs111246939 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 9 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,G, 72.000000,4936.000000, 0.014377,0.985623, 733 chr21 19450793 19450794 rs558817116 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19450798 19450799 rs577244237 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450825 19450826 rs182633093 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450844 19450845 rs556731935 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19450853 19450855 rs776403849 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450856 19450857 rs76990754 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 72.000000,4936.000000, 0.014377,0.985623, maf-5-some-pop 733 chr21 19450866 19450867 rs166960 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.385932 0.209815 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1308.000000,3700.000000, 0.261182,0.738818, maf-5-some-pop 733 chr21 19450873 19450874 rs560404641 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450929 19450930 rs576102178 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19450937 19450938 rs747167968 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19450962 19450963 rs545103472 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19450978 19450979 rs528110487 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19450982 19450983 rs145185039 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19450996 19450997 rs187258288 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19451056 19451057 rs532252007 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19451123 19451124 rs115738281 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19451129 19451130 rs7281686 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.015061 0.08546 intron exact 1 4 1000GENOMES,BCM_SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 733 chr21 19451160 19451161 rs112279481 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19451185 19451186 rs748656979 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19451192 19451193 rs73310424 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.115088 0.210473 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4701.000000,307.000000, 0.938698,0.061302, maf-5-some-pop 733 chr21 19451201 19451202 rs566754861 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19451210 19451211 rs770102081 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19451211 19451212 rs770752390 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451218 19451218 rs764844424 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451229 19451230 rs144670589 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19451256 19451257 rs191890319 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19451260 19451260 rs35496554 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19451270 19451271 rs158014 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.39214 0.20566 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3667.000000,1341.000000, 0.732228,0.267772, maf-5-some-pop 733 chr21 19451275 19451276 rs570721247 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19451305 19451306 rs158015 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392325 0.205532 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1342.000000,3666.000000, 0.267971,0.732029, maf-5-some-pop 733 chr21 19451309 19451310 rs184188892 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19451387 19451388 rs774996725 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451402 19451403 rs574133328 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19451404 19451405 rs529674024 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19451420 19451421 rs574737479 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19451467 19451468 rs187494498 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19451491 19451492 rs73310427 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036066 0.129354 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 92.000000,4916.000000, 0.018371,0.981629, maf-5-some-pop 733 chr21 19451500 19451501 rs370817073 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19451505 19451506 rs158016 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392325 0.205532 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1342.000000,3666.000000, 0.267971,0.732029, maf-5-some-pop 733 chr21 19451569 19451570 rs546146555 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19451614 19451615 rs190822971 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19451654 19451655 rs563292702 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19451655 19451656 rs148117353 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19451656 19451657 rs544342727 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19451662 19451663 rs562563083 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19451678 19451680 rs750024594 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451680 19451680 rs779583688 0 + - - -/TA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451682 19451683 rs754143975 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451737 19451738 rs369067261 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19451768 19451769 rs774560119 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 733 chr21 19451774 19451774 rs532196141 0 + - - -/TA genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 733 chr21 19451800 19451801 rs182507509 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19451828 19451829 rs13050057 0 + T T C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 T, 376.000000, 1.000000, 733 chr21 19451841 19451842 rs762290874 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451845 19451846 rs141877265 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 G,T, 47.000000,4961.000000, 0.009385,0.990615, 733 chr21 19451860 19451861 rs13050075 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19451861 19451862 rs566640823 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19451877 19451878 rs13046983 0 + A A A/T genomic single by-frequency,by-hapmap 0.009709 0.068993 intron exact 1 1 SSAHASNP, 2 A,T, 408.000000,2.000000, 0.995122,0.004878, 733 chr21 19451900 19451901 rs527597136 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19451905 19451906 rs765548010 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451916 19451917 rs552146682 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19451926 19451926 rs765753074 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19451935 19451936 rs78831767 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19451944 19451945 rs368725743 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19451985 19451986 rs205703 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.393065 0.205018 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1346.000000,3662.000000, 0.268770,0.731230, maf-5-some-pop 733 chr21 19451992 19451993 rs187221648 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19452039 19452040 rs571811279 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19452044 19452045 rs556274882 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19452073 19452074 rs369427787 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19452075 19452076 rs568195169 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19452085 19452086 rs535527926 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19452087 19452088 rs758985228 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452095 19452096 rs867187666 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 ILLUMINA,WEILL_CORNELL_DGM, 0 733 chr21 19452096 19452096 rs750241312 0 + - - lengthTooLong genomic in-del by-cluster 0 0 intron between 1 ObservedTooLong 2 DDI,EVA_GENOME_DK, 0 733 chr21 19452126 19452127 rs74426998 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4955.000000,53.000000, 0.989417,0.010583, 733 chr21 19452127 19452127 rs71189581 0 + - - lengthTooLong genomic in-del unknown 0 0 intron between 1 ObservedTooLong,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 TTCACAATAGCAAAATAATAGAATTTGCTATA, 2.000000, 1.000000, 733 chr21 19452144 19452145 rs158615 0 + A A A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,KWOK,WEILL_CORNELL_DGM, 2 A,G, 4931.000000,77.000000, 0.984625,0.015375, rs-cluster-nonoverlapping-alleles 733 chr21 19452145 19452145 rs776087418 0 + - - lengthTooLong genomic in-del unknown 0 0 intron between 1 ObservedTooLong 1 EVA_GENOME_DK, 0 733 chr21 19452175 19452176 rs540132359 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19452240 19452241 rs751755410 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452262 19452263 rs558165436 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19452276 19452277 rs576815560 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19452278 19452279 rs755438970 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452299 19452300 rs543844088 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19452317 19452318 rs781526273 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452325 19452326 rs749004850 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452345 19452346 rs376474658 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19452352 19452353 rs770720423 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452469 19452470 rs530691555 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19452474 19452475 rs778595836 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452482 19452483 rs541911147 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19452491 19452492 rs560396935 0 + T T A/C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19452527 19452528 rs772003023 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452563 19452564 rs527446995 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19452564 19452565 rs774980429 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452580 19452581 rs192602608 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19452605 19452609 rs776172087 0 + TGTT TGTT -/TGTT genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 733 chr21 19452650 19452651 rs760238827 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452664 19452665 rs564215791 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19452675 19452676 rs768279848 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452695 19452696 rs776389511 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452708 19452709 rs761390689 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452744 19452745 rs158017 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.392696 0.205275 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3664.000000,1344.000000, 0.731629,0.268371, maf-5-some-pop 733 chr21 19452765 19452766 rs184441850 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19452813 19452814 rs568081494 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19452852 19452853 rs750754858 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452883 19452884 rs187988190 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19452922 19452923 rs763546974 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19452930 19452931 rs547442334 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19452945 19452946 rs566312015 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19452953 19452954 rs377700505 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19452964 19452965 rs116117649 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19452983 19452984 rs567829010 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453026 19453027 rs369869929 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19453031 19453032 rs576637378 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19453151 19453152 rs78809120 0 + C C C/T genomic single by-frequency 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 733 chr21 19453175 19453176 rs537709306 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19453222 19453223 rs763776060 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19453299 19453300 rs556208737 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19453343 19453344 rs574442734 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19453417 19453418 rs751665797 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453435 19453436 rs755147358 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453445 19453446 rs139622451 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19453446 19453447 rs150142 0 - G G A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.402982 0.197728 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 1401.000000,3607.000000, 0.279752,0.720248, maf-5-some-pop,genotype-conflict 733 chr21 19453454 19453455 rs572244880 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19453481 19453482 rs143616156 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19453494 19453495 rs564279229 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19453508 19453509 rs73198543 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 intron exact 1 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 73.000000,4935.000000, 0.014577,0.985423, 733 chr21 19453573 19453574 rs139610343 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19453575 19453576 rs549624617 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19453606 19453607 rs561751666 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19453628 19453629 rs778704861 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453706 19453707 rs745732521 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453712 19453713 rs373502417 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19453720 19453721 rs771986846 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453722 19453723 rs529248423 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19453725 19453726 rs193078804 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19453726 19453727 rs376976410 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19453730 19453731 rs780020372 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453808 19453809 rs566028447 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19453824 19453825 rs746496246 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453836 19453837 rs540049820 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19453853 19453854 rs551701313 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19453868 19453869 rs111620753 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 7 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4944.000000,64.000000, 0.987220,0.012780, 733 chr21 19453872 19453873 rs776014488 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453875 19453876 rs538735708 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19453887 19453888 rs150143 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.332106 0.236133 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3955.000000,1053.000000, 0.789736,0.210264, maf-5-some-pop 733 chr21 19453912 19453913 rs769397373 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19453929 19453930 rs374573346 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19453930 19453931 rs148430676 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 733 chr21 19453937 19453938 rs866747454 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19453952 19453953 rs7279561 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.030665 0.119967 intron exact 1 14 1000GENOMES,BCM_SSAHASNP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 78.000000,4930.000000, 0.015575,0.984425, 733 chr21 19453976 19453977 rs540899322 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19453984 19453985 rs547043995 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19453989 19453990 rs370659363 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19454004 19454005 rs115375812 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 733 chr21 19454005 19454005 rs796374985 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 733 chr21 19454006 19454007 rs79124577 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 733 chr21 19454010 19454011 rs185865383 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19454019 19454020 rs117001890 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.347032 0.230401 intron exact 1 MixedObserved 4 1000GENOMES,BL,GMI,WEILL_CORNELL_DGM, 2 A,G, 1119.000000,3889.000000, 0.223442,0.776558, maf-5-some-pop 733 chr21 19454019 19454019 rs34292856 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 733 chr21 19454020 19454021 rs117299611 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.347032 0.230401 intron exact 1 4 1000GENOMES,BL,GMI,WEILL_CORNELL_DGM, 2 A,G, 3889.000000,1119.000000, 0.776558,0.223442, maf-5-some-pop 733 chr21 19454021 19454022 rs35471919 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 3 1000GENOMES,EVA_DECODE,LUNTER, 0 733 chr21 19454021 19454022 rs116075690 0 + G G A/G genomic single by-frequency,by-1000genomes 0.347032 0.230401 intron exact 1 MixedObserved 3 1000GENOMES,BL,GMI, 2 A,G, 1119.000000,3889.000000, 0.223442,0.776558, maf-5-some-pop 733 chr21 19454022 19454022 rs376722385 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 733 chr21 19454023 19454024 rs397867880 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19454024 19454025 rs199858385 0 + T T -/T genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19454035 19454036 rs188743110 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454060 19454061 rs181570049 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19454081 19454082 rs374322349 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19454128 19454129 rs561640243 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454130 19454131 rs529285220 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19454136 19454137 rs541007943 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454160 19454161 rs183854970 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19454168 19454169 rs146450864 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454228 19454229 rs141374151 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19454278 19454279 rs570156653 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19454285 19454286 rs766961371 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19454285 19454287 rs781720312 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19454300 19454301 rs774959475 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19454301 19454302 rs753150887 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19454305 19454306 rs550885234 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19454366 19454367 rs531123205 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454406 19454407 rs549737224 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454419 19454420 rs567944661 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19454428 19454429 rs554761180 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19454429 19454430 rs368419301 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19454436 19454437 rs535470708 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19454437 19454438 rs553504415 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454460 19454461 rs112090185 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19454481 19454482 rs565631844 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19454498 19454499 rs118119333 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4965.000000,43.000000, 0.991414,0.008586, 733 chr21 19454509 19454510 rs158018 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.335101 0.23507 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3942.000000,1066.000000, 0.787141,0.212859, maf-5-some-pop 733 chr21 19454511 19454512 rs563266401 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19454521 19454527 rs75109353 0 + CCTCTT CCTCTT -/CCTCTT genomic deletion by-cluster 0 0 intron range 1 1 GMI, 0 733 chr21 19454524 19454525 rs188630249 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454601 19454602 rs59084846 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,HGSV, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19454646 19454647 rs573617902 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19454650 19454651 rs570670911 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19454669 19454670 rs185888459 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19454700 19454701 rs533308732 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19454758 19454758 rs34551859 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.250168 0.25 intron between 1 18 1000GENOMES,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 734.000000,4274.000000, 0.146565,0.853435, maf-5-some-pop 733 chr21 19454759 19454759 rs397866906 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19454804 19454805 rs158612 0 - C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.390277 0.206936 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 1331.000000,3677.000000, 0.265775,0.734225, maf-5-some-pop 733 chr21 19454864 19454865 rs563792084 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19454881 19454882 rs531163439 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19454905 19454906 rs549576380 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19454942 19454943 rs559220088 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19454952 19454953 rs780746217 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19454955 19454956 rs567826991 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19454983 19454984 rs145097724 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19455004 19455005 rs146888914 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 733 chr21 19455045 19455046 rs769464211 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455059 19455060 rs565587555 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19455062 19455063 rs140585408 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19455065 19455066 rs773037831 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455082 19455083 rs551223055 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455083 19455084 rs569393009 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19455089 19455090 rs763673734 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19455108 19455109 rs150408241 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 733 chr21 19455146 19455147 rs771372962 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455179 19455180 rs774869722 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455234 19455235 rs62215369 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19455236 19455237 rs76314035 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19455276 19455277 rs191192078 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455294 19455295 rs182097247 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19455302 19455303 rs369832137 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19455335 19455336 rs760022562 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455336 19455337 rs383996 0 - G G C/T genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 733 chr21 19455343 19455344 rs201822865 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19455351 19455352 rs138115387 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19455377 19455378 rs186449954 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455435 19455436 rs767978628 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455457 19455458 rs373580912 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19455467 19455468 rs553227022 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19455493 19455494 rs149590272 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 47.000000,4961.000000, 0.009385,0.990615, maf-5-some-pop 733 chr21 19455507 19455508 rs111731795 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.091975 0.193722 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 242.000000,4766.000000, 0.048323,0.951677, maf-5-some-pop 733 chr21 19455516 19455517 rs457520 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 733 chr21 19455523 19455524 rs563801361 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.004385 0.04664 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,T, 9.000000,4997.000000,2.000000, 0.001797,0.997804,0.000399, 733 chr21 19455567 19455568 rs543104877 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19455606 19455607 rs561469506 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19455613 19455614 rs528683064 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19455620 19455621 rs146641124 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 733 chr21 19455629 19455630 rs565559283 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455634 19455635 rs371418362 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19455654 19455655 rs551380915 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19455676 19455677 rs554449825 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19455698 19455699 rs73198544 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 733 chr21 19455728 19455729 rs757479482 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455748 19455749 rs766093086 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455761 19455762 rs143656195 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 5 1000GENOMES,EVA-GONL,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 733 chr21 19455777 19455778 rs182770820 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 733 chr21 19455780 19455781 rs113833096 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.130008 0.219321 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4658.000000,350.000000, 0.930112,0.069888, maf-5-some-pop 733 chr21 19455787 19455788 rs157050 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.395818 0.203069 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SEQUENOM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3647.000000,1361.000000, 0.728235,0.271765, maf-5-some-pop 733 chr21 19455806 19455807 rs534805032 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455859 19455860 rs781038215 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19455889 19455890 rs566003394 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19455897 19455898 rs553025654 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455898 19455899 rs577846897 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455903 19455904 rs538528214 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455904 19455905 rs557401734 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19455958 19455959 rs575663481 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19455968 19455969 rs543191869 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19455972 19455973 rs190488251 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19455994 19455995 rs183096650 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19455995 19455996 rs540802268 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19456017 19456018 rs565310734 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19456018 19456019 rs187069451 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19456046 19456047 rs761610834 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19456125 19456126 rs116992152 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 733 chr21 19456151 19456152 rs748891200 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456153 19456154 rs371031892 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19456156 19456157 rs770712699 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456215 19456216 rs774853281 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456243 19456244 rs778173687 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456248 19456249 rs746278296 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456284 19456285 rs191100072 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19456299 19456300 rs141298939 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19456312 19456313 rs762613602 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19456313 19456314 rs150721413 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, maf-5-some-pop 733 chr21 19456346 19456347 rs183422595 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19456376 19456377 rs139061306 0 + G G G/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 G,T, 4981.000000,27.000000, 0.994609,0.005391, 733 chr21 19456405 19456406 rs761279655 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456455 19456456 rs116754738 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19456481 19456482 rs571320392 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456509 19456510 rs771055760 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456529 19456530 rs458346 0 + C C A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SC_JCM, 1 C, 420.000000, 1.000000, 733 chr21 19456560 19456561 rs538928016 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456610 19456610 rs71318123 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.34146 0.23267 intron between 1 11 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, 2 -,T, 3914.000000,1094.000000, 0.781550,0.218450, maf-5-some-pop 733 chr21 19456611 19456612 rs557290063 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19456616 19456616 rs398081478 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 BGI, 0 733 chr21 19456617 19456617 rs398121474 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 GMI, 0 733 chr21 19456640 19456641 rs768678708 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456643 19456644 rs751105911 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19456644 19456645 rs557322646 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19456707 19456708 rs569315281 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456708 19456709 rs75812776 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 733 chr21 19456724 19456725 rs369742119 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456732 19456733 rs143988827 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19456733 19456734 rs373884706 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19456759 19456760 rs751345172 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456779 19456780 rs376978822 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 733 chr21 19456797 19456798 rs759287827 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456818 19456819 rs540337422 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456822 19456823 rs778289695 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19456841 19456842 rs767374936 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456847 19456848 rs559112259 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19456873 19456874 rs79375045 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19456913 19456914 rs187579950 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456933 19456934 rs116637822 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 57.000000,4951.000000, 0.011382,0.988618, 733 chr21 19456947 19456948 rs73310430 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK, 2 C,T, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 733 chr21 19456950 19456951 rs539390282 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 733 chr21 19456957 19456958 rs756091272 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19456958 19456959 rs542193863 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456968 19456969 rs560693199 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19456969 19456970 rs157055 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.384209 0.210922 intron exact 1 16 1000GENOMES,ABI,BCM_SSAHASNP,BGI,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 3709.000000,1299.000000, 0.740615,0.259385, maf-5-some-pop 733 chr21 19456977 19456978 rs546332102 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456978 19456979 rs571467883 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19456989 19456990 rs532338374 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19456998 19456999 rs139858358 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 733 chr21 19457009 19457010 rs528127393 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19457050 19457051 rs756957818 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457058 19457059 rs192714755 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19457064 19457065 rs143815164 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19457101 19457102 rs746215818 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457106 19457107 rs555021908 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19457118 19457119 rs157054 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.402277 0.198272 intron exact 1 28 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1397.000000,3611.000000, 0.278954,0.721046, maf-5-some-pop,genotype-conflict 733 chr21 19457149 19457149 rs368266395 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 733 chr21 19457153 19457154 rs157053 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.391769 0.205917 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3669.000000,1339.000000, 0.732628,0.267372, maf-5-some-pop 733 chr21 19457165 19457166 rs747404323 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457189 19457190 rs558776654 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457195 19457196 rs184541862 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA-GONL,MPI_MOLGEN, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19457213 19457214 rs769214493 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457237 19457238 rs1735262 0 - A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.335559 0.234904 intron exact 1 MixedObserved 5 1000GENOMES,BCM-HGSC-SUB,GMI,SC_JCM,WUGSC_SSAHASNP, 2 A,T, 1068.000000,3940.000000, 0.213259,0.786741, maf-5-some-pop 733 chr21 19457237 19457243 rs71189582 0 + AGTGTG AGTGTG -/AGTGTG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved,SingleAlleleFreq 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER, 1 -, 2.000000, 1.000000, 733 chr21 19457237 19457238 rs374138914 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 733 chr21 19457237 19457255 rs768548149 0 + AGTGTGTGTGTGTGTGTG AGTGTGTGTGTGTGTGTG -/AGTGTGTGTGTGTGTGTG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457237 19457237 rs751026723 0 + - - -/AGTG genomic insertion unknown 0 0 intron between 1 MixedObserved 1 DDI, 0 733 chr21 19457238 19457240 rs781670541 0 + GT GT -/GT genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 733 chr21 19457238 19457238 rs376876845 0 + - - -/GTGT genomic insertion unknown 0 0 intron between 1 1 BILGI_BIOE, 0 733 chr21 19457245 19457245 rs201824627 0 + - - -/TGTGTGTGTA genomic insertion by-cluster,by-frequency,by-1000genomes 0.106278 0.204558 intron between 1 1 1000GENOMES, 2 -,TGTGTGTGTA, 4726.000000,282.000000, 0.943690,0.056310, maf-5-some-pop 733 chr21 19457254 19457255 rs77119391 0 + G G A/G genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19457261 19457262 rs556466559 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457307 19457308 rs191970040 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19457350 19457351 rs570048841 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457364 19457365 rs560948977 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457378 19457378 rs532679470 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19457398 19457399 rs572747284 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19457532 19457533 rs184255044 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19457546 19457547 rs377708108 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19457609 19457610 rs761927156 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457637 19457638 rs769970746 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457680 19457681 rs564815196 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457724 19457725 rs189066693 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19457727 19457728 rs205706 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.405081 0.196086 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3595.000000,1413.000000, 0.717851,0.282149, maf-5-some-pop 733 chr21 19457738 19457739 rs146838210 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 G,T, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19457742 19457743 rs767158836 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457781 19457782 rs376210176 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19457801 19457802 rs530028974 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457838 19457839 rs548134849 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19457839 19457840 rs566902692 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457934 19457935 rs760685595 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457947 19457948 rs764186670 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19457948 19457949 rs533929124 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19457983 19457984 rs76621664 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 57.000000,4951.000000, 0.011382,0.988618, 733 chr21 19457997 19457998 rs753377736 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19458010 19458011 rs570833662 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19458036 19458037 rs756869805 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19458063 19458064 rs778600937 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19458070 19458071 rs749998362 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19458075 19458076 rs149007266 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19458083 19458084 rs370839450 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 733 chr21 19458133 19458134 rs780273550 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19458162 19458163 rs1735307 0 - A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.395818 0.203069 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 1361.000000,3647.000000, 0.271765,0.728235, maf-5-some-pop 733 chr21 19458167 19458168 rs1664701 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.395818 0.203069 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3647.000000,1361.000000, 0.728235,0.271765, maf-5-some-pop 733 chr21 19458180 19458181 rs554161023 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19458212 19458213 rs572831034 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19458222 19458223 rs539826168 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19458266 19458267 rs776563796 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19458279 19458280 rs781692411 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19458383 19458384 rs3984977 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 733 chr21 19458383 19458385 rs58421811 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HGSV, 0 733 chr21 19458383 19458383 rs869074310 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 TSC-CSHL, 0 733 chr21 19458384 19458385 rs13049209 0 + T T C/T genomic single by-hapmap 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 1 SSAHASNP, 1 T, 418.000000, 1.000000, 733 chr21 19458384 19458385 rs373561710 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 733 chr21 19458385 19458385 rs869062629 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HUMANGENOME_JCVI, 0 733 chr21 19458410 19458411 rs564870822 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19458428 19458429 rs58259947 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 HGSV,PJP, 0 733 chr21 19458443 19458445 rs148376601 0 + TT TT -/TT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 4 1000GENOMES,EVA-GONL,LUNTER,TISHKOFF, 0 733 chr21 19458452 19458453 rs3859707 0 + T T G/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 T, 420.000000, 1.000000, 733 chr21 19458473 19458474 rs577031034 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19458478 19458479 rs181247751 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19458480 19458481 rs185433 0 + T T G/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 3 KWOK,SC_JCM,TSC-CSHL, 1 T, 414.000000, 1.000000, 733 chr21 19458512 19458513 rs544286511 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19458521 19458522 rs2736255 0 - T T A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 2 SC_JCM,TSC-CSHL, 1 A, 408.000000, 1.000000, 733 chr21 19458564 19458565 rs748679206 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19458566 19458567 rs546190985 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19458613 19458614 rs796760550 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 733 chr21 19458623 19458624 rs143794779 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19458629 19458630 rs374799068 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19458638 19458639 rs529908642 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19458728 19458729 rs151113139 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19458747 19458748 rs185075873 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19458752 19458753 rs557212222 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19458755 19458756 rs527710872 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19458762 19458763 rs140739110 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,C, 50.000000,4958.000000, 0.009984,0.990016, 733 chr21 19458792 19458793 rs769580833 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19458819 19458820 rs552310063 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19458859 19458860 rs773037297 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19458880 19458881 rs552294149 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19458915 19458916 rs140961877 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19458930 19458931 rs188987181 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19458939 19458940 rs549816902 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19458941 19458942 rs146323225 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19458945 19458946 rs535657230 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19458972 19458973 rs372050611 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19458984 19458985 rs139175603 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19458991 19458992 rs539724588 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19459039 19459040 rs180942424 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19459078 19459079 rs157052 0 - C C G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.391954 0.205789 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3668.000000,1340.000000, 0.732428,0.267572, maf-5-some-pop 733 chr21 19459089 19459090 rs764098886 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459110 19459111 rs558275515 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19459130 19459131 rs79538236 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 48.000000,4960.000000, 0.009585,0.990415, 733 chr21 19459132 19459133 rs544373134 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19459135 19459136 rs556287689 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19459144 19459145 rs574721896 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19459147 19459148 rs541639087 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19459202 19459203 rs77482941 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4945.000000,63.000000, 0.987420,0.012580, maf-5-some-pop 733 chr21 19459207 19459208 rs143081707 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19459212 19459213 rs546038740 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19459214 19459215 rs204010 0 + A A A/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19459237 19459238 rs145966189 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19459293 19459294 rs1664703 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.395818 0.203069 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1361.000000,3647.000000, 0.271765,0.728235, maf-5-some-pop 733 chr21 19459296 19459297 rs1664704 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.385168 0.210309 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1304.000000,3704.000000, 0.260383,0.739617, maf-5-some-pop 733 chr21 19459302 19459303 rs529358392 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19459333 19459334 rs547686919 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19459382 19459383 rs766098962 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459412 19459413 rs157051 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.38555 0.210062 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3702.000000,1306.000000, 0.739217,0.260783, maf-5-some-pop 733 chr21 19459449 19459450 rs373534041 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,SSMP, 0 733 chr21 19459475 19459476 rs755289183 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459516 19459517 rs74497100 0 + G G C/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19459536 19459537 rs781569839 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459553 19459554 rs539745538 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19459606 19459607 rs204009 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 3 KWOK,SC_JCM,TSC-CSHL, 1 C, 412.000000, 1.000000, 733 chr21 19459613 19459614 rs558484025 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19459617 19459618 rs748589311 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459623 19459624 rs756627887 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459627 19459628 rs116318125 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4851.000000,157.000000, 0.968650,0.031350, maf-5-some-pop 733 chr21 19459697 19459698 rs79347068 0 + A A A/C genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,C, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19459706 19459707 rs757756697 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19459709 19459710 rs556324550 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19459713 19459714 rs574471743 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19459729 19459730 rs186332160 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19459745 19459746 rs77823130 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 733 chr21 19459747 19459748 rs771026495 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459760 19459761 rs774680884 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459780 19459781 rs566190086 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,SSIP, 0 733 chr21 19459783 19459784 rs138565578 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19459784 19459785 rs746112748 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459809 19459810 rs768528985 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459824 19459825 rs545825361 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19459825 19459826 rs776568343 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459852 19459865 rs573413315 0 + TGTCCTAGATATA TGTCCTAGATATA -/TGTCCTAGATATA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,TGTCCTAGATATA, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19459865 19459866 rs564023081 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19459919 19459920 rs761779648 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19459942 19459943 rs539124664 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19459945 19459946 rs149295287 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19460036 19460037 rs543432238 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19460072 19460073 rs772568829 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460079 19460080 rs866215858 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19460084 19460085 rs762575304 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460129 19460130 rs191133402 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19460227 19460228 rs758681661 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19460276 19460277 rs765830822 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460277 19460278 rs204008 0 + G G C/G/T genomic single by-frequency,by-hapmap,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,KWOK,SC_JCM, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19460278 19460279 rs547821476 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19460280 19460281 rs566186382 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19460294 19460295 rs144651809 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 733 chr21 19460313 19460314 rs552139974 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19460314 19460315 rs148055359 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19460362 19460363 rs537713645 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19460408 19460409 rs75640903 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,G, 34.000000,4974.000000, 0.006789,0.993211, 733 chr21 19460410 19460411 rs375983033 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19460420 19460421 rs755045396 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19460435 19460436 rs552842968 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19460440 19460441 rs113525015 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19460441 19460442 rs568009526 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19460465 19460466 rs753118098 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460468 19460469 rs756574361 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460475 19460476 rs778383779 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460483 19460484 rs535203245 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19460493 19460494 rs553829213 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19460510 19460511 rs748094485 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19460511 19460512 rs145930236 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19460518 19460519 rs757310747 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460523 19460524 rs779163062 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460576 19460577 rs73310434 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK, 2 C,T, 4913.000000,95.000000, 0.981030,0.018970, maf-5-some-pop 733 chr21 19460630 19460631 rs114510708 0 + G G G/T genomic single by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 G,T, 4973.000000,35.000000, 0.993011,0.006989, 733 chr21 19460633 19460634 rs772984134 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19460654 19460655 rs772432720 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460655 19460656 rs781133753 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460681 19460682 rs747999953 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460806 19460807 rs34642652 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19460812 19460813 rs575946108 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19460815 19460816 rs182015793 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19460927 19460928 rs769600099 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19460952 19460953 rs561747485 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19460968 19460968 rs35110435 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19461024 19461025 rs573972139 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19461027 19461028 rs541204320 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19461081 19461082 rs868806020 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19461082 19461083 rs186042834 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19461128 19461129 rs528516667 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19461137 19461138 rs773955741 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19461150 19461151 rs773155280 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19461180 19461181 rs762831543 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19461196 19461197 rs192066218 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19461201 19461202 rs552027648 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19461247 19461248 rs563839131 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19461248 19461249 rs371063982 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA-GONL,SSMP, 0 733 chr21 19461256 19461257 rs182777945 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19461259 19461260 rs204007 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19461317 19461318 rs773865540 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19461385 19461386 rs139876546 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19461387 19461388 rs143218844 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19461433 19461434 rs547203384 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19461469 19461470 rs565788550 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19461484 19461485 rs150879822 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19461500 19461501 rs150347 0 + A A A/G genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 intron exact 1 MixedObserved 28 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19461500 19461503 rs386816729 0 + AAT AAT AAT/GAC genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19461502 19461503 rs158036 0 - T T A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.396182 0.202807 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 20 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3645.000000,1363.000000, 0.727835,0.272165, maf-5-some-pop 733 chr21 19461504 19461505 rs537568155 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19461534 19461535 rs186580771 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19461536 19461537 rs555623997 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19461537 19461538 rs376345551 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19461575 19461576 rs190637200 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19461611 19461612 rs182271583 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19461626 19461627 rs764386107 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19461629 19461630 rs578156699 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19461643 19461644 rs774905742 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19461657 19461658 rs535213700 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19461667 19461668 rs865881283 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19461671 19461672 rs367667306 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19461675 19461676 rs796220288 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19461741 19461743 rs772934629 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19461768 19461769 rs158037 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.334412 0.235318 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1063.000000,3945.000000, 0.212260,0.787740, maf-5-some-pop 733 chr21 19461824 19461825 rs570669946 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19461843 19461844 rs139378340 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19461845 19461846 rs563876245 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19461859 19461860 rs868358265 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19461917 19461918 rs531125057 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19461956 19461957 rs757705844 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19461962 19461963 rs779075112 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19461987 19461988 rs377058536 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19461999 19462000 rs549737562 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19462036 19462037 rs150034999 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19462060 19462061 rs528751608 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19462071 19462076 rs144597144 0 + ACAAC ACAAC -/ACAAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.094137 0.195465 intron range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,ACAAC, 248.000000,4760.000000, 0.049521,0.950479, maf-5-some-pop 733 chr21 19462072 19462077 rs67604417 0 + CAACA CAACA -/CAACA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19462076 19462077 rs554740227 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19462089 19462090 rs539343713 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462110 19462111 rs375049715 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19462119 19462120 rs780477216 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462122 19462123 rs565497322 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462130 19462131 rs158038 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.334182 0.235401 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 3946.000000,1062.000000, 0.787939,0.212061, maf-5-some-pop 733 chr21 19462148 19462149 rs551055899 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19462153 19462154 rs569553297 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19462162 19462163 rs758769409 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462213 19462214 rs769594994 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462217 19462218 rs154748 0 - C C G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.4944 0.052618 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 2769.000000,2239.000000, 0.552915,0.447085, maf-5-some-pop,maf-5-all-pops 733 chr21 19462260 19462261 rs751754659 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19462300 19462301 rs749192677 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462336 19462337 rs375503772 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19462343 19462344 rs75625061 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4956.000000,52.000000, 0.989617,0.010383, 733 chr21 19462371 19462372 rs751619924 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19462402 19462403 rs186752287 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19462429 19462430 rs770832317 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462449 19462450 rs567575492 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 733 chr21 19462479 19462480 rs142622221 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 733 chr21 19462484 19462485 rs34240499 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19462522 19462523 rs192427434 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19462529 19462530 rs535467916 0 + A A A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462559 19462560 rs545566589 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462588 19462589 rs554958613 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19462590 19462591 rs759086171 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462599 19462600 rs285946 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.334412 0.235318 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1063.000000,3945.000000, 0.212260,0.787740, maf-5-some-pop 733 chr21 19462645 19462646 rs748240370 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19462654 19462655 rs575944844 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19462655 19462656 rs183423252 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19462685 19462686 rs75502184 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4961.000000,47.000000, 0.990615,0.009385, 733 chr21 19462694 19462695 rs528789509 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462717 19462718 rs540522879 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19462780 19462781 rs188369935 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462800 19462801 rs193159142 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462811 19462812 rs551092535 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462816 19462817 rs569386995 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19462826 19462826 rs777625543 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 733 chr21 19462828 19462829 rs562662092 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19462845 19462846 rs144632519 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19462912 19462913 rs754164452 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19462954 19462955 rs549178280 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19462975 19462976 rs372213140 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19462986 19462986 rs374499002 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 733 chr21 19462992 19462993 rs567311000 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463042 19463048 rs768163648 0 + AGAAAA AGAAAA -/AGAAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463043 19463048 rs768338309 0 + GAAAA GAAAA -/GAAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463044 19463050 rs5842674 0 + AAAAAA AAAAAA -/AAAAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.495708 0.046127 intron range 1 MixedObserved 3 1000GENOMES,GMI,HAMMER_LAB, 2 -,AAAAAA, 2736.000000,2272.000000, 0.546326,0.453674, maf-5-some-pop,maf-5-all-pops 733 chr21 19463044 19463051 rs756552994 0 + AAAAAAA AAAAAAA -/AAAAAAA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463045 19463051 rs773628646 0 + AAAAAA AAAAAA -/AAAAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463046 19463051 rs771445005 0 + AAAAA AAAAA -/AAAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463057 19463058 rs75361701 0 + A A A/C genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 733 chr21 19463058 19463059 rs79993278 0 + A A A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic,SingleAlleleFreq 2 ENSEMBL,WEILL_CORNELL_DGM, 1 T, 2.000000, 1.000000, 733 chr21 19463064 19463064 rs71189584 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 HUMANGENOME_JCVI,PJP, 0 733 chr21 19463076 19463077 rs534922364 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463126 19463127 rs375536349 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463133 19463134 rs147864581 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 733 chr21 19463170 19463171 rs765888620 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463171 19463172 rs539020919 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463179 19463180 rs758506847 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463189 19463190 rs112616843 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.09701 0.197722 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4752.000000,256.000000, 0.948882,0.051118, maf-5-some-pop 733 chr21 19463191 19463192 rs575823840 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19463225 19463226 rs141656741 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463244 19463245 rs555146475 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463299 19463300 rs770668225 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19463324 19463325 rs573351352 0 + G G A/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19463326 19463327 rs777612090 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463352 19463353 rs540960077 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463382 19463383 rs565219644 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463394 19463395 rs147072991 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,GMI, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19463405 19463406 rs544628918 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19463418 19463419 rs562913030 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463444 19463445 rs530640867 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19463472 19463473 rs548759138 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19463585 19463586 rs148112752 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19463589 19463590 rs528266410 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463597 19463598 rs757154884 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463598 19463599 rs546907930 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463600 19463601 rs778869492 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463611 19463611 rs35481502 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19463614 19463615 rs140329647 0 + G G A/G genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 733 chr21 19463623 19463624 rs184587508 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19463640 19463641 rs189916566 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19463672 19463673 rs569226709 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,PADH-LAB_SPU, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463673 19463674 rs111367230 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 733 chr21 19463691 19463692 rs746612248 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463692 19463693 rs150346521 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463719 19463720 rs112177966 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19463720 19463721 rs573416236 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463721 19463722 rs138097043 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 733 chr21 19463729 19463730 rs75645870 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.129664 0.219133 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4659.000000,349.000000, 0.930312,0.069688, maf-5-some-pop 733 chr21 19463743 19463744 rs866143696 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19463766 19463767 rs154749 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497359 0.036246 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2322.000000,2686.000000, 0.463658,0.536342, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19463779 19463780 rs544465168 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463804 19463805 rs765723190 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463821 19463822 rs548576972 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463836 19463837 rs191327162 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19463842 19463843 rs763561423 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463853 19463854 rs766510640 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463855 19463856 rs751650719 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463874 19463875 rs73310436 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,T, 4924.000000,84.000000, 0.983227,0.016773, maf-5-some-pop 733 chr21 19463909 19463910 rs547682088 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19463911 19463912 rs142639576 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19463942 19463943 rs755223483 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463944 19463945 rs560805503 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463954 19463955 rs145940141 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19463958 19463959 rs111563668 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.096652 0.197444 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4753.000000,255.000000, 0.949081,0.050919, maf-5-some-pop 733 chr21 19463962 19463963 rs565032872 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19463963 19463964 rs753645180 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19463994 19463995 rs532450485 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19463998 19464001 rs371160258 0 + ACA ACA -/ACA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 3 1000GENOMES,SSMP,TISHKOFF, 2 -,ACA, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19464005 19464006 rs550890504 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464023 19464024 rs569272074 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19464044 19464045 rs183710558 0 + T T C/T genomic single by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19464048 19464049 rs548688185 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464052 19464053 rs773814881 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19464071 19464072 rs566872476 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464094 19464095 rs763575810 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19464104 19464105 rs534267225 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19464113 19464114 rs138506505 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464136 19464137 rs118076294 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19464137 19464138 rs538196048 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464143 19464144 rs112923562 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19464156 19464157 rs575230825 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19464170 19464171 rs759795924 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19464179 19464180 rs569753656 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19464201 19464202 rs767688010 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19464211 19464212 rs542237368 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19464259 19464260 rs535570557 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19464274 19464275 rs758342396 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464275 19464276 rs551136125 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19464277 19464278 rs779600033 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464291 19464292 rs188427086 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19464294 19464295 rs570658349 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464339 19464340 rs369255529 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19464349 19464350 rs768336149 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464400 19464401 rs1688151 0 + A A A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19464432 19464433 rs181909851 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19464433 19464434 rs565121477 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19464445 19464446 rs575007434 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19464447 19464448 rs868352562 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19464459 19464460 rs756116851 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19464484 19464485 rs770220173 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464492 19464493 rs550927209 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19464493 19464494 rs534183462 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464514 19464515 rs796423613 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19464522 19464523 rs111684805 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.103438 0.202533 intron exact 1 5 1000GENOMES,BUSHMAN,EVA-GONL,LUNTER,TISHKOFF, 2 -,A, 274.000000,4734.000000, 0.054713,0.945288, maf-5-some-pop 733 chr21 19464524 19464525 rs529970280 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464542 19464543 rs773727114 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464568 19464569 rs186443433 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19464600 19464601 rs753755826 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19464610 19464611 rs566820577 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19464615 19464616 rs527785533 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464632 19464633 rs189816742 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464633 19464634 rs570752633 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19464659 19464660 rs376737442 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19464690 19464691 rs369915409 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19464691 19464692 rs546561144 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19464692 19464693 rs556466888 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19464693 19464694 rs113037622 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.09701 0.197722 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 256.000000,4752.000000, 0.051118,0.948882, maf-5-some-pop 733 chr21 19464708 19464709 rs536105281 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19464726 19464727 rs114549628 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19464735 19464736 rs182027820 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19464757 19464758 rs111763822 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.097369 0.197999 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 257.000000,4751.000000, 0.051318,0.948682, maf-5-some-pop 733 chr21 19464794 19464795 rs112965034 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19464805 19464806 rs566725306 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464815 19464816 rs558667299 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19464826 19464827 rs577136758 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19464832 19464834 rs778224956 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464854 19464856 rs757414880 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464871 19464872 rs535406320 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19464872 19464873 rs112326984 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.085819 0.188533 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 225.000000,4783.000000, 0.044928,0.955072, maf-5-some-pop 733 chr21 19464876 19464877 rs554893347 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19464906 19464907 rs562665810 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19464907 19464908 rs529957522 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19464924 19464925 rs752820657 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19464949 19464950 rs542064059 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19464951 19464952 rs374321207 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19464976 19464977 rs537331165 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19464980 19464981 rs557601183 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19465014 19465015 rs764950881 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465017 19465018 rs560333785 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465019 19465020 rs796607372 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19465035 19465036 rs144517843 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465036 19465037 rs750274305 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465038 19465039 rs148423403 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465048 19465049 rs758323899 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465065 19465066 rs142941060 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 733 chr21 19465079 19465094 rs564071583 0 + ACAAAGTCAGAGGAG ACAAAGTCAGAGGAG -/ACAAAGTCAGAGGAG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,ACAAAGTCAGAGGAG, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19465116 19465117 rs74397224 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19465118 19465119 rs779893267 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465123 19465124 rs751541508 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465131 19465132 rs150657876 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19465165 19465166 rs191336191 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465169 19465170 rs535818243 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465186 19465187 rs537536280 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19465195 19465196 rs182648165 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19465209 19465210 rs554437838 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465223 19465224 rs780760532 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465226 19465227 rs370185549 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19465244 19465245 rs557475827 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19465254 19465255 rs747747946 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465288 19465289 rs285948 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.334642 0.235236 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3944.000000,1064.000000, 0.787540,0.212460, maf-5-some-pop 733 chr21 19465298 19465299 rs867688043 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19465299 19465300 rs113196993 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.084364 0.187256 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 221.000000,4787.000000, 0.044129,0.955871, maf-5-some-pop 733 chr21 19465305 19465306 rs558556350 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465371 19465372 rs577026968 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19465372 19465373 rs544282229 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465388 19465389 rs113441014 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.073 0.176553 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4818.000000,190.000000, 0.962061,0.037939, maf-5-some-pop 733 chr21 19465442 19465443 rs285949 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.431473 0.171952 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3431.000000,1577.000000, 0.685104,0.314896, maf-5-some-pop,maf-5-all-pops 733 chr21 19465477 19465478 rs541801602 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465491 19465492 rs560381326 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19465494 19465495 rs771447931 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465515 19465516 rs185914 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.334642 0.235236 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1064.000000,3944.000000, 0.212460,0.787540, maf-5-some-pop 733 chr21 19465522 19465523 rs760120514 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465541 19465542 rs545815616 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465545 19465546 rs771976967 0 + T T C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465562 19465563 rs564106658 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465566 19465567 rs374963172 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19465596 19465597 rs531694418 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465645 19465646 rs550244297 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465692 19465693 rs141026374 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19465716 19465717 rs533301628 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19465730 19465731 rs144886078 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465734 19465735 rs764364126 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465769 19465770 rs547801007 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465792 19465793 rs566395365 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465794 19465795 rs185039128 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19465818 19465819 rs34914291 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.334642 0.235236 intron exact 1 14 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 1064.000000,3944.000000, 0.212460,0.787540, maf-5-some-pop 733 chr21 19465819 19465820 rs397866812 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19465829 19465830 rs540102473 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465855 19465856 rs552209489 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465882 19465883 rs369491310 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19465890 19465891 rs750184199 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19465928 19465932 rs571736778 0 + TTAG TTAG -/TTAG genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TTAG, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19465946 19465947 rs570418355 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465950 19465951 rs537593197 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19465954 19465955 rs189902710 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19465988 19465989 rs147954530 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19465989 19465990 rs183078622 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466028 19466029 rs189093915 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19466037 19466038 rs172266 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.335101 0.23507 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 3942.000000,1066.000000, 0.787141,0.212859, maf-5-some-pop 733 chr21 19466058 19466069 rs772088739 0 + AAAAAATAAAA AAAAAATAAAA -/AAAAAATAAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466074 19466075 rs113986781 0 + G G A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 733 chr21 19466075 19466076 rs111765863 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 G, 1.000000, 1.000000, 733 chr21 19466130 19466131 rs78749360 0 - A A C/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 733 chr21 19466132 19466133 rs751388766 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466134 19466135 rs754959726 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466144 19466145 rs192836288 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466145 19466146 rs141594508 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19466155 19466156 rs76980320 0 - C C G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 733 chr21 19466158 19466159 rs78478305 0 - C C G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 4.000000, 1.000000, 733 chr21 19466173 19466174 rs200954142 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466204 19466205 rs183765136 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19466246 19466247 rs752323521 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466254 19466255 rs562055014 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466291 19466292 rs777618769 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466311 19466312 rs562188562 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466318 19466319 rs188495849 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19466342 19466343 rs576313322 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 -,A, 12.000000,4996.000000, 0.002396,0.997604, 733 chr21 19466346 19466347 rs547982531 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 733 chr21 19466349 19466350 rs191735541 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19466350 19466351 rs868715470 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19466354 19466355 rs533668408 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19466386 19466392 rs373093916 0 + TTATAC TTATAC -/TTATAC genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 733 chr21 19466387 19466388 rs552101422 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19466406 19466407 rs285950 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.382085 0.212258 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3720.000000,1288.000000, 0.742812,0.257188, maf-5-some-pop 733 chr21 19466466 19466467 rs746300879 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466471 19466472 rs537835591 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466487 19466488 rs772690277 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466504 19466505 rs775541030 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466506 19466507 rs564637918 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19466513 19466514 rs760780286 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466557 19466558 rs533281891 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19466636 19466637 rs285951 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.347473 0.230215 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 1121.000000,3887.000000, 0.223842,0.776158, maf-5-some-pop 733 chr21 19466745 19466746 rs568169693 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19466761 19466762 rs184324176 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19466770 19466771 rs553560798 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466832 19466833 rs566548435 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466921 19466922 rs539387122 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19466923 19466924 rs8128432 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.073 0.176553 intron exact 1 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 190.000000,4818.000000, 0.037939,0.962061, maf-5-some-pop 733 chr21 19466926 19466927 rs576386433 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19466954 19466955 rs767925283 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19466966 19466967 rs766032974 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19466991 19466992 rs543818925 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19467002 19467003 rs149978505 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467005 19467006 rs577491395 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19467008 19467009 rs188091239 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19467028 19467029 rs560036697 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467043 19467044 rs533558559 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19467054 19467055 rs55786169 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK, 2 C,T, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 733 chr21 19467060 19467061 rs35887036 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.316968 0.240864 intron exact 1 MixedObserved 3 1000GENOMES,GMI,SSMP, 2 -,A, 989.000000,4019.000000, 0.197484,0.802516, maf-5-some-pop,maf-5-all-pops 733 chr21 19467060 19467060 rs71318125 0 + - - -/AA/AAA genomic insertion by-cluster 0.5 0 intron between 1 MixedObserved,InconsistentAlleles 4 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI, 2 -,AA, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19467061 19467061 rs3984979 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 733 chr21 19467073 19467075 rs34001023 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HGSV, 0 733 chr21 19467073 19467074 rs62215390 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 BCMHGSC_JDW, 0 733 chr21 19467073 19467074 rs397867040 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 1 ABI, 1 A, 2.000000, 1.000000, 733 chr21 19467074 19467075 rs869135751 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19467075 19467075 rs397812929 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 TSC-CSHL, 0 733 chr21 19467076 19467076 rs772883242 0 + - - -/AG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467086 19467087 rs563951942 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19467131 19467132 rs369303378 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467146 19467147 rs770470590 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467147 19467148 rs373485436 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 733 chr21 19467155 19467156 rs548905563 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19467185 19467186 rs759388193 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467188 19467189 rs191453615 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19467202 19467203 rs28778682 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19467219 19467220 rs2736254 0 - T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.341685 0.232581 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 3913.000000,1095.000000, 0.781350,0.218650, maf-5-some-pop 733 chr21 19467227 19467228 rs567924825 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19467234 19467235 rs528988536 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467243 19467244 rs547079709 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19467266 19467267 rs376167655 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19467280 19467281 rs752233400 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467372 19467373 rs537484900 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19467380 19467381 rs565572150 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467397 19467398 rs145279589 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4946.000000,62.000000, 0.987620,0.012380, 733 chr21 19467402 19467403 rs557348552 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19467440 19467442 rs201896141 0 + CA CA -/CA genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 733 chr21 19467441 19467442 rs112749795 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19467441 19467443 rs142563308 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 MixedObserved 8 BL,BUSHMAN,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 0 733 chr21 19467447 19467449 rs869258210 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 TSC-CSHL, 0 733 chr21 19467448 19467449 rs3859708 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 2 GMI,TSC-CSHL, 0 733 chr21 19467448 19467451 rs368869946 0 + AAA AAA AAA/G genomic in-del by-cluster 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19467450 19467451 rs3958576 0 + A A A/G genomic single by-cluster,by-frequency 0.5 0 intron exact 1 7 BCMHGSC_JDW,BL,ENSEMBL,EVA_GENOME_DK,GMI,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 733 chr21 19467451 19467452 rs375533992 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19467456 19467457 rs557502277 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467462 19467463 rs757175123 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19467474 19467476 rs767069598 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467477 19467478 rs369427356 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19467479 19467483 rs778659403 0 + ATAA ATAA -/ATAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19467489 19467490 rs569946398 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19467490 19467491 rs763728228 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467514 19467515 rs750379391 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19467526 19467527 rs2736253 0 - G G C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.391024 0.206427 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3673.000000,1335.000000, 0.733427,0.266573, maf-5-some-pop 733 chr21 19467529 19467530 rs377698798 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19467536 19467537 rs779919666 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19467540 19467541 rs756946741 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467579 19467580 rs533653311 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19467586 19467587 rs553494612 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467618 19467619 rs541581708 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467627 19467628 rs553489799 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467646 19467647 rs578232710 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19467651 19467652 rs118020038 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.083271 0.186283 intron exact 1 11 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4790.000000,218.000000, 0.956470,0.043530, maf-5-some-pop 733 chr21 19467661 19467662 rs780583343 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467696 19467697 rs374004196 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19467713 19467714 rs542540259 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA-GONL, 0 733 chr21 19467713 19467714 rs796950266 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 HAMMER_LAB, 0 733 chr21 19467717 19467718 rs531246327 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19467722 19467723 rs376153415 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19467732 19467733 rs185416814 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 733 chr21 19467755 19467756 rs561763141 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19467770 19467771 rs747532954 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467852 19467853 rs528865623 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19467913 19467914 rs768660371 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467914 19467915 rs370534257 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19467915 19467916 rs565459164 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19467960 19467961 rs532826426 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19467966 19467967 rs776707792 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19467970 19467971 rs1688155 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.346369 0.23068 intron exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3892.000000,1116.000000, 0.777157,0.222843, maf-5-some-pop 733 chr21 19467990 19467991 rs149156301 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.057359 0.15934 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,T, 4860.000000,148.000000, 0.970447,0.029553, maf-5-some-pop 733 chr21 19468000 19468001 rs143563467 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 733 chr21 19468016 19468017 rs555366168 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19468037 19468038 rs567688122 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468041 19468042 rs534997901 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19468047 19468048 rs556130097 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19468063 19468064 rs553377297 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19468121 19468122 rs578155891 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19468143 19468144 rs374213279 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468156 19468156 rs35058329 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19468171 19468172 rs78219602 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468196 19468197 rs575747619 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468224 19468225 rs544581314 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19468226 19468226 rs35088703 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19468228 19468229 rs115162668 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 733 chr21 19468234 19468235 rs760692652 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19468270 19468271 rs1688156 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.381113 0.21286 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3725.000000,1283.000000, 0.743810,0.256190, maf-5-some-pop 733 chr21 19468285 19468286 rs141121094 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19468290 19468291 rs190714644 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468291 19468292 rs532864936 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19468297 19468298 rs551055886 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19468300 19468301 rs11911235 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.084364 0.187256 intron exact 1 9 1000GENOMES,BUSHMAN,CSHL-HAPMAP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4787.000000,221.000000, 0.955871,0.044129, maf-5-some-pop 733 chr21 19468310 19468311 rs746414271 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19468314 19468315 rs1735300 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.333722 0.235565 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1060.000000,3948.000000, 0.211661,0.788339, maf-5-some-pop 733 chr21 19468361 19468362 rs549288866 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19468371 19468372 rs1688157 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.143622 0.226238 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SEQUENOM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 390.000000,4618.000000, 0.077875,0.922125, maf-5-some-pop 733 chr21 19468425 19468426 rs534883744 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468449 19468450 rs529098641 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19468484 19468485 rs547026429 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468485 19468486 rs571622739 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19468556 19468557 rs138755883 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 733 chr21 19468615 19468616 rs557157784 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468642 19468643 rs182225243 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19468652 19468653 rs1688158 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.333952 0.235483 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3947.000000,1061.000000, 0.788139,0.211861, maf-5-some-pop 733 chr21 19468698 19468699 rs755541947 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19468699 19468700 rs555111358 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19468742 19468743 rs150292863 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.059235 0.161582 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,C, 153.000000,4855.000000, 0.030551,0.969449, maf-5-some-pop 733 chr21 19468743 19468744 rs186897205 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19468822 19468823 rs9975035 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19468838 19468839 rs8129584 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.498392 0.028309 intron exact 1 18 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2362.000000,2646.000000, 0.471645,0.528355, maf-5-some-pop,maf-5-all-pops 733 chr21 19468842 19468843 rs545125404 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19468873 19468874 rs773436099 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19468898 19468899 rs563217981 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468907 19468908 rs531523406 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19468915 19468916 rs149476269 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19468937 19468938 rs144343712 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19468951 19468952 rs140962734 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19468952 19468953 rs11911441 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.084364 0.187256 intron exact 1 11 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 221.000000,4787.000000, 0.044129,0.955871, maf-5-some-pop 733 chr21 19468974 19468975 rs546913760 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19469016 19469017 rs760675392 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469124 19469125 rs551311096 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19469126 19469127 rs189095104 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19469129 19469130 rs147543591 0 + T T C/T genomic single by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19469134 19469135 rs550923677 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469147 19469148 rs569267288 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19469169 19469173 rs761249953 0 + AAAA AAAA -/AAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469178 19469179 rs536709929 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469189 19469190 rs571164623 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19469226 19469227 rs116978035 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19469285 19469286 rs181186919 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19469295 19469296 rs761430923 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469296 19469297 rs185485310 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469315 19469316 rs558806688 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19469316 19469317 rs189557087 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19469332 19469333 rs750048562 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469336 19469337 rs762611110 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469341 19469342 rs766719602 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469367 19469368 rs544702815 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469386 19469387 rs556885021 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469460 19469461 rs180910818 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19469514 19469515 rs567035535 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469537 19469538 rs528895730 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19469545 19469546 rs187081047 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19469550 19469552 rs771524955 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 733 chr21 19469556 19469557 rs542660568 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469603 19469604 rs561113877 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19469637 19469638 rs528286678 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469639 19469640 rs112490230 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, 2 C,G, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 733 chr21 19469682 19469683 rs565199572 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469684 19469685 rs3962804 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.027176 0.113356 intron exact 1 10 1000GENOMES,ABI,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 733 chr21 19469687 19469688 rs550707824 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469693 19469694 rs569182539 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19469712 19469713 rs202081142 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19469723 19469724 rs530178502 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469754 19469755 rs548265594 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469788 19469789 rs192206132 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469821 19469822 rs756350591 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19469834 19469835 rs534107227 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469857 19469858 rs142815454 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 733 chr21 19469860 19469861 rs570827912 0 + A A A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19469861 19469862 rs753168281 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19469869 19469870 rs538494099 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469890 19469891 rs139780769 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, 733 chr21 19469911 19469912 rs575175178 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469913 19469914 rs149787290 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4951.000000,57.000000, 0.988618,0.011382, 733 chr21 19469923 19469924 rs375182000 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19469934 19469935 rs1688159 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.398714 0.200958 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1377.000000,3631.000000, 0.274960,0.725040, maf-5-some-pop 733 chr21 19469937 19469938 rs146812437 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469943 19469944 rs540442742 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19469954 19469955 rs141057097 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 733 chr21 19469991 19469992 rs113380453 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.098801 0.199095 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4747.000000,261.000000, 0.947883,0.052117, maf-5-some-pop 733 chr21 19470010 19470013 rs141663437 0 + TTC TTC -/TTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TTC, 14.000000,4994.000000, 0.002796,0.997204, 733 chr21 19470019 19470020 rs532308572 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470051 19470052 rs779990453 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470094 19470095 rs544488971 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470111 19470112 rs144751193 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19470122 19470123 rs530088250 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470139 19470140 rs146766378 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470183 19470184 rs566648249 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470186 19470187 rs867523854 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19470189 19470190 rs547947322 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19470200 19470201 rs184048841 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470204 19470205 rs552365854 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470220 19470221 rs746836914 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470227 19470228 rs768688695 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470239 19470240 rs570981157 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470246 19470247 rs1688160 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.388587 0.208071 intron exact 1 MixedObserved 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1322.000000,3686.000000, 0.263978,0.736022, maf-5-some-pop 733 chr21 19470246 19470250 rs386816730 0 + TTAA TTAA CTAT/TTAA genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 733 chr21 19470248 19470249 rs757546883 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470249 19470250 rs1688161 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.388587 0.208071 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 3686.000000,1322.000000, 0.736022,0.263978, maf-5-some-pop 733 chr21 19470267 19470268 rs112774008 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 7 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19470273 19470274 rs546176261 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470322 19470323 rs558092072 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470365 19470366 rs188633250 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470396 19470397 rs533825241 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470402 19470403 rs766062858 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470417 19470418 rs780931279 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19470432 19470433 rs143456476 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19470437 19470438 rs190639947 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470443 19470444 rs544211593 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470483 19470484 rs562778860 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19470487 19470488 rs574618881 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470488 19470489 rs867477891 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19470551 19470552 rs577989966 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19470561 19470562 rs541838882 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19470569 19470570 rs1688162 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.38821 0.208322 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1320.000000,3688.000000, 0.263578,0.736422, maf-5-some-pop 733 chr21 19470618 19470619 rs759844493 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470627 19470628 rs569687255 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19470635 19470636 rs80100700 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.027197 0.113532 intron exact 1 SingleClassTriAllelic 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 3 A,G,T, 4.000000,4939.000000,65.000000, 0.000799,0.986222,0.012979, maf-5-some-pop,maf-5-all-pops 733 chr21 19470658 19470659 rs559782035 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,G, 38.000000,4970.000000, 0.007588,0.992412, 733 chr21 19470669 19470670 rs564565193 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470686 19470687 rs115602669 0 + A A A/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19470710 19470711 rs550237111 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470721 19470722 rs568750432 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470723 19470724 rs756590804 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470724 19470725 rs536113159 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470759 19470760 rs777893252 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470775 19470776 rs754038190 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470778 19470779 rs548209255 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19470782 19470783 rs757521124 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470786 19470787 rs147970650 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19470822 19470823 rs779322737 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19470855 19470856 rs141624798 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19470856 19470857 rs533915547 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19470871 19470872 rs150126644 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19470924 19470925 rs182519717 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19470933 19470934 rs572483258 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19470982 19470983 rs538065063 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19471015 19471016 rs187227934 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19471034 19471035 rs866738727 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19471041 19471042 rs559823390 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,JMKIDD_LAB,PADH-LAB_SPU,SSIP, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19471057 19471058 rs541675767 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19471075 19471076 rs191308242 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19471080 19471081 rs184364927 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19471145 19471146 rs545930281 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19471219 19471220 rs564584914 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19471246 19471247 rs4122523 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.498547 0.026918 intron exact 1 16 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,ILLUMINA-UK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 2639.000000,2369.000000, 0.526957,0.473043, maf-5-some-pop,maf-5-all-pops 733 chr21 19471248 19471249 rs34118982 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.38555 0.210062 intron exact 1 16 1000GENOMES,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 1306.000000,3702.000000, 0.260783,0.739217, maf-5-some-pop 733 chr21 19471249 19471250 rs397867102 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19471257 19471258 rs550357590 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19471300 19471301 rs193244213 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19471307 19471308 rs531462770 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 733 chr21 19471308 19471309 rs529658131 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19471320 19471321 rs185739019 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19471341 19471343 rs775822995 0 + TA TA -/TA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19471376 19471377 rs566508196 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19471425 19471426 rs527256255 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19471432 19471432 rs34156087 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19471445 19471446 rs9981914 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.014274 0.083265 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WUGSC_SSAHASNP, 2 A,T, 4972.000000,36.000000, 0.992812,0.007188, 733 chr21 19471451 19471452 rs188757531 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19471497 19471498 rs138710556 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19471513 19471514 rs181576480 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19471537 19471538 rs143251364 0 + A A A/C genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,C, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19471541 19471542 rs80318071 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BGI, 0 733 chr21 19471544 19471545 rs535403350 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19471564 19471565 rs553636998 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19471651 19471652 rs573369993 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19471662 19471663 rs770451364 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19471676 19471677 rs773955341 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19471693 19471694 rs865909667 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19471725 19471726 rs78702252 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.071522 0.175059 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,T, 186.000000,4822.000000, 0.037141,0.962859, maf-5-some-pop 733 chr21 19471817 19471820 rs567804725 0 + AAA AAA -/AAA genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 1 1000GENOMES, 2 -,AAA, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19471895 19471896 rs759193379 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19471897 19471898 rs767863895 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19471926 19471927 rs546202345 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19471987 19471988 rs557825705 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472025 19472026 rs867871562 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19472040 19472041 rs576482974 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472042 19472043 rs775773313 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19472057 19472058 rs73310443 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4849.000000,159.000000, 0.968251,0.031749, maf-5-some-pop 733 chr21 19472062 19472063 rs183861689 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472095 19472096 rs188635697 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472110 19472111 rs1735299 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.441841 0.160303 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1650.000000,3358.000000, 0.329473,0.670527, maf-5-some-pop 733 chr21 19472111 19472112 rs560109728 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472143 19472144 rs76413383 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 5 1000GENOMES,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4947.000000,61.000000, 0.987819,0.012180, 733 chr21 19472193 19472194 rs753942681 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19472202 19472203 rs552161831 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472220 19472221 rs181396547 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19472239 19472240 rs531481357 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472279 19472280 rs758473698 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19472285 19472286 rs549602241 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19472316 19472317 rs140215982 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19472342 19472343 rs757359209 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19472348 19472349 rs149628793 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19472377 19472378 rs553525668 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472381 19472382 rs765436927 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19472393 19472394 rs59034488 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.082251 0.187063 intron exact 1 SingleClassTriAllelic 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP, 3 A,C,T, 30.000000,4794.000000,184.000000, 0.005990,0.957268,0.036741, maf-5-some-pop,maf-5-all-pops 733 chr21 19472394 19472395 rs79790600 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 733 chr21 19472424 19472425 rs1491767 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.442655 0.159323 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3352.000000,1656.000000, 0.669329,0.330671, maf-5-some-pop 733 chr21 19472427 19472428 rs543930636 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19472458 19472458 rs555568986 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19472504 19472505 rs78032585 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.047155 0.14613 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,JMKIDD_LAB, 2 A,T, 4887.000000,121.000000, 0.975839,0.024161, maf-5-some-pop 733 chr21 19472532 19472533 rs74512498 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 79.000000,4929.000000, 0.015775,0.984225, maf-5-some-pop 733 chr21 19472549 19472550 rs777639820 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19472557 19472558 rs144237997 0 + A A A/G genomic single by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 1 1000GENOMES, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 733 chr21 19472621 19472622 rs559946826 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472633 19472634 rs376202262 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19472645 19472645 rs202232003 0 + - - -/A genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19472646 19472647 rs374819147 0 + T T G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19472646 19472646 rs35833059 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.442113 0.159977 intron between 1 MixedObserved 17 1000GENOMES,ABI,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PADH-LAB_SPU,SSIP,SSMP,TISHKOFF, 2 -,G, 3356.000000,1652.000000, 0.670128,0.329872, maf-5-some-pop 733 chr21 19472647 19472647 rs67442736 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 PJP, 0 733 chr21 19472652 19472653 rs533670706 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472659 19472660 rs545375352 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19472718 19472719 rs186029074 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19472745 19472746 rs531194876 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472746 19472747 rs549879150 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19472749 19472750 rs561470008 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472758 19472759 rs528923642 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472759 19472760 rs148727630 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 43.000000,4965.000000, 0.008586,0.991414, 733 chr21 19472781 19472782 rs142269773 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472790 19472791 rs539759466 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472835 19472836 rs549549777 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472837 19472838 rs570060322 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472878 19472879 rs773865779 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19472887 19472888 rs537072569 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19472896 19472897 rs555763113 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19472907 19472908 rs190949854 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19472993 19472994 rs370777811 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19473021 19473022 rs146824309 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19473087 19473088 rs374431865 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19473101 19473102 rs139603551 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19473128 19473132 rs769691519 0 + TATT TATT -/TATT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473133 19473134 rs182394650 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19473134 19473135 rs745505546 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473155 19473157 rs749060368 0 + CT CT -/CT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473159 19473160 rs578103728 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19473161 19473162 rs867113133 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19473177 19473178 rs550029317 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19473184 19473185 rs17002322 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19473204 19473205 rs563810173 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19473215 19473216 rs187201957 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19473282 19473283 rs765207936 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19473306 19473308 rs770722282 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473352 19473353 rs143393447 0 + C C C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19473368 19473369 rs146716920 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19473383 19473384 rs140394367 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19473405 19473406 rs547079425 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19473424 19473425 rs559154515 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19473476 19473477 rs190489931 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19473484 19473485 rs5842675 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.416382 0.186593 intron exact 1 12 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,T, 1480.000000,3528.000000, 0.295527,0.704473, maf-5-some-pop 733 chr21 19473487 19473488 rs796979415 0 + T T AA/T genomic in-del unknown 0 0 intron rangeInsertion 1 FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 733 chr21 19473488 19473489 rs397866563 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 2 ABI,HGSV, 0 733 chr21 19473488 19473489 rs869180314 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 733 chr21 19473497 19473498 rs551525595 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19473526 19473527 rs569866166 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19473554 19473555 rs764538675 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473578 19473579 rs751552964 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19473622 19473623 rs149968201 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19473625 19473626 rs558214120 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473636 19473637 rs537309736 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19473656 19473657 rs145089904 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19473669 19473670 rs1119296 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.459233 0.136827 intron exact 1 MixedObserved 18 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3219.000000,1789.000000, 0.642772,0.357228, maf-5-some-pop 733 chr21 19473669 19473672 rs386816731 0 + ACG ACG ACG/GCA genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19473670 19473671 rs111522283 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19473671 19473672 rs1616278 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.441705 0.160466 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3359.000000,1649.000000, 0.670727,0.329273, maf-5-some-pop 733 chr21 19473678 19473679 rs752345724 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19473728 19473729 rs183103728 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19473735 19473736 rs187604873 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19473832 19473833 rs557497383 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19473839 19473840 rs77033700 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,T, 14.000000,4994.000000, 0.002796,0.997204, 733 chr21 19473879 19473880 rs542820545 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19473882 19473883 rs113769471 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 733 chr21 19473889 19473890 rs549357948 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19473904 19473905 rs766563062 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473919 19473920 rs561385905 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19473925 19473926 rs573282828 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19473928 19473929 rs190180306 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19473936 19473937 rs777550086 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19473963 19473964 rs573751369 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19473973 19473974 rs542723240 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19473985 19473986 rs1735297 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.440746 0.161604 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3366.000000,1642.000000, 0.672125,0.327875, maf-5-some-pop 733 chr21 19473987 19473988 rs866807905 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19474000 19474001 rs11701648 0 + T T G/T genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 733 chr21 19474008 19474009 rs78921208 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 36.000000,4972.000000, 0.007188,0.992812, 733 chr21 19474010 19474011 rs983484 0 + C C A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.451234 0.14834 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3286.000000,1722.000000, 0.656150,0.343850, maf-5-some-pop 733 chr21 19474032 19474033 rs71848643 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 GMI,SSMP, 0 733 chr21 19474032 19474034 rs552059323 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 5 1000GENOMES,DDI,EVA_GENOME_DK,GMI,HAMMER_LAB, 2 -,TT, 1806.000000,3202.000000, 0.360623,0.639377, maf-5-some-pop,maf-5-all-pops 733 chr21 19474032 19474035 rs771765375 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474033 19474035 rs759695890 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474038 19474039 rs865824144 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19474055 19474056 rs565069849 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19474099 19474100 rs1688163 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.41023 0.191902 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3565.000000,1443.000000, 0.711861,0.288139, maf-5-some-pop 733 chr21 19474105 19474106 rs796880451 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19474106 19474107 rs144193490 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 2 1000GENOMES,TISHKOFF, 2 -,A, 51.000000,4957.000000, 0.010184,0.989816, 733 chr21 19474107 19474108 rs771732283 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474125 19474126 rs530759968 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474138 19474139 rs779520669 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474144 19474145 rs149040487 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474150 19474151 rs1735295 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.346369 0.23068 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1116.000000,3892.000000, 0.222843,0.777157, maf-5-some-pop 733 chr21 19474159 19474160 rs528473175 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19474160 19474161 rs546991574 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474182 19474183 rs187853420 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474190 19474191 rs769072912 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474229 19474230 rs539083633 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474248 19474249 rs777144942 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474262 19474263 rs557278019 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474289 19474290 rs569422450 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19474332 19474333 rs762408767 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474379 19474380 rs770467360 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474390 19474391 rs773408024 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474393 19474394 rs560868807 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474394 19474395 rs766512151 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474404 19474405 rs529772351 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474415 19474416 rs77192107 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,G, 4974.000000,34.000000, 0.993211,0.006789, 733 chr21 19474446 19474447 rs192330279 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19474466 19474467 rs117643667 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19474486 19474487 rs1688164 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.451359 0.148171 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,T, 3285.000000,1723.000000, 0.655950,0.344050, maf-5-some-pop 733 chr21 19474543 19474544 rs771136034 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19474571 19474572 rs531838146 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19474591 19474592 rs577667011 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474593 19474594 rs545086045 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474614 19474615 rs2248200 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.451608 0.147832 intron exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3283.000000,1725.000000, 0.655551,0.344449, maf-5-some-pop 733 chr21 19474635 19474636 rs145751339 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474638 19474639 rs12106400 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SC_SNP, 0 733 chr21 19474676 19474677 rs571822044 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19474748 19474749 rs542972224 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19474752 19474753 rs534512427 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474755 19474756 rs553710392 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19474776 19474777 rs1688165 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.453087 0.145793 intron exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3271.000000,1737.000000, 0.653155,0.346845, maf-5-some-pop 733 chr21 19474801 19474802 rs546689520 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474807 19474808 rs571572090 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474814 19474815 rs1688166 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.451483 0.148002 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1724.000000,3284.000000, 0.344249,0.655751, maf-5-some-pop 733 chr21 19474818 19474819 rs115014835 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4943.000000,65.000000, 0.987021,0.012979, 733 chr21 19474829 19474830 rs185527505 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19474860 19474861 rs536467350 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19474875 19474876 rs554707548 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474906 19474907 rs781668477 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474917 19474917 rs199962219 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron between 1 1 1000GENOMES, 2 -,A, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19474938 19474939 rs748574389 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19474942 19474943 rs2205309 0 - A A A/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 T, 420.000000, 1.000000, 733 chr21 19474948 19474949 rs187818693 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19474989 19474990 rs191976772 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19475004 19475005 rs760236046 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19475035 19475036 rs556269138 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19475050 19475051 rs552739428 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475082 19475083 rs577557730 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475141 19475142 rs544812293 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475243 19475244 rs969578 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.451359 0.148171 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1723.000000,3285.000000, 0.344050,0.655950, maf-5-some-pop 733 chr21 19475266 19475267 rs575383769 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475283 19475284 rs969579 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.451732 0.147663 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1726.000000,3282.000000, 0.344649,0.655351, maf-5-some-pop 733 chr21 19475303 19475304 rs868271870 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19475306 19475307 rs561028225 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19475362 19475363 rs573179533 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475448 19475449 rs56023422 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,HGSV,ILLUMINA-UK, 2 A,T, 83.000000,4925.000000, 0.016573,0.983427, maf-5-some-pop 733 chr21 19475453 19475454 rs565167564 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475500 19475501 rs763520907 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19475525 19475526 rs1882890 0 - A A A/T genomic single by-frequency,by-hapmap,by-1000genomes 0.01781 0.09267 intron exact 1 3 1000GENOMES,ABI,TSC-CSHL, 2 A,T, 45.000000,4963.000000, 0.008986,0.991014, maf-5-some-pop 733 chr21 19475532 19475533 rs770859108 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19475536 19475537 rs138742595 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19475545 19475546 rs562655868 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475552 19475553 rs369060239 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19475555 19475556 rs530094287 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19475592 19475593 rs184265101 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19475642 19475643 rs566718997 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19475687 19475688 rs534266272 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19475688 19475689 rs1491768 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.451483 0.148002 intron exact 1 31 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3284.000000,1724.000000, 0.655751,0.344249, maf-5-some-pop,genotype-conflict 733 chr21 19475719 19475720 rs759671898 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19475740 19475741 rs78605471 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049812 0.149749 intron exact 1 12 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4880.000000,128.000000, 0.974441,0.025559, maf-5-some-pop 733 chr21 19475757 19475758 rs370717919 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19475794 19475795 rs1882889 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.166832 0.235761 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4548.000000,460.000000, 0.908147,0.091853, maf-5-some-pop 733 chr21 19475795 19475796 rs575423312 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475817 19475818 rs536307355 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19475818 19475819 rs542368759 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19475858 19475859 rs370700349 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19475865 19475866 rs573057628 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19475914 19475915 rs781530998 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19475915 19475916 rs529762180 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19475917 19475918 rs1688167 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.461703 0.132973 intron exact 1 MixedObserved 16 1000GENOMES,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,WEILL_CORNELL_DGM, 2 C,T, 1811.000000,3197.000000, 0.361621,0.638379, maf-5-some-pop 733 chr21 19475917 19475919 rs386816732 0 + TG TG CA/TG genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19475918 19475919 rs1688168 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.450985 0.148678 intron exact 1 16 1000GENOMES,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 1720.000000,3288.000000, 0.343450,0.656550, maf-5-some-pop 733 chr21 19475967 19475968 rs117779967 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19475970 19475970 rs35909877 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19476033 19476034 rs754659427 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476159 19476160 rs147089475 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4936.000000,72.000000, 0.985623,0.014377, 733 chr21 19476225 19476226 rs530179216 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476234 19476235 rs761302956 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476264 19476265 rs548267463 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19476269 19476270 rs747837995 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476287 19476288 rs560349416 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19476327 19476328 rs527866296 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19476332 19476333 rs189081154 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19476345 19476346 rs756481279 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476350 19476351 rs552467933 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476351 19476352 rs778214249 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476376 19476377 rs571139734 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19476389 19476390 rs538119012 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476390 19476391 rs550601030 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476393 19476394 rs568868383 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19476395 19476396 rs536394280 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476433 19476434 rs554680488 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19476444 19476445 rs181308475 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19476486 19476487 rs148129970 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19476502 19476503 rs371436436 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19476508 19476509 rs771536204 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476546 19476547 rs558424369 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476563 19476564 rs577069810 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19476571 19476572 rs141939552 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19476596 19476597 rs201179118 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476598 19476599 rs571821785 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476601 19476602 rs574478214 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19476602 19476603 rs541949228 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19476618 19476619 rs184972835 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19476626 19476627 rs527750229 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19476627 19476628 rs546389752 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19476654 19476655 rs749498699 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19476655 19476656 rs189285788 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19476667 19476668 rs772160476 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476673 19476674 rs180904739 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19476703 19476704 rs771082770 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19476722 19476723 rs117966676 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19476723 19476724 rs760886907 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476726 19476727 rs186338455 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19476764 19476765 rs150704477 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4963.000000,45.000000, 0.991014,0.008986, 733 chr21 19476814 19476815 rs202237616 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19476836 19476837 rs773114409 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476852 19476853 rs547730344 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19476859 19476860 rs561715917 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19476864 19476865 rs567303804 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19476882 19476883 rs751476836 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19476929 19476930 rs754502090 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19476943 19476944 rs138930968 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19476954 19476955 rs558761763 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19476975 19476976 rs189372556 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19476993 19476994 rs752339843 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477045 19477046 rs537782056 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19477074 19477075 rs556018138 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19477077 19477078 rs574362069 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19477086 19477087 rs755889647 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477127 19477128 rs988095 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.415727 0.187175 intron exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1476.000000,3532.000000, 0.294728,0.705272, maf-5-some-pop,genotype-conflict 733 chr21 19477159 19477160 rs749701232 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477189 19477190 rs113801434 0 + G G -/G genomic deletion unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19477194 19477195 rs553710474 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19477203 19477204 rs114365414 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19477255 19477256 rs182026698 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19477312 19477313 rs149359046 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19477355 19477356 rs761423162 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19477363 19477364 rs115466349 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19477365 19477366 rs757681280 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477369 19477370 rs779426283 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477431 19477432 rs1491769 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.462363 0.131916 intron exact 1 28 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 3191.000000,1817.000000, 0.637181,0.362819, maf-5-some-pop,genotype-conflict 733 chr21 19477442 19477443 rs562380133 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19477444 19477445 rs146292060 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19477454 19477455 rs548209339 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19477467 19477468 rs772068521 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477470 19477471 rs570025218 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477486 19477487 rs747215552 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477516 19477517 rs755464829 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19477530 19477531 rs139636125 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19477536 19477537 rs527420888 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19477544 19477545 rs144241687 0 + T T G/T genomic single by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 G,T, 39.000000,4969.000000, 0.007788,0.992212, 733 chr21 19477567 19477568 rs772862996 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477586 19477587 rs762763126 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19477611 19477612 rs766122696 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477632 19477633 rs146245699 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19477655 19477656 rs530695539 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19477663 19477664 rs117235452 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19477691 19477692 rs568025380 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19477705 19477706 rs535320597 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19477751 19477752 rs767122996 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19477755 19477755 rs34395844 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19477802 19477803 rs370323391 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19477817 19477818 rs148468230 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19477861 19477862 rs56671165 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.089446 0.191631 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 235.000000,4773.000000, 0.046925,0.953075, maf-5-some-pop 733 chr21 19477863 19477864 rs557990352 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19477880 19477881 rs557187934 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19477911 19477912 rs576444428 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19477935 19477935 rs377730894 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 733 chr21 19477978 19477979 rs763855009 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19478022 19478023 rs753454141 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19478035 19478036 rs544038188 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19478088 19478089 rs142604897 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 733 chr21 19478146 19478147 rs1735292 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.416545 0.186448 intron exact 1 27 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3527.000000,1481.000000, 0.704273,0.295727, maf-5-some-pop 733 chr21 19478219 19478220 rs9975454 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.163237 0.234461 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4559.000000,449.000000, 0.910343,0.089657, maf-5-some-pop 733 chr21 19478294 19478295 rs758958996 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19478307 19478308 rs553015200 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19478309 19478310 rs554930607 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19478372 19478373 rs868539905 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19478400 19478401 rs560128502 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19478416 19478417 rs11909985 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.078884 0.182262 intron exact 1 9 1000GENOMES,ABI,CSHL-HAPMAP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 206.000000,4802.000000, 0.041134,0.958866, maf-5-some-pop 733 chr21 19478420 19478421 rs552123188 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478427 19478428 rs368054242 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19478498 19478499 rs574468639 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19478500 19478501 rs148684586 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0.028341 0.115616 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,A, 72.000000,4936.000000, 0.014377,0.985623, 733 chr21 19478517 19478518 rs564042231 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478533 19478534 rs531267585 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478537 19478538 rs781438775 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19478569 19478570 rs550522990 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19478609 19478610 rs114007677 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.078518 0.181917 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4803.000000,205.000000, 0.959065,0.040934, maf-5-some-pop 733 chr21 19478613 19478614 rs774346454 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19478660 19478661 rs535403033 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478677 19478678 rs2223077 0 - C C C/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19478692 19478693 rs772178193 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19478700 19478701 rs115680727 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.079617 0.182947 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 208.000000,4800.000000, 0.041533,0.958466, maf-5-some-pop 733 chr21 19478708 19478709 rs2223076 0 - A A C/T genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 intron exact 1 29 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19478739 19478740 rs563498927 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19478757 19478758 rs2251419 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.452965 0.145963 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1736.000000,3272.000000, 0.346645,0.653355, maf-5-some-pop 733 chr21 19478778 19478779 rs186051403 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19478786 19478787 rs537537509 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478793 19478793 rs201205556 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19478794 19478800 rs199816299 0 + TTTTTC TTTTTC -/TTTTTC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 0 733 chr21 19478795 19478807 rs142290321 0 + TTTTCTTTTTTC TTTTCTTTTTTC -/TTTTCTTTTTTC genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 733 chr21 19478799 19478811 rs374289830 0 + CTTTTTTCTTTT CTTTTTTCTTTT -/CTTTTTTCTTTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TISHKOFF, 0 733 chr21 19478799 19478805 rs377143529 0 + CTTTTT CTTTTT -/CTTTTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TISHKOFF, 0 733 chr21 19478799 19478801 rs386816733 0 + CT CT CT/TC genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19478799 19478800 rs868224156 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 ILLUMINA, 0 733 chr21 19478807 19478807 rs775916486 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 DDI, 0 733 chr21 19478818 19478819 rs200861208 0 + C C -/C genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19478818 19478819 rs556036736 0 + C C C/T genomic single by-frequency,by-1000genomes 0.079617 0.182947 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 4800.000000,208.000000, 0.958466,0.041533, maf-5-some-pop 733 chr21 19478819 19478819 rs536634277 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.41507 0.187755 intron between 1 5 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 -,T, 3536.000000,1472.000000, 0.706070,0.293930, maf-5-some-pop 733 chr21 19478831 19478832 rs143532697 0 + G G G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BL, 0 733 chr21 19478831 19478831 rs60995338 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 GMI,HGSV, 0 733 chr21 19478851 19478852 rs191772537 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478852 19478853 rs541738936 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19478855 19478856 rs868646534 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19478916 19478917 rs559816407 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478922 19478923 rs564358974 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19478948 19478949 rs375781026 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19478955 19478956 rs2776082 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.453087 0.145793 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1737.000000,3271.000000, 0.346845,0.653155, maf-5-some-pop 733 chr21 19478968 19478969 rs779126116 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19478973 19478974 rs531352821 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19479002 19479003 rs549457038 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19479014 19479015 rs2776083 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.493013 0.058691 intron exact 1 22 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2800.000000,2208.000000, 0.559105,0.440895, maf-5-some-pop 733 chr21 19479034 19479035 rs2776084 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499424 0.016963 intron exact 1 22 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2589.000000,2419.000000, 0.516973,0.483027, maf-5-some-pop,maf-5-all-pops 733 chr21 19479059 19479060 rs547532433 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19479062 19479063 rs565842946 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19479082 19479083 rs865890029 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19479092 19479093 rs539670750 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19479109 19479110 rs551529413 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19479111 19479112 rs115845698 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.079251 0.182605 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 207.000000,4801.000000, 0.041334,0.958666, maf-5-some-pop 733 chr21 19479129 19479130 rs537574737 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19479158 19479159 rs555875575 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19479166 19479167 rs567734203 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479176 19479177 rs533067519 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19479177 19479178 rs183072547 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19479185 19479186 rs752093814 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479225 19479226 rs186383129 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19479243 19479244 rs547671079 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479266 19479267 rs748392874 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479266 19479268 rs758618040 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479267 19479268 rs376000604 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19479269 19479270 rs545681541 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19479282 19479283 rs557373446 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479298 19479302 rs775459720 0 + TTTT TTTT -/TTTT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19479317 19479318 rs575619271 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19479364 19479365 rs751619227 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479402 19479403 rs9978767 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.168785 0.236441 intron exact 1 14 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4542.000000,466.000000, 0.906949,0.093051, maf-5-some-pop 733 chr21 19479418 19479419 rs778823606 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479440 19479441 rs561471704 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19479503 19479504 rs76817643 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.071522 0.175059 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 186.000000,4822.000000, 0.037141,0.962859, maf-5-some-pop 733 chr21 19479542 19479543 rs147759675 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479549 19479550 rs559494067 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19479550 19479551 rs141241434 0 + G G C/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,G, 12.000000,4996.000000, 0.002396,0.997604, 733 chr21 19479560 19479561 rs772012636 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479561 19479562 rs561213557 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19479581 19479582 rs567428128 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19479608 19479610 rs755039542 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479618 19479619 rs775526116 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479632 19479633 rs146967480 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19479657 19479658 rs768150120 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479665 19479666 rs570092533 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19479687 19479688 rs530950361 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19479725 19479726 rs149198419 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479726 19479727 rs536073602 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 733 chr21 19479728 19479729 rs865995453 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19479730 19479731 rs982274 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.345482 0.231048 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 3896.000000,1112.000000, 0.777955,0.222045, maf-5-some-pop 733 chr21 19479778 19479779 rs535071946 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479780 19479781 rs750761880 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19479782 19479783 rs553338567 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479790 19479791 rs571805208 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479792 19479793 rs367878525 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19479798 19479799 rs557213536 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19479857 19479858 rs776331732 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19479887 19479888 rs2205308 0 - G G A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.095934 0.196885 intron exact 1 18 1000GENOMES,AFFY,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 253.000000,4755.000000, 0.050519,0.949481, maf-5-some-pop 733 chr21 19479916 19479917 rs538597526 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19479961 19479962 rs543021593 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19479970 19479971 rs190897813 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19479980 19479981 rs764925936 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19479993 19479994 rs766736033 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480013 19480014 rs867531796 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19480025 19480026 rs752048216 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480099 19480100 rs78227879 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19480134 19480135 rs11911851 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.142272 0.225598 intron exact 1 15 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 386.000000,4622.000000, 0.077077,0.922923, maf-5-some-pop 733 chr21 19480147 19480148 rs772864535 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19480152 19480153 rs541109261 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19480153 19480154 rs767634503 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480176 19480177 rs374022121 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19480178 19480179 rs762381520 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19480209 19480210 rs752763348 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480212 19480213 rs559317088 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19480213 19480214 rs546178896 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 733 chr21 19480227 19480228 rs545195905 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19480237 19480238 rs143332414 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19480249 19480250 rs867472430 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19480282 19480283 rs182662548 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19480287 19480288 rs148380661 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19480316 19480317 rs186755728 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19480374 19480375 rs9982030 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.048295 0.147699 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WUGSC_SSAHASNP, 2 C,T, 4884.000000,124.000000, 0.975240,0.024760, maf-5-some-pop 733 chr21 19480377 19480378 rs142217946 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 733 chr21 19480384 19480385 rs192440354 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 0 733 chr21 19480421 19480422 rs552683407 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19480434 19480435 rs62215391 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 8 1000GENOMES,BCMHGSC_JDW,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4940.000000,68.000000, 0.986422,0.013578, 733 chr21 19480446 19480447 rs780004708 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480465 19480467 rs67320180 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 4 DDI,GMI,HAMMER_LAB,SSMP, 0 733 chr21 19480465 19480465 rs796351956 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HAMMER_LAB, 0 733 chr21 19480489 19480490 rs205682 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.420733 0.18262 intron exact 1 30 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1507.000000,3501.000000, 0.300919,0.699081, maf-5-some-pop,maf-5-all-pops 733 chr21 19480491 19480492 rs183430830 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 733 chr21 19480510 19480511 rs569209404 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19480522 19480523 rs377330834 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19480529 19480530 rs62215392 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 13 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 122.000000,4886.000000, 0.024361,0.975639, 733 chr21 19480541 19480542 rs747658178 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480546 19480547 rs554982327 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19480547 19480548 rs77713026 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.079251 0.182605 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 207.000000,4801.000000, 0.041334,0.958666, maf-5-some-pop 733 chr21 19480552 19480553 rs772786805 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480556 19480557 rs537352930 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480562 19480563 rs534446606 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19480564 19480565 rs553053257 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19480571 19480572 rs187364094 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19480573 19480574 rs114942379 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19480582 19480583 rs77461357 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19480589 19480590 rs774650315 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480639 19480640 rs146302200 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19480660 19480661 rs118170877 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 733 chr21 19480664 19480665 rs545559311 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19480772 19480773 rs767962341 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19480804 19480805 rs566179556 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19480816 19480817 rs535157070 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19480830 19480831 rs138178013 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19480832 19480833 rs13049985 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19480833 19480834 rs13053081 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19480842 19480843 rs13048693 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.085819 0.188533 intron exact 1 19 1000GENOMES,ABI,AFFY,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,KRIBB_YJKIM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4783.000000,225.000000, 0.955072,0.044928, maf-5-some-pop 733 chr21 19480861 19480862 rs192914558 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19480862 19480863 rs865896596 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19480904 19480905 rs565397473 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19480912 19480913 rs572621972 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19480938 19480939 rs550806425 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19480993 19480994 rs569097981 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481004 19481005 rs764270592 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481008 19481009 rs74825933 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4949.000000,59.000000, 0.988219,0.011781, maf-5-some-pop 733 chr21 19481018 19481019 rs77441619 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,G, 58.000000,4950.000000, 0.011582,0.988419, 733 chr21 19481092 19481093 rs113936936 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 intron exact 1 12 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4816.000000,192.000000, 0.961661,0.038339, maf-5-some-pop 733 chr21 19481093 19481094 rs184732004 0 + G G A/G/T genomic single by-1000genomes 0 0 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481105 19481106 rs768541142 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19481116 19481117 rs561151535 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA-GONL,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481117 19481118 rs552653687 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481125 19481126 rs146100223 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19481153 19481163 rs749184464 0 + GTTGTGTGTG GTTGTGTGTG -/GTTGTGTGTG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481153 19481157 rs775619243 0 + GTTG GTTG -/GTTG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481153 19481153 rs776190326 0 + - - -/G genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA_GENOME_DK, 0 733 chr21 19481154 19481155 rs4818402 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.478271 0.101943 intron exact 1 MixedObserved 19 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,PJP,SC_SNP,SSAHASNP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 1982.000000,3026.000000, 0.395767,0.604233, maf-5-some-pop,maf-5-all-pops 733 chr21 19481154 19481158 rs199538853 0 + TTGT TTGT -/TTGT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 733 chr21 19481154 19481164 rs764991416 0 + TTGTGTGTGT TTGTGTGTGT -/TTGTGTGTGT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481154 19481156 rs796787973 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 BILGI_BIOE,SSMP, 0 733 chr21 19481155 19481156 rs199819900 0 + T T G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19481155 19481163 rs200582449 0 + TGTGTGTG TGTGTGTG -/TGTGTGTG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 733 chr21 19481155 19481161 rs373717673 0 + TGTGTG TGTGTG -/TGTGTG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 LUNTER, 0 733 chr21 19481155 19481173 rs796167431 0 + TGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTG -/TGTGTGTGTGTGTGTGTG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HAMMER_LAB, 0 733 chr21 19481155 19481155 rs375270874 0 + - - -/TGTG/TT genomic insertion unknown 0 0 intron between 1 1 DDI, 0 733 chr21 19481156 19481159 rs147460892 0 + GTG GTG -/GTG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481159 19481159 rs751405726 0 + - - -/GGTG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481180 19481190 rs68066729 0 + GTGTGTGTGT GTGTGTGTGT -/GTGTGTGTGT genomic deletion unknown 0 0 intron range 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 733 chr21 19481185 19481188 rs767592830 0 + TGT TGT -/TGT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481185 19481191 rs777007013 0 + TGTGTT TGTGTT -/TGTGTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481189 19481189 rs765574763 0 + - - -/TGTGTT/TGTT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481212 19481213 rs9305840 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.399073 0.200692 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 13 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3629.000000,1379.000000, 0.724641,0.275359, maf-5-some-pop,maf-5-all-pops 733 chr21 19481212 19481214 rs36005857 0 + GC GC GC/TT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 3 ABI,HAMMER_LAB,TISHKOFF, 0 733 chr21 19481213 19481214 rs9305841 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.398894 0.200825 intron exact 1 14 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3630.000000,1378.000000, 0.724840,0.275160, maf-5-some-pop 733 chr21 19481214 19481214 rs201547016 0 + - - -/TT genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19481220 19481221 rs542974086 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19481226 19481227 rs561259987 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481231 19481232 rs573022574 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481296 19481297 rs34009431 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.352721 0.227922 intron exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3863.000000,1145.000000, 0.771366,0.228634, maf-5-some-pop,maf-5-all-pops 733 chr21 19481307 19481308 rs2055012 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.407158 0.194426 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3583.000000,1425.000000, 0.715455,0.284545, maf-5-some-pop,maf-5-all-pops 733 chr21 19481309 19481310 rs369111633 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19481322 19481323 rs550642911 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481328 19481329 rs867030267 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19481353 19481354 rs2055011 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.409212 0.192748 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1437.000000,3571.000000, 0.286941,0.713059, maf-5-some-pop,maf-5-all-pops 733 chr21 19481374 19481375 rs199565684 0 - A A G/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 733 chr21 19481375 19481375 rs5842676 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.368733 0.220005 intron between 1 15 1000GENOMES,ABI,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 1221.000000,3787.000000, 0.243810,0.756190, maf-5-some-pop,maf-5-all-pops 733 chr21 19481376 19481376 rs67563247 0 + - - -/C genomic insertion unknown 0 0 intron between 1 2 DEVINE_LAB,PJP, 0 733 chr21 19481379 19481380 rs376568726 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.082541 0.185628 intron exact 1 6 1000GENOMES,HAMMER_LAB,ILLUMINA,PADH-LAB_SPU,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4792.000000,216.000000, 0.956869,0.043131, maf-5-some-pop 733 chr21 19481382 19481383 rs369662125 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19481407 19481408 rs535144194 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19481416 19481417 rs371933214 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19481422 19481423 rs139761042 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19481443 19481444 rs770615020 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481453 19481454 rs114251783 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 40.000000,4968.000000, 0.007987,0.992013, 733 chr21 19481485 19481486 rs205681 0 - C C G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.090531 0.192535 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 238.000000,4770.000000, 0.047524,0.952476, maf-5-some-pop 733 chr21 19481519 19481520 rs571254104 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481546 19481547 rs374097272 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19481550 19481551 rs548705916 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 733 chr21 19481571 19481572 rs568876065 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19481588 19481589 rs866304682 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19481593 19481594 rs116988993 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19481613 19481614 rs775791607 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481621 19481622 rs568947014 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19481651 19481652 rs368691260 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19481663 19481664 rs1491784 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.397271 0.202018 intron exact 1 28 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1369.000000,3639.000000, 0.273363,0.726637, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19481670 19481671 rs149935313 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19481681 19481682 rs773770585 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19481741 19481743 rs796219333 0 + CT CT -/CT genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 733 chr21 19481742 19481743 rs9977032 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19481743 19481745 rs368899672 0 + CT CT -/CT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19481779 19481780 rs558941674 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481795 19481796 rs192965229 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19481809 19481810 rs183717670 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481818 19481819 rs554581252 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,JMKIDD_LAB, 0 733 chr21 19481839 19481840 rs188438976 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19481862 19481863 rs144011659 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19481872 19481873 rs764252058 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19481886 19481887 rs761234556 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19481894 19481895 rs1491783 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.34303 0.232046 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1101.000000,3907.000000, 0.219848,0.780152, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19481895 19481896 rs181911775 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19481903 19481903 rs763146308 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 733 chr21 19481919 19481920 rs374694546 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19481933 19481934 rs528029124 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481935 19481936 rs735548 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.345037 0.231231 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3898.000000,1110.000000, 0.778355,0.221645, maf-5-some-pop,maf-5-all-pops 733 chr21 19481943 19481961 rs796394309 0 + TTTTTCCCCTCATCTTTC TTTTTCCCCTCATCTTTC -/TTTTTCCCCTCATCTTTC genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 733 chr21 19481954 19481955 rs571292836 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19481958 19481959 rs735547 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.363568 0.222716 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3812.000000,1196.000000, 0.761182,0.238818, maf-5-some-pop,maf-5-all-pops 733 chr21 19482021 19482021 rs539388013 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron between 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 2 -,T, 4975.000000,33.000000, 0.993411,0.006589, 733 chr21 19482055 19482056 rs186448329 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19482074 19482075 rs750678543 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19482075 19482076 rs190078074 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19482178 19482179 rs535923886 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19482182 19482183 rs552717223 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19482255 19482256 rs181790014 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19482274 19482275 rs534120649 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19482278 19482279 rs148692238 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19482293 19482294 rs576691488 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19482315 19482316 rs752617442 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19482351 19482352 rs186405854 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19482352 19482352 rs35299881 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19482361 19482362 rs556091180 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19482465 19482466 rs191097931 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19482486 19482487 rs77228232 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 10 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 733 chr21 19482502 19482503 rs748849193 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19482503 19482504 rs560765138 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19482540 19482541 rs527865372 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19482557 19482558 rs770499689 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19482578 19482579 rs147848371 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19482593 19482594 rs139502932 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19482595 19482596 rs145003211 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19482630 19482631 rs537626622 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19482677 19482678 rs550601150 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19482691 19482692 rs75176578 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 G,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 733 chr21 19482693 19482694 rs772264917 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19482720 19482721 rs529827315 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19482742 19482743 rs565595465 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19482764 19482765 rs780179910 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19482877 19482878 rs547964442 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19482883 19482908 rs71318126 0 + ACCTGCCAACACCTACAGCTGATGT ACCTGCCAACACCTACAGCTGATGT AC/GT genomic mnp unknown 0.5 0 intron rangeDeletion 1 FlankMismatchGenomeShorter,ObservedMismatch 1 HUMANGENOME_JCVI, 2 AC,GT, 1.000000,1.000000, 0.500000,0.500000, observed-mismatch 733 chr21 19482885 19482908 rs141167929 0 + CTGCCAACACCTACAGCTGATGT CTGCCAACACCTACAGCTGATGT -/CTGCCAACACCTACAGCTGATGT genomic deletion by-cluster,by-frequency,by-1000genomes 0.493523 0.056539 intron range 1 DuplicateObserved 8 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER, 2 -,CTGCCAACACCTACAGCTGATGT, 2219.000000,2789.000000, 0.443091,0.556909, maf-5-some-pop,maf-5-all-pops 733 chr21 19482885 19482885 rs765475555 0 + - - -/CTGCCAACACCTACAGCTGATGT genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 733 chr21 19482891 19482914 rs6147432 0 + ACACCTACAGCTGATGTCTGCCA ACACCTACAGCTGATGTCTGCCA -/ACACCTACAGCTGATGTCTGCCA genomic deletion by-cluster 0 0 intron range 1 SingleAlleleFreq 3 HUMANGENOME_JCVI,PJP,TISHKOFF, 1 -, 2.000000, 1.000000, 733 chr21 19482906 19482907 rs2406167 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.435263 0.167862 intron exact 1 MixedObserved 10 1000GENOMES,BGI,BL,DDI,EVA_GENOME_DK,GMI,ILLUMINA,ILLUMINA-UK,SSMP,TSC-CSHL, 2 A,G, 1603.000000,3405.000000, 0.320088,0.679912, maf-5-some-pop,maf-5-all-pops 733 chr21 19482906 19482908 rs386816735 0 + GT GT AC/GT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19482907 19482908 rs205680 0 - T T A/G genomic single by-cluster,by-frequency,by-1000genomes 0.372391 0.217992 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,KWOK,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL, 2 A,G, 1239.000000,3769.000000, 0.247404,0.752596, maf-5-some-pop,maf-5-all-pops 733 chr21 19482915 19482916 rs551906762 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19482933 19482934 rs761255990 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19482946 19482947 rs769326474 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19482950 19482951 rs751646908 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19482962 19482963 rs570423728 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19482978 19482979 rs537739170 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19482990 19482991 rs73894749 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.109814 0.206997 intron exact 1 14 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 292.000000,4716.000000, 0.058307,0.941693, maf-5-some-pop 733 chr21 19482991 19482992 rs761934626 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483043 19483044 rs112706732 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 23.000000,4985.000000, 0.004593,0.995407, 733 chr21 19483056 19483057 rs780925343 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19483067 19483068 rs73894750 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.109814 0.206997 intron exact 1 14 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4716.000000,292.000000, 0.941693,0.058307, maf-5-some-pop 733 chr21 19483086 19483087 rs750555300 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483118 19483119 rs73894751 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.109814 0.206997 intron exact 1 13 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 292.000000,4716.000000, 0.058307,0.941693, maf-5-some-pop 733 chr21 19483124 19483125 rs370242089 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19483174 19483175 rs532709785 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483179 19483180 rs75894650 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.114387 0.210022 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 305.000000,4703.000000, 0.060903,0.939097, maf-5-some-pop 733 chr21 19483192 19483193 rs376572056 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19483197 19483198 rs150965945 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19483199 19483200 rs564628130 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19483245 19483246 rs576846747 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19483266 19483267 rs205679 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 30 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19483274 19483275 rs73894752 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.107694 0.205546 intron exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 286.000000,4722.000000, 0.057109,0.942891, maf-5-some-pop 733 chr21 19483278 19483279 rs205678 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.283421 0.247756 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 856.000000,4152.000000, 0.170927,0.829073, maf-5-some-pop,maf-5-all-pops 733 chr21 19483292 19483293 rs568792625 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19483343 19483344 rs368408488 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19483360 19483361 rs140758018 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19483361 19483362 rs559996430 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19483375 19483376 rs568239327 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19483395 19483396 rs150250766 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19483404 19483405 rs205677 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.282895 0.247826 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4154.000000,854.000000, 0.829473,0.170527, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19483446 19483447 rs73894753 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 intron exact 1 12 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4717.000000,291.000000, 0.941893,0.058107, maf-5-some-pop 733 chr21 19483456 19483457 rs745491737 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483472 19483473 rs570699780 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483518 19483519 rs182656870 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19483519 19483520 rs78046590 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 733 chr21 19483528 19483531 rs552895624 0 + AGG AGG -/AGG genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 733 chr21 19483541 19483542 rs566169531 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19483603 19483604 rs535172233 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19483645 19483646 rs568309245 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19483663 19483664 rs769163018 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483680 19483681 rs535501914 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19483689 19483690 rs554086604 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19483700 19483701 rs73310494 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,COMPLETE_GENOMICS, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19483704 19483705 rs539927394 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19483708 19483709 rs555067768 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483727 19483728 rs2824628 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.47852 0.101384 intron exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1985.000000,3023.000000, 0.396366,0.603634, maf-5-some-pop,maf-5-all-pops 733 chr21 19483732 19483733 rs762397240 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483736 19483737 rs576696815 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19483741 19483742 rs145789225 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4963.000000,45.000000, 0.991014,0.008986, 733 chr21 19483795 19483796 rs573442118 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19483833 19483834 rs376025331 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19483902 19483903 rs574229188 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19483906 19483907 rs773409153 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483922 19483923 rs541471066 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19483933 19483934 rs543961401 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19483938 19483939 rs560085459 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19483964 19483965 rs527442702 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19483974 19483975 rs763055072 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483992 19483993 rs766676040 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19483995 19483996 rs545470876 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19483998 19483999 rs140721567 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19484034 19484035 rs774582227 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484038 19484039 rs760424870 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484088 19484089 rs763883460 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484110 19484111 rs1491782 0 - C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.479421 0.099328 intron exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 1996.000000,3012.000000, 0.398562,0.601438, maf-5-some-pop,maf-5-all-pops 733 chr21 19484130 19484131 rs577418421 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19484137 19484138 rs1491781 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.465368 0.126951 intron exact 1 29 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3163.000000,1845.000000, 0.631589,0.368411, maf-5-some-pop,maf-5-all-pops 733 chr21 19484169 19484170 rs559781181 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19484178 19484179 rs568265274 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19484211 19484212 rs1491780 0 - C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.479583 0.098954 intron exact 1 28 1000GENOMES,ABI,AFFY,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 1998.000000,3010.000000, 0.398962,0.601038, maf-5-some-pop,maf-5-all-pops 733 chr21 19484220 19484221 rs547513298 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19484251 19484252 rs749986843 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484252 19484253 rs201287706 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19484259 19484260 rs752605044 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19484267 19484268 rs205676 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.293294 0.246223 intron exact 1 35 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4114.000000,894.000000, 0.821486,0.178514, maf-5-some-pop,maf-5-all-pops 733 chr21 19484296 19484297 rs779804272 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484318 19484319 rs746687810 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484335 19484336 rs2824629 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.465158 0.127307 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3165.000000,1843.000000, 0.631989,0.368011, maf-5-some-pop,maf-5-all-pops 733 chr21 19484375 19484376 rs778891296 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484398 19484399 rs59742590 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.085456 0.188216 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4784.000000,224.000000, 0.955272,0.044728, maf-5-some-pop 733 chr21 19484439 19484440 rs185052539 0 + A A A/G/T genomic single by-1000genomes 0 0 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484500 19484501 rs770373050 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484501 19484502 rs570139055 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19484523 19484524 rs74688736 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 733 chr21 19484527 19484528 rs571173954 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19484575 19484576 rs555890627 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19484596 19484597 rs374807305 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19484646 19484647 rs189906227 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484666 19484667 rs183082716 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19484671 19484671 rs553030476 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.002393 0.03451 intron between 1 1 1000GENOMES, 2 -,A, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19484699 19484700 rs749342760 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484703 19484704 rs557278137 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19484766 19484767 rs145916775 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19484768 19484769 rs571691920 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19484862 19484863 rs771034227 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484891 19484892 rs774492159 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19484895 19484896 rs188827802 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19484913 19484914 rs7275399 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.434398 0.168811 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3411.000000,1597.000000, 0.681110,0.318890, maf-5-some-pop,maf-5-all-pops 733 chr21 19484947 19484948 rs769974492 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19484951 19484952 rs778393627 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19484957 19484958 rs193048231 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19484962 19484963 rs543221828 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19484975 19484976 rs7275543 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499989 0.002396 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2516.000000,2492.000000, 0.502396,0.497604, maf-5-some-pop,maf-5-all-pops 733 chr21 19484981 19484981 rs559208779 0 + - - -/AA genomic insertion by-frequency,by-1000genomes 0.002792 0.037256 intron between 1 1 1000GENOMES, 2 -,AA, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19485027 19485028 rs771461680 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19485055 19485056 rs529217134 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19485067 19485068 rs183330583 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19485089 19485090 rs205675 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.297128 0.245518 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4099.000000,909.000000, 0.818490,0.181510, maf-5-some-pop,maf-5-all-pops 733 chr21 19485092 19485093 rs761621291 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19485110 19485111 rs188787034 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19485131 19485132 rs551755151 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19485213 19485214 rs192675219 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 733 chr21 19485248 19485249 rs758216472 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19485273 19485274 rs765267620 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19485387 19485388 rs144247546 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 733 chr21 19485388 19485388 rs144044846 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.136847 0.222927 intron between 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,A, 4638.000000,370.000000, 0.926118,0.073882, maf-5-some-pop 733 chr21 19485390 19485391 rs1844892 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.227074 0.248947 intron exact 1 14 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 654.000000,4354.000000, 0.130591,0.869409, maf-5-some-pop 733 chr21 19485409 19485413 rs773867932 0 + CAAC CAAC -/CAAC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19485412 19485413 rs763159173 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19485432 19485433 rs766796546 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19485522 19485523 rs774387651 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19485525 19485526 rs531497228 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19485549 19485550 rs537534150 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,G, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19485565 19485566 rs142800116 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19485583 19485584 rs567826235 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19485590 19485591 rs143220180 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 733 chr21 19485591 19485592 rs553643620 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19485592 19485593 rs577887809 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19485618 19485621 rs200986861 0 + TGG TGG -/TGG genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 733 chr21 19485619 19485623 rs199500860 0 + GGTG GGTG -/GGTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron range 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,GGTG, 43.000000,4965.000000, 0.008586,0.991414, 733 chr21 19485620 19485621 rs539048282 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19485621 19485625 rs376116893 0 + TGGG TGGG -/TGGG genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19485647 19485648 rs370380038 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19485661 19485661 rs551133582 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.021724 0.101931 intron between 1 1 1000GENOMES, 2 -,C, 4953.000000,55.000000, 0.989018,0.010982, maf-5-some-pop 733 chr21 19485665 19485666 rs575769896 0 + G G G/T genomic single by-frequency,by-1000genomes 0.122922 0.215294 intron exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 781.000000,55.000000, 0.934211,0.065789, maf-5-some-pop 733 chr21 19485665 19485665 rs78801017 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 BGI, 0 733 chr21 19485666 19485667 rs377684457 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 733 chr21 19485666 19485666 rs36094590 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.265637 0.24951 intron between 1 MixedObserved 19 1000GENOMES,ABI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 781.000000,4172.000000, 0.157682,0.842318, maf-5-some-pop,maf-5-all-pops 733 chr21 19485667 19485667 rs141455194 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 PJP, 0 733 chr21 19485683 19485684 rs765990638 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19485717 19485718 rs543498220 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19485720 19485721 rs561758750 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19485750 19485751 rs188101096 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19485770 19485771 rs567916983 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19485847 19485848 rs372969857 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19485850 19485851 rs548583917 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19485866 19485867 rs754745758 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19485867 19485868 rs372872161 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19485869 19485870 rs148331282 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19485890 19485891 rs376198206 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19485927 19485927 rs753111097 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 733 chr21 19485973 19485974 rs551841294 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19485988 19485989 rs577454057 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19486018 19486019 rs367814268 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 5 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 0 733 chr21 19486024 19486025 rs568583544 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19486049 19486050 rs756461821 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486113 19486114 rs141445334 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19486115 19486116 rs79246552 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 G,T, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 733 chr21 19486148 19486149 rs749766375 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486162 19486163 rs191463014 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19486190 19486192 rs780736143 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486220 19486221 rs535241947 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19486231 19486232 rs546830714 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19486243 19486244 rs571616165 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19486257 19486258 rs375388291 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19486261 19486262 rs184774204 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19486292 19486293 rs205674 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.453331 0.145452 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1739.000000,3269.000000, 0.347244,0.652756, maf-5-some-pop,maf-5-all-pops 733 chr21 19486447 19486448 rs575607299 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19486454 19486455 rs746083195 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486469 19486470 rs150565364 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19486572 19486573 rs536610880 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19486694 19486695 rs9979190 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19486731 19486732 rs867122840 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19486761 19486762 rs140551985 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19486768 19486772 rs557487372 0 + TTAT TTAT -/TTAT genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486778 19486778 rs571186324 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 PADH-LAB_SPU,SSIP, 0 733 chr21 19486791 19486792 rs776264340 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486800 19486801 rs541232752 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19486823 19486824 rs763954877 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19486825 19486826 rs559579254 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19486838 19486839 rs13048707 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19486874 19486875 rs578033315 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19486891 19486892 rs577412529 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19486898 19486899 rs761619155 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486942 19486943 rs13052935 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19486943 19486944 rs13052504 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSAHASNP, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19486953 19486954 rs769507854 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19486963 19486964 rs559188374 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19486972 19486973 rs569485826 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19486973 19486974 rs182503386 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19486976 19486977 rs561436473 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487043 19487044 rs118183648 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 733 chr21 19487044 19487045 rs185112541 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487045 19487046 rs2101641 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 8 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 733 chr21 19487048 19487049 rs113718314 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 4952.000000,56.000000, 0.988818,0.011182, maf-5-some-pop 733 chr21 19487072 19487073 rs550845073 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19487075 19487076 rs569182064 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19487138 19487139 rs190407329 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19487150 19487151 rs373645366 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19487153 19487154 rs555024579 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19487191 19487192 rs181196900 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487201 19487202 rs139746553 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19487226 19487227 rs751158043 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19487238 19487239 rs185491447 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487247 19487248 rs577896542 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19487285 19487286 rs553737801 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487307 19487308 rs557314357 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487310 19487311 rs759241985 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19487341 19487342 rs575401516 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19487366 19487367 rs117158984 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 C,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 733 chr21 19487374 19487375 rs561116112 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19487393 19487394 rs752327822 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19487401 19487402 rs756438885 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19487415 19487416 rs205673 0 - T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.284209 0.247648 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 859.000000,4149.000000, 0.171526,0.828474, maf-5-some-pop,maf-5-all-pops 733 chr21 19487426 19487427 rs540306256 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487446 19487447 rs542219338 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19487452 19487453 rs532581318 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487467 19487468 rs2824630 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.487558 0.077886 intron exact 1 MixedObserved 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2899.000000,2109.000000, 0.578874,0.421126, maf-5-some-pop 733 chr21 19487467 19487468 rs373642758 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 LUNTER, 0 733 chr21 19487468 19487469 rs376581375 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19487490 19487491 rs778930651 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19487492 19487493 rs745992983 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19487501 19487502 rs569545612 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19487507 19487508 rs866284972 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19487537 19487538 rs575654892 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19487544 19487545 rs73312418 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19487545 19487546 rs189566014 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19487551 19487552 rs746459594 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19487593 19487594 rs145041920 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 733 chr21 19487644 19487645 rs180916975 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19487651 19487652 rs553120190 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19487671 19487672 rs368160991 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19487705 19487706 rs144878109 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487715 19487716 rs538839627 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487742 19487743 rs78050389 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19487748 19487749 rs576920946 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19487771 19487772 rs575534238 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19487776 19487777 rs117750126 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19487803 19487804 rs205672 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.220544 0.248259 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 632.000000,4376.000000, 0.126198,0.873802, maf-5-some-pop 733 chr21 19487822 19487823 rs148638789 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19487843 19487844 rs78830890 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19487844 19487845 rs77583366 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19487877 19487878 rs2824631 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.375996 0.215928 intron exact 1 23 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3751.000000,1257.000000, 0.749002,0.250998, maf-5-some-pop,maf-5-all-pops 733 chr21 19487907 19487908 rs771173713 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19487936 19487937 rs540180372 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19487948 19487949 rs565044664 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19487999 19488000 rs532433117 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19488043 19488044 rs544446706 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19488046 19488047 rs562939987 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19488067 19488068 rs530453678 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19488073 19488074 rs553379278 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19488102 19488103 rs368970841 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19488105 19488106 rs186187594 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19488106 19488107 rs762954769 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488127 19488128 rs771041715 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488182 19488183 rs2824632 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.479583 0.098954 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1998.000000,3010.000000, 0.398962,0.601038, maf-5-some-pop,maf-5-all-pops 733 chr21 19488218 19488219 rs759081134 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488234 19488235 rs773663213 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488248 19488249 rs142092053 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19488251 19488252 rs528115923 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19488257 19488258 rs766944356 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488267 19488268 rs77711451 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19488268 19488269 rs75924690 0 + T T A/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 A, 2.000000, 1.000000, 733 chr21 19488272 19488273 rs75570709 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,T, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 733 chr21 19488326 19488329 rs529171576 0 + TTC TTC -/TTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TTC, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19488394 19488395 rs151166638 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19488420 19488421 rs538726032 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19488422 19488423 rs760305773 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488424 19488425 rs550839761 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19488461 19488462 rs56230630 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.21725 0.247846 intron exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4387.000000,621.000000, 0.875998,0.124002, maf-5-some-pop 733 chr21 19488476 19488477 rs754239026 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488492 19488493 rs2824633 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.481319 0.094823 intron exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 2020.000000,2988.000000, 0.403355,0.596645, maf-5-some-pop,maf-5-all-pops 733 chr21 19488528 19488529 rs537935927 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19488538 19488539 rs554580146 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19488610 19488611 rs551216579 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19488613 19488614 rs112495773 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF, 2 C,T, 72.000000,4936.000000, 0.014377,0.985623, 733 chr21 19488617 19488619 rs147682135 0 + TC TC -/TC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 733 chr21 19488648 19488649 rs533943927 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19488657 19488658 rs372706710 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19488728 19488729 rs570505774 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19488751 19488752 rs145780887 0 + C C C/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,G, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19488769 19488770 rs146640124 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19488777 19488778 rs184202374 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19488804 19488805 rs750958204 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488810 19488811 rs80324088 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 733 chr21 19488825 19488826 rs2824634 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.48692 0.079806 intron exact 1 23 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2909.000000,2099.000000, 0.580871,0.419129, maf-5-some-pop,maf-5-all-pops 733 chr21 19488833 19488834 rs78861532 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 75.000000,4933.000000, 0.014976,0.985024, maf-5-some-pop 733 chr21 19488874 19488875 rs539612093 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19488909 19488910 rs2172220 0 - A A A/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 T, 420.000000, 1.000000, 733 chr21 19488910 19488911 rs150487065 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 733 chr21 19488949 19488950 rs546658339 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19488982 19488983 rs1491773 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499759 0.01098 intron exact 1 31 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2449.000000,2559.000000, 0.489018,0.510982, maf-5-some-pop,maf-5-all-pops 733 chr21 19488983 19488984 rs770882235 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19488999 19489000 rs532270891 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19489007 19489008 rs550386024 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489009 19489010 rs568897227 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489026 19489027 rs774368690 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489032 19489033 rs188360735 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19489083 19489084 rs771601178 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489086 19489087 rs76829176 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 C,T, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 733 chr21 19489097 19489098 rs573306339 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19489099 19489100 rs111457571 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 72.000000,4936.000000, 0.014377,0.985623, 733 chr21 19489115 19489116 rs112049782 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,G, 4936.000000,72.000000, 0.985623,0.014377, maf-5-some-pop 733 chr21 19489121 19489122 rs573532221 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19489134 19489135 rs776284118 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489167 19489168 rs762121919 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489197 19489198 rs76127742 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 75.000000,4933.000000, 0.014976,0.985024, maf-5-some-pop 733 chr21 19489203 19489204 rs75244619 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.111576 0.20818 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF, 2 A,G, 4711.000000,297.000000, 0.940695,0.059305, maf-5-some-pop 733 chr21 19489214 19489215 rs556405409 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489215 19489216 rs1491772 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.487495 0.078078 intron exact 1 27 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2108.000000,2900.000000, 0.420927,0.579073, maf-5-some-pop,maf-5-all-pops 733 chr21 19489216 19489217 rs575594371 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19489241 19489242 rs542066985 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489267 19489268 rs375666814 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19489269 19489270 rs560726712 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489275 19489276 rs766452890 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489315 19489316 rs865847840 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19489362 19489363 rs867957865 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19489369 19489370 rs572823608 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19489389 19489390 rs205669 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.025622 0.110247 intron exact 1 11 1000GENOMES,AFFY,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 65.000000,4943.000000, 0.012979,0.987021, 733 chr21 19489391 19489392 rs564905808 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489392 19489393 rs190645879 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19489400 19489401 rs564455671 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19489406 19489407 rs550519912 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489421 19489422 rs150194627 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19489428 19489429 rs529788559 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19489430 19489431 rs548132929 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19489466 19489467 rs566311236 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489476 19489477 rs138683698 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489498 19489499 rs112185397 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19489510 19489511 rs149348502 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489534 19489535 rs748390023 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489535 19489536 rs537856853 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19489579 19489580 rs143736365 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19489601 19489602 rs778913851 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489637 19489638 rs7278635 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.018594 0.094611 intron exact 1 7 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4961.000000,47.000000, 0.990615,0.009385, 733 chr21 19489650 19489651 rs138371613 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19489659 19489660 rs142823322 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19489689 19489690 rs572659145 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19489704 19489705 rs546382569 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19489714 19489715 rs147395014 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,T, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19489729 19489730 rs117201619 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 733 chr21 19489758 19489759 rs543914586 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19489808 19489809 rs562503556 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19489834 19489835 rs867121360 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19489904 19489905 rs771940120 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19489910 19489911 rs150266658 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.195526 0.243993 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 550.000000,4458.000000, 0.109824,0.890176, maf-5-some-pop 733 chr21 19489934 19489935 rs182526921 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19489963 19489964 rs541896391 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19489965 19489966 rs746452211 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19490023 19490028 rs531969148 0 + ATAAA ATAAA -/ATAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron range 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 -,ATAAA, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19490048 19490052 rs68074354 0 + AAAT AAAT -/AAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.479824 0.098392 intron range 1 10 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AAAT, 2001.000000,3007.000000, 0.399561,0.600439, maf-5-some-pop,maf-5-all-pops 733 chr21 19490051 19490052 rs201603658 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19490064 19490068 rs369869019 0 + CAAT CAAT -/CAAT genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 733 chr21 19490067 19490068 rs28451506 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.479502 0.099141 intron exact 1 14 1000GENOMES,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1997.000000,3011.000000, 0.398762,0.601238, maf-5-some-pop,maf-5-all-pops 733 chr21 19490091 19490092 rs551908357 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19490092 19490093 rs187232232 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19490138 19490139 rs570423768 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19490201 19490202 rs758283730 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19490206 19490207 rs78807840 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,C, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 733 chr21 19490214 19490215 rs542258414 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 733 chr21 19490229 19490230 rs568420889 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19490236 19490237 rs191316874 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19490262 19490264 rs145884913 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 2 1000GENOMES,LUNTER, 2 -,CT, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19490305 19490306 rs779784038 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19490309 19490310 rs114367177 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19490351 19490352 rs139787229 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19490371 19490372 rs564025526 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19490392 19490393 rs141761904 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19490431 19490432 rs558341296 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19490443 19490444 rs1491771 0 - T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.316968 0.240864 intron exact 1 21 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 4019.000000,989.000000, 0.802516,0.197484, maf-5-some-pop,maf-5-all-pops 733 chr21 19490457 19490458 rs754487920 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19490460 19490461 rs76624332 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19490476 19490477 rs205668 0 - A A G/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 2 KWOK,SC_JCM, 1 T, 420.000000, 1.000000, 733 chr21 19490477 19490478 rs549869835 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19490511 19490512 rs369282984 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 733 chr21 19490520 19490521 rs529004874 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19490523 19490524 rs17002337 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.019377 0.096505 intron exact 1 2 1000GENOMES,PERLEGEN, 2 C,T, 49.000000,4959.000000, 0.009784,0.990216, maf-5-some-pop 733 chr21 19490526 19490527 rs183706238 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19490588 19490589 rs765571789 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19490599 19490600 rs773632567 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19490631 19490632 rs548905663 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19490643 19490644 rs139484043 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 42.000000,4966.000000, 0.008387,0.991613, 733 chr21 19490697 19490698 rs559820692 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19490757 19490758 rs527345522 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19490765 19490766 rs78658367 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 733 chr21 19490767 19490768 rs79931458 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 733 chr21 19490792 19490793 rs545633371 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19490808 19490809 rs752140534 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19490811 19490812 rs563934495 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19490827 19490828 rs2824635 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.471673 0.115589 intron exact 1 28 1000GENOMES,ABI,AFFY,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3100.000000,1908.000000, 0.619010,0.380990, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19490830 19490831 rs771531859 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19490836 19490837 rs767721762 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19490845 19490846 rs550033562 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19490891 19490892 rs746171377 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19490892 19490893 rs2026860 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.022114 0.102801 intron exact 1 5 1000GENOMES,ABI,AFFY,PERLEGEN,TSC-CSHL, 2 C,T, 56.000000,4952.000000, 0.011182,0.988818, maf-5-some-pop 733 chr21 19490896 19490897 rs76725140 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19490910 19490911 rs146224394 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 29.000000,4979.000000, 0.005791,0.994209, 733 chr21 19490975 19490980 rs775643610 0 + AACTA AACTA -/AACTA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19491005 19491006 rs77641842 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19491027 19491028 rs756475351 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491039 19491040 rs539938829 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19491052 19491053 rs552033680 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19491094 19491095 rs570219493 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19491116 19491117 rs562182283 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19491123 19491124 rs73312422 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.080715 0.183963 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 211.000000,4797.000000, 0.042133,0.957867, maf-5-some-pop 733 chr21 19491137 19491138 rs188007531 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19491138 19491139 rs75858467 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4717.000000,291.000000, 0.941893,0.058107, maf-5-some-pop 733 chr21 19491163 19491164 rs758231445 0 + C C A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19491171 19491172 rs768695377 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19491176 19491176 rs765288274 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491182 19491183 rs779813547 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491221 19491222 rs553343970 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19491223 19491224 rs571855046 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19491233 19491234 rs761644022 0 + C C C/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 733 chr21 19491233 19491233 rs776838362 0 + - - -/CCTTCCATCTC genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA_DECODE, 0 733 chr21 19491241 19491242 rs112079856 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19491261 19491262 rs746966803 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491275 19491276 rs765165382 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19491276 19491277 rs545469128 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491296 19491297 rs2824636 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.409212 0.192748 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3571.000000,1437.000000, 0.713059,0.286941, maf-5-some-pop 733 chr21 19491301 19491302 rs9976869 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496245 0.043168 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2287.000000,2721.000000, 0.456669,0.543331, maf-5-some-pop,maf-5-all-pops 733 chr21 19491305 19491306 rs543222872 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19491324 19491325 rs562015817 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491340 19491341 rs139163541 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19491341 19491342 rs547850263 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19491343 19491344 rs747793827 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491362 19491363 rs559764491 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19491370 19491371 rs193085945 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19491385 19491386 rs551923490 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491390 19491391 rs536155778 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19491400 19491401 rs539462714 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19491426 19491427 rs772874554 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491466 19491467 rs570026940 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491483 19491484 rs537655131 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491487 19491488 rs763189721 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491500 19491501 rs771333416 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491524 19491525 rs774666723 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491566 19491567 rs556120825 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491574 19491575 rs549271768 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491627 19491628 rs78640281 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.110167 0.207236 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4715.000000,293.000000, 0.941494,0.058506, maf-5-some-pop 733 chr21 19491646 19491647 rs77963375 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.099159 0.199366 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 2 C,T, 4746.000000,262.000000, 0.947684,0.052316, maf-5-some-pop 733 chr21 19491655 19491656 rs185880611 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491663 19491664 rs2255835 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.470908 0.117046 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3108.000000,1900.000000, 0.620607,0.379393, maf-5-some-pop,maf-5-all-pops 733 chr21 19491683 19491684 rs368225922 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19491697 19491698 rs189812562 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19491705 19491706 rs557853934 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19491732 19491733 rs576005171 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19491747 19491748 rs754118958 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491763 19491764 rs758059193 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491773 19491774 rs765107477 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491792 19491793 rs543610533 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491847 19491848 rs555499540 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19491849 19491850 rs754974559 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491870 19491871 rs111663829 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 A, 1.000000, 1.000000, 733 chr21 19491888 19491889 rs73198576 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19491894 19491895 rs747608597 0 + T T A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19491918 19491919 rs183868221 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19491921 19491922 rs796203881 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19491923 19491924 rs541319905 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491950 19491951 rs559654491 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19491956 19491957 rs533389422 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491958 19491959 rs867884930 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19491976 19491977 rs545027598 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19491981 19491982 rs563814700 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19492037 19492038 rs376727875 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19492041 19492046 rs562682394 0 + AACAT AACAT -/AACAT genomic deletion by-frequency,by-1000genomes 0.007559 0.061011 intron range 1 1 1000GENOMES, 2 -,AACAT, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19492043 19492048 rs368907046 0 + CATAA CATAA -/CATAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19492049 19492050 rs868532887 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19492066 19492067 rs188450468 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19492069 19492069 rs35393560 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19492094 19492095 rs748985411 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492096 19492097 rs567734968 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19492108 19492109 rs528792972 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19492119 19492120 rs771189972 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492145 19492146 rs205667 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.41833 0.184838 intron exact 1 34 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 1492.000000,3516.000000, 0.297923,0.702077, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19492168 19492169 rs113238672 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19492199 19492200 rs146593785 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19492217 19492218 rs557425416 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19492218 19492219 rs759933754 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492222 19492223 rs115090294 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 733 chr21 19492229 19492230 rs536742130 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19492239 19492240 rs772407181 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19492246 19492247 rs776159909 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492249 19492250 rs555572898 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19492338 19492339 rs573898885 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19492339 19492340 rs141439019 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19492357 19492358 rs181301878 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 733 chr21 19492376 19492377 rs142480048 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19492386 19492387 rs545427371 0 + C C A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19492393 19492394 rs573545571 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492399 19492400 rs766081900 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492430 19492431 rs114349608 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19492451 19492452 rs747227767 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19492501 19492502 rs76202267 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.104504 0.2033 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 2 A,C, 4731.000000,277.000000, 0.944688,0.055312, maf-5-some-pop 733 chr21 19492524 19492525 rs768981853 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19492555 19492557 rs146641090 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.104504 0.2033 intron range 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,AG, 277.000000,4731.000000, 0.055312,0.944688, maf-5-some-pop 733 chr21 19492588 19492589 rs78040631 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.098801 0.199095 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF, 2 G,T, 4747.000000,261.000000, 0.947883,0.052117, maf-5-some-pop 733 chr21 19492597 19492598 rs561011713 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19492617 19492618 rs75617631 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 733 chr21 19492653 19492654 rs546740197 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19492678 19492679 rs776732912 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19492735 19492736 rs76035742 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.108402 0.206034 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP, 2 C,T, 288.000000,4720.000000, 0.057508,0.942492, maf-5-some-pop 733 chr21 19492737 19492737 rs150162059 0 + - - -/GTTTTT genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19492806 19492807 rs752637598 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492815 19492816 rs755564682 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492855 19492856 rs532656079 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19492865 19492866 rs777403091 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492870 19492871 rs17002345 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.203882 0.245709 intron exact 1 17 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4431.000000,577.000000, 0.884784,0.115216, maf-5-some-pop 733 chr21 19492910 19492911 rs569536208 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19492932 19492933 rs537018899 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19492954 19492955 rs773151275 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19492957 19492958 rs756977770 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19492958 19492959 rs116551332 0 + A A A/G genomic single by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4959.000000,49.000000, 0.990216,0.009784, 733 chr21 19492960 19492961 rs567326357 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19492978 19492979 rs562261044 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19492987 19492988 rs112504769 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 C, 1.000000, 1.000000, 733 chr21 19492991 19492992 rs772591788 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19493000 19493001 rs553195763 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19493002 19493003 rs547649614 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19493026 19493027 rs370502576 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19493066 19493067 rs116869810 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 733 chr21 19493070 19493071 rs557357956 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19493072 19493073 rs745755380 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 5 DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19493084 19493085 rs370947672 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 733 chr21 19493085 19493085 rs10694595 0 + - - -/TAATG genomic insertion by-cluster,by-frequency,by-1000genomes 0.459233 0.136827 intron between 1 14 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,TAATG, 1789.000000,3219.000000, 0.357228,0.642772, maf-5-some-pop,maf-5-all-pops 733 chr21 19493086 19493086 rs67186403 0 + - - -/TAATG genomic insertion unknown 0 0 intron between 1 1 PJP, 0 733 chr21 19493090 19493091 rs199819470 0 + G G G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19493090 19493090 rs397796935 0 + - - -/TAATG genomic insertion by-cluster 0 0 intron between 1 MixedObserved 3 BCMHGSC_JDW,GMI,HGSV, 0 733 chr21 19493092 19493093 rs367963177 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19493100 19493101 rs547565347 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19493128 19493129 rs768841950 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19493179 19493180 rs776835710 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19493184 19493185 rs368240749 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19493216 19493217 rs205666 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.303688 0.244167 intron exact 1 32 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4073.000000,935.000000, 0.813299,0.186701, maf-5-some-pop,maf-5-all-pops 733 chr21 19493284 19493285 rs868063515 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19493301 19493302 rs773339095 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19493315 19493316 rs529543485 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19493344 19493345 rs374471322 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19493357 19493358 rs542979314 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19493362 19493363 rs368686494 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19493377 19493378 rs767137644 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19493385 19493386 rs752295036 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19493467 19493468 rs755604014 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19493485 19493486 rs759259924 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19493487 19493488 rs561050233 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19493512 19493513 rs191209255 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,DDI,WEILL_CORNELL_DGM, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19493563 19493564 rs540462876 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19493565 19493566 rs767314788 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19493597 19493598 rs6517796 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.426047 0.177503 intron exact 1 19 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3467.000000,1541.000000, 0.692292,0.307708, maf-5-some-pop,maf-5-all-pops 733 chr21 19493612 19493615 rs372259895 0 + GAA GAA -/GAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19493621 19493622 rs28697908 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.279195 0.248289 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 840.000000,4168.000000, 0.167732,0.832268, maf-5-some-pop,maf-5-all-pops 733 chr21 19493661 19493662 rs551008268 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19493691 19493692 rs73198579 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.150667 0.229419 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4597.000000,411.000000, 0.917931,0.082069, maf-5-some-pop 733 chr21 19493714 19493715 rs530430565 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19493758 19493759 rs1491785 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.422944 0.180528 intron exact 1 23 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1521.000000,3487.000000, 0.303714,0.696286, maf-5-some-pop,maf-5-all-pops 733 chr21 19493771 19493772 rs555603235 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19493790 19493792 rs754651835 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19493798 19493799 rs747317645 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19493802 19493803 rs181924051 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19493820 19493821 rs76080329 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19493851 19493852 rs546846134 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19493853 19493853 rs145984419 0 + - - -/CTG genomic insertion by-cluster,by-frequency,by-1000genomes 0.284209 0.247648 intron between 1 9 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,CTG, 4149.000000,859.000000, 0.828474,0.171526, maf-5-some-pop,maf-5-all-pops 733 chr21 19493855 19493855 rs10663711 0 + - - -/GCT genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 733 chr21 19493867 19493868 rs571451015 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19493889 19493890 rs756743642 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19493905 19493910 rs562620971 0 + TAACT TAACT -/TAACT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TAACT, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19493915 19493916 rs538792087 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19493929 19493930 rs187426904 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19493952 19493953 rs575448782 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19494012 19494013 rs376144832 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19494015 19494016 rs536257521 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19494019 19494020 rs1491786 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463559 0.129972 intron exact 1 22 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3180.000000,1828.000000, 0.634984,0.365016, maf-5-some-pop,maf-5-all-pops 733 chr21 19494074 19494080 rs748338712 0 + TAACTC TAACTC -/TAACTC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19494085 19494086 rs575651907 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19494086 19494087 rs116783471 0 + C C A/C genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 733 chr21 19494161 19494162 rs565006008 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19494173 19494174 rs769894527 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19494201 19494202 rs577390273 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19494229 19494230 rs190501451 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19494237 19494238 rs544746628 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19494270 19494271 rs2824638 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.128976 0.218754 intron exact 1 16 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 347.000000,4661.000000, 0.069289,0.930711, maf-5-some-pop 733 chr21 19494281 19494282 rs558008625 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19494282 19494283 rs780620517 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19494348 19494349 rs553883968 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19494358 19494359 rs183111048 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19494359 19494360 rs747511447 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19494379 19494380 rs573812129 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19494402 19494403 rs9976279 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.054725 0.156101 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4867.000000,141.000000, 0.971845,0.028155, maf-5-some-pop 733 chr21 19494413 19494414 rs9976284 0 + A A A/G genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 A, 420.000000, 1.000000, 733 chr21 19494415 19494416 rs748208991 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19494428 19494429 rs560846547 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19494460 19494461 rs60456041 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.098443 0.198823 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 260.000000,4748.000000, 0.051917,0.948083, maf-5-some-pop 733 chr21 19494501 19494502 rs187612487 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19494520 19494521 rs199535615 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19494521 19494521 rs151304735 0 + - - -/TTTGT genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 0 733 chr21 19494524 19494524 rs57001459 0 + - - -/GTTTT genomic insertion by-cluster 0 0 intron between 1 2 GMI,HGSV, 0 733 chr21 19494530 19494531 rs571291532 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19494583 19494584 rs538458444 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19494602 19494603 rs190188675 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19494618 19494619 rs374662989 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,C, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19494633 19494634 rs867945472 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19494642 19494643 rs17697343 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.019377 0.096505 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4959.000000,49.000000, 0.990216,0.009784, 733 chr21 19494656 19494657 rs115072209 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19494732 19494733 rs572885425 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19494748 19494749 rs2824639 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.45843 0.138046 intron exact 1 21 1000GENOMES,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1782.000000,3226.000000, 0.355831,0.644169, maf-5-some-pop 733 chr21 19494754 19494755 rs183433455 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19494755 19494756 rs150397860 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,SSMP,TISHKOFF, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 733 chr21 19494774 19494775 rs868538902 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19494807 19494808 rs764047474 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19494866 19494866 rs541108829 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.498693 0.025526 intron between 1 7 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP, 2 -,T, 2376.000000,2632.000000, 0.474441,0.525559, maf-5-some-pop,maf-5-all-pops 733 chr21 19494867 19494867 rs11415506 0 + - - -/T genomic insertion by-cluster 0.5 0 intron between 1 4 BGI,BUSHMAN,GMI,PJP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19494877 19494877 rs397785538 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 GMI,HGSV, 0 733 chr21 19494886 19494887 rs544353896 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19494896 19494897 rs544523010 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19494954 19494955 rs377206144 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19494962 19494963 rs556713740 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19494968 19494969 rs75989350 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.068189 0.171594 intron exact 1 9 1000GENOMES,BGI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4831.000000,177.000000, 0.964657,0.035343, maf-5-some-pop 733 chr21 19495017 19495018 rs764664105 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495039 19495040 rs750084700 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495046 19495047 rs758189604 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495071 19495072 rs780534454 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495072 19495073 rs187591216 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19495088 19495089 rs755320466 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495090 19495091 rs781675393 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19495092 19495093 rs2824640 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497907 0.03228 intron exact 1 23 1000GENOMES,AFFY,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2342.000000,2666.000000, 0.467652,0.532348, maf-5-some-pop 733 chr21 19495099 19495100 rs769904962 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495101 19495102 rs528113932 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19495105 19495106 rs192722034 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19495120 19495121 rs777897884 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495146 19495147 rs183683591 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19495161 19495162 rs542677089 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19495173 19495174 rs771195410 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495185 19495186 rs868126429 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19495186 19495187 rs746019891 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 733 chr21 19495217 19495218 rs756776852 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19495218 19495219 rs550547024 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19495256 19495257 rs569009350 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19495257 19495258 rs115189600 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19495285 19495286 rs548102921 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19495292 19495293 rs566384328 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19495320 19495321 rs774581998 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495327 19495328 rs760482539 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495359 19495360 rs768336520 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495370 19495371 rs533941900 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19495390 19495391 rs776569947 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495438 19495439 rs187830278 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19495443 19495444 rs761711416 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495468 19495469 rs867193312 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19495495 19495496 rs570906935 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19495505 19495506 rs564167402 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19495530 19495531 rs538317620 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19495550 19495551 rs764796862 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495575 19495576 rs556516708 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19495612 19495613 rs559198208 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19495619 19495620 rs549261674 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19495628 19495629 rs533055542 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19495645 19495646 rs574994923 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19495656 19495660 rs377417967 0 + ACAA ACAA -/ACAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron range 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,SSMP, 2 -,ACAA, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19495691 19495692 rs17780089 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.123452 0.215605 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4677.000000,331.000000, 0.933906,0.066094, maf-5-some-pop 733 chr21 19495713 19495714 rs192605652 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19495756 19495757 rs572734445 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19495794 19495795 rs531901317 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19495831 19495832 rs205690 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.381891 0.212379 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3721.000000,1287.000000, 0.743011,0.256989, maf-5-some-pop 733 chr21 19495876 19495877 rs564893260 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19495884 19495885 rs532135464 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19495905 19495906 rs751287295 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19495988 19495989 rs138404991 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 733 chr21 19495993 19495994 rs748366420 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19496023 19496024 rs571285991 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19496035 19496036 rs2150385 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.489201 0.072685 intron exact 1 24 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2136.000000,2872.000000, 0.426518,0.573482, maf-5-some-pop,maf-5-all-pops,microattr-tpa 733 chr21 19496045 19496046 rs529842783 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19496103 19496104 rs375422894 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19496107 19496108 rs749322664 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19496142 19496143 rs753246041 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496151 19496152 rs201305838 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19496152 19496153 rs756621614 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496180 19496181 rs367607159 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 733 chr21 19496181 19496182 rs566470224 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19496188 19496189 rs777811550 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496222 19496223 rs184273240 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19496247 19496248 rs371863897 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 733 chr21 19496256 19496257 rs375163092 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19496265 19496266 rs547409704 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19496270 19496271 rs537818416 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19496271 19496272 rs556641981 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19496274 19496275 rs375062886 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19496315 19496316 rs189087503 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19496329 19496330 rs771034259 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496343 19496344 rs59590732 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 733 chr21 19496373 19496374 rs142400912 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19496374 19496375 rs771137872 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19496402 19496402 rs199550709 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron between 1 2 1000GENOMES,TISHKOFF, 2 -,A, 4980.000000,28.000000, 0.994409,0.005591, 733 chr21 19496428 19496429 rs17836106 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.174932 0.238463 intron exact 1 19 1000GENOMES,AFFY,BGI,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 485.000000,4523.000000, 0.096845,0.903155, maf-5-some-pop,genotype-conflict 733 chr21 19496444 19496445 rs572823650 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19496448 19496449 rs745843527 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19496451 19496452 rs540103156 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19496465 19496466 rs746088068 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496470 19496471 rs570007491 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19496482 19496483 rs558302208 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19496537 19496538 rs372157652 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19496552 19496553 rs17836112 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.176861 0.239062 intron exact 1 18 1000GENOMES,AFFY,BGI,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 491.000000,4517.000000, 0.098043,0.901957, maf-5-some-pop,genotype-conflict 733 chr21 19496563 19496564 rs191658903 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496595 19496596 rs2131050 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.055478 0.157039 intron exact 1 18 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 733 chr21 19496638 19496639 rs562614287 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19496649 19496650 rs73198587 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.175254 0.238565 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4522.000000,486.000000, 0.902955,0.097045, maf-5-some-pop,maf-5-all-pops 733 chr21 19496694 19496695 rs376729903 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19496703 19496704 rs541669602 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19496704 19496705 rs559896608 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19496730 19496731 rs146984249 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19496758 19496759 rs538538051 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496782 19496783 rs552463032 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19496797 19496798 rs564199503 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19496838 19496839 rs766000846 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496915 19496916 rs531733167 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19496921 19496922 rs867827779 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19496928 19496929 rs184891525 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19496931 19496932 rs549864541 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19496939 19496940 rs568606501 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19496946 19496947 rs1028268 0 - T T A/C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.097727 0.198275 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 17 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4750.000000,258.000000, 0.948482,0.051518, maf-5-some-pop 733 chr21 19496976 19496977 rs189006448 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19496980 19496981 rs767894596 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19496983 19496983 rs200754126 0 + - - -/A genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19496985 19496985 rs72550493 0 + - - -/AAC/ACA genomic insertion by-cluster,by-frequency,by-1000genomes 0.178465 0.239547 intron between 1 InconsistentAlleles 11 1000GENOMES,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,AAC, 4512.000000,496.000000, 0.900958,0.099041, maf-5-some-pop,maf-5-all-pops 733 chr21 19496986 19496986 rs3077916 0 + - - -/ACA genomic insertion by-cluster 0 0 intron between 1 2 TISHKOFF,TSC-CSHL, 0 733 chr21 19496993 19496994 rs548038646 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19497037 19497038 rs373106304 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19497038 19497039 rs138072659 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19497089 19497090 rs764548240 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497105 19497106 rs180967103 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19497130 19497131 rs73198588 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.107341 0.205301 intron exact 1 MixedObserved 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,C, 285.000000,4723.000000, 0.056909,0.943091, maf-5-some-pop 733 chr21 19497130 19497133 rs386816736 0 + CCG CCG ACT/CCG genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19497131 19497132 rs113073505 0 + C C A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19497132 19497133 rs2824641 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.469247 0.120128 intron exact 1 20 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3125.000000,1883.000000, 0.624002,0.375998, maf-5-some-pop,maf-5-all-pops 733 chr21 19497159 19497160 rs574544099 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19497207 19497208 rs779018668 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497208 19497209 rs537888757 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19497275 19497276 rs752036752 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19497288 19497289 rs555737910 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19497305 19497306 rs574220555 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19497308 19497309 rs767915209 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19497311 19497312 rs541510987 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19497313 19497314 rs559784600 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19497404 19497405 rs12626206 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.174932 0.238463 intron exact 1 22 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4523.000000,485.000000, 0.903155,0.096845, maf-5-some-pop 733 chr21 19497429 19497430 rs545634966 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19497433 19497434 rs115710837 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 733 chr21 19497472 19497473 rs531495123 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19497491 19497492 rs376200162 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19497515 19497516 rs562937798 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497520 19497521 rs562039882 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19497530 19497531 rs773217435 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497548 19497549 rs749296336 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497605 19497606 rs12627697 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.174932 0.238463 intron exact 1 23 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 485.000000,4523.000000, 0.096845,0.903155, maf-5-some-pop 733 chr21 19497655 19497656 rs773776462 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497681 19497682 rs547926005 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19497708 19497709 rs749550359 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19497764 19497767 rs772494206 0 + ACA ACA -/ACA genomic deletion by-cluster 0 0 intron range 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497782 19497783 rs759207424 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497810 19497811 rs187070731 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19497820 19497821 rs533582785 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19497821 19497822 rs757392086 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19497825 19497826 rs767031861 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497855 19497856 rs77779037 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.115088 0.210473 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 307.000000,4701.000000, 0.061302,0.938698, maf-5-some-pop 733 chr21 19497906 19497910 rs199942281 0 + TTAA TTAA -/TTAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.006011 0.054491 intron range 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 -,TTAA, 15.000000,4961.000000, 0.003014,0.996986, 733 chr21 19497910 19497910 rs570837829 0 + - - -/TTAA genomic insertion by-frequency,by-1000genomes 0.012736 0.078776 intron between 1 1 1000GENOMES, 2 -,TTAA, 4961.000000,32.000000, 0.993591,0.006409, 733 chr21 19497925 19497926 rs11088665 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.204189 0.245767 intron exact 1 MixedObserved 13 1000GENOMES,ABI,BGI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4430.000000,578.000000, 0.884585,0.115415, maf-5-some-pop,maf-5-all-pops 733 chr21 19497925 19497925 rs576098076 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.002792 0.037256 intron between 1 MixedObserved 1 1000GENOMES, 2 -,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19497951 19497952 rs764451829 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19497963 19497964 rs563295674 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 733 chr21 19497992 19497993 rs537323028 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19498006 19498007 rs555776982 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19498012 19498013 rs796964566 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 733 chr21 19498031 19498032 rs754326793 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498046 19498047 rs567735434 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19498047 19498048 rs535057200 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19498112 19498113 rs10084558 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.05246 0.153226 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 135.000000,4873.000000, 0.026957,0.973043, maf-5-some-pop 733 chr21 19498207 19498208 rs750516293 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498222 19498223 rs35293388 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19498286 19498287 rs370421103 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19498314 19498315 rs771962436 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19498338 19498339 rs149507671 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19498353 19498354 rs546018114 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19498357 19498358 rs758526351 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498368 19498369 rs77693383 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 733 chr21 19498376 19498377 rs747259006 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498400 19498401 rs189380944 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19498418 19498419 rs780058452 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19498428 19498429 rs540165755 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19498455 19498456 rs867585300 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19498506 19498506 rs574545357 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,C, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19498507 19498508 rs374250260 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,C, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19498521 19498522 rs144193456 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19498537 19498538 rs12627499 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.066703 0.170006 intron exact 1 12 1000GENOMES,ABI,BGI,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4835.000000,173.000000, 0.965455,0.034545, maf-5-some-pop 733 chr21 19498539 19498540 rs148268943 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 733 chr21 19498554 19498555 rs867553394 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19498561 19498562 rs749208332 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498585 19498586 rs771043689 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498589 19498590 rs774370526 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498634 19498635 rs745333006 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498677 19498678 rs771619773 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498681 19498683 rs368178318 0 + TA TA -/TA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19498711 19498712 rs774952792 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498750 19498751 rs564295109 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19498765 19498766 rs182033526 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19498766 19498767 rs76302025 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19498767 19498768 rs205691 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.122411 0.214991 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 328.000000,4680.000000, 0.065495,0.934505, maf-5-some-pop 733 chr21 19498785 19498786 rs570135351 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19498809 19498810 rs73198594 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.152334 0.230133 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 416.000000,4592.000000, 0.083067,0.916933, maf-5-some-pop 733 chr21 19498863 19498864 rs761499958 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19498879 19498880 rs549291503 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19498898 19498899 rs765614200 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19498912 19498913 rs567576135 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19498913 19498914 rs112117170 0 + T T -/T genomic deletion by-cluster 0.5 0 intron exact 1 3 BUSHMAN,EVA_GENOME_DK,GMI, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19498923 19498924 rs199743150 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19498925 19498926 rs79462520 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19498982 19498983 rs535092558 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19498992 19498993 rs750972765 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499017 19499018 rs569737998 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499032 19499033 rs141158906 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499033 19499034 rs766493958 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499046 19499047 rs17002351 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.05961 0.162024 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 154.000000,4854.000000, 0.030751,0.969249, maf-5-some-pop 733 chr21 19499065 19499066 rs539134835 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499070 19499071 rs73312436 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 4975.000000,33.000000, 0.993411,0.006589, maf-5-some-pop 733 chr21 19499086 19499087 rs146175159 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499090 19499091 rs755290264 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499123 19499124 rs186061476 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19499125 19499125 rs772660864 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 733 chr21 19499143 19499144 rs12481865 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.193966 0.243639 intron exact 1 21 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4463.000000,545.000000, 0.891174,0.108826, maf-5-some-pop,maf-5-all-pops 733 chr21 19499144 19499145 rs190828897 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499186 19499187 rs139203370 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499206 19499206 rs35901485 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19499210 19499211 rs182793463 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19499231 19499232 rs767854144 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19499233 19499234 rs533502798 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499260 19499261 rs778645107 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499276 19499277 rs545190256 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499297 19499298 rs745827483 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499298 19499299 rs144021538 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19499299 19499300 rs771474146 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499350 19499351 rs186606543 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19499351 19499352 rs73200955 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.118235 0.212457 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4692.000000,316.000000, 0.936901,0.063099, maf-5-some-pop 733 chr21 19499383 19499384 rs746637276 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499407 19499408 rs561284862 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19499409 19499410 rs190655933 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19499468 19499469 rs547015071 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499478 19499480 rs796544155 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499478 19499478 rs34610171 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved 13 1000GENOMES,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19499479 19499480 rs201400878 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19499479 19499479 rs397771082 0 + - - -/A/AT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 5 ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,HUMANGENOME_JCVI, 1 A, 2.000000, 1.000000, 733 chr21 19499480 19499481 rs199714381 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19499480 19499480 rs869147484 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 733 chr21 19499489 19499490 rs145967269 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 4 1000GENOMES,EVA_DECODE,HAMMER_LAB,TISHKOFF, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 733 chr21 19499496 19499497 rs562471424 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 -,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19499497 19499498 rs750395379 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499498 19499499 rs78042696 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,ENSEMBL, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19499498 19499499 rs796602938 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 HAMMER_LAB, 0 733 chr21 19499498 19499498 rs547970835 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.361053 0.22398 intron between 1 DuplicateObserved 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,T, 3824.000000,1184.000000, 0.763578,0.236422, maf-5-some-pop,maf-5-all-pops 733 chr21 19499499 19499499 rs147911926 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 3 1000GENOMES,GMI,LUNTER, 0 733 chr21 19499506 19499507 rs377194814 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19499574 19499575 rs139934393 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19499587 19499588 rs569684422 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19499615 19499616 rs373502181 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19499617 19499618 rs551906791 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19499622 19499623 rs754083447 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19499646 19499647 rs10084564 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4852.000000,156.000000, 0.968850,0.031150, maf-5-some-pop 733 chr21 19499669 19499670 rs34303458 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19499707 19499708 rs574012622 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19499761 19499762 rs376848067 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19499799 19499800 rs149819914 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19499813 19499814 rs553198415 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19499847 19499848 rs574419698 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19499878 19499883 rs779124178 0 + TAAAG TAAAG -/TAAAG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19499897 19499898 rs182949323 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19499903 19499904 rs868273608 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19499952 19499953 rs543129423 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19499978 19499979 rs73200957 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.111928 0.208413 intron exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4710.000000,298.000000, 0.940495,0.059505, maf-5-some-pop 733 chr21 19499985 19499986 rs867952818 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19499988 19499989 rs374577446 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 733 chr21 19499989 19499990 rs10048875 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 PJP,WI_SSAHASNP, 0 733 chr21 19499989 19499989 rs71318127 0 + - - -/T genomic insertion unknown 0.5 0 intron between 1 MixedObserved 1 HUMANGENOME_JCVI, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19500045 19500046 rs563642687 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500063 19500064 rs9974973 0 + G G A/G genomic single by-cluster,by-hapmap 0.004728 0.048391 intron exact 1 3 HUMANGENOME_JCVI,PJP,WUGSC_SSAHASNP, 2 A,G, 1.000000,421.000000, 0.002370,0.997630, 733 chr21 19500095 19500096 rs369056738 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,C, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19500099 19500100 rs143010380 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 PJP, 0 733 chr21 19500106 19500107 rs542858215 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500117 19500118 rs73200958 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.108755 0.206276 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 289.000000,4719.000000, 0.057708,0.942292, maf-5-some-pop 733 chr21 19500136 19500137 rs528790965 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19500206 19500207 rs546994030 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500221 19500222 rs186766136 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19500222 19500223 rs796556199 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19500241 19500242 rs779819697 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19500244 19500245 rs71319671 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19500264 19500265 rs117062557 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19500289 19500290 rs763584215 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19500306 19500307 rs766337601 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19500328 19500329 rs192447943 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500336 19500337 rs370642855 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19500346 19500347 rs1688194 0 + T T G/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 MixedObserved 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19500346 19500358 rs386816737 0 + TTGGCTCATGCT TTGGCTCATGCT GTGGCTCATGCC/TTGGCTCATGCT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 733 chr21 19500350 19500351 rs111476666 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.109108 0.206518 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 290.000000,4718.000000, 0.057907,0.942093, maf-5-some-pop 733 chr21 19500357 19500358 rs205692 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.385168 0.210309 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3704.000000,1304.000000, 0.739617,0.260383, maf-5-some-pop,maf-5-all-pops 733 chr21 19500358 19500359 rs567484566 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19500422 19500423 rs752969250 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19500425 19500426 rs541373942 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19500433 19500434 rs11088666 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.5 0.000399 intron exact 1 18 1000GENOMES,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 2506.000000,2502.000000, 0.500399,0.499601, maf-5-some-pop,maf-5-all-pops 733 chr21 19500461 19500461 rs547618199 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 intron between 1 1 1000GENOMES, 2 -,A, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19500471 19500472 rs59905100 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,LUNTER,SSMP, 0 733 chr21 19500477 19500478 rs552998919 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19500479 19500480 rs577830422 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19500480 19500481 rs142441099 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19500485 19500486 rs530146371 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19500490 19500491 rs113874090 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.10237 0.201756 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 271.000000,4737.000000, 0.054113,0.945887, maf-5-some-pop 733 chr21 19500517 19500518 rs575360001 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19500532 19500533 rs113399963 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 136.000000,4872.000000, 0.027157,0.972843, maf-5-some-pop 733 chr21 19500548 19500549 rs532501235 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19500549 19500550 rs573121451 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500552 19500553 rs377532902 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 7 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19500558 19500559 rs565446684 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500595 19500596 rs532830860 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19500608 19500609 rs150313704 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 BL, 0 733 chr21 19500610 19500611 rs205693 0 + C C C/T genomic single unknown 0 0 intron exact 1 3 ABI,KWOK,SC_JCM, 0 733 chr21 19500613 19500630 rs752978497 0 + AAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA -/AAAAAAAAAAAAAAAAA genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 733 chr21 19500652 19500653 rs200689223 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19500655 19500656 rs57453692 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 BCM-HGSC-SUB,GMI,HGSV,WEILL_CORNELL_DGM, 0 733 chr21 19500656 19500658 rs71189585 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 733 chr21 19500658 19500659 rs201371047 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19500660 19500661 rs138658196 0 + A A A/G genomic single by-frequency,by-1000genomes 0.037988 0.132479 intron exact 1 1 1000GENOMES, 2 A,G, 4911.000000,97.000000, 0.980631,0.019369, maf-5-some-pop 733 chr21 19500661 19500662 rs199579254 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19500689 19500690 rs73200961 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 2.000000,2.000000, 0.500000,0.500000, maf-5-some-pop,maf-5-all-pops 733 chr21 19500695 19500696 rs113082962 0 + G G C/G genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19500710 19500710 rs754312411 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 733 chr21 19500730 19500731 rs35822188 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19500735 19500736 rs563259131 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19500768 19500769 rs559704001 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 733 chr21 19500772 19500773 rs565407412 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 -,G, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19500789 19500790 rs762282218 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19500805 19500806 rs114757228 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4850.000000,158.000000, 0.968450,0.031549, maf-5-some-pop 733 chr21 19500807 19500808 rs368030811 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,C, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19500833 19500834 rs528287054 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500853 19500854 rs183439733 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500893 19500894 rs567947433 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19500928 19500929 rs372160073 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 733 chr21 19500932 19500933 rs747812445 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19500954 19500955 rs538900254 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19500955 19500956 rs187206716 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19500960 19500961 rs568923053 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19500963 19500964 rs375089169 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19500972 19500973 rs554646135 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19500995 19500996 rs572959344 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19501009 19501010 rs540510497 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19501010 19501011 rs146186275 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19501011 19501012 rs577503365 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19501019 19501020 rs205694 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.472709 0.11358 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 3089.000000,1919.000000, 0.616813,0.383187, maf-5-some-pop 733 chr21 19501041 19501042 rs796333194 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 733 chr21 19501047 19501048 rs79484345 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.105924 0.204309 intron exact 1 8 1000GENOMES,BUSHMAN,EVA-GONL,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 281.000000,4727.000000, 0.056110,0.943890, maf-5-some-pop 733 chr21 19501111 19501112 rs530526554 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19501140 19501141 rs542606494 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19501142 19501143 rs561007935 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19501145 19501146 rs528188106 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19501178 19501179 rs535882077 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 -,G, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19501205 19501206 rs76097011 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.114036 0.209795 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 304.000000,4704.000000, 0.060703,0.939297, maf-5-some-pop 733 chr21 19501238 19501239 rs571403134 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19501265 19501266 rs780232932 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19501274 19501275 rs532170319 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19501278 19501279 rs550481178 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19501300 19501301 rs193163067 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19501341 19501342 rs137905922 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 733 chr21 19501373 19501374 rs771419289 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501378 19501380 rs869203521 0 + TA TA -/TA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 733 chr21 19501399 19501400 rs572335342 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 733 chr21 19501405 19501406 rs148247961 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.110519 0.207473 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,T, 294.000000,4714.000000, 0.058706,0.941294, maf-5-some-pop 733 chr21 19501444 19501445 rs205695 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.499575 0.01457 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2431.000000,2577.000000, 0.485423,0.514577, maf-5-some-pop,maf-5-all-pops 733 chr21 19501456 19501457 rs530346278 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19501464 19501465 rs142351975 0 + A A A/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,T, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19501486 19501487 rs543313857 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19501491 19501492 rs75411389 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.110167 0.207236 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 293.000000,4715.000000, 0.058506,0.941494, maf-5-some-pop 733 chr21 19501495 19501496 rs558749727 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19501497 19501498 rs184607625 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19501553 19501554 rs189930865 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19501586 19501587 rs58787776 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.393434 0.20476 intron exact 1 12 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP, 2 -,T, 3660.000000,1348.000000, 0.730831,0.269169, maf-5-some-pop,maf-5-all-pops 733 chr21 19501596 19501598 rs58317594 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 733 chr21 19501597 19501598 rs202160301 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19501597 19501598 rs796666239 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 HGSV, 0 733 chr21 19501649 19501650 rs767715596 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501682 19501683 rs775837196 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501716 19501717 rs761028408 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501732 19501733 rs17002360 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.029116 0.117091 intron exact 1 5 1000GENOMES,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4934.000000,74.000000, 0.985224,0.014776, maf-5-some-pop 733 chr21 19501764 19501765 rs556908143 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19501791 19501795 rs777251975 0 + AGAG AGAG -/AGAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501803 19501804 rs374809687 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19501816 19501817 rs369163307 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,C, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19501817 19501818 rs867390681 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19501840 19501841 rs866310587 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19501841 19501842 rs764913011 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501849 19501850 rs552750130 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19501855 19501856 rs205696 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.391954 0.205789 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3668.000000,1340.000000, 0.732428,0.267572, maf-5-some-pop 733 chr21 19501857 19501858 rs758151574 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501910 19501911 rs73894755 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 733 chr21 19501936 19501937 rs148633288 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19501937 19501938 rs532335474 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19501937 19501951 rs541837081 0 + CATTGGTTTACCTT CATTGGTTTACCTT -/CATTGGTTTACCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron range 1 MixedObserved 2 1000GENOMES,PADH-LAB_SPU, 2 -,CATTGGTTTACCTT, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19501991 19501992 rs766265649 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19501994 19501995 rs866243498 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19502019 19502020 rs528329266 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19502052 19502053 rs377324664 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19502069 19502070 rs192761474 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19502094 19502095 rs751504136 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502111 19502112 rs529934243 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19502113 19502114 rs369631179 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19502120 19502121 rs865961936 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19502169 19502170 rs12483665 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.075947 0.179459 intron exact 1 11 1000GENOMES,BGI,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4810.000000,198.000000, 0.960463,0.039537, maf-5-some-pop 733 chr21 19502176 19502177 rs11088667 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.239614 0.249784 intron exact 1 17 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4311.000000,697.000000, 0.860823,0.139177, maf-5-some-pop,maf-5-all-pops 733 chr21 19502180 19502181 rs141528398 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19502205 19502207 rs199736539 0 + TC TC -/TC genomic deletion by-cluster,by-frequency,by-1000genomes 0.099159 0.199366 intron range 1 1 1000GENOMES, 2 -,TC, 262.000000,4746.000000, 0.052316,0.947684, maf-5-some-pop 733 chr21 19502207 19502217 rs751404029 0 + TCTGTGTGTG TCTGTGTGTG -/TCTGTGTGTG genomic deletion by-cluster 0 0 intron range 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502208 19502216 rs754627805 0 + CTGTGTGT CTGTGTGT -/CTGTGTGT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502208 19502209 rs865908248 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 ILLUMINA,WEILL_CORNELL_DGM, 0 733 chr21 19502209 19502219 rs150557806 0 + TGTGTGTGTG TGTGTGTGTG -/TGTGTGTGTG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 6 1000GENOMES,BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 733 chr21 19502209 19502217 rs202034128 0 + TGTGTGTG TGTGTGTG -/TGTGTGTG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 733 chr21 19502210 19502211 rs77746555 0 + G G C/G genomic single by-cluster 0.5 0 intron exact 1 3 COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19502211 19502219 rs778476762 0 + TGTGTGTG TGTGTGTG -/TGTGTGTG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502212 19502213 rs796718162 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 733 chr21 19502215 19502247 rs137883228 0 + TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC lengthTooLong genomic in-del by-cluster,by-1000genomes 0 0 intron range 1 ObservedTooLong 2 1000GENOMES,LUNTER, 0 733 chr21 19502220 19502221 rs370999082 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 BILGI_BIOE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 0 733 chr21 19502222 19502223 rs780308952 0 + G G C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_GENOME_DK,WEILL_CORNELL_DGM, 0 733 chr21 19502236 19502237 rs867053282 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19502237 19502247 rs536448430 0 + TGTGTGTGTC TGTGTGTGTC -/TGTGTGTGTC genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 733 chr21 19502238 19502239 rs867647822 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19502246 19502247 rs200360376 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 GMI,WEILL_CORNELL_DGM, 0 733 chr21 19502246 19502246 rs200239241 0 + - - -/GTGT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 GMI, 0 733 chr21 19502260 19502261 rs570819051 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19502276 19502277 rs370159588 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19502280 19502281 rs755838924 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502295 19502296 rs556795678 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19502325 19502326 rs17780162 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.093057 0.194599 intron exact 1 14 1000GENOMES,BGI,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 245.000000,4763.000000, 0.048922,0.951078, maf-5-some-pop 733 chr21 19502326 19502327 rs749623116 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502342 19502343 rs771202120 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502359 19502360 rs774939000 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502394 19502395 rs377441878 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19502399 19502400 rs536955936 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502401 19502402 rs73200967 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.110872 0.20771 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 295.000000,4713.000000, 0.058906,0.941094, maf-5-some-pop 733 chr21 19502404 19502405 rs747507100 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19502409 19502410 rs138567093 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,T, 133.000000,4875.000000, 0.026557,0.973442, maf-5-some-pop 733 chr21 19502471 19502472 rs572816580 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19502475 19502476 rs539796163 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19502498 19502499 rs76201496 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.048674 0.148216 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4883.000000,125.000000, 0.975040,0.024960, maf-5-some-pop 733 chr21 19502533 19502534 rs576854945 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19502546 19502547 rs73200968 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.11963 0.213316 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 320.000000,4688.000000, 0.063898,0.936102, maf-5-some-pop 733 chr21 19502585 19502586 rs73200971 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.110872 0.20771 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4713.000000,295.000000, 0.941094,0.058906, maf-5-some-pop 733 chr21 19502640 19502641 rs529806139 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19502657 19502658 rs17697450 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.124144 0.21601 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 333.000000,4675.000000, 0.066494,0.933506, maf-5-some-pop 733 chr21 19502668 19502669 rs868422391 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19502714 19502715 rs554865587 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19502718 19502719 rs560142787 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19502737 19502738 rs17697456 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.110872 0.20771 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 295.000000,4713.000000, 0.058906,0.941094, maf-5-some-pop 733 chr21 19502765 19502766 rs368588923 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,T, 25.000000,4983.000000, 0.004992,0.995008, 733 chr21 19502771 19502772 rs372202939 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19502778 19502782 rs768911310 0 + TAAA TAAA -/TAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19502840 19502842 rs370169270 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 733 chr21 19502970 19502970 rs563695923 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 733 chr21 19502981 19502982 rs570973136 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503005 19503006 rs538324000 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503037 19503038 rs150870019 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 45.000000,4963.000000, 0.008986,0.991014, 733 chr21 19503039 19503040 rs577336989 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19503079 19503080 rs763278742 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19503080 19503081 rs77923858 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.111928 0.208413 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 298.000000,4710.000000, 0.059505,0.940495, maf-5-some-pop 733 chr21 19503094 19503095 rs559850231 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19503102 19503103 rs375921127 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,SSMP, 2 -,T, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19503108 19503109 rs139411020 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19503141 19503142 rs369066345 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 733 chr21 19503218 19503219 rs145616940 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19503219 19503220 rs147742581 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 intron exact 1 6 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 60.000000,4948.000000, 0.011981,0.988019, 733 chr21 19503260 19503261 rs528825871 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19503304 19503305 rs866700901 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19503366 19503367 rs79022358 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,ENSEMBL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19503389 19503390 rs574178084 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19503405 19503406 rs576898597 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19503407 19503408 rs184409284 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19503437 19503441 rs566152756 0 + AGAG AGAG -/AGAG genomic deletion by-frequency,by-1000genomes 0.01388 0.082142 intron range 1 1 1000GENOMES, 2 -,AGAG, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19503442 19503443 rs142913164 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,G, 36.000000,4972.000000, 0.007188,0.992812, 733 chr21 19503446 19503448 rs374612689 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 733 chr21 19503466 19503467 rs555811842 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19503467 19503468 rs205697 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.167484 0.23599 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 462.000000,4546.000000, 0.092252,0.907748, maf-5-some-pop 733 chr21 19503469 19503471 rs372980813 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_GENOME_DK,LUNTER, 0 733 chr21 19503469 19503473 rs774118151 0 + AGAG AGAG -/AGAG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19503469 19503469 rs570221535 0 + - - -/AGAGAGAG genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 PADH-LAB_SPU,SSIP, 0 733 chr21 19503471 19503473 rs747399441 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19503482 19503483 rs73200974 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.111224 0.207945 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 296.000000,4712.000000, 0.059105,0.940895, maf-5-some-pop 733 chr21 19503545 19503546 rs560440647 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503546 19503547 rs11909311 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.024843 0.108648 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 63.000000,4945.000000, 0.012580,0.987420, 733 chr21 19503584 19503585 rs188445325 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19503623 19503624 rs144595926 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503631 19503632 rs531701099 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503676 19503677 rs550317650 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19503677 19503678 rs11909334 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.037988 0.132479 intron exact 1 8 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 97.000000,4911.000000, 0.019369,0.980631, maf-5-some-pop 733 chr21 19503720 19503721 rs181917869 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19503738 19503739 rs145770032 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 7 1000GENOMES,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 52.000000,4956.000000, 0.010383,0.989617, 733 chr21 19503749 19503750 rs373179882 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19503762 19503763 rs148947829 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19503763 19503764 rs539723122 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503798 19503799 rs558557236 0 + T T C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503805 19503806 rs772759078 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19503859 19503860 rs548727991 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19503867 19503868 rs75696230 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 intron exact 1 8 1000GENOMES,BGI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,G, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 733 chr21 19503879 19503880 rs537401973 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19503896 19503897 rs550631002 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19503917 19503918 rs555850631 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19503920 19503921 rs574187129 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19503937 19503938 rs542056191 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19503954 19503955 rs570413993 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19503987 19503988 rs572342802 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19504008 19504009 rs143134224 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19504019 19504020 rs151185293 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19504037 19504038 rs564375417 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19504053 19504054 rs531737884 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19504061 19504062 rs375767437 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19504091 19504100 rs767160648 0 + TTAAAATTA TTAAAATTA -/TTAAAATTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19504103 19504104 rs2824642 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499776 0.010581 intron exact 1 20 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2557.000000,2451.000000, 0.510583,0.489417, maf-5-some-pop 733 chr21 19504107 19504108 rs748890439 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19504119 19504120 rs562201847 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19504130 19504131 rs546213957 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19504141 19504144 rs763635869 0 + TCT TCT -/TCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19504169 19504170 rs140288944 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 5 1000GENOMES,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 733 chr21 19504190 19504191 rs145610289 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19504195 19504196 rs566126912 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19504204 19504205 rs374655132 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19504264 19504265 rs377276273 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19504270 19504271 rs533542657 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19504335 19504336 rs77189167 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 733 chr21 19504437 19504438 rs551789747 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19504450 19504451 rs551056916 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19504463 19504464 rs569976325 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19504477 19504478 rs537488878 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19504566 19504567 rs555738253 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19504575 19504576 rs567844316 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19504589 19504590 rs535188454 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19504606 19504607 rs553798716 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19504640 19504641 rs867382698 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19504661 19504662 rs568891402 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 C,G, 4975.000000,33.000000, 0.993411,0.006589, 733 chr21 19504666 19504667 rs774180013 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19504677 19504678 rs377382895 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19504730 19504731 rs558090894 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19504747 19504748 rs370229483 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19504753 19504754 rs138111147 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19504827 19504828 rs186451959 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19504844 19504845 rs767400595 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19504854 19504855 rs2824643 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.375598 0.21616 intron exact 1 20 1000GENOMES,ABI,AFFY,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3753.000000,1255.000000, 0.749401,0.250599, maf-5-some-pop 733 chr21 19504876 19504877 rs574112953 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19504889 19504890 rs188919717 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19504917 19504918 rs182051260 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19504939 19504940 rs753520138 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19504958 19504959 rs186251448 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19504981 19504982 rs375439716 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19505017 19505018 rs191348852 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19505019 19505020 rs80061256 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.102014 0.201495 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 270.000000,4738.000000, 0.053914,0.946086, maf-5-some-pop 733 chr21 19505026 19505027 rs866686786 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19505035 19505036 rs183161852 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19505045 19505046 rs2824644 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.424503 0.179021 intron exact 1 21 1000GENOMES,AFFY,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1531.000000,3477.000000, 0.305711,0.694289, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19505063 19505064 rs567737122 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19505119 19505120 rs535403949 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19505140 19505141 rs537727138 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19505184 19505185 rs75421398 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19505186 19505187 rs531343610 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19505198 19505201 rs112864608 0 + TAG TAG -/TAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.116838 0.211584 intron range 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,TAG, 312.000000,4696.000000, 0.062300,0.937700, maf-5-some-pop 733 chr21 19505203 19505206 rs375971259 0 + GTA GTA -/GTA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19505204 19505205 rs539293661 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19505217 19505221 rs535046338 0 + TATC TATC -/TATC genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,TATC, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19505247 19505248 rs557979558 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19505268 19505280 rs779505877 0 + ACAACCTATGAC ACAACCTATGAC -/ACAACCTATGAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505283 19505284 rs73200975 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.117537 0.212022 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4694.000000,314.000000, 0.937300,0.062700, maf-5-some-pop 733 chr21 19505309 19505310 rs537326164 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19505310 19505311 rs117076944 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 32.000000,4976.000000, 0.006390,0.993610, maf-5-some-pop 733 chr21 19505400 19505400 rs139879297 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.108755 0.206276 intron between 1 8 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSIP,SSMP, 2 -,A, 4719.000000,289.000000, 0.942292,0.057708, maf-5-some-pop 733 chr21 19505402 19505403 rs542005961 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19505409 19505410 rs205698 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.188 0.24219 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,KWOK,SC_JCM,SSAHASNP,WEILL_CORNELL_DGM, 2 G,T, 4482.000000,526.000000, 0.894968,0.105032, maf-5-some-pop 733 chr21 19505416 19505417 rs17002364 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.06036 0.1629 intron exact 1 10 1000GENOMES,AFFY,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 156.000000,4852.000000, 0.031150,0.968850, maf-5-some-pop,genotype-conflict 733 chr21 19505424 19505425 rs530654094 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19505436 19505437 rs559633241 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19505443 19505444 rs73312463 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19505447 19505447 rs141006832 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.116838 0.211584 intron between 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PADH-LAB_SPU,SSIP,SSMP,TISHKOFF, 2 -,T, 4696.000000,312.000000, 0.937700,0.062300, maf-5-some-pop 733 chr21 19505495 19505496 rs769954253 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505526 19505527 rs773454513 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505550 19505551 rs752606922 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19505561 19505562 rs545226431 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19505564 19505565 rs111309915 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,HAMMER_LAB,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19505570 19505571 rs73200976 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.089808 0.191933 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4772.000000,236.000000, 0.952875,0.047125, maf-5-some-pop 733 chr21 19505573 19505574 rs796109902 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 733 chr21 19505583 19505586 rs375062479 0 + TTC TTC -/TTC genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 733 chr21 19505599 19505600 rs185057993 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19505611 19505612 rs775482216 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505626 19505627 rs549291618 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19505640 19505641 rs561196567 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19505648 19505649 rs760593906 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505686 19505687 rs142391868 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19505735 19505736 rs778668697 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19505787 19505788 rs547357275 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19505788 19505789 rs763625193 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505810 19505811 rs565682261 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19505838 19505839 rs372718898 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,TISHKOFF, 2 -,G, 16.000000,4992.000000, 0.003195,0.996805, 733 chr21 19505844 19505845 rs536824904 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19505895 19505896 rs753341786 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505896 19505897 rs9983345 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.018986 0.095563 intron exact 1 4 1000GENOMES,ILLUMINA,PERLEGEN,WUGSC_SSAHASNP, 2 C,T, 4960.000000,48.000000, 0.990415,0.009585, maf-5-some-pop 733 chr21 19505898 19505899 rs761434695 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505912 19505913 rs367557053 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19505916 19505917 rs371462971 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19505931 19505931 rs34176212 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19505949 19505950 rs764945274 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19505972 19505973 rs376010096 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19505974 19505975 rs368003294 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19505979 19505980 rs368238624 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 6 1000GENOMES,JMKIDD_LAB,PADH-LAB_SPU,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4981.000000,27.000000, 0.994609,0.005391, 733 chr21 19506054 19506055 rs555709754 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19506066 19506067 rs372035088 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19506092 19506093 rs573574918 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19506095 19506096 rs377073201 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19506122 19506123 rs141314873 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 733 chr21 19506122 19506123 rs189718594 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19506141 19506142 rs553310865 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19506142 19506143 rs545725854 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19506199 19506200 rs138479151 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19506219 19506220 rs750107405 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506227 19506228 rs758779776 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506246 19506247 rs578063733 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19506250 19506251 rs565087593 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19506269 19506270 rs780343004 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506307 19506308 rs575617890 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19506310 19506311 rs149258515 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19506315 19506316 rs79577446 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 3 1000GENOMES,BUSHMAN,EVA_DECODE, 2 A,T, 32.000000,4976.000000, 0.006390,0.993610, 733 chr21 19506325 19506326 rs205699 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.056231 0.157967 intron exact 1 14 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KWOK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4863.000000,145.000000, 0.971046,0.028954, maf-5-some-pop 733 chr21 19506347 19506348 rs144790265 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19506351 19506352 rs183090835 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19506372 19506373 rs148570284 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19506408 19506409 rs559284693 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19506418 19506419 rs755479694 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506436 19506437 rs781733189 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506437 19506438 rs200504073 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19506438 19506439 rs551522274 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19506494 19506495 rs368577609 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19506513 19506514 rs75140125 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045634 0.143994 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4891.000000,117.000000, 0.976637,0.023363, maf-5-some-pop 733 chr21 19506567 19506568 rs868020697 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 YSAMUELS, 0 733 chr21 19506569 19506570 rs868329081 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 YSAMUELS, 0 733 chr21 19506578 19506579 rs2824645 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.405429 0.195811 intron exact 1 27 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3593.000000,1415.000000, 0.717452,0.282548, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19506583 19506584 rs549197171 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19506605 19506606 rs200614950 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.001526 0.027577 intron exact 1 SingleClassTriAllelic 9 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 3 A,C,T, 1.000000,107107.000000,78.000000, 0.000009,0.999263,0.000728, 733 chr21 19506621 19506622 rs749567086 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506622 19506623 rs746552836 0 + A A A/G genomic single unknown 0.000019 0.003113 intron exact 1 1 EVA_EXAC, 2 A,G, 103171.000000,1.000000, 0.999990,0.000010, 733 chr21 19506637 19506638 rs768255659 0 + T T C/T genomic single unknown 0.000019 0.003104 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,103791.000000, 0.000010,0.999990, 733 chr21 19506645 19506646 rs369307764 0 + C C C/T genomic single by-cluster 0.000348 0.013185 intron exact 1 2 EVA_MGP,NHLBI-ESP, 2 C,T, 5733.000000,1.000000, 0.999826,0.000174, 733 chr21 19506646 19506647 rs749078860 0 + A A -/A genomic deletion unknown 0.000019 0.003099 intron exact 1 1 EVA_EXAC, 2 -,A, 1.000000,104089.000000, 0.000010,0.999990, 733 chr21 19506649 19506650 rs371795349 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000134 0.00819 intron exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,G, 8.000000,109336.000000, 0.000073,0.999927, 733 chr21 19506650 19506651 rs2824646 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.489121 0.072947 intron exact 1 34 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 64346.000000,48832.000000, 0.568538,0.431462, maf-5-some-pop,maf-5-all-pops 733 chr21 19506654 19506655 rs369859134 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000037 0.00431 intron exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 C,G, 112661.000000,3.000000, 0.999973,0.000027, 733 chr21 19506666 19506667 rs773071497 0 + G G G/T genomic single by-frequency 0.000037 0.004312 intron exact 1 1 EVA_EXAC, 2 G,T, 107556.000000,2.000000, 0.999981,0.000019, 733 chr21 19506670 19506671 rs762606140 0 + A A A/G genomic single unknown 0.000019 0.003049 intron exact 1 1 EVA_EXAC, 2 A,G, 107539.000000,1.000000, 0.999991,0.000009, 733 chr21 19506682 19506683 rs538603814 0 + G G G/T genomic single by-1000genomes 0.000037 0.004315 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 112397.000000,3.000000, 0.999973,0.000027, 733 chr21 19506691 19506692 rs775659730 0 + T T C/T genomic single unknown 0.000019 0.003054 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,107225.000000, 0.000009,0.999991, 733 chr21 19506693 19506694 rs9977750 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.487347 0.078526 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 64129.000000,47519.000000, 0.574386,0.425614, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19506701 19506702 rs746939427 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506714 19506715 rs2824647 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.497121 0.03783 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2694.000000,2314.000000, 0.537939,0.462061, maf-5-some-pop,maf-5-all-pops 733 chr21 19506722 19506723 rs748293671 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_MGP, 0 733 chr21 19506772 19506773 rs542858261 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19506782 19506783 rs776745449 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506805 19506806 rs557553856 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19506815 19506816 rs115136788 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 6 1000GENOMES,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 733 chr21 19506847 19506848 rs573491631 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19506859 19506860 rs551148652 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19506862 19506863 rs764856932 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506863 19506864 rs772986818 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506899 19506900 rs205700 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.440884 0.161442 intron exact 1 23 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KWOK,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3365.000000,1643.000000, 0.671925,0.328075, maf-5-some-pop,maf-5-all-pops 733 chr21 19506901 19506902 rs766735094 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19506907 19506908 rs774506521 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19506966 19506967 rs532960241 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19506971 19506972 rs759801360 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19506976 19506977 rs751919105 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507013 19507014 rs377051044 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19507023 19507024 rs369667661 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 733 chr21 19507025 19507026 rs111567067 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19507084 19507085 rs755400907 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507103 19507104 rs563420532 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19507108 19507109 rs530601739 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19507120 19507121 rs571082800 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19507191 19507192 rs567470742 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19507212 19507213 rs767844207 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507302 19507303 rs753214109 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507308 19507309 rs528248153 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19507310 19507311 rs546879192 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19507322 19507323 rs370498412 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19507327 19507328 rs143989074 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19507345 19507346 rs772107253 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19507346 19507347 rs540176663 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19507364 19507365 rs538684543 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19507365 19507366 rs147333419 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19507390 19507391 rs569035398 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19507398 19507399 rs536330109 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19507407 19507408 rs531351030 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19507412 19507413 rs7279375 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.230017 0.2492 intron exact 1 16 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4344.000000,664.000000, 0.867412,0.132588, maf-5-some-pop 733 chr21 19507413 19507414 rs77412557 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 733 chr21 19507424 19507425 rs534086221 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19507433 19507434 rs113984417 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19507462 19507463 rs866203273 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19507498 19507499 rs577609341 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19507499 19507500 rs2824648 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.480223 0.097454 intron exact 1 26 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2006.000000,3002.000000, 0.400559,0.599441, maf-5-some-pop,maf-5-all-pops 733 chr21 19507516 19507517 rs1735287 0 - A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.483636 0.088963 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2957.000000,2051.000000, 0.590455,0.409545, maf-5-some-pop,maf-5-all-pops 733 chr21 19507565 19507566 rs757465970 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507567 19507568 rs141006817 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19507661 19507662 rs76453342 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,EVA_GENOME_DK,GMI, 2 -,T, 14.000000,4994.000000, 0.002796,0.997204, 733 chr21 19507671 19507671 rs369498836 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 733 chr21 19507719 19507720 rs542730243 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19507724 19507725 rs866382521 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19507748 19507749 rs761623290 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19507769 19507770 rs779222675 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507774 19507775 rs12626756 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.242775 0.249896 intron exact 1 20 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 708.000000,4300.000000, 0.141374,0.858626, maf-5-some-pop 733 chr21 19507791 19507793 rs551899024 0 + TT TT -/TT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TT, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19507797 19507798 rs750072361 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19507805 19507806 rs544026047 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19507882 19507883 rs144640869 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19507894 19507895 rs756259638 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507971 19507972 rs768505074 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19507989 19507990 rs758193997 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19508018 19508019 rs1735286 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.475877 0.107142 intron exact 1 35 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1954.000000,3054.000000, 0.390176,0.609824, maf-5-some-pop,maf-5-all-pops 733 chr21 19508020 19508021 rs191466827 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19508047 19508048 rs532249558 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19508078 19508079 rs183577642 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19508100 19508101 rs200202905 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19508110 19508111 rs748155287 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19508150 19508151 rs62215414 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.12932 0.218944 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4660.000000,348.000000, 0.930511,0.069489, maf-5-some-pop 733 chr21 19508152 19508153 rs536223423 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19508181 19508182 rs1735285 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.482159 0.092748 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2031.000000,2977.000000, 0.405551,0.594449, maf-5-some-pop,maf-5-all-pops 733 chr21 19508195 19508196 rs566811037 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19508196 19508197 rs367834985 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19508205 19508206 rs372022961 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19508206 19508207 rs558862854 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19508209 19508210 rs376863167 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19508210 19508211 rs577647912 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19508234 19508235 rs188514315 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19508236 19508237 rs1735284 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.280785 0.248097 intron exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SEQUENOM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4162.000000,846.000000, 0.831070,0.168930, maf-5-some-pop,maf-5-all-pops 733 chr21 19508252 19508253 rs139312146 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19508326 19508327 rs575317367 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19508355 19508356 rs192896268 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19508356 19508357 rs528917213 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19508375 19508376 rs1688189 0 - C C G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.216649 0.247765 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 619.000000,4389.000000, 0.123602,0.876398, maf-5-some-pop 733 chr21 19508379 19508380 rs568832682 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19508407 19508408 rs540119785 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19508421 19508422 rs76280964 0 + C C A/C genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 A, 2.000000, 1.000000, 733 chr21 19508422 19508422 rs754200291 0 + - - -/A/AA/AAA genomic insertion by-cluster 0 0 intron between 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 rs-cluster-nonoverlapping-alleles 733 chr21 19508423 19508423 rs67552520 0 + - - -/A/AA genomic insertion by-cluster,by-frequency 0.625 0.125 intron between 1 2 GMI,HUMANGENOME_JCVI, 3 -,A,AA, 1.000000,1.000000,2.000000, 0.250000,0.250000,0.500000, 733 chr21 19508426 19508427 rs9798628 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WI_SSAHASNP, 0 733 chr21 19508435 19508436 rs11909003 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.247621 0.249989 intron exact 1 MixedObserved 16 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 4283.000000,725.000000, 0.855232,0.144768, maf-5-some-pop,maf-5-all-pops 733 chr21 19508435 19508436 rs200736366 0 + G G -/G genomic deletion by-1000genomes 0 0 intron exact 1 MixedObserved 1 1000GENOMES, 0 733 chr21 19508436 19508436 rs755756494 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 DDI, 0 733 chr21 19508437 19508438 rs374376344 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 BILGI_BIOE,ILLUMINA, 0 733 chr21 19508438 19508438 rs201543423 0 + - - -/AG/G genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,HAMMER_LAB, 0 733 chr21 19508441 19508442 rs13047128 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 DDI,GMI,SSAHASNP,WEILL_CORNELL_DGM, 0 733 chr21 19508446 19508447 rs867130584 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19508460 19508461 rs186620895 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19508503 19508504 rs774056407 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19508542 19508543 rs372112911 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19508574 19508575 rs114499259 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4969.000000,39.000000, 0.992212,0.007788, 733 chr21 19508612 19508613 rs191473183 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19508649 19508650 rs117268545 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19508654 19508655 rs550485254 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19508666 19508667 rs1735283 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.16976 0.236773 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4539.000000,469.000000, 0.906350,0.093650, maf-5-some-pop 733 chr21 19508737 19508738 rs530116099 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19508789 19508790 rs1735282 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.17332 0.23795 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,WEILL_CORNELL_DGM, 2 A,C, 4528.000000,480.000000, 0.904153,0.095847, maf-5-some-pop 733 chr21 19508814 19508815 rs772225831 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19508897 19508898 rs73894757 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 ILLUMINA-UK, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19508921 19508922 rs566982586 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19508933 19508934 rs75165153 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.14933 0.228835 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 407.000000,4601.000000, 0.081270,0.918730, maf-5-some-pop 733 chr21 19508939 19508940 rs552668384 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19508942 19508943 rs571076683 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19508943 19508944 rs77999380 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.149665 0.228982 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 408.000000,4600.000000, 0.081470,0.918530, maf-5-some-pop 733 chr21 19508959 19508960 rs1688188 0 - G G A/C genomic single by-cluster,by-frequency,by-1000genomes 0.105569 0.204058 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,WEILL_CORNELL_DGM, 2 A,C, 280.000000,4728.000000, 0.055911,0.944089, maf-5-some-pop 733 chr21 19508967 19508968 rs73894758 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 733 chr21 19508968 19508969 rs1688187 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.169435 0.236663 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,WEILL_CORNELL_DGM, 2 C,T, 468.000000,4540.000000, 0.093451,0.906550, maf-5-some-pop 733 chr21 19508969 19508970 rs554248868 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19508985 19508986 rs572930957 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19509013 19509014 rs539970516 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19509024 19509025 rs7275396 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.070042 0.173537 intron exact 1 MixedObserved 8 1000GENOMES,AFFY,BCM_SSAHASNP,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 182.000000,4826.000000, 0.036342,0.963658, maf-5-some-pop 733 chr21 19509024 19509028 rs549722991 0 + GTAA GTAA -/GTAA genomic deletion by-frequency,by-1000genomes 0.006766 0.057769 intron range 1 MixedObserved 1 1000GENOMES, 2 -,GTAA, 17.000000,4991.000000, 0.003395,0.996605, 733 chr21 19509029 19509030 rs73894759 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ILLUMINA-UK, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19509030 19509031 rs535364260 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 -,C, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19509036 19509054 rs147280660 0 + ATATATATATATATATAT ATATATATATATATATAT -/ATATATATATATATATAT genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 733 chr21 19509036 19509046 rs199553811 0 + ATATATATAT ATATATATAT -/ATATATATAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 7 BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 0 733 chr21 19509036 19509048 rs200255345 0 + ATATATATATAT ATATATATATAT -/ATATATATATAT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 733 chr21 19509036 19509044 rs201134627 0 + ATATATAT ATATATAT -/ATATATAT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 733 chr21 19509036 19509038 rs373935582 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 SSIP,SSMP, 0 733 chr21 19509038 19509046 rs771248532 0 + ATATATAT ATATATAT -/ATATATAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509050 19509051 rs2638085 0 - A A C/T genomic single by-cluster 0 0 intron exact 1 2 SC_JCM,WEILL_CORNELL_DGM, 0 733 chr21 19509055 19509056 rs553668341 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 SSIP,WEILL_CORNELL_DGM, 0 733 chr21 19509060 19509061 rs866755939 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19509070 19509071 rs868676554 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19509079 19509080 rs184782130 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19509082 19509083 rs776612749 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19509084 19509088 rs796570462 0 + ACAC ACAC -/ACAC genomic deletion unknown 0 0 intron range 1 1 PADH-LAB_SPU, 0 733 chr21 19509124 19509125 rs71319672 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 intron exact 1 7 1000GENOMES,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,WEILL_CORNELL_DGM, 2 C,G, 4893.000000,115.000000, 0.977037,0.022963, maf-5-some-pop 733 chr21 19509163 19509164 rs1735281 0 - C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.170733 0.237101 intron exact 1 15 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,WEILL_CORNELL_DGM, 2 C,G, 472.000000,4536.000000, 0.094249,0.905751, maf-5-some-pop,genotype-conflict 733 chr21 19509209 19509214 rs148740208 0 + TTAAT TTAAT -/TTAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.037988 0.132479 intron range 1 3 1000GENOMES,EVA-GONL,LUNTER, 2 -,TTAAT, 97.000000,4911.000000, 0.019369,0.980631, maf-5-some-pop 733 chr21 19509213 19509218 rs370668341 0 + TTTAA TTTAA -/TTTAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19509241 19509242 rs748069338 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509242 19509243 rs527334622 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19509244 19509245 rs769902147 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509273 19509274 rs529925193 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19509362 19509363 rs190734275 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19509368 19509369 rs567192067 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 733 chr21 19509411 19509412 rs765122700 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19509457 19509458 rs372928010 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19509461 19509462 rs374910629 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19509463 19509464 rs142310653 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,LUNTER, 2 -,C, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19509518 19509519 rs369186004 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19509554 19509555 rs770489238 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509559 19509560 rs112199800 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19509571 19509572 rs577445296 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19509572 19509573 rs372699030 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19509602 19509602 rs35312611 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19509615 19509616 rs376039158 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19509621 19509622 rs535801050 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19509632 19509633 rs759299388 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509637 19509638 rs772392710 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509680 19509681 rs552705341 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19509706 19509707 rs1688186 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.169435 0.236663 intron exact 1 19 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 468.000000,4540.000000, 0.093451,0.906550, maf-5-some-pop 733 chr21 19509782 19509783 rs140357543 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19509783 19509784 rs761046161 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509808 19509809 rs764541800 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509824 19509825 rs865914721 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19509834 19509835 rs114150672 0 + T T G/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 G,T, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19509837 19509838 rs559981942 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19509841 19509842 rs754378492 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509865 19509866 rs568766839 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19509874 19509875 rs2824650 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.499154 0.02055 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 2607.000000,2401.000000, 0.520567,0.479433, maf-5-some-pop,maf-5-all-pops 733 chr21 19509879 19509880 rs554413583 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19509893 19509894 rs117005479 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19509917 19509918 rs533500151 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19509949 19509950 rs1688185 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.170084 0.236883 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 470.000000,4538.000000, 0.093850,0.906150, maf-5-some-pop 733 chr21 19509963 19509982 rs151306258 0 + AAATTGTCATTTACCTCTG AAATTGTCATTTACCTCTG -/AAATTGTCATTTACCTCTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.170084 0.236883 intron range 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,AAATTGTCATTTACCTCTG, 470.000000,4538.000000, 0.093850,0.906150, maf-5-some-pop 733 chr21 19509965 19509984 rs60143317 0 + ATTGTCATTTACCTCTGAA ATTGTCATTTACCTCTGAA -/ATTGTCATTTACCTCTGAA genomic deletion by-cluster 0 0 intron range 1 2 HGSV,TISHKOFF, 0 733 chr21 19509971 19509972 rs576521099 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19509985 19509986 rs758688565 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19509991 19509992 rs201775352 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19510022 19510023 rs544049219 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19510030 19510031 rs55712976 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,WEILL_CORNELL_DGM, 2 A,T, 4968.000000,40.000000, 0.992013,0.007987, 733 chr21 19510040 19510041 rs117780818 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 9 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19510042 19510043 rs755977323 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19510059 19510060 rs541779168 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19510061 19510062 rs182241657 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19510062 19510063 rs555486468 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19510074 19510075 rs373075854 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19510107 19510108 rs867768613 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19510170 19510171 rs546207038 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19510200 19510202 rs563346599 0 + AC AC -/AC genomic deletion by-frequency,by-1000genomes 0.005972 0.054319 intron range 1 1 1000GENOMES, 2 -,AC, 15.000000,4993.000000, 0.002995,0.997005, 733 chr21 19510213 19510214 rs377380173 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19510240 19510241 rs1688184 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.170084 0.236883 intron exact 1 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 470.000000,4538.000000, 0.093850,0.906150, maf-5-some-pop 733 chr21 19510263 19510264 rs531820779 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19510315 19510316 rs145437408 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19510370 19510371 rs1735280 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.170084 0.236883 intron exact 1 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 470.000000,4538.000000, 0.093850,0.906150, maf-5-some-pop 733 chr21 19510372 19510373 rs575684769 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19510405 19510406 rs547778918 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19510415 19510416 rs185235588 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19510434 19510434 rs139334703 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.170084 0.236883 intron between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,T, 4538.000000,470.000000, 0.906150,0.093850, maf-5-some-pop 733 chr21 19510440 19510440 rs397725532 0 + - - -/T genomic insertion unknown 0 0 intron between 1 2 ABI,HGSV, 0 733 chr21 19510452 19510453 rs770341694 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19510471 19510472 rs57677614 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 4 EVA_GENOME_DK,GMI,HAMMER_LAB,SSMP, 0 733 chr21 19510482 19510483 rs796628543 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 733 chr21 19510502 19510503 rs533584001 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19510537 19510538 rs1491777 0 - G G C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.170084 0.236883 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4538.000000,470.000000, 0.906150,0.093850, maf-5-some-pop 733 chr21 19510550 19510551 rs1491776 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.170084 0.236883 intron exact 1 16 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4538.000000,470.000000, 0.906150,0.093850, maf-5-some-pop 733 chr21 19510551 19510552 rs60554460 0 - C C A/G genomic single unknown 0 0 intron exact 1 1 KRIBB_YJKIM, 0 733 chr21 19510564 19510565 rs55813127 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074106 0.177655 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4815.000000,193.000000, 0.961462,0.038538, maf-5-some-pop 733 chr21 19510580 19510581 rs556195660 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19510593 19510594 rs79742656 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,T, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 733 chr21 19510606 19510607 rs146520817 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19510632 19510633 rs190166580 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19510735 19510736 rs572365006 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19510749 19510750 rs546245506 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19510752 19510753 rs564461227 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19510786 19510788 rs796358089 0 + TG TG -/TG genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 733 chr21 19510787 19510788 rs1688182 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.44755 0.153212 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3315.000000,1693.000000, 0.661941,0.338059, maf-5-some-pop,maf-5-all-pops 733 chr21 19510788 19510790 rs373678117 0 + TG TG -/TG genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19510805 19510808 rs144518065 0 + ATC ATC -/ATC genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron range 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,ATC, 24.000000,4984.000000, 0.004792,0.995208, 733 chr21 19510808 19510809 rs543958699 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19510859 19510860 rs776994972 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19510889 19510890 rs1688181 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.170084 0.236883 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4538.000000,470.000000, 0.906150,0.093850, maf-5-some-pop 733 chr21 19510910 19510911 rs75127747 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,G, 56.000000,4952.000000, 0.011182,0.988818, maf-5-some-pop 733 chr21 19510948 19510949 rs549102115 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19510953 19510954 rs17002387 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.074106 0.177655 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 193.000000,4815.000000, 0.038538,0.961462, maf-5-some-pop 733 chr21 19510992 19510993 rs544426930 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19511023 19511024 rs181093358 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19511034 19511035 rs766670171 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511041 19511042 rs751843473 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511062 19511063 rs866271224 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19511063 19511064 rs533424678 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19511071 19511072 rs569283990 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19511088 19511089 rs755957322 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511096 19511097 rs551623138 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511131 19511132 rs768754853 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19511170 19511171 rs570134093 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19511172 19511173 rs764016524 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511195 19511196 rs185500750 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19511208 19511209 rs549618792 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511241 19511242 rs76351967 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19511244 19511245 rs757264223 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511251 19511252 rs748087756 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19511254 19511255 rs535334352 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511265 19511266 rs1491775 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.170084 0.236883 intron exact 1 14 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4538.000000,470.000000, 0.906150,0.093850, maf-5-some-pop 733 chr21 19511309 19511310 rs1491774 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.170084 0.236883 intron exact 1 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 470.000000,4538.000000, 0.093850,0.906150, maf-5-some-pop 733 chr21 19511311 19511312 rs866711527 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19511315 19511316 rs757905030 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511329 19511330 rs557913816 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19511372 19511373 rs112541159 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19511375 19511376 rs561640481 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19511383 19511384 rs558058024 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19511386 19511387 rs527299850 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19511393 19511394 rs779627544 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511451 19511452 rs141082947 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19511479 19511480 rs746725600 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511501 19511502 rs533711360 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19511511 19511512 rs553554485 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511528 19511529 rs748581763 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511543 19511544 rs73200983 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19511578 19511579 rs189575840 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19511595 19511596 rs773625315 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511599 19511600 rs763066885 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511624 19511625 rs541292136 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19511643 19511644 rs559537107 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511662 19511663 rs180923789 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511773 19511774 rs113983140 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511781 19511782 rs112495561 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.104859 0.203554 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,TISHKOFF, 2 -,C, 278.000000,4730.000000, 0.055511,0.944489, maf-5-some-pop 733 chr21 19511785 19511786 rs185183579 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19511813 19511814 rs774710338 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511818 19511819 rs192225367 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511829 19511830 rs183921471 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19511860 19511861 rs562322790 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19511885 19511886 rs568089170 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19511904 19511905 rs188471484 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19511959 19511960 rs576021202 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19511987 19511988 rs191769049 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19512056 19512057 rs1688180 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.497829 0.032876 intron exact 1 27 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2669.000000,2339.000000, 0.532947,0.467053, maf-5-some-pop,maf-5-all-pops 733 chr21 19512088 19512089 rs117118460 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,G, 56.000000,4952.000000, 0.011182,0.988818, maf-5-some-pop 733 chr21 19512102 19512103 rs148182319 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19512247 19512248 rs182634856 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19512251 19512252 rs1628808 0 - T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.170084 0.236883 intron exact 1 14 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4538.000000,470.000000, 0.906150,0.093850, maf-5-some-pop 733 chr21 19512314 19512315 rs555710589 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19512422 19512423 rs574084675 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19512454 19512455 rs541535363 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19512458 19512459 rs374271416 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19512477 19512478 rs59919957 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 192.000000,4816.000000, 0.038339,0.961661, maf-5-some-pop 733 chr21 19512478 19512479 rs545187183 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19512480 19512481 rs117176234 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 733 chr21 19512504 19512505 rs531212845 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19512510 19512511 rs746637299 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19512524 19512525 rs372880567 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19512533 19512534 rs543082261 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19512606 19512607 rs754709237 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19512611 19512612 rs1688179 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.170733 0.237101 intron exact 1 17 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 472.000000,4536.000000, 0.094249,0.905751, maf-5-some-pop 733 chr21 19512634 19512635 rs747254803 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19512674 19512675 rs748507208 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19512720 19512721 rs367727224 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 733 chr21 19512771 19512772 rs755216059 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19512811 19512812 rs528857962 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19512826 19512827 rs547474970 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19512902 19512903 rs533918561 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19512928 19512929 rs117569638 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 53.000000,4955.000000, 0.010583,0.989417, 733 chr21 19512986 19512987 rs1688178 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.170733 0.237101 intron exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4536.000000,472.000000, 0.905751,0.094249, maf-5-some-pop 733 chr21 19512989 19512990 rs551601220 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19513053 19513054 rs1688177 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.170733 0.237101 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 472.000000,4536.000000, 0.094249,0.905751, maf-5-some-pop 733 chr21 19513073 19513074 rs1688176 0 - C C A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.172464 0.237996 intron exact 1 SingleClassTriAllelic 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 3 A,C,G, 3.000000,474.000000,4531.000000, 0.000599,0.094649,0.904752, maf-5-some-pop,maf-5-all-pops 733 chr21 19513084 19513085 rs537814802 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19513095 19513096 rs1623848 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.170733 0.237101 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 472.000000,4536.000000, 0.094249,0.905751, maf-5-some-pop 733 chr21 19513096 19513097 rs770726630 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19513143 19513144 rs372183061 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19513179 19513180 rs376740212 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19513181 19513182 rs187292412 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19513183 19513184 rs137971110 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 160.000000,4848.000000, 0.031949,0.968051, maf-5-some-pop 733 chr21 19513190 19513191 rs553090600 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19513194 19513195 rs577710934 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19513201 19513202 rs144028974 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 12.000000,4996.000000, 0.002396,0.997604, 733 chr21 19513212 19513213 rs1963037 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.170733 0.237101 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4536.000000,472.000000, 0.905751,0.094249, maf-5-some-pop 733 chr21 19513217 19513217 rs534037007 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 0 733 chr21 19513219 19513219 rs60391388 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0.5 0 intron between 1 5 1000GENOMES,BUSHMAN,HGSV,LUNTER,TISHKOFF, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19513227 19513228 rs556284129 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19513315 19513315 rs145216162 0 + - - -/ATC genomic insertion by-cluster,by-frequency,by-1000genomes 0.170733 0.237101 intron between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,HAMMER_LAB,LUNTER, 2 -,ATC, 4536.000000,472.000000, 0.905751,0.094249, maf-5-some-pop 733 chr21 19513318 19513318 rs200517565 0 + - - -/ATG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 733 chr21 19513319 19513320 rs183675323 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19513319 19513319 rs57557660 0 + - - -/TCA genomic insertion unknown 0 0 intron between 1 MixedObserved,SingleAlleleFreq 2 BUSHMAN,HGSV, 1 TCA, 2.000000, 1.000000, 733 chr21 19513524 19513525 rs543330313 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19513544 19513545 rs576179526 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19513672 19513673 rs187636326 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19513682 19513683 rs573592829 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19513687 19513689 rs112633724 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.097369 0.197999 intron range 1 8 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,AT, 257.000000,4751.000000, 0.051318,0.948682, maf-5-some-pop 733 chr21 19513697 19513698 rs536139252 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19513701 19513702 rs1735278 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.170733 0.237101 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 472.000000,4536.000000, 0.094249,0.905751, maf-5-some-pop 733 chr21 19513707 19513708 rs56228740 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 733 chr21 19513718 19513719 rs147291723 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19513723 19513724 rs2051356 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.235273 0.249566 intron exact 1 22 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 682.000000,4326.000000, 0.136182,0.863818, maf-5-some-pop 733 chr21 19513741 19513742 rs139352834 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19513751 19513752 rs564881149 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19513771 19513772 rs762922346 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19513774 19513775 rs572159381 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19513788 19513789 rs58702427 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 733 chr21 19513831 19513832 rs530571909 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19513855 19513856 rs765853643 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19513914 19513915 rs1617077 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.170733 0.237101 intron exact 1 15 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 472.000000,4536.000000, 0.094249,0.905751, maf-5-some-pop 733 chr21 19513988 19513989 rs577451225 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19514038 19514039 rs62215415 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 733 chr21 19514040 19514041 rs11308901 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.447809 0.152878 intron exact 1 7 1000GENOMES,BILGI_BIOE,BUSHMAN,EVA_GENOME_DK,GMI,PJP,SSMP, 2 -,A, 1695.000000,3313.000000, 0.338458,0.661542, maf-5-some-pop,maf-5-all-pops 733 chr21 19514041 19514042 rs541409828 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19514052 19514055 rs869114048 0 + AAA AAA -/AAA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 733 chr21 19514055 19514056 rs80125930 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.093417 0.194889 intron exact 1 MixedObserved 5 1000GENOMES,ENSEMBL,EVA_GENOME_DK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4762.000000,246.000000, 0.950879,0.049121, maf-5-some-pop 733 chr21 19514055 19514056 rs398036184 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 733 chr21 19514056 19514057 rs78688614 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 733 chr21 19514085 19514086 rs546565962 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19514125 19514126 rs1688175 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.188316 0.242271 intron exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4481.000000,527.000000, 0.894768,0.105232, maf-5-some-pop 733 chr21 19514135 19514136 rs143275841 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19514144 19514145 rs557009532 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19514155 19514156 rs564109155 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19514156 19514157 rs763521827 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19514158 19514159 rs17002394 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4816.000000,192.000000, 0.961661,0.038339, maf-5-some-pop 733 chr21 19514205 19514206 rs75999551 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19514207 19514208 rs1735277 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.188316 0.242271 intron exact 1 16 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4481.000000,527.000000, 0.894768,0.105232, maf-5-some-pop 733 chr21 19514231 19514232 rs756494325 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19514243 19514244 rs573455604 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19514244 19514245 rs112267844 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19514284 19514285 rs78826164 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 25.000000,4983.000000, 0.004992,0.995008, 733 chr21 19514334 19514335 rs17002395 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 733 chr21 19514344 19514345 rs548411121 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19514349 19514350 rs771511997 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 733 chr21 19514350 19514351 rs116236405 0 + G G A/G genomic single by-1000genomes 0.016806 0.090113 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,117.000000, 0.008475,0.991525, 733 chr21 19514416 19514417 rs142776373 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,EVA-GONL,TISHKOFF, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19514439 19514440 rs193209762 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19514473 19514473 rs755370648 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 733 chr21 19514534 19514535 rs185749209 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19514537 19514537 rs10629940 0 + - - -/GAGAGA genomic insertion by-cluster,by-frequency,by-1000genomes 0.187369 0.242028 intron between 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,GAGAGA, 4484.000000,524.000000, 0.895367,0.104633, maf-5-some-pop 733 chr21 19514545 19514545 rs199583038 0 + - - -/GAGAGA genomic insertion by-cluster 0 0 intron between 1 2 GMI,TISHKOFF, 0 733 chr21 19514565 19514566 rs779589464 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19514566 19514567 rs76749848 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.124837 0.216412 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 335.000000,4673.000000, 0.066893,0.933107, maf-5-some-pop 733 chr21 19514572 19514573 rs551321957 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19514575 19514576 rs116775469 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.097369 0.197999 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 257.000000,4751.000000, 0.051318,0.948682, maf-5-some-pop 733 chr21 19514600 19514601 rs17002397 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.188316 0.242271 intron exact 1 17 1000GENOMES,BUSHMAN,CHURCH_CG54K,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 527.000000,4481.000000, 0.105232,0.894768, maf-5-some-pop 733 chr21 19514636 19514637 rs760875077 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19514636 19514637 rs778038784 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 733 chr21 19514686 19514687 rs546451747 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19514707 19514708 rs749231010 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19514787 19514788 rs770832082 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19514800 19514801 rs2824651 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.188316 0.242271 intron exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4481.000000,527.000000, 0.894768,0.105232, maf-5-some-pop 733 chr21 19514831 19514832 rs773043514 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19514864 19514865 rs115985261 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 733 chr21 19514869 19514870 rs150650868 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19514894 19514895 rs140059996 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19514915 19514916 rs751504351 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19514935 19514936 rs55813984 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 MixedObserved 4 1000GENOMES,HGSV,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 733 chr21 19514935 19514937 rs386816738 0 + CA CA CA/TG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 733 chr21 19514936 19514937 rs10482894 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.183568 0.241012 intron exact 1 18 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4496.000000,512.000000, 0.897764,0.102236, maf-5-some-pop 733 chr21 19514979 19514980 rs760361465 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19514995 19514996 rs373291211 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19514997 19514998 rs768153146 0 + A A A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 733 chr21 19515001 19515002 rs767001384 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19515043 19515044 rs567190317 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19515064 19515065 rs190210189 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19515071 19515072 rs559266196 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515100 19515101 rs201498507 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19515158 19515159 rs577722069 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19515208 19515209 rs545011216 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515214 19515215 rs752361315 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19515227 19515228 rs1467745 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,ABI,JMKIDD_LAB,TSC-CSHL, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19515252 19515253 rs575226249 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19515261 19515262 rs556086469 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19515294 19515295 rs183903127 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19515311 19515312 rs188438594 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA-GONL, 0 733 chr21 19515372 19515373 rs181249796 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19515385 19515386 rs560939969 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515411 19515412 rs144107367 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 733 chr21 19515413 19515414 rs540137595 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19515415 19515416 rs116450049 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 733 chr21 19515416 19515417 rs377532027 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19515450 19515451 rs532413299 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19515488 19515489 rs185922263 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19515495 19515496 rs777590268 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19515497 19515498 rs79943493 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 733 chr21 19515545 19515546 rs530123466 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515606 19515607 rs548629469 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19515615 19515615 rs35390701 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19515765 19515766 rs567092821 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19515783 19515784 rs2205307 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495056 0.049474 intron exact 1 29 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2255.000000,2753.000000, 0.450280,0.549720, maf-5-some-pop,maf-5-all-pops 733 chr21 19515784 19515785 rs377471826 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19515804 19515804 rs11463145 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 733 chr21 19515809 19515810 rs17002398 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.109221 0.206594 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 10 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 130.000000,8.000000, 0.942029,0.057971, maf-5-some-pop,maf-5-all-pops 733 chr21 19515809 19515810 rs368405208 0 + G G AT/G genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 TISHKOFF, 0 733 chr21 19515809 19515809 rs200707740 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 GMI, 0 733 chr21 19515816 19515817 rs190792494 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19515829 19515830 rs571156126 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515861 19515862 rs540055560 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 6 1000GENOMES,DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19515868 19515869 rs2205306 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499732 0.011578 intron exact 1 32 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2446.000000,2562.000000, 0.488419,0.511581, maf-5-some-pop,maf-5-all-pops 733 chr21 19515871 19515872 rs747236508 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19515879 19515880 rs575140802 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515896 19515897 rs542376441 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19515897 19515898 rs756469361 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19515898 19515899 rs374801093 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515905 19515906 rs572713322 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515916 19515917 rs540031311 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515979 19515980 rs768817942 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19515994 19515995 rs564886328 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19515998 19515999 rs776869784 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19516043 19516044 rs749016935 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19516099 19516100 rs146471172 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516106 19516107 rs368232909 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19516202 19516203 rs544629682 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19516237 19516238 rs562755787 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516242 19516243 rs114698012 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 733 chr21 19516253 19516254 rs548396707 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19516285 19516286 rs868818113 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19516312 19516313 rs770727485 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19516403 19516404 rs9981306 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.105924 0.204309 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 281.000000,4727.000000, 0.056110,0.943890, maf-5-some-pop 733 chr21 19516407 19516408 rs372479355 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19516408 19516409 rs753910708 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19516432 19516433 rs554616034 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19516472 19516473 rs527933719 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19516478 19516479 rs182382998 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516497 19516498 rs571195773 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516516 19516517 rs372522065 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19516520 19516521 rs550418890 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516538 19516539 rs4818405 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499218 0.019753 intron exact 1 27 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2603.000000,2405.000000, 0.519768,0.480232, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19516559 19516560 rs536202375 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516593 19516594 rs767031415 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19516609 19516610 rs112405104 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19516627 19516628 rs73312485 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 116.000000,4892.000000, 0.023163,0.976837, maf-5-some-pop 733 chr21 19516663 19516664 rs533769410 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516694 19516695 rs558315900 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516717 19516718 rs559989806 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19516788 19516789 rs544202259 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19516790 19516791 rs73893005 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 EVA_DECODE,ILLUMINA-UK, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19516791 19516792 rs74484633 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19516793 19516794 rs369228214 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 733 chr21 19516798 19516799 rs542202980 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516803 19516804 rs745868534 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19516807 19516810 rs543160791 0 + GTG GTG -/GTG genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19516875 19516876 rs760259688 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19516878 19516879 rs560596560 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516888 19516889 rs191766424 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19516889 19516890 rs28436267 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.188631 0.242351 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 528.000000,4480.000000, 0.105431,0.894569, maf-5-some-pop 733 chr21 19516918 19516919 rs564689112 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19516933 19516934 rs746653840 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19516939 19516940 rs373374470 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,SSIP,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19516979 19516980 rs149755618 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA-GONL, 0 733 chr21 19517029 19517030 rs545322563 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19517068 19517069 rs757680707 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19517085 19517086 rs145619933 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19517108 19517109 rs568730453 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517125 19517126 rs372303369 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,DDI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 733 chr21 19517178 19517179 rs547764783 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517202 19517203 rs566267984 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517218 19517219 rs73312487 0 + T T C/T genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19517279 19517280 rs544644157 0 + T T A/G genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 733 chr21 19517337 19517338 rs183122243 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19517342 19517343 rs564920325 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19517350 19517351 rs111786104 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19517351 19517352 rs186169831 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19517435 19517436 rs576969454 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19517456 19517457 rs538005323 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517473 19517474 rs556229773 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19517474 19517475 rs113775858 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 733 chr21 19517475 19517476 rs547494591 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19517501 19517502 rs374732605 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19517519 19517520 rs867649285 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19517548 19517549 rs541891655 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19517549 19517550 rs367822181 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19517568 19517569 rs8128416 0 + A A A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19517576 19517577 rs35590480 0 + C C A/C/T genomic single by-cluster 0 0 intron exact 1 MixedObserved,SingleClassTriAllelic,SingleAlleleFreq 3 ABI,BCM-HGSC-SUB,HGSV, 1 C, 2.000000, 1.000000, 733 chr21 19517576 19517577 rs66583826 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 MixedObserved 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,C, 4937.000000,71.000000, 0.985823,0.014177, 733 chr21 19517576 19517578 rs796397573 0 + CC CC CC/T genomic in-del unknown 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 733 chr21 19517576 19517577 rs869218900 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 DEVINE_LAB, 0 733 chr21 19517577 19517578 rs113641162 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.261608 0.24973 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,BCM-HGSC-SUB,EVA_GENOME_DK, 2 C,T, 4233.000000,775.000000, 0.845248,0.154752, maf-5-some-pop,maf-5-all-pops 733 chr21 19517609 19517610 rs9636664 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.261056 0.249755 intron exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,HAMMER_LAB,HGSV,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4235.000000,773.000000, 0.845647,0.154353, maf-5-some-pop,maf-5-all-pops 733 chr21 19517610 19517611 rs371270315 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19517615 19517616 rs6517797 0 + C C C/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19517635 19517636 rs8127988 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.125182 0.216612 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,HAMMER_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4672.000000,336.000000, 0.932907,0.067093, maf-5-some-pop 733 chr21 19517653 19517654 rs542572017 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 G,T, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19517665 19517666 rs529578400 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517677 19517678 rs547651392 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517678 19517679 rs373673646 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 56.000000,4952.000000, 0.011182,0.988818, maf-5-some-pop 733 chr21 19517691 19517692 rs527248585 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19517694 19517695 rs551866105 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4965.000000,43.000000, 0.991414,0.008586, 733 chr21 19517707 19517708 rs570523172 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 733 chr21 19517717 19517718 rs569911360 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19517749 19517750 rs8132334 0 + T T C/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19517771 19517774 rs34643630 0 + AAA AAA -/AAA genomic deletion unknown 0 0 intron range 1 SingleAlleleFreq 1 HGSV, 1 A, 2.000000, 1.000000, 733 chr21 19517773 19517774 rs869245294 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19517774 19517774 rs10671177 0 + - - -/A/AA genomic insertion unknown 0 0 intron between 1 2 ABI,HGSV, 0 733 chr21 19517777 19517778 rs556306987 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19517778 19517779 rs568128042 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517795 19517796 rs113966407 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 733 chr21 19517822 19517823 rs2824652 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499741 0.011379 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2447.000000,2561.000000, 0.488618,0.511382, maf-5-some-pop,maf-5-all-pops 733 chr21 19517849 19517849 rs199549284 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.043728 0.141251 intron between 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,T, 4896.000000,112.000000, 0.977636,0.022364, maf-5-some-pop 733 chr21 19517850 19517851 rs750913636 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19517871 19517872 rs148831153 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19517903 19517904 rs572478473 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19517925 19517926 rs546208646 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19517933 19517934 rs558018076 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19517965 19517966 rs7277730 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.151001 0.229563 intron exact 1 19 1000GENOMES,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4596.000000,412.000000, 0.917732,0.082268, maf-5-some-pop,genotype-conflict 733 chr21 19517993 19517995 rs148246879 0 + TC TC -/TC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 733 chr21 19518066 19518067 rs115786108 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.069672 0.173152 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4827.000000,181.000000, 0.963858,0.036142, maf-5-some-pop 733 chr21 19518138 19518139 rs562388341 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 C,G, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19518161 19518162 rs370510827 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19518162 19518163 rs747020279 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19518172 19518173 rs529439224 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518173 19518174 rs760126674 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19518174 19518175 rs767988084 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19518192 19518193 rs370317206 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19518199 19518200 rs2824653 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.433818 0.169443 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3415.000000,1593.000000, 0.681909,0.318091, maf-5-some-pop,maf-5-all-pops 733 chr21 19518207 19518208 rs531411320 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518226 19518227 rs866826255 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19518244 19518245 rs781334968 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19518246 19518247 rs2824654 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499994 0.001797 intron exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2513.000000,2495.000000, 0.501797,0.498203, maf-5-some-pop,maf-5-all-pops 733 chr21 19518268 19518269 rs187863257 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19518274 19518275 rs9978444 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 733 chr21 19518275 19518275 rs112224814 0 + - - -/T/TTTTTTT genomic insertion by-cluster,by-1000genomes 0.5 0 intron between 1 InconsistentAlleles 4 1000GENOMES,BUSHMAN,LUNTER,SSIP, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19518278 19518279 rs570486149 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19518279 19518279 rs757189150 0 + - - -/TTG genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 733 chr21 19518281 19518282 rs7280217 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.428937 0.17459 intron exact 1 15 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3448.000000,1560.000000, 0.688498,0.311502, maf-5-some-pop,maf-5-all-pops 733 chr21 19518284 19518285 rs549582149 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.103794 0.20279 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,WEILL_CORNELL_DGM, 2 G,T, 4733.000000,275.000000, 0.945088,0.054912, maf-5-some-pop 733 chr21 19518307 19518308 rs568246402 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518339 19518340 rs535602405 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518354 19518355 rs745696863 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19518409 19518410 rs543194322 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518410 19518411 rs192494348 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19518411 19518412 rs539872746 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 733 chr21 19518432 19518433 rs558118822 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518450 19518451 rs74604068 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 733 chr21 19518452 19518452 rs574946951 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 733 chr21 19518467 19518468 rs375651737 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19518476 19518477 rs576327489 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19518487 19518488 rs9305844 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.41408 0.188621 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 1466.000000,3542.000000, 0.292732,0.707268, maf-5-some-pop,maf-5-all-pops 733 chr21 19518529 19518530 rs555531608 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19518537 19518538 rs573906753 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19518609 19518610 rs375082935 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19518633 19518634 rs138028677 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19518640 19518641 rs73312496 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.245916 0.249967 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 719.000000,4289.000000, 0.143570,0.856430, maf-5-some-pop,maf-5-all-pops 733 chr21 19518695 19518696 rs13049355 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.205417 0.245993 intron exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 582.000000,4426.000000, 0.116214,0.883786, maf-5-some-pop,maf-5-all-pops 733 chr21 19518696 19518697 rs142015629 0 + G G A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19518702 19518703 rs531158938 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19518712 19518713 rs146782281 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19518739 19518740 rs561616701 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19518741 19518742 rs565209181 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19518773 19518774 rs139287919 0 + T T G/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 G,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19518786 19518787 rs776416836 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19518792 19518793 rs9305845 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.497151 0.037632 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 2315.000000,2693.000000, 0.462260,0.537740, maf-5-some-pop,maf-5-all-pops 733 chr21 19518811 19518812 rs75325637 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19518842 19518843 rs566016277 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518879 19518880 rs114872414 0 + C C C/T genomic single by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 1 1000GENOMES, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, maf-5-some-pop 733 chr21 19518894 19518895 rs541374067 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19518897 19518902 rs368645736 0 + TTGTA TTGTA -/TTGTA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19518912 19518913 rs754801940 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19518917 19518918 rs143208448 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19518919 19518920 rs750707772 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19518927 19518928 rs367550764 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19518973 19518974 rs184001889 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519024 19519025 rs79044918 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 733 chr21 19519037 19519038 rs758825591 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519054 19519055 rs766730463 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519095 19519096 rs188892348 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19519104 19519105 rs573793911 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19519120 19519121 rs534920470 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19519128 19519129 rs553166004 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519162 19519163 rs755039753 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519184 19519185 rs781288264 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519193 19519194 rs577786722 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19519205 19519206 rs545687431 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19519208 19519209 rs748346279 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519227 19519228 rs192594977 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19519231 19519232 rs576025445 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519246 19519247 rs113260370 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19519254 19519255 rs561792788 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519268 19519269 rs745579518 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519333 19519334 rs528983162 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,WEILL_CORNELL_DGM, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19519372 19519373 rs772843369 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19519408 19519409 rs771910233 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519433 19519434 rs779840099 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519455 19519456 rs550176654 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19519456 19519459 rs542300477 0 + GTT GTT -/GTT genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 733 chr21 19519517 19519518 rs9982566 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.130008 0.219321 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4658.000000,350.000000, 0.930112,0.069888, maf-5-some-pop 733 chr21 19519540 19519541 rs559612383 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19519552 19519553 rs533116527 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19519569 19519570 rs2406168 0 + G G C/G genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 733 chr21 19519577 19519578 rs138320759 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 733 chr21 19519600 19519601 rs111526205 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19519601 19519602 rs73312500 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.229136 0.249128 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 661.000000,4347.000000, 0.131989,0.868011, maf-5-some-pop 733 chr21 19519625 19519626 rs534885440 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19519633 19519634 rs557785304 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19519638 19519639 rs761434577 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519639 19519640 rs76827534 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 9 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4912.000000,96.000000, 0.980831,0.019169, maf-5-some-pop 733 chr21 19519648 19519649 rs114489532 0 + A A A/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 A,T, 4982.000000,26.000000, 0.994808,0.005192, 733 chr21 19519672 19519673 rs73314503 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.21875 0.248039 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4382.000000,626.000000, 0.875000,0.125000, maf-5-some-pop,maf-5-all-pops 733 chr21 19519673 19519674 rs553002683 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519701 19519702 rs577822078 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19519702 19519703 rs538846649 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519707 19519708 rs867108019 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19519754 19519755 rs9982185 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.130008 0.219321 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 350.000000,4658.000000, 0.069888,0.930112, maf-5-some-pop 733 chr21 19519775 19519776 rs575824511 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519778 19519779 rs78440024 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19519809 19519810 rs2824655 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.402982 0.197728 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1401.000000,3607.000000, 0.279752,0.720248, maf-5-some-pop,maf-5-all-pops 733 chr21 19519822 19519823 rs149567518 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519832 19519833 rs541133347 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519864 19519865 rs9982939 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.130008 0.219321 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4658.000000,350.000000, 0.930112,0.069888, maf-5-some-pop 733 chr21 19519883 19519884 rs533195515 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19519973 19519974 rs778950994 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19519979 19519980 rs13050729 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19519998 19519999 rs13050275 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19520003 19520004 rs13050742 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 733 chr21 19520004 19520005 rs78224678 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4964.000000,44.000000, 0.991214,0.008786, 733 chr21 19520034 19520035 rs768032638 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19520042 19520043 rs563628960 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520046 19520047 rs188974990 0 + T T C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19520057 19520058 rs527902643 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19520092 19520093 rs548835600 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520097 19520098 rs537133961 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19520116 19520117 rs567324954 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19520137 19520138 rs528428633 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520143 19520144 rs546727416 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19520164 19520165 rs765221864 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19520180 19520181 rs556604384 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19520181 19520182 rs756190648 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19520196 19520197 rs118080105 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19520199 19520200 rs539246694 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520225 19520226 rs9974207 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.130008 0.219321 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4658.000000,350.000000, 0.930112,0.069888, maf-5-some-pop 733 chr21 19520264 19520265 rs118000165 0 + G G G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 733 chr21 19520275 19520276 rs536568265 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19520278 19520279 rs9977012 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.130008 0.219321 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 350.000000,4658.000000, 0.069888,0.930112, maf-5-some-pop 733 chr21 19520286 19520287 rs550119749 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 733 chr21 19520289 19520290 rs2824656 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.415891 0.18703 intron exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1477.000000,3531.000000, 0.294928,0.705072, maf-5-some-pop,maf-5-all-pops 733 chr21 19520344 19520345 rs541018603 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19520360 19520361 rs140077676 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19520363 19520364 rs577644489 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19520377 19520378 rs766267553 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19520380 19520381 rs545052476 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520420 19520421 rs746924443 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19520424 19520425 rs563358973 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520425 19520426 rs76918894 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 733 chr21 19520458 19520459 rs768668367 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19520539 19520540 rs572688298 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19520580 19520581 rs542522466 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19520621 19520622 rs781313430 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19520640 19520641 rs73314519 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.230603 0.249246 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4342.000000,666.000000, 0.867013,0.132987, maf-5-some-pop 733 chr21 19520647 19520648 rs561310644 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19520661 19520662 rs574777322 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19520665 19520666 rs546565941 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19520707 19520708 rs199850468 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19520747 19520747 rs11410350 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.154661 0.231107 intron between 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 4585.000000,423.000000, 0.915535,0.084465, maf-5-some-pop 733 chr21 19520758 19520759 rs2824657 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.1652 0.235179 intron exact 1 20 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 455.000000,4553.000000, 0.090855,0.909145, maf-5-some-pop 733 chr21 19520794 19520797 rs755852321 0 + GGG GGG -/GGG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 733 chr21 19520799 19520800 rs532657704 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19520869 19520870 rs2824658 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499203 0.019952 intron exact 1 28 1000GENOMES,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 2604.000000,2404.000000, 0.519968,0.480032, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19520878 19520879 rs370753025 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520911 19520912 rs569356353 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19520928 19520929 rs536817154 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19520959 19520960 rs555342954 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19520970 19520971 rs771175729 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19520975 19520976 rs2824659 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.1652 0.235179 intron exact 1 24 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4553.000000,455.000000, 0.909145,0.090855, maf-5-some-pop,genotype-conflict 733 chr21 19520983 19520985 rs751739585 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 4 EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521088 19521089 rs191488842 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19521090 19521091 rs11312736 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.154661 0.231107 intron exact 1 DuplicateObserved 13 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 423.000000,4585.000000, 0.084465,0.915535, maf-5-some-pop 733 chr21 19521090 19521091 rs869275392 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 733 chr21 19521101 19521102 rs143649877 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 733 chr21 19521142 19521143 rs6517798 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.154329 0.23097 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4586.000000,422.000000, 0.915735,0.084265, maf-5-some-pop 733 chr21 19521200 19521201 rs551317547 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,C, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19521201 19521202 rs11285949 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 DuplicateObserved 7 BILGI_BIOE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,PJP,SSMP, 0 733 chr21 19521201 19521202 rs869279591 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 733 chr21 19521214 19521216 rs77360982 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 733 chr21 19521215 19521216 rs397866331 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 2 ABI,HGSV, 0 733 chr21 19521237 19521238 rs34292231 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 733 chr21 19521255 19521256 rs184958171 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19521290 19521291 rs753211990 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521300 19521301 rs536614788 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19521329 19521330 rs8130425 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 4879.000000,129.000000, 0.974241,0.025759, maf-5-some-pop 733 chr21 19521343 19521344 rs71319673 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 9 1000GENOMES,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 733 chr21 19521350 19521351 rs570171538 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19521371 19521372 rs760170365 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521415 19521416 rs753973776 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521461 19521462 rs757550891 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521489 19521491 rs571148677 0 + TG TG -/TG genomic deletion by-frequency,by-1000genomes 0.00319 0.039809 intron range 1 1 1000GENOMES, 2 -,TG, 8.000000,5000.000000, 0.001597,0.998403, 733 chr21 19521530 19521531 rs146329773 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19521532 19521533 rs189414917 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19521540 19521541 rs560874100 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19521557 19521558 rs572783505 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19521558 19521559 rs139943187 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19521584 19521585 rs751362848 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521587 19521588 rs371196015 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19521599 19521600 rs558721702 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19521611 19521612 rs73314523 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.103794 0.20279 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4733.000000,275.000000, 0.945088,0.054912, maf-5-some-pop 733 chr21 19521630 19521631 rs532491759 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19521641 19521642 rs550807993 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19521647 19521648 rs375034456 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19521653 19521654 rs181006308 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19521678 19521679 rs9653744 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.036835 0.130617 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 733 chr21 19521709 19521710 rs187274470 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19521730 19521731 rs115003489 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19521737 19521738 rs748155137 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521747 19521748 rs142154289 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19521766 19521767 rs530577443 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19521767 19521768 rs571164453 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19521771 19521772 rs538618974 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19521772 19521773 rs72228016 0 + G G -/G genomic deletion unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19521788 19521789 rs755576458 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521793 19521794 rs556822841 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19521796 19521797 rs79528375 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 intron exact 1 8 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4872.000000,136.000000, 0.972843,0.027157, maf-5-some-pop 733 chr21 19521809 19521810 rs536075303 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19521877 19521878 rs151230896 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19521935 19521936 rs73893006 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 733 chr21 19521949 19521950 rs2824660 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499997 0.001198 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2510.000000,2498.000000, 0.501198,0.498802, maf-5-some-pop,maf-5-all-pops 733 chr21 19522071 19522072 rs189344789 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19522104 19522105 rs772478461 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522136 19522137 rs565147894 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19522137 19522138 rs57752067 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 733 chr21 19522139 19522140 rs769994707 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19522147 19522148 rs140365805 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19522150 19522151 rs114064199 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, maf-5-some-pop 733 chr21 19522151 19522152 rs112626447 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 733 chr21 19522155 19522156 rs761281761 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522167 19522168 rs530203998 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19522175 19522176 rs764056391 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522193 19522194 rs548669034 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19522197 19522198 rs773341449 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19522227 19522228 rs13047106 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 12 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 733 chr21 19522228 19522229 rs761833949 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522276 19522277 rs147551887 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 733 chr21 19522284 19522285 rs371970068 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19522308 19522309 rs552633075 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19522315 19522316 rs766490803 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19522329 19522330 rs779992875 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 733 chr21 19522382 19522383 rs571117777 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19522389 19522390 rs35325236 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 10 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,PJP,WEILL_CORNELL_DGM, 2 G,T, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 733 chr21 19522398 19522399 rs550534097 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19522409 19522410 rs568478703 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19522489 19522490 rs181961073 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA_DECODE, 0 733 chr21 19522497 19522498 rs535962719 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19522513 19522514 rs375284782 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19522517 19522518 rs554198308 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19522518 19522519 rs573305304 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19522520 19522521 rs73314524 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19522522 19522523 rs752652428 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522544 19522545 rs756027721 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522576 19522577 rs141952831 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19522584 19522585 rs190833200 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19522591 19522592 rs777601453 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522605 19522606 rs752477525 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19522655 19522656 rs116438295 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19522660 19522661 rs111758606 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 7 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 733 chr21 19522676 19522677 rs551220716 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19522686 19522687 rs574836698 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19522691 19522692 rs542350372 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19522700 19522701 rs7283168 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.498589 0.02652 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2371.000000,2637.000000, 0.473442,0.526558, maf-5-some-pop,maf-5-all-pops 733 chr21 19522720 19522721 rs527933365 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19522766 19522767 rs546356884 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19522783 19522784 rs564661388 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19522790 19522791 rs745587154 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19522845 19522846 rs7275593 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.39979 0.200158 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1383.000000,3625.000000, 0.276158,0.723842, maf-5-some-pop,maf-5-all-pops,genotype-conflict 733 chr21 19522890 19522891 rs13048405 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.165527 0.235296 intron exact 1 21 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4552.000000,456.000000, 0.908946,0.091054, maf-5-some-pop 733 chr21 19522897 19522898 rs138711533 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19522917 19522918 rs112595999 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 10 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4912.000000,96.000000, 0.980831,0.019169, maf-5-some-pop 733 chr21 19522959 19522960 rs547922485 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19522960 19522961 rs561786977 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19522961 19522962 rs566226854 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19522998 19522999 rs186499925 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19523007 19523008 rs200232287 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19523009 19523010 rs201524100 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19523016 19523017 rs190952255 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19523066 19523067 rs530841777 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19523077 19523078 rs570521907 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19523081 19523082 rs538164427 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19523115 19523116 rs556454909 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19523124 19523125 rs574924582 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19523125 19523126 rs542238084 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19523134 19523135 rs550149603 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19523137 19523138 rs761894960 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523142 19523143 rs554332324 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19523167 19523168 rs572554692 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19523172 19523173 rs545943418 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19523174 19523175 rs564723113 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19523215 19523216 rs748509241 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19523217 19523218 rs182460421 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19523229 19523230 rs13050402 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 12 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 733 chr21 19523266 19523267 rs773567663 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523280 19523281 rs191329562 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 733 chr21 19523282 19523283 rs532838659 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523315 19523316 rs562036900 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19523321 19523322 rs143746571 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4879.000000,129.000000, 0.974241,0.025759, maf-5-some-pop 733 chr21 19523336 19523337 rs571379085 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19523348 19523349 rs773458158 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19523353 19523354 rs749562839 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 733 chr21 19523372 19523373 rs13051412 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 A,C, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19523386 19523387 rs546320837 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19523393 19523395 rs550385593 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TG, 31.000000,4977.000000, 0.006190,0.993810, 733 chr21 19523398 19523407 rs869224654 0 + CAAAAAAAA CAAAAAAAA -/CAAAAAAAA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 733 chr21 19523399 19523406 rs139123234 0 + AAAAAAA AAAAAAA -/AAAAAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.107341 0.205301 intron range 1 MixedObserved 2 1000GENOMES,GMI, 2 -,AAAAAAA, 4723.000000,285.000000, 0.943091,0.056909, maf-5-some-pop 733 chr21 19523399 19523407 rs760950465 0 + AAAAAAAA AAAAAAAA -/AAAAAAAA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523399 19523399 rs771283080 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 SSMP, 0 733 chr21 19523400 19523407 rs746415025 0 + AAAAAAA AAAAAAA -/AAAAAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523401 19523407 rs775499400 0 + AAAAAA AAAAAA -/AAAAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523413 19523414 rs112934261 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 BUSHMAN,GMI,WEILL_CORNELL_DGM, 1 G, 1.000000, 1.000000, 733 chr21 19523414 19523414 rs57704471 0 + - - -/G genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 3 1000GENOMES,EVA_GENOME_DK,HGSV, 0 733 chr21 19523415 19523422 rs61176066 0 + AAAAAAA AAAAAAA -/AAAAAAA genomic deletion by-cluster 0 0 intron range 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 733 chr21 19523415 19523416 rs868282720 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 733 chr21 19523416 19523423 rs754064470 0 + AAAAAAG AAAAAAG -/AAAAAAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523418 19523419 rs796606928 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19523491 19523492 rs80329437 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4912.000000,96.000000, 0.980831,0.019169, maf-5-some-pop 733 chr21 19523506 19523507 rs566580277 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 733 chr21 19523523 19523524 rs868221431 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19523555 19523556 rs764030901 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523558 19523559 rs570630651 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19523565 19523566 rs537632386 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19523575 19523576 rs4816765 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.022504 0.103662 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WI_SSAHASNP, 2 A,G, 57.000000,4951.000000, 0.011382,0.988618, maf-5-some-pop 733 chr21 19523599 19523600 rs557395213 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 733 chr21 19523638 19523639 rs141972537 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19523648 19523649 rs756754489 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523668 19523670 rs138188734 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AA, 42.000000,4966.000000, 0.008387,0.991613, 733 chr21 19523753 19523754 rs778433953 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523756 19523757 rs547217926 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19523760 19523761 rs750053242 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523805 19523805 rs750476153 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523828 19523829 rs572321753 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19523864 19523865 rs757994948 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523873 19523874 rs779714112 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523887 19523888 rs370033749 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19523889 19523890 rs747334263 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523894 19523895 rs374043830 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 733 chr21 19523900 19523901 rs768916967 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523918 19523919 rs372435561 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19523919 19523920 rs544096463 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19523928 19523929 rs774469607 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19523957 19523958 rs555150222 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19523965 19523966 rs781715193 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19523973 19523974 rs748673991 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524010 19524011 rs75283464 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 G,T, 16.000000,4992.000000, 0.003195,0.996805, 733 chr21 19524065 19524066 rs75462400 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 733 chr21 19524137 19524138 rs568621483 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19524194 19524195 rs79925401 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19524196 19524197 rs763154402 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524208 19524209 rs562071999 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19524213 19524214 rs771207601 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524214 19524215 rs187929836 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19524251 19524252 rs111989168 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19524263 19524264 rs559739862 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19524305 19524307 rs71941239 0 + TG TG -/TG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 PJP, 0 733 chr21 19524305 19524309 rs148570136 0 + TGTG TGTG -/TGTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.184521 0.241273 intron range 1 MixedObserved 2 1000GENOMES,LUNTER, 2 -,TGTG, 4493.000000,515.000000, 0.897165,0.102835, maf-5-some-pop 733 chr21 19524305 19524315 rs200117996 0 + TGTGTGTGTG TGTGTGTGTG -/TGTGTGTGTG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 733 chr21 19524305 19524313 rs369165177 0 + TGTGTGTG TGTGTGTG -/TGTGTGTG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 6 BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 0 733 chr21 19524306 19524307 rs865937364 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 733 chr21 19524307 19524311 rs560974556 0 + TGTG TGTG -/TGTG genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSIP, 0 733 chr21 19524307 19524313 rs762096167 0 + TGTGTG TGTGTG -/TGTGTG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524309 19524313 rs769013879 0 + TGTG TGTG -/TGTG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524334 19524335 rs376032293 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 733 chr21 19524334 19524342 rs566275996 0 + GTGTGTGT GTGTGTGT -/GTGTGTGT genomic deletion unknown 0 0 intron range 1 MixedObserved 2 BCMHGSC_JDW,HGSV, 0 733 chr21 19524335 19524338 rs750216026 0 + TGT TGT -/TGT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524335 19524343 rs755923746 0 + TGTGTGTT TGTGTGTT -/TGTGTGTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524338 19524339 rs867310031 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19524340 19524342 rs569745446 0 + GT GT -/GT genomic deletion unknown 0 0 intron range 1 3 HGSV,HUMANGENOME_JCVI,PJP, 0 733 chr21 19524342 19524343 rs527247155 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.413416 0.189196 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 1462.000000,3546.000000, 0.291933,0.708067, maf-5-some-pop,maf-5-all-pops 733 chr21 19524402 19524403 rs144993988 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19524419 19524420 rs752607750 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19524433 19524434 rs760501034 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524448 19524449 rs11909379 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.008747 0.065553 intron exact 1 7 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB,HGSV, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19524471 19524472 rs187355547 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19524485 19524486 rs763862151 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524521 19524522 rs753777525 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524552 19524553 rs761786250 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524554 19524555 rs138833542 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 733 chr21 19524608 19524609 rs568226845 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19524614 19524615 rs535769735 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19524742 19524743 rs549437149 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19524788 19524789 rs116740337 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 733 chr21 19524805 19524806 rs369015424 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19524853 19524854 rs765180438 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524906 19524907 rs749897614 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19524926 19524927 rs192257276 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19524934 19524935 rs557390223 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19524998 19524999 rs75263589 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 155.000000,4853.000000, 0.030950,0.969050, maf-5-some-pop 733 chr21 19524999 19525000 rs867626493 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19525002 19525003 rs755370402 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19525051 19525052 rs141952078 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013506 0.081245 intron exact 1 SingleClassTriAllelic 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 3 C,G,T, 11.000000,4974.000000,23.000000, 0.002196,0.993211,0.004593, 733 chr21 19525060 19525061 rs184819998 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 733 chr21 19525068 19525069 rs146340663 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19525087 19525088 rs770379327 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19525101 19525102 rs573871229 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525112 19525113 rs866758263 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19525126 19525127 rs546304873 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19525129 19525130 rs541331335 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525130 19525131 rs559757490 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525141 19525142 rs868496018 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19525162 19525163 rs749320638 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19525166 19525167 rs2254058 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.378765 0.214288 intron exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1271.000000,3737.000000, 0.253794,0.746206, maf-5-some-pop,maf-5-all-pops,microattr-tpa 733 chr21 19525183 19525184 rs545457607 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19525199 19525200 rs139603392 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 733 chr21 19525217 19525218 rs6517799 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.08836 0.190715 intron exact 1 13 1000GENOMES,AFFY,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4776.000000,232.000000, 0.953674,0.046326, maf-5-some-pop 733 chr21 19525222 19525223 rs549873839 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525369 19525370 rs149301652 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19525418 19525419 rs529058106 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525550 19525551 rs759717130 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19525567 19525568 rs753537153 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19525568 19525569 rs189694711 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19525658 19525659 rs565834860 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19525683 19525684 rs369420578 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,SSMP,WARNICH_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525700 19525701 rs757029397 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19525711 19525712 rs573289552 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19525722 19525723 rs541618101 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19525724 19525725 rs28438586 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.103794 0.20279 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4733.000000,275.000000, 0.945088,0.054912, maf-5-some-pop 733 chr21 19525727 19525728 rs537173772 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19525782 19525783 rs28407675 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.123105 0.215401 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4678.000000,330.000000, 0.934105,0.065895, maf-5-some-pop 733 chr21 19525797 19525798 rs192951945 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19525800 19525801 rs868036462 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19525819 19525820 rs534883940 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19525856 19525856 rs748937493 0 + - - -/C genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19525868 19525869 rs111623742 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19525874 19525875 rs188310830 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19525882 19525883 rs563720004 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19525917 19525918 rs12626907 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.230896 0.249269 intron exact 1 15 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4341.000000,667.000000, 0.866813,0.133187, maf-5-some-pop 733 chr21 19525956 19525957 rs557490490 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525969 19525970 rs576060457 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19525992 19525993 rs546600205 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 0 733 chr21 19526002 19526003 rs781691843 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19526034 19526035 rs181922653 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19526038 19526039 rs754638955 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526064 19526065 rs12627340 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.23235 0.249376 intron exact 1 11 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 645.000000,4162.000000, 0.134179,0.865821, maf-5-some-pop,maf-5-all-pops 733 chr21 19526065 19526065 rs60907444 0 + - - -/TATA genomic insertion by-cluster,by-frequency,by-1000genomes 0.087894 0.19032 intron between 1 4 1000GENOMES,GMI,LUNTER,SSMP, 2 -,TATA, 4162.000000,201.000000, 0.953931,0.046069, maf-5-some-pop 733 chr21 19526077 19526077 rs397944819 0 + - - -/TATA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 733 chr21 19526090 19526091 rs189018632 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19526115 19526116 rs540847949 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19526162 19526163 rs148484334 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 733 chr21 19526169 19526170 rs778174149 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19526179 19526180 rs767225462 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526203 19526204 rs753073633 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526207 19526208 rs548488124 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19526228 19526229 rs533092918 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19526239 19526240 rs2824661 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.215747 0.247642 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4392.000000,616.000000, 0.876997,0.123003, maf-5-some-pop 733 chr21 19526299 19526300 rs796688262 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 733 chr21 19526305 19526306 rs569957366 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 733 chr21 19526306 19526307 rs778407050 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526308 19526309 rs749872306 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526309 19526310 rs530774838 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19526344 19526344 rs770685988 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526354 19526355 rs76391744 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 733 chr21 19526380 19526381 rs745980525 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526389 19526390 rs772142690 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526439 19526440 rs112964868 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.062977 0.165899 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,C, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 733 chr21 19526465 19526466 rs17002404 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.062977 0.165899 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4845.000000,163.000000, 0.967452,0.032548, maf-5-some-pop 733 chr21 19526466 19526467 rs181845369 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526480 19526481 rs769636422 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526483 19526484 rs114854207 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 733 chr21 19526489 19526490 rs2824662 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.21845 0.248001 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 625.000000,4383.000000, 0.124800,0.875200, maf-5-some-pop 733 chr21 19526536 19526537 rs772066726 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19526540 19526541 rs571783137 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19526568 19526569 rs538967328 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19526571 19526572 rs17002405 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.293037 0.246268 intron exact 1 20 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 893.000000,4115.000000, 0.178315,0.821685, maf-5-some-pop,maf-5-all-pops 733 chr21 19526623 19526624 rs765895322 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526631 19526632 rs11911039 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.007559 0.061011 intron exact 1 6 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 733 chr21 19526649 19526650 rs2824663 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498392 0.028309 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2646.000000,2362.000000, 0.528355,0.471645, maf-5-some-pop,maf-5-all-pops 733 chr21 19526703 19526704 rs759119264 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19526713 19526714 rs377130477 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19526767 19526768 rs370090366 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 733 chr21 19526768 19526769 rs573764914 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19526785 19526786 rs191044818 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 733 chr21 19526802 19526803 rs181404509 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19526818 19526819 rs533105836 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19526827 19526828 rs544986937 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19526860 19526861 rs563235365 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19526876 19526877 rs142735590 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19526968 19526969 rs548948416 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19526975 19526976 rs147640757 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19526998 19526999 rs140326540 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19527043 19527044 rs62215416 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 733 chr21 19527048 19527049 rs11088668 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.296364 0.245663 intron exact 1 26 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4102.000000,906.000000, 0.819089,0.180911, maf-5-some-pop,maf-5-all-pops 733 chr21 19527107 19527108 rs571756951 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19527224 19527225 rs752452277 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19527227 19527228 rs539212694 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19527229 19527230 rs74816780 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19527234 19527235 rs567129609 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 733 chr21 19527262 19527263 rs147802556 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19527276 19527277 rs75259377 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19527292 19527293 rs116952370 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 733 chr21 19527293 19527294 rs111991714 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19527301 19527302 rs555246167 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19527336 19527337 rs140167921 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 48.000000,4960.000000, 0.009585,0.990415, 733 chr21 19527355 19527356 rs552995813 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19527365 19527366 rs150456099 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19527376 19527377 rs145302277 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19527387 19527388 rs545187032 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19527416 19527417 rs563275802 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 733 chr21 19527420 19527421 rs575184407 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19527421 19527422 rs542483473 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19527439 19527440 rs560949663 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19527440 19527441 rs149188456 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 G,T, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19527452 19527453 rs11700496 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.299158 0.245119 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4091.000000,917.000000, 0.816893,0.183107, maf-5-some-pop,maf-5-all-pops 733 chr21 19527462 19527462 rs559241882 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,C, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19527466 19527467 rs59738229 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 733 chr21 19527489 19527490 rs77520715 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19527498 19527499 rs551181513 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19527518 19527519 rs780243761 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19527528 19527529 rs145187180 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19527533 19527533 rs36108562 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 733 chr21 19527610 19527611 rs536967175 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19527678 19527679 rs184890858 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 733 chr21 19527703 19527704 rs567282239 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19527808 19527809 rs115830459 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 733 chr21 19527822 19527823 rs189896612 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19527829 19527830 rs773045200 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19527852 19527853 rs139003456 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19527871 19527872 rs538319099 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19527883 19527884 rs372634313 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19527938 19527939 rs56310131 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,C, 57.000000,4951.000000, 0.011382,0.988618, 733 chr21 19527939 19527940 rs11700527 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.29432 0.24604 intron exact 1 23 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4110.000000,898.000000, 0.820687,0.179313, maf-5-some-pop,maf-5-all-pops 733 chr21 19527957 19527958 rs369042791 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19527979 19527980 rs79271997 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.142272 0.225598 intron exact 1 13 1000GENOMES,BGI,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4622.000000,386.000000, 0.922923,0.077077, maf-5-some-pop 733 chr21 19528040 19528041 rs573202751 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19528052 19528053 rs183200604 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 733 chr21 19528061 19528062 rs758952185 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528064 19528065 rs540599062 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19528065 19528066 rs565271599 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19528089 19528090 rs767117510 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528128 19528129 rs775249680 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528130 19528131 rs141986000 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19528143 19528144 rs2824664 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.17461 0.238362 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 484.000000,4524.000000, 0.096645,0.903355, maf-5-some-pop,genotype-conflict 733 chr21 19528148 19528149 rs17002409 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.070413 0.17392 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 183.000000,4825.000000, 0.036541,0.963458, maf-5-some-pop 733 chr21 19528199 19528199 rs771640467 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528221 19528222 rs762241829 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528228 19528229 rs530280275 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19528244 19528245 rs548943657 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528275 19528276 rs369161374 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 733 chr21 19528296 19528297 rs549090380 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528347 19528348 rs78788311 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,BGI,SSMP, 2 A,T, 10.000000,4998.000000, 0.001997,0.998003, 733 chr21 19528369 19528370 rs187886201 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19528379 19528380 rs546588221 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528390 19528391 rs571126355 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 733 chr21 19528391 19528392 rs148119369 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528395 19528396 rs141871204 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528409 19528410 rs190403485 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528411 19528412 rs531093456 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528412 19528413 rs183311897 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,SSMP, 0 733 chr21 19528420 19528426 rs575545626 0 + AAAGGA AAAGGA -/AAAGGA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AAAGGA, 5.000000,5003.000000, 0.000998,0.999002, 733 chr21 19528430 19528431 rs117922114 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 733 chr21 19528492 19528493 rs554470390 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19528493 19528494 rs551197924 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19528497 19528498 rs780148878 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528499 19528511 rs571115164 0 + AAAGATACTCTT AAAGATACTCTT -/AAAGATACTCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AAAGATACTCTT, 6.000000,5002.000000, 0.001198,0.998802, 733 chr21 19528520 19528521 rs573077386 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 733 chr21 19528524 19528525 rs188710428 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19528591 19528592 rs746125402 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19528596 19528597 rs540176447 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19528614 19528619 rs374910119 0 + ATTTT ATTTT -/ATTTT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 733 chr21 19528618 19528619 rs558933403 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528652 19528653 rs577117722 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19528685 19528686 rs73893007 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.070413 0.17392 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 183.000000,4825.000000, 0.036541,0.963458, maf-5-some-pop 733 chr21 19528707 19528708 rs546673556 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528708 19528709 rs562963419 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19528709 19528710 rs775491092 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19528712 19528713 rs566884274 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528713 19528714 rs530368150 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528715 19528716 rs192548295 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19528734 19528735 rs560444285 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19528785 19528786 rs528006764 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19528830 19528831 rs552545933 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19528855 19528856 rs535558760 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19528891 19528892 rs747126204 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 733 chr21 19528896 19528897 rs748972282 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19528897 19528898 rs150638764 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 49.000000,4959.000000, 0.009784,0.990216, 733 chr21 19528898 19528899 rs12627375 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.28052 0.24813 intron exact 1 22 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 845.000000,4163.000000, 0.168730,0.831270, maf-5-some-pop,maf-5-all-pops 733 chr21 19528906 19528907 rs12627376 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.288906 0.246954 intron exact 1 22 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4131.000000,877.000000, 0.824880,0.175120, maf-5-some-pop,maf-5-all-pops 733 chr21 19528915 19528916 rs550530664 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 733 chr21 19528989 19528990 rs557542792 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 733 chr21 19529008 19529009 rs568589685 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19529009 19529010 rs771683393 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19529011 19529012 rs17002411 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.006369 0.056072 intron exact 1 9 1000GENOMES,AFFY,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, genotype-conflict 733 chr21 19529012 19529013 rs185083600 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19529087 19529088 rs112566228 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19529102 19529103 rs7279503 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499977 0.003394 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2521.000000,2487.000000, 0.503395,0.496605, maf-5-some-pop,maf-5-all-pops 733 chr21 19529119 19529120 rs78526228 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19529132 19529133 rs868241567 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19529134 19529135 rs577353668 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19529143 19529144 rs544616114 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19529189 19529190 rs556726168 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19529195 19529196 rs60735545 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.444533 0.157025 intron exact 1 21 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3338.000000,1670.000000, 0.666534,0.333466, maf-5-some-pop,maf-5-all-pops 733 chr21 19529232 19529233 rs776435385 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19529346 19529347 rs76956625 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 27.000000,4981.000000, 0.005391,0.994609, 733 chr21 19529352 19529353 rs149504835 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 733 chr21 19529353 19529354 rs186767014 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19529356 19529357 rs147228508 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19529403 19529404 rs866386491 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 733 chr21 19529410 19529411 rs191570083 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19529425 19529426 rs115511060 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05961 0.162024 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4854.000000,154.000000, 0.969249,0.030751, maf-5-some-pop 733 chr21 19529430 19529431 rs140576396 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 733 chr21 19529439 19529440 rs562110633 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 733 chr21 19529465 19529466 rs529761291 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19529469 19529469 rs762068018 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 733 chr21 19529479 19529480 rs77039766 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.16846 0.236329 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4543.000000,465.000000, 0.907149,0.092851, maf-5-some-pop 733 chr21 19529522 19529523 rs73314546 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 733 chr21 19529536 19529537 rs79329381 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4935.000000,73.000000, 0.985423,0.014577, maf-5-some-pop 733 chr21 19529539 19529540 rs552493556 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19529540 19529541 rs200205835 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 733 chr21 19529566 19529567 rs74392695 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,C, 30.000000,4978.000000, 0.005990,0.994010, 733 chr21 19529569 19529570 rs538279299 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 733 chr21 19529585 19529586 rs556615544 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 733 chr21 19529627 19529627 rs201818570 0 + - - -/ATCAATATT genomic insertion by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron between 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATCAATATT, 4986.000000,22.000000, 0.995607,0.004393, 733 chr21 19529636 19529637 rs574836443 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19529647 19529648 rs73202904 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 733 chr21 19529666 19529667 rs531441737 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 733 chr21 19529713 19529714 rs2824665 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.214843 0.247516 intron exact 1 20 1000GENOMES,AFFY,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4395.000000,613.000000, 0.877596,0.122404, maf-5-some-pop 733 chr21 19529719 19529720 rs546056344 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 733 chr21 19529720 19529721 rs756968423 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529760 19529761 rs182452720 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19529774 19529775 rs778813315 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529789 19529790 rs745671694 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529805 19529806 rs114717633 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 734 chr21 19529834 19529835 rs57250093 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06856 0.171987 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 178.000000,4830.000000, 0.035543,0.964457, maf-5-some-pop 734 chr21 19529864 19529865 rs76922232 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19529875 19529888 rs763036876 0 + AGCAGATGGCCTA AGCAGATGGCCTA -/AGCAGATGGCCTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529891 19529892 rs144227031 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19529902 19529902 rs766086462 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529923 19529924 rs768341558 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529930 19529931 rs776145281 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529950 19529951 rs761567724 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19529965 19529966 rs548308335 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19530015 19530016 rs533434368 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19530044 19530045 rs559990573 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19530071 19530072 rs527511350 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19530088 19530089 rs770034461 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530117 19530118 rs147760028 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19530207 19530208 rs547303770 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19530210 19530211 rs773580940 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530218 19530219 rs763344372 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530237 19530237 rs750645618 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19530247 19530251 rs574615287 0 + AAAT AAAT -/AAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AAAT, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19530255 19530256 rs369632778 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 734 chr21 19530262 19530263 rs766807706 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530267 19530268 rs570629891 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19530273 19530274 rs531514365 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19530282 19530283 rs34462585 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 intron exact 1 13 1000GENOMES,ABI,BUSHMAN,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM, 2 A,G, 4899.000000,109.000000, 0.978235,0.021765, maf-5-some-pop 734 chr21 19530283 19530283 rs375144766 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 734 chr21 19530285 19530286 rs759604970 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530315 19530316 rs767621283 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530346 19530347 rs535810744 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530386 19530386 rs758493059 0 + - - -/GG genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19530388 19530388 rs34811787 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.49998 0.003195 intron between 1 6 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,SSMP, 2 -,T, 2520.000000,2488.000000, 0.503195,0.496805, maf-5-some-pop,maf-5-all-pops 734 chr21 19530404 19530404 rs397866898 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19530419 19530420 rs148430960 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19530420 19530421 rs535812248 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 2 SSIP,WEILL_CORNELL_DGM, 0 734 chr21 19530427 19530428 rs568505503 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19530440 19530441 rs142583666 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19530498 19530499 rs112224458 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19530512 19530513 rs554268448 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19530529 19530530 rs756307966 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530635 19530636 rs185012994 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19530698 19530699 rs539886509 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19530713 19530714 rs750166710 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530720 19530721 rs150956168 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19530725 19530726 rs780125707 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530753 19530754 rs78436095 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 734 chr21 19530784 19530785 rs190253285 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19530797 19530798 rs780803640 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530853 19530854 rs537992209 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530858 19530859 rs555631418 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19530871 19530872 rs769451962 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530879 19530880 rs772748552 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19530881 19530882 rs574423563 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19530892 19530893 rs141058393 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 734 chr21 19530915 19530916 rs768882725 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19530919 19530920 rs145099838 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 734 chr21 19530920 19530921 rs8130462 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,WI_SSAHASNP, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19530924 19530925 rs34805703 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.144296 0.226554 intron exact 1 17 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 392.000000,4616.000000, 0.078275,0.921725, maf-5-some-pop 734 chr21 19530936 19530937 rs375897106 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19530943 19530944 rs564280281 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19530974 19530975 rs201489828 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 734 chr21 19531051 19531052 rs531523742 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19531064 19531065 rs8132224 0 + A A A/G genomic single by-cluster,by-hapmap,by-1000genomes 0.000399 0.014124 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19531067 19531068 rs568339662 0 + T T A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19531068 19531069 rs769703166 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19531094 19531095 rs145639870 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19531128 19531129 rs772934159 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19531136 19531137 rs138175006 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.046395 0.145069 intron exact 1 4 1000GENOMES,EVA-GONL,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 119.000000,4889.000000, 0.023762,0.976238, maf-5-some-pop 734 chr21 19531150 19531151 rs566035908 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19531151 19531152 rs867393069 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19531155 19531155 rs11423104 0 + - - -/A/AA/AAAA genomic insertion by-cluster 0 0 intron between 1 6 ABI,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PJP,SSMP, 0 rs-cluster-nonoverlapping-alleles 734 chr21 19531172 19531173 rs35744811 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 3 1000GENOMES,ABI,EVA_DECODE, 0 734 chr21 19531172 19531173 rs55872814 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.434109 0.169127 intron exact 1 MixedObserved 15 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,WEILL_CORNELL_DGM, 2 A,G, 3413.000000,1595.000000, 0.681510,0.318490, maf-5-some-pop,maf-5-all-pops 734 chr21 19531174 19531175 rs34741262 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 734 chr21 19531174 19531174 rs71318130 0 + - - -/GA genomic insertion unknown 0.5 0 intron between 1 MixedObserved 1 HUMANGENOME_JCVI, 2 -,GA, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19531222 19531223 rs557790064 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19531252 19531253 rs867216440 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19531279 19531280 rs770421272 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19531307 19531308 rs867606242 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19531360 19531361 rs569956741 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19531373 19531374 rs58019805 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4927.000000,81.000000, 0.983826,0.016174, maf-5-some-pop 734 chr21 19531388 19531389 rs75827555 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 40.000000,4968.000000, 0.007987,0.992013, 734 chr21 19531415 19531416 rs574237751 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19531427 19531428 rs775598847 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531441 19531442 rs77600076 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 4949.000000,59.000000, 0.988219,0.011781, 734 chr21 19531447 19531448 rs78143231 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4945.000000,63.000000, 0.987420,0.012580, 734 chr21 19531534 19531535 rs754169183 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531546 19531547 rs185629621 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19531549 19531550 rs78453037 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19531553 19531554 rs189649678 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19531602 19531603 rs531562662 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,DDI, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19531611 19531612 rs2824666 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.497416 0.03585 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2324.000000,2684.000000, 0.464058,0.535942, maf-5-some-pop,genotype-conflict 734 chr21 19531636 19531637 rs528330963 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19531668 19531669 rs866353256 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19531671 19531672 rs561829373 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19531679 19531680 rs530953207 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19531686 19531687 rs746067537 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531714 19531715 rs543992774 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19531730 19531731 rs78534702 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19531731 19531732 rs766319488 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531758 19531759 rs866841835 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19531777 19531778 rs751520186 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531816 19531817 rs565950354 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19531843 19531844 rs533353529 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19531849 19531850 rs115378776 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19531875 19531876 rs755594970 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531881 19531882 rs11702737 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499946 0.005191 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2478.000000,2530.000000, 0.494808,0.505192, maf-5-some-pop,maf-5-all-pops 734 chr21 19531887 19531888 rs748975983 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531894 19531895 rs537284245 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19531935 19531936 rs180941606 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19531936 19531937 rs73893009 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4923.000000,85.000000, 0.983027,0.016973, maf-5-some-pop 734 chr21 19531965 19531966 rs750688944 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19531982 19531983 rs143304994 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19531984 19531985 rs746259301 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19531991 19531992 rs772563465 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532021 19532022 rs553619150 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532044 19532045 rs571991314 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532097 19532098 rs565214668 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19532177 19532178 rs185158767 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532178 19532179 rs576201225 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19532183 19532184 rs758823523 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19532188 19532189 rs148321274 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19532195 19532196 rs9983581 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.32153 0.239548 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4000.000000,1008.000000, 0.798722,0.201278, maf-5-some-pop 734 chr21 19532201 19532202 rs760794069 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532216 19532217 rs768684000 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532226 19532227 rs543514108 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532233 19532234 rs776963025 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532325 19532326 rs865869148 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19532358 19532359 rs762177853 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532375 19532376 rs561736238 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532378 19532379 rs118079071 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 734 chr21 19532395 19532396 rs751360697 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532400 19532401 rs541007629 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19532410 19532411 rs143646976 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19532428 19532429 rs75094370 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 734 chr21 19532429 19532430 rs78450133 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 734 chr21 19532461 19532462 rs759257317 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532469 19532470 rs533184159 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19532506 19532507 rs767436062 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532510 19532511 rs533531991 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19532525 19532526 rs374734711 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19532529 19532530 rs532115775 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19532540 19532541 rs191837985 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532545 19532546 rs9983949 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49168 0.063958 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2181.000000,2827.000000, 0.435503,0.564497, maf-5-some-pop,maf-5-all-pops 734 chr21 19532576 19532577 rs112488073 0 + A A A/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19532582 19532583 rs530935773 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19532589 19532590 rs184074844 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532678 19532679 rs772257633 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532793 19532794 rs560789651 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19532814 19532815 rs777193330 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532817 19532818 rs13052601 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19532844 19532845 rs371485163 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19532847 19532848 rs138935302 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19532867 19532868 rs529572208 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19532868 19532869 rs367827772 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19532875 19532876 rs142846967 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19532880 19532881 rs571892623 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19532891 19532892 rs539302890 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19532894 19532895 rs557807979 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19532907 19532908 rs753363937 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532912 19532913 rs576060377 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,DDI, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19532941 19532942 rs756860534 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19532945 19532946 rs182962352 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 734 chr21 19532991 19532992 rs748089594 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19533056 19533057 rs375328604 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19533093 19533094 rs117268710 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 734 chr21 19533101 19533102 rs555432340 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19533114 19533115 rs746171541 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533152 19533153 rs777773811 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19533168 19533169 rs772378161 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533181 19533182 rs573801417 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19533218 19533219 rs2026861 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.483272 0.089911 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2962.000000,2046.000000, 0.591454,0.408546, maf-5-some-pop,maf-5-all-pops 734 chr21 19533219 19533220 rs555730652 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19533255 19533256 rs747511008 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533270 19533271 rs559425133 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19533278 19533279 rs150794910 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,G, 51.000000,4957.000000, 0.010184,0.989816, 734 chr21 19533287 19533288 rs34259809 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19533327 19533328 rs768759270 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533371 19533372 rs544878157 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19533381 19533382 rs776805088 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533382 19533383 rs531674809 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19533383 19533384 rs78241507 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.147321 0.227941 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 401.000000,4607.000000, 0.080072,0.919928, maf-5-some-pop 734 chr21 19533409 19533410 rs530801332 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19533427 19533428 rs770078846 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533447 19533449 rs113661679 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.148326 0.228391 intron range 1 12 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP,TISHKOFF, 2 -,AA, 404.000000,4604.000000, 0.080671,0.919329, maf-5-some-pop 734 chr21 19533469 19533470 rs188177327 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19533488 19533489 rs759227102 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19533496 19533497 rs569185216 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19533498 19533499 rs367581997 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,LUNTER, 2 -,A, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19533550 19533551 rs561409980 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19533570 19533571 rs192061992 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19533571 19533572 rs79233888 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 G,T, 4978.000000,30.000000, 0.994010,0.005990, 734 chr21 19533585 19533586 rs767285564 0 + G G A/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533608 19533609 rs567863987 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19533609 19533610 rs368218200 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 734 chr21 19533623 19533624 rs13052741 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19533684 19533685 rs13049350 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 C, 420.000000, 1.000000, 734 chr21 19533709 19533710 rs13049770 0 + A A A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 A, 418.000000, 1.000000, 734 chr21 19533733 19533734 rs760477176 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533739 19533740 rs79801812 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19533744 19533745 rs764048525 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19533750 19533751 rs13049880 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19533751 19533752 rs13049881 0 + A A A/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP, 0 734 chr21 19533791 19533792 rs539342644 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19533851 19533852 rs567540638 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19533858 19533859 rs551254996 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19533861 19533862 rs2824667 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.439502 0.163061 intron exact 1 21 1000GENOMES,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1633.000000,3375.000000, 0.326078,0.673922, maf-5-some-pop,maf-5-all-pops 734 chr21 19533910 19533911 rs537041211 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19533918 19533919 rs374640548 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19533934 19533935 rs991090 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.485664 0.083442 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 2080.000000,2928.000000, 0.415335,0.584665, maf-5-some-pop,maf-5-all-pops 734 chr21 19533940 19533941 rs534387139 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19533958 19533959 rs75368142 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 734 chr21 19533973 19533974 rs182937633 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19533997 19533998 rs79720388 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.148996 0.228688 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4602.000000,406.000000, 0.918930,0.081070, maf-5-some-pop 734 chr21 19534022 19534023 rs8129034 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.050569 0.150756 intron exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 734 chr21 19534023 19534024 rs187287052 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19534026 19534027 rs139063367 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534040 19534041 rs561089849 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534059 19534060 rs2205305 0 - G G A/C genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 734 chr21 19534064 19534065 rs2205304 0 - G G C/T genomic single unknown 0 0 intron exact 1 2 ABI,TSC-CSHL, 0 734 chr21 19534069 19534070 rs78576965 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.148661 0.22854 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4603.000000,405.000000, 0.919129,0.080871, maf-5-some-pop 734 chr21 19534070 19534071 rs149872030 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19534103 19534104 rs565487570 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19534157 19534158 rs540782217 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534162 19534163 rs2205303 0 - G G C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 C, 420.000000, 1.000000, 734 chr21 19534179 19534180 rs770058839 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534214 19534215 rs143970154 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 52.000000,4956.000000, 0.010383,0.989617, 734 chr21 19534253 19534254 rs773567794 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534259 19534260 rs551342985 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19534266 19534267 rs569550803 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534275 19534276 rs560564853 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534307 19534308 rs529590734 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19534332 19534333 rs191859074 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19534441 19534445 rs773244035 0 + CTCT CTCT -/CTCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534471 19534472 rs749577010 0 + G G C/G genomic single unknown 0 0 intron exact 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534524 19534525 rs775104042 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534534 19534535 rs548979755 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534541 19534542 rs567125909 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19534546 19534547 rs534720723 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534578 19534579 rs370870826 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 734 chr21 19534590 19534591 rs571153638 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19534608 19534609 rs760521198 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534613 19534614 rs538422623 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534640 19534641 rs183668759 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19534663 19534664 rs575184377 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534687 19534688 rs542527716 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19534695 19534696 rs776605832 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534728 19534731 rs74264944 0 + TCT TCT -/TCT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 BCMHGSC_JDW, 0 734 chr21 19534728 19534734 rs199923567 0 + TCTCTC TCTCTC -/TCTCTC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 734 chr21 19534728 19534730 rs796807886 0 + TC TC -/TC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 3 1000GENOMES,HAMMER_LAB,LUNTER, 0 734 chr21 19534728 19534728 rs373191252 0 + - - -/TC/TCTC/TCTCTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.224116 0.248656 intron between 1 MixedObserved,InconsistentAlleles 5 1000GENOMES,BILGI_BIOE,HAMMER_LAB,LUNTER,SSMP, 2 -,TCTC, 4364.000000,644.000000, 0.871406,0.128594, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 734 chr21 19534729 19534729 rs58978469 0 + - - -/CTCTCT/TC/TT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 GMI,HUMANGENOME_JCVI, 1 CTCTCT, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 734 chr21 19534747 19534748 rs542944254 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 734 chr21 19534751 19534752 rs143587487 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BL, 0 734 chr21 19534751 19534753 rs369601655 0 + CT CT -/CTT genomic in-del unknown 0 0 intron range 1 MixedObserved,ObservedMismatch 2 TISHKOFF,TSC-CSHL, 0 734 chr21 19534752 19534754 rs796257999 0 + TT TT -/TT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534753 19534754 rs75820589 0 + T T C/T genomic single by-cluster,by-frequency 0.444444 0.157135 intron exact 1 MixedObserved 5 BL,BUSHMAN,ENSEMBL,GMI,WEILL_CORNELL_DGM, 2 C,T, 4.000000,2.000000, 0.666667,0.333333, 734 chr21 19534753 19534753 rs397953638 0 + - - -/CTCT/CTTT/TT genomic insertion by-cluster 0 0 intron between 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 0 rs-cluster-nonoverlapping-alleles 734 chr21 19534757 19534758 rs142731001 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19534759 19534760 rs145005296 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19534765 19534766 rs79895526 0 + C C C/T genomic single by-frequency 0.5 0 intron exact 1 2 BUSHMAN,ENSEMBL, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 734 chr21 19534777 19534778 rs554950246 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534784 19534785 rs909262 0 - A A A/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19534791 19534792 rs540761614 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534817 19534818 rs767869534 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19534819 19534820 rs764766311 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534835 19534836 rs909261 0 - T T A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.307176 0.243374 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 949.000000,4059.000000, 0.189497,0.810503, maf-5-some-pop 734 chr21 19534840 19534841 rs531564156 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19534859 19534860 rs766088887 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534903 19534904 rs375312311 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19534909 19534910 rs148628681 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19534925 19534926 rs563037844 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19534931 19534932 rs530447127 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19534946 19534947 rs548555647 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19534949 19534950 rs751806157 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19534959 19534960 rs567266127 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19534974 19534975 rs143819254 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19535021 19535022 rs186826488 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19535029 19535030 rs571002713 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19535037 19535037 rs571669007 0 + - - -/TATT genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 734 chr21 19535052 19535055 rs527822464 0 + TCT TCT -/TCT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 734 chr21 19535057 19535058 rs146833094 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 61.000000,4947.000000, 0.012180,0.987819, 734 chr21 19535068 19535073 rs754557086 0 + ATTAC ATTAC -/ATTAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19535072 19535073 rs550366356 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19535127 19535128 rs568932435 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535137 19535138 rs536565033 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535165 19535166 rs73202908 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 32.000000,4976.000000, 0.006390,0.993610, 734 chr21 19535185 19535186 rs140659222 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535203 19535204 rs144559286 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19535231 19535232 rs151110862 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19535241 19535242 rs140955893 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19535247 19535248 rs150184683 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 734 chr21 19535259 19535260 rs563095001 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19535343 19535344 rs756234262 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19535353 19535354 rs574898596 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19535376 19535377 rs542541459 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19535391 19535392 rs560622991 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535404 19535405 rs528132228 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19535433 19535434 rs193008324 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535454 19535455 rs564495532 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535468 19535469 rs567376672 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19535484 19535485 rs138829466 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535499 19535500 rs550227544 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19535501 19535502 rs770989635 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19535502 19535503 rs2824668 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.471768 0.115407 intron exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1909.000000,3099.000000, 0.381190,0.618810, maf-5-some-pop,maf-5-all-pops 734 chr21 19535511 19535512 rs778835544 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19535528 19535529 rs746764950 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19535590 19535591 rs2824669 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.438806 0.163867 intron exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3380.000000,1628.000000, 0.674920,0.325080, maf-5-some-pop,maf-5-all-pops 734 chr21 19535615 19535616 rs569985277 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19535649 19535650 rs548511351 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19535679 19535680 rs538589935 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19535697 19535698 rs141602895 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19535701 19535702 rs761787957 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19535705 19535706 rs775154201 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19535761 19535762 rs558994398 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19535765 19535766 rs557937529 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19535773 19535774 rs145983082 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19535807 19535807 rs35496356 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19535831 19535832 rs2824670 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.484771 0.085921 intron exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2067.000000,2941.000000, 0.412740,0.587260, maf-5-some-pop,maf-5-all-pops 734 chr21 19535838 19535839 rs768260222 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19535856 19535857 rs17002415 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 734 chr21 19535860 19535861 rs138866754 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19535886 19535887 rs185871931 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535901 19535902 rs572655531 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535934 19535935 rs142802532 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19535935 19535936 rs564555491 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535978 19535979 rs2824671 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.485664 0.083442 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2928.000000,2080.000000, 0.584665,0.415335, maf-5-some-pop,maf-5-all-pops 734 chr21 19535982 19535983 rs550290501 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19535987 19535988 rs762531943 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19535996 19535997 rs765891749 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536006 19536007 rs199778832 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19536007 19536008 rs2824672 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.464735 0.128019 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1839.000000,3169.000000, 0.367212,0.632788, maf-5-some-pop,maf-5-all-pops 734 chr21 19536029 19536030 rs7283449 0 + T T G/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19536045 19536046 rs116454234 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4985.000000,23.000000, 0.995407,0.004593, 734 chr21 19536096 19536097 rs566613751 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19536097 19536098 rs527603981 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19536102 19536103 rs144637517 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19536103 19536104 rs71319674 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 7 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HUMANGENOME_JCVI,WEILL_CORNELL_DGM, 2 G,T, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 734 chr21 19536112 19536112 rs199810622 0 + - - -/G genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19536113 19536114 rs2824673 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.495781 0.045732 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2274.000000,2734.000000, 0.454073,0.545927, maf-5-some-pop,maf-5-all-pops 734 chr21 19536113 19536116 rs386816739 0 + TTA TTA ATT/TTA genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 734 chr21 19536113 19536113 rs60861169 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.456095 0.141508 intron between 1 MixedObserved 12 1000GENOMES,BILGI_BIOE,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,LUNTER,TISHKOFF, 2 -,A, 3246.000000,1762.000000, 0.648163,0.351837, maf-5-some-pop,maf-5-all-pops 734 chr21 19536114 19536115 rs187595471 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 EVA_GENOME_DK,MPI_MOLGEN, 0 734 chr21 19536114 19536114 rs72398073 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 PJP, 0 734 chr21 19536115 19536116 rs10211959 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 5 1000GENOMES,BGI,ILLUMINA,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4814.000000,194.000000, 0.961262,0.038738, maf-5-some-pop 734 chr21 19536159 19536160 rs768039020 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536163 19536164 rs368702171 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19536166 19536167 rs182115777 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19536191 19536192 rs148055861 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 MixedObserved 2 1000GENOMES,TISHKOFF, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19536191 19536193 rs538425597 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AT, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19536208 19536209 rs753237114 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536211 19536212 rs183898331 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19536219 19536220 rs141636941 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19536228 19536229 rs543388753 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19536244 19536245 rs150501876 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19536263 19536264 rs143227588 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19536270 19536271 rs372560742 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19536337 19536338 rs778343222 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536384 19536385 rs2824674 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.210605 0.246877 intron exact 1 21 1000GENOMES,AFFY,BCM-HGSC-SUB,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4409.000000,599.000000, 0.880391,0.119609, maf-5-some-pop 734 chr21 19536442 19536443 rs757413352 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536497 19536498 rs778996773 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536504 19536505 rs752993572 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19536518 19536519 rs577738904 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19536555 19536556 rs746126698 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536570 19536571 rs562462914 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19536587 19536588 rs768416824 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536615 19536616 rs370495022 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19536617 19536618 rs529754552 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19536637 19536638 rs62213374 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 intron exact 1 10 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,SSMP, 2 C,T, 4906.000000,102.000000, 0.979633,0.020367, maf-5-some-pop 734 chr21 19536654 19536655 rs749703109 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536731 19536732 rs560104275 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19536744 19536745 rs114465886 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 734 chr21 19536760 19536761 rs576333134 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19536768 19536769 rs747968227 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19536784 19536785 rs74412239 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.161924 0.233971 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 445.000000,4563.000000, 0.088858,0.911142, maf-5-some-pop 734 chr21 19536942 19536943 rs146212334 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19536950 19536951 rs531599316 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19536962 19536963 rs549913555 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19536974 19536975 rs568416962 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19536982 19536983 rs565180031 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19536990 19536991 rs527763342 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19536993 19536994 rs116767949 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19537005 19537007 rs113451877 0 + AT AT -/AT genomic deletion by-cluster 0.5 0 intron range 1 4 BILGI_BIOE,BUSHMAN,GMI,SSMP, 2 -,AT, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19537006 19537007 rs201922640 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 GMI,ILLUMINA, 0 734 chr21 19537006 19537006 rs796437910 0 + - - -/TCTAGTCATTTCC genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19537007 19537007 rs60324506 0 + - - lengthTooLong genomic in-del by-cluster,by-frequency,by-1000genomes 0.326741 0.23793 intron between 1 ObservedTooLong 9 1000GENOMES,BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,CTAGTCATTTCCTCCTAGTCATTTCCTC, 1030.000000,3978.000000, 0.205671,0.794329, maf-5-some-pop,maf-5-all-pops 734 chr21 19537008 19537008 rs386394357 0 + - - -/CTAGTCATTTCCTC genomic insertion unknown 0 0 intron between 1 1 PJP, 0 734 chr21 19537021 19537022 rs200737282 0 - A A G/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 GMI,ILLUMINA, 0 734 chr21 19537021 19537021 rs397762745 0 + - - -/CTAGTCATTTCCTC genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 3 BCMHGSC_JDW,HGSV,HUMANGENOME_JCVI, 1 CTAGTCATTTCCTC, 2.000000, 1.000000, 734 chr21 19537096 19537097 rs370816064 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19537100 19537101 rs867740959 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19537102 19537103 rs535593840 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19537106 19537107 rs374467460 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19537132 19537134 rs746138417 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537163 19537164 rs772397883 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537166 19537167 rs773216475 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537257 19537258 rs762359392 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537265 19537266 rs1109381 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.418491 0.184691 intron exact 1 20 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 1493.000000,3515.000000, 0.298123,0.701877, maf-5-some-pop,maf-5-all-pops 734 chr21 19537276 19537277 rs777886470 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 734 chr21 19537299 19537300 rs1109382 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.479014 0.100263 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1991.000000,3017.000000, 0.397564,0.602436, maf-5-some-pop,maf-5-all-pops 734 chr21 19537366 19537367 rs539643001 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19537402 19537403 rs558070852 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19537412 19537413 rs576337519 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19537436 19537437 rs7278224 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.152334 0.230133 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 416.000000,4592.000000, 0.083067,0.916933, maf-5-some-pop 734 chr21 19537443 19537444 rs555906881 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19537471 19537472 rs367831987 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19537490 19537491 rs865974662 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19537493 19537494 rs574339459 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19537514 19537515 rs117427055 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 4 1000GENOMES,GMI,ILLUMINA,SSMP, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, maf-5-some-pop 734 chr21 19537542 19537543 rs767306662 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537559 19537560 rs139721132 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 734 chr21 19537567 19537567 rs745621981 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19537574 19537575 rs527526737 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19537591 19537592 rs546032322 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19537607 19537609 rs747116706 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537609 19537610 rs564229277 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19537621 19537622 rs758209819 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19537622 19537623 rs9980898 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19537623 19537624 rs9978003 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19537689 19537690 rs753040597 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537716 19537717 rs914124 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,ABI,JMKIDD_LAB,TSC-CSHL, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19537726 19537727 rs550017206 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19537733 19537734 rs17002426 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 4 1000GENOMES,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM, 2 A,C, 33.000000,4975.000000, 0.006589,0.993411, 734 chr21 19537744 19537745 rs539994686 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19537773 19537774 rs529266347 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19537817 19537818 rs368216853 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19537839 19537840 rs188428341 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19537841 19537842 rs754433848 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19537848 19537849 rs539507430 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19537902 19537903 rs551561621 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19537921 19537922 rs569885615 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19537957 19537958 rs537358031 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19537970 19537971 rs750523249 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538000 19538001 rs145416827 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19538006 19538007 rs909260 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.477515 0.103619 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3035.000000,1973.000000, 0.606030,0.393970, maf-5-some-pop,maf-5-all-pops,genotype-conflict 734 chr21 19538016 19538017 rs535425684 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19538032 19538033 rs553946652 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19538109 19538110 rs538976432 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19538114 19538115 rs747881950 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538121 19538122 rs545889107 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19538160 19538161 rs552149717 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538161 19538162 rs149210326 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 C,G, 4984.000000,24.000000, 0.995208,0.004792, 734 chr21 19538188 19538189 rs371357861 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19538221 19538222 rs749290663 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538238 19538239 rs181244374 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19538285 19538286 rs543380681 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19538297 19538298 rs562013725 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19538317 19538318 rs529311182 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19538328 19538329 rs547779285 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19538350 19538351 rs909259 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.175897 0.238765 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4520.000000,488.000000, 0.902556,0.097444, maf-5-some-pop 734 chr21 19538362 19538363 rs369285198 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19538375 19538376 rs909258 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.175576 0.238665 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 487.000000,4521.000000, 0.097244,0.902756, maf-5-some-pop 734 chr21 19538393 19538394 rs184908003 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19538426 19538427 rs4618143 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.420574 0.182769 intron exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1506.000000,3502.000000, 0.300719,0.699281, maf-5-some-pop 734 chr21 19538524 19538525 rs569948919 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19538525 19538526 rs771788115 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538558 19538559 rs142273602 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19538583 19538584 rs189459396 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19538587 19538588 rs567936244 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19538590 19538591 rs369596544 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19538594 19538595 rs534963137 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19538632 19538633 rs374907177 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19538649 19538650 rs79861585 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,T, 53.000000,4955.000000, 0.010583,0.989417, maf-5-some-pop 734 chr21 19538659 19538660 rs572038820 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19538773 19538774 rs761113260 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538776 19538777 rs536403105 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19538783 19538784 rs117710791 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 53.000000,4955.000000, 0.010583,0.989417, maf-5-some-pop 734 chr21 19538833 19538834 rs9982726 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4879.000000,129.000000, 0.974241,0.025759, maf-5-some-pop 734 chr21 19538834 19538835 rs58705898 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 intron exact 1 13 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 734 chr21 19538840 19538841 rs4320003 0 + A A A/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19538878 19538879 rs765695517 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538881 19538885 rs545404169 0 + AAAC AAAC -/AAAC genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 734 chr21 19538883 19538884 rs750437624 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538895 19538896 rs758488081 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19538899 19538900 rs573881305 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19538919 19538920 rs540899443 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19538920 19538921 rs559336496 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19538950 19538951 rs768045275 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19538987 19538988 rs533140110 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19539010 19539011 rs545124070 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19539067 19539068 rs766576742 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19539071 19539072 rs373069183 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 734 chr21 19539108 19539109 rs75581218 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4964.000000,44.000000, 0.991214,0.008786, 734 chr21 19539110 19539111 rs549560644 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19539204 19539205 rs141531683 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19539221 19539222 rs528799734 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19539258 19539259 rs547299539 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19539296 19539297 rs182073896 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19539397 19539398 rs553562653 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19539411 19539412 rs539438982 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19539461 19539462 rs557927214 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19539463 19539464 rs147075220 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19539474 19539475 rs536701230 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19539501 19539502 rs541433801 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19539518 19539520 rs72086452 0 + TC TC -/TC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 6 EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,SSIP,SSMP, 0 734 chr21 19539518 19539522 rs144397022 0 + TCTC TCTC -/TCTC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19539520 19539522 rs754439279 0 + TC TC -/TC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19539523 19539524 rs201069076 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19539525 19539526 rs202167354 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 GMI,WEILL_CORNELL_DGM, 0 734 chr21 19539526 19539530 rs71882800 0 + TCTG TCTG -/TCTG genomic deletion unknown 0 0 intron range 1 1 PJP, 0 734 chr21 19539526 19539526 rs769948179 0 + - - -/TCTGTG genomic insertion unknown 0 0 intron between 1 1 DDI, 0 734 chr21 19539527 19539528 rs9637045 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele 0.408163 0.193609 intron exact 1 MixedObserved 8 BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HAMMER_LAB,SC_SNP,SSAHASNP, 2 C,G, 2.000000,5.000000, 0.285714,0.714286, 734 chr21 19539527 19539531 rs71189586 0 + CTGT CTGT -/CTGT genomic deletion unknown 0 0 intron range 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 734 chr21 19539528 19539532 rs375494797 0 + TGTG TGTG -/TGTG genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19539529 19539530 rs7281464 0 + G G C/G genomic single by-cluster 0.5 0 intron exact 1 MixedObserved 2 BCM_SSAHASNP,BUSHMAN, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19539529 19539542 rs780486679 0 + GTGTGTGTGTGTG GTGTGTGTGTGTG C/GTGTGTGTGTGTG genomic in-del unknown 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 EVA_GENOME_DK, 0 734 chr21 19539529 19539532 rs796759598 0 + GTG GTG CTC/GTG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 734 chr21 19539529 19539529 rs60622968 0 + - - -/CT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 734 chr21 19539531 19539532 rs7281465 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 734 chr21 19539541 19539542 rs796477957 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 PADH-LAB_SPU,WEILL_CORNELL_DGM, 0 734 chr21 19539542 19539543 rs202157235 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 GMI,HAMMER_LAB, 0 734 chr21 19539544 19539545 rs77891550 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.352721 0.227922 intron exact 1 5 1000GENOMES,ENSEMBL,EVA-GONL,GMI,WEILL_CORNELL_DGM, 2 G,T, 1145.000000,3863.000000, 0.228634,0.771366, maf-5-some-pop,maf-5-all-pops 734 chr21 19539546 19539547 rs201055989 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 GMI,HAMMER_LAB, 0 734 chr21 19539548 19539549 rs71329776 0 + T T GGTGG/TGT genomic in-del unknown 0.5 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,ObservedMismatch 1 HUMANGENOME_JCVI, 2 GGTGG,TGT, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19539548 19539549 rs80306094 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.350546 0.22889 intron exact 1 MixedObserved 5 1000GENOMES,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,WEILL_CORNELL_DGM, 2 G,T, 1135.000000,3873.000000, 0.226637,0.773363, maf-5-some-pop,maf-5-all-pops 734 chr21 19539550 19539551 rs549989757 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19539579 19539580 rs13052713 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19539581 19539582 rs7283139 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19539626 19539626 rs71318131 0 + - - -/TTTT genomic insertion unknown 0.5 0 intron between 1 1 HUMANGENOME_JCVI, 2 -,TTTT, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19539627 19539627 rs146616733 0 + - - -/TTTT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 734 chr21 19539641 19539644 rs79374307 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 734 chr21 19539666 19539667 rs573593170 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19539699 19539700 rs753888927 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19539703 19539704 rs577659596 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19539705 19539706 rs77588563 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.202343 0.245416 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4436.000000,572.000000, 0.885783,0.114217, maf-5-some-pop 734 chr21 19539712 19539713 rs563491538 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19539769 19539770 rs531058311 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19539771 19539772 rs765109044 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19539786 19539787 rs542724198 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19539792 19539793 rs9305847 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.476936 0.104882 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 3009.000000,1945.000000, 0.607388,0.392612, maf-5-some-pop,maf-5-all-pops 734 chr21 19539793 19539793 rs201321229 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.034638 0.126961 intron between 1 2 1000GENOMES,SSMP, 2 -,T, 3009.000000,54.000000, 0.982370,0.017630, 734 chr21 19539812 19539813 rs7283455 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 734 chr21 19539827 19539828 rs375560764 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19539832 19539833 rs9974959 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.475081 0.108804 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3063.000000,1945.000000, 0.611621,0.388379, maf-5-some-pop,maf-5-all-pops 734 chr21 19539833 19539834 rs143032894 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 65.000000,4943.000000, 0.012979,0.987021, 734 chr21 19539890 19539891 rs571961448 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19539914 19539915 rs187628800 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19539920 19539921 rs138552024 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19539948 19539949 rs771771773 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19539949 19539950 rs569521729 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19539964 19539965 rs751195731 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19539967 19539968 rs537164835 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19540100 19540101 rs115197104 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4917.000000,91.000000, 0.981829,0.018171, maf-5-some-pop 734 chr21 19540122 19540123 rs141507212 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19540140 19540141 rs780717124 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19540150 19540151 rs376155422 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19540180 19540181 rs115786899 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4962.000000,46.000000, 0.990815,0.009185, 734 chr21 19540224 19540225 rs552888119 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19540232 19540233 rs577521642 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19540263 19540264 rs538496049 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19540285 19540286 rs547131495 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19540294 19540295 rs746722860 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19540356 19540357 rs8130112 0 + A A A/C genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19540381 19540382 rs769213370 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19540382 19540383 rs372142739 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19540394 19540395 rs575537164 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19540426 19540427 rs543136969 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19540440 19540441 rs8133856 0 + T T C/T genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19540458 19540459 rs573519717 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19540507 19540508 rs540840758 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19540584 19540585 rs779544091 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19540616 19540617 rs191500303 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19540671 19540672 rs116453710 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.053593 0.154675 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 138.000000,4870.000000, 0.027556,0.972444, maf-5-some-pop 734 chr21 19540721 19540722 rs79040778 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4921.000000,87.000000, 0.982628,0.017372, maf-5-some-pop 734 chr21 19540749 19540750 rs9637046 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.466515 0.124985 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3152.000000,1856.000000, 0.629393,0.370607, maf-5-some-pop,maf-5-all-pops 734 chr21 19540769 19540770 rs530403036 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19540770 19540771 rs9977038 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.12932 0.218944 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4660.000000,348.000000, 0.930511,0.069489, maf-5-some-pop 734 chr21 19540819 19540820 rs376783434 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19540822 19540823 rs760960951 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19540832 19540833 rs141955501 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19540843 19540844 rs73202921 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.197703 0.244469 intron exact 1 12 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4451.000000,557.000000, 0.888778,0.111222, maf-5-some-pop 734 chr21 19540845 19540846 rs182942571 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19540848 19540849 rs9978114 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4893.000000,115.000000, 0.977037,0.022963, maf-5-some-pop 734 chr21 19540850 19540851 rs538585170 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19540852 19540853 rs556955717 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19540862 19540863 rs575642611 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19540913 19540914 rs117137039 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19540916 19540917 rs554909834 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19540972 19540973 rs573378612 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19540974 19540975 rs796198946 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19540977 19540978 rs572698854 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19541031 19541032 rs757054813 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19541072 19541073 rs778987146 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19541082 19541083 rs186159534 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19541181 19541182 rs565493719 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19541183 19541184 rs577497911 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19541204 19541205 rs150654420 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19541243 19541244 rs139993678 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4943.000000,65.000000, 0.987021,0.012979, 734 chr21 19541245 19541246 rs542581604 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19541278 19541279 rs190088976 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19541319 19541320 rs11911479 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.153997 0.230832 intron exact 1 19 1000GENOMES,AFFY,BCM-HGSC-SUB,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 421.000000,4587.000000, 0.084065,0.915935, maf-5-some-pop,microattr-tpa 734 chr21 19541379 19541380 rs555042313 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19541471 19541472 rs746531636 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19541483 19541484 rs560498653 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19541499 19541500 rs528193321 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19541527 19541528 rs369472821 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19541558 19541559 rs546275846 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19541590 19541591 rs553886847 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19541615 19541616 rs2142258 0 - A A C/T genomic single by-cluster,by-frequency,by-1000genomes 0.410905 0.191336 intron exact 1 20 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1447.000000,3561.000000, 0.288938,0.711062, maf-5-some-pop,maf-5-all-pops 734 chr21 19541657 19541658 rs538454652 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19541672 19541673 rs550895257 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19541678 19541679 rs569066999 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19541682 19541683 rs776161767 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19541696 19541697 rs756675464 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 734 chr21 19541728 19541729 rs536499949 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19541751 19541752 rs201689076 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.057178 0.159122 intron exact 1 2 1000GENOMES,GMI, 2 -,T, 135.000000,4448.000000, 0.029457,0.970543, maf-5-some-pop 734 chr21 19541751 19541751 rs146924561 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 9 1000GENOMES,BILGI_BIOE,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSIP, 0 734 chr21 19541752 19541752 rs530200446 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.159218 0.232935 intron between 1 1 1000GENOMES, 2 -,T, 4448.000000,425.000000, 0.912785,0.087215, maf-5-some-pop 734 chr21 19541761 19541762 rs10446095 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.44546 0.155869 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3331.000000,1677.000000, 0.665136,0.334864, maf-5-some-pop,maf-5-all-pops 734 chr21 19541808 19541809 rs73202922 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.197082 0.244335 intron exact 1 12 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4453.000000,555.000000, 0.889177,0.110823, maf-5-some-pop 734 chr21 19541810 19541811 rs534321076 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19541818 19541819 rs76402959 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 734 chr21 19541833 19541833 rs35712103 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19541856 19541857 rs866765615 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19541866 19541867 rs562487260 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19541870 19541871 rs182689827 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19541872 19541873 rs77576591 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19541878 19541879 rs541843931 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19541881 19541882 rs575911149 0 + T T A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19541897 19541898 rs766897620 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19541938 19541939 rs149861875 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19541962 19541963 rs200663553 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19541982 19541983 rs575032663 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19541995 19541996 rs542479923 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19542027 19542028 rs546001779 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19542038 19542039 rs2142257 0 - C C A/C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.127998 0.218384 intron exact 1 SingleClassTriAllelic 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 3 A,C,G, 2.000000,4664.000000,342.000000, 0.000399,0.931310,0.068291, maf-5-some-pop 734 chr21 19542054 19542055 rs8127376 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.403158 0.197592 intron exact 1 20 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 3606.000000,1402.000000, 0.720048,0.279952, maf-5-some-pop,maf-5-all-pops 734 chr21 19542055 19542056 rs187586838 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542111 19542112 rs550506161 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542146 19542147 rs547869521 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19542220 19542221 rs192794967 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19542233 19542234 rs545010022 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19542295 19542296 rs548486589 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542315 19542316 rs566899633 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542342 19542343 rs534180700 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19542365 19542366 rs761635345 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542366 19542367 rs765170092 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542378 19542379 rs559134458 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542419 19542420 rs560702130 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19542423 19542424 rs183806654 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19542432 19542433 rs750264411 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542450 19542451 rs189163518 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19542472 19542473 rs780144239 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542503 19542504 rs35539814 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19542513 19542514 rs530505436 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19542536 19542537 rs193120263 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19542537 19542538 rs550227185 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19542539 19542540 rs147956881 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542574 19542575 rs570235352 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542622 19542623 rs184213386 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19542641 19542642 rs139903509 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 64.000000,4944.000000, 0.012780,0.987220, 734 chr21 19542659 19542660 rs572548231 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19542698 19542699 rs539854111 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542778 19542779 rs564493675 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19542801 19542802 rs780895214 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542802 19542803 rs532129474 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19542804 19542805 rs544261708 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19542808 19542809 rs371203360 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19542824 19542825 rs188966625 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19542846 19542847 rs747798346 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542870 19542871 rs529875373 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19542871 19542872 rs778066062 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542887 19542888 rs548548712 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542888 19542889 rs566762925 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542896 19542897 rs749687833 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542899 19542900 rs527541718 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19542904 19542905 rs771365349 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19542933 19542935 rs146643775 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron range 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,CT, 36.000000,4972.000000, 0.007188,0.992812, 734 chr21 19542971 19542972 rs145342824 0 + A A A/G genomic single by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4976.000000,32.000000, 0.993610,0.006390, 734 chr21 19542978 19542979 rs546939604 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSIP, 2 -,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19542996 19542997 rs570793786 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19542997 19542998 rs774775052 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19543031 19543032 rs537967110 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19543077 19543078 rs768949698 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19543144 19543145 rs776879487 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19543151 19543155 rs539328675 0 + TAAC TAAC -/TAAC genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,TAAC, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19543154 19543155 rs376022272 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19543209 19543210 rs550231746 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19543294 19543295 rs564925695 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 A,T, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19543322 19543323 rs535646578 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19543354 19543355 rs191478563 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19543367 19543368 rs73202925 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.199254 0.244796 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 562.000000,4446.000000, 0.112220,0.887780, maf-5-some-pop 734 chr21 19543406 19543407 rs572410175 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19543408 19543409 rs539716238 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19543427 19543427 rs773214913 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19543429 19543429 rs138826296 0 + - - -/C/TC genomic insertion by-cluster,by-frequency,by-1000genomes 0.310386 0.242597 intron between 1 InconsistentAlleles 7 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TC, 4046.000000,962.000000, 0.807907,0.192093, maf-5-some-pop,maf-5-all-pops 734 chr21 19543430 19543431 rs35789815 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.386313 0.209568 intron exact 1 MixedObserved 10 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,ENSEMBL,EVA_GENOME_DK,GMI,HGSV,ILLUMINA,WEILL_CORNELL_DGM, 2 C,G, 3698.000000,1310.000000, 0.738419,0.261581, maf-5-some-pop,maf-5-all-pops 734 chr21 19543430 19543432 rs796158633 0 + GT GT CTG/GT genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 734 chr21 19543430 19543430 rs200380460 0 + - - -/C/CT genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved 2 1000GENOMES,GMI, 0 734 chr21 19543431 19543432 rs199767934 0 + T T -/T genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19543432 19543433 rs74783310 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 2 ENSEMBL,GMI, 1 G, 2.000000, 1.000000, 734 chr21 19543432 19543432 rs35194523 0 + - - -/G genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved 12 1000GENOMES,ABI,BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,PADH-LAB_SPU,SSIP,SSMP, 0 734 chr21 19543449 19543449 rs529777749 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron between 1 2 1000GENOMES,SSIP, 2 -,A, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19543457 19543458 rs117894144 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 52.000000,4956.000000, 0.010383,0.989617, maf-5-some-pop 734 chr21 19543479 19543480 rs35213552 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.209388 0.246679 intron exact 1 MixedObserved 10 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,EVA_GENOME_DK,GMI,HAMMER_LAB,PJP,SSMP, 2 -,T, 4413.000000,595.000000, 0.881190,0.118810, maf-5-some-pop 734 chr21 19543479 19543480 rs79999884 0 + T T C/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 BGI,BL, 0 734 chr21 19543509 19543510 rs145277939 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19543513 19543514 rs370592769 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19543514 19543515 rs373995094 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19543517 19543518 rs10446096 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 7 BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,GMI,HAMMER_LAB,SC_SNP,WEILL_CORNELL_DGM, 1 C, 2.000000, 1.000000, 734 chr21 19543518 19543519 rs868376098 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19543534 19543535 rs137866188 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19543535 19543536 rs138320689 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19543546 19543547 rs184144380 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19543555 19543556 rs544001993 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19543583 19543584 rs147698139 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.128288 0.218372 intron exact 1 5 1000GENOMES,EVA-GONL,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4663.000000,345.000000, 0.931110,0.068890, maf-5-some-pop 734 chr21 19543591 19543592 rs867398084 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19543606 19543607 rs535373162 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19543611 19543612 rs9975861 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.011514 0.074997 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 734 chr21 19543615 19543616 rs542054549 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19543624 19543625 rs368284593 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19543625 19543626 rs560339627 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19543642 19543643 rs527603632 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19543678 19543679 rs527391010 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19543679 19543680 rs371251304 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, 734 chr21 19543713 19543714 rs372823566 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 3 EVA-GONL,SSMP,TISHKOFF, 0 734 chr21 19543725 19543726 rs564355584 0 + T T G/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 G,T, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19543755 19543756 rs531731039 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19543771 19543772 rs4317014 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.460813 0.134379 intron exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3205.000000,1803.000000, 0.639976,0.360024, maf-5-some-pop,maf-5-all-pops 734 chr21 19543802 19543803 rs568553707 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19543818 19543819 rs557465360 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19543819 19543820 rs547607763 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19543842 19543843 rs28828976 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 116.000000,4892.000000, 0.023163,0.976837, maf-5-some-pop 734 chr21 19543859 19543860 rs79401617 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 734 chr21 19543874 19543875 rs558409524 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19543906 19543907 rs9976473 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 A, 4.000000, 1.000000, 734 chr21 19543907 19543908 rs9975465 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 G, 4.000000, 1.000000, 734 chr21 19543959 19543960 rs774181549 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19543991 19543992 rs576809290 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19544002 19544003 rs545639302 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19544024 19544025 rs569202492 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19544038 19544039 rs35312269 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 9 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4939.000000,69.000000, 0.986222,0.013778, 734 chr21 19544044 19544045 rs555845414 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19544051 19544052 rs201413216 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19544053 19544054 rs71189587 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 3 GMI,HAMMER_LAB,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 734 chr21 19544053 19544055 rs200227605 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 5 1000GENOMES,BILGI_BIOE,BUSHMAN,GMI,HAMMER_LAB, 2 -,TT, 3931.000000,1077.000000, 0.784944,0.215056, maf-5-some-pop,maf-5-all-pops 734 chr21 19544053 19544056 rs760195672 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544053 19544053 rs796431422 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HAMMER_LAB, 0 734 chr21 19544054 19544056 rs781468422 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544055 19544056 rs752392192 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544064 19544065 rs202208043 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19544066 19544067 rs76354131 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 BL,GMI, 0 734 chr21 19544112 19544113 rs528374750 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19544130 19544130 rs548263036 0 + - - -/C/CCC genomic insertion by-cluster 0 0 intron between 1 4 EVA_DECODE,EVA_GENOME_DK,SSIP,SSMP, 0 734 chr21 19544131 19544134 rs71318132 0 + TAG TAG CCT/TAG genomic mnp unknown 0.5 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HUMANGENOME_JCVI, 2 CCT,TAG, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19544131 19544134 rs386816740 0 + TAG TAG CCCT/TAG genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 TISHKOFF, 0 734 chr21 19544131 19544131 rs368700857 0 + - - -/CCC genomic insertion by-cluster 0 0 intron between 1 MixedObserved 1 LUNTER, 0 734 chr21 19544132 19544134 rs202008301 0 + AG AG -/AG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 3 1000GENOMES,EVA_DECODE,EVA_GENOME_DK, 0 734 chr21 19544144 19544148 rs752246513 0 + AGTT AGTT -/AGTT genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 734 chr21 19544154 19544155 rs114202132 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 734 chr21 19544163 19544164 rs368756911 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19544220 19544221 rs2824677 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.445592 0.155704 intron exact 1 27 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1678.000000,3330.000000, 0.335064,0.664936, maf-5-some-pop,maf-5-all-pops 734 chr21 19544229 19544230 rs572252100 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19544259 19544260 rs189121007 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19544312 19544313 rs547205844 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19544315 19544316 rs750174871 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544324 19544325 rs79310473 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 G,T, 113.000000,4895.000000, 0.022564,0.977436, maf-5-some-pop 734 chr21 19544355 19544356 rs766407325 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544374 19544375 rs9978777 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 C, 418.000000, 1.000000, 734 chr21 19544384 19544385 rs550154360 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19544399 19544400 rs560715134 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19544425 19544426 rs561907334 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19544444 19544445 rs181019721 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19544474 19544475 rs199941871 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 -,T, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19544491 19544492 rs754481066 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544493 19544494 rs150973408 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19544579 19544580 rs565961318 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19544584 19544585 rs533345446 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19544588 19544589 rs553990850 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19544609 19544610 rs752277315 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544637 19544638 rs755726332 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544651 19544652 rs186048264 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19544665 19544666 rs570337363 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19544673 19544674 rs777411776 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544677 19544678 rs140824023 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19544686 19544687 rs7276598 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 6 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 734 chr21 19544724 19544725 rs568022564 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19544735 19544736 rs550161719 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19544738 19544739 rs2142256 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493432 0.056931 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2217.000000,2791.000000, 0.442692,0.557308, maf-5-some-pop,maf-5-all-pops 734 chr21 19544756 19544757 rs747508672 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19544765 19544766 rs553879079 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19544788 19544789 rs539237087 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19544790 19544791 rs779440806 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544832 19544833 rs572312630 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19544887 19544888 rs71189588 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.401924 0.198543 intron exact 1 MixedObserved 12 1000GENOMES,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 1395.000000,3613.000000, 0.278554,0.721446, maf-5-some-pop,maf-5-all-pops 734 chr21 19544887 19544888 rs77274999 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 3 BGI,GMI,TISHKOFF, 0 734 chr21 19544887 19544889 rs370809371 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 734 chr21 19544888 19544890 rs747807367 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 4 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU, 0 734 chr21 19544888 19544889 rs796173112 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 HAMMER_LAB, 0 734 chr21 19544896 19544898 rs368208061 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19544897 19544898 rs371282815 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 TISHKOFF, 0 734 chr21 19544897 19544898 rs545991462 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19544902 19544903 rs746408975 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544941 19544941 rs780428133 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19544999 19545000 rs150174295 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19545014 19545015 rs374165999 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19545082 19545082 rs35317850 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19545085 19545086 rs775390929 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545087 19545088 rs543317340 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545108 19545109 rs760840773 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545145 19545146 rs141546611 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19545154 19545155 rs768941949 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545160 19545161 rs777052453 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545171 19545172 rs145209225 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 734 chr21 19545229 19545230 rs137937276 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19545296 19545297 rs190506864 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545320 19545321 rs747169761 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545324 19545325 rs781464271 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19545325 19545326 rs748556385 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19545341 19545342 rs115944584 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 734 chr21 19545414 19545415 rs116234254 0 + G G A/G genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 734 chr21 19545428 19545429 rs774325432 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545466 19545467 rs57547366 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 13 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 734 chr21 19545468 19545469 rs767491398 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545539 19545540 rs531248353 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545554 19545555 rs149472782 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19545559 19545560 rs568088815 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19545560 19545561 rs755640033 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545565 19545566 rs181952863 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545580 19545581 rs9982558 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.253544 0.249975 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 746.000000,4262.000000, 0.148962,0.851038, maf-5-some-pop 734 chr21 19545588 19545589 rs34022224 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.409552 0.192466 intron exact 1 20 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3569.000000,1439.000000, 0.712660,0.287340, maf-5-some-pop,maf-5-all-pops 734 chr21 19545597 19545598 rs539134667 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19545621 19545622 rs779092384 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545622 19545623 rs746250507 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545626 19545627 rs758793038 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545639 19545640 rs557948542 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19545643 19545644 rs576142643 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19545665 19545666 rs780633879 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545666 19545667 rs529569595 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19545672 19545673 rs548868561 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19545683 19545684 rs747063628 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545684 19545685 rs143945306 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 83.000000,4925.000000, 0.016573,0.983427, maf-5-some-pop 734 chr21 19545688 19545689 rs768897037 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545689 19545690 rs555241239 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545705 19545706 rs370087404 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19545714 19545715 rs541036308 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19545717 19545718 rs148782203 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19545804 19545805 rs377334420 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19545824 19545825 rs533488649 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545845 19545846 rs545135160 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19545854 19545855 rs564001328 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,JMKIDD_LAB, 0 734 chr21 19545869 19545870 rs563939008 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19545916 19545917 rs770066332 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545920 19545921 rs11911044 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.153665 0.230694 intron exact 1 16 1000GENOMES,ABI,BCM-HGSC-SUB,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 420.000000,4588.000000, 0.083866,0.916134, maf-5-some-pop 734 chr21 19545927 19545928 rs537395885 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19545930 19545931 rs79544406 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4961.000000,47.000000, 0.990615,0.009385, 734 chr21 19545941 19545942 rs767304070 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19545946 19545947 rs561579202 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545962 19545963 rs528751114 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19545971 19545972 rs577257877 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19545999 19546000 rs73893010 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 734 chr21 19546008 19546009 rs565648712 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19546011 19546012 rs77377228 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 734 chr21 19546031 19546032 rs760177535 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19546034 19546035 rs147545697 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546047 19546048 rs569879953 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19546048 19546049 rs373557708 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19546051 19546052 rs753361965 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19546095 19546096 rs185910484 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19546096 19546097 rs555100462 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546104 19546105 rs190825064 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19546119 19546120 rs140155355 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19546141 19546142 rs145370232 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19546151 19546152 rs549447121 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19546152 19546153 rs756794850 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19546177 19546178 rs577939969 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546184 19546185 rs545509899 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546193 19546194 rs764973872 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19546297 19546298 rs147655570 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19546299 19546300 rs575833259 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546377 19546378 rs543248945 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19546387 19546388 rs182646226 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19546411 19546412 rs528812556 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19546415 19546417 rs10549862 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.136847 0.222927 intron range 1 MixedObserved 7 1000GENOMES,BILGI_BIOE,DDI,EVA_GENOME_DK,GMI,LUNTER,SSMP, 2 -,AT, 4638.000000,370.000000, 0.926118,0.073882, maf-5-some-pop 734 chr21 19546415 19546419 rs781103377 0 + ATAT ATAT -/ATAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19546416 19546417 rs8128606 0 + T T G/T genomic single by-cluster,by-2hit-2allele 0 0 intron exact 1 SingleAlleleFreq 9 BCM-HGSC-SUB,DDI,ENSEMBL,GMI,ILLUMINA,PJP,SSAHASNP,WI_SSAHASNP,WUGSC_SSAHASNP, 1 G, 4.000000, 1.000000, 734 chr21 19546417 19546419 rs772883365 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19546418 19546419 rs201669547 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.136847 0.222927 intron exact 1 5 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,GMI,WEILL_CORNELL_DGM, 2 G,T, 4638.000000,370.000000, 0.926118,0.073882, maf-5-some-pop 734 chr21 19546431 19546432 rs866279631 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 734 chr21 19546431 19546431 rs74205706 0 + - - lengthTooLong genomic in-del unknown 0 0 intron between 1 MixedObserved,ObservedTooLong,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 CTTGGTATATATATATATATATATATATATATATATAT, 2.000000, 1.000000, 734 chr21 19546437 19546439 rs72095730 0 + GT GT -/GT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 734 chr21 19546438 19546454 rs377310968 0 + TGTATATATATATATA TGTATATATATATATA -/TGTATATATATATATA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 BILGI_BIOE, 0 734 chr21 19546438 19546456 rs746257750 0 + TGTATATATATATATATA TGTATATATATATATATA -/TGTATATATATATATATA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_GENOME_DK, 0 734 chr21 19546439 19546440 rs4818407 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 GMI,SC_SNP,SSAHASNP,WI_SSAHASNP, 0 734 chr21 19546456 19546456 rs372176442 0 + - - -/TCTTGG genomic insertion by-cluster 0 0 intron between 1 1 LUNTER, 0 734 chr21 19546457 19546458 rs866833841 0 + A A A/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 1 WEILL_CORNELL_DGM, 0 734 chr21 19546458 19546459 rs867746820 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19546468 19546469 rs866268667 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19546469 19546469 rs71189589 0 + - - lengthTooLong genomic in-del unknown 0 0 intron between 1 ObservedTooLong,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 CTTGGTATATATATATATATATCTTGGTATATATATATATCTTGGTATATATATATATATATATATATATATCTTGGTATATATATATATATATAT, 2.000000, 1.000000, 734 chr21 19546473 19546474 rs8133554 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.395635 0.2032 intron exact 1 7 1000GENOMES,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3648.000000,1360.000000, 0.728435,0.271565, maf-5-some-pop,maf-5-all-pops 734 chr21 19546604 19546605 rs532788074 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19546609 19546610 rs551495415 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19546613 19546614 rs2824679 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499104 0.021147 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2398.000000,2610.000000, 0.478834,0.521166, maf-5-some-pop,maf-5-all-pops 734 chr21 19546631 19546632 rs186706720 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546640 19546641 rs548786537 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19546646 19546647 rs567089280 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19546682 19546683 rs572957798 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19546683 19546684 rs139786202 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546725 19546726 rs2824680 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.201727 0.245295 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4438.000000,570.000000, 0.886182,0.113818, maf-5-some-pop 734 chr21 19546750 19546751 rs561601432 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19546773 19546774 rs77091014 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19546781 19546782 rs557276852 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19546814 19546815 rs866828785 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19546830 19546831 rs575672322 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19546864 19546865 rs543113022 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546899 19546900 rs868626806 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19546922 19546923 rs749298653 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19546954 19546955 rs76104269 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.153332 0.230554 intron exact 1 12 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4589.000000,419.000000, 0.916334,0.083666, maf-5-some-pop 734 chr21 19546957 19546958 rs573454139 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19546963 19546964 rs569550070 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 A,T, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19546975 19546976 rs145749818 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19546978 19546979 rs532801290 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19546990 19546991 rs544680483 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19546995 19546996 rs563265634 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19547018 19547019 rs190689936 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19547039 19547040 rs182700429 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19547055 19547056 rs370907280 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19547058 19547059 rs548652892 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19547092 19547093 rs567149261 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19547096 19547097 rs781360612 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547143 19547144 rs187642170 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19547153 19547157 rs774305016 0 + AGTA AGTA -/AGTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547196 19547197 rs748240864 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547204 19547205 rs547797819 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19547206 19547207 rs546912012 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19547224 19547225 rs149094600 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19547241 19547242 rs773501437 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547275 19547276 rs537824617 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 A,T, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19547276 19547277 rs745624430 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547305 19547306 rs13046184 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19547315 19547316 rs192330693 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19547328 19547329 rs771973453 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547355 19547356 rs569222443 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19547417 19547418 rs143339159 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19547418 19547419 rs775396218 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547473 19547474 rs10482895 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.094856 0.196037 intron exact 1 12 1000GENOMES,AFFY,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 250.000000,4758.000000, 0.049920,0.950080, maf-5-some-pop,genotype-conflict 734 chr21 19547497 19547498 rs768587170 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547499 19547500 rs71319675 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 9 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4940.000000,68.000000, 0.986422,0.013578, 734 chr21 19547502 19547503 rs761410314 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547526 19547527 rs540840717 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19547555 19547556 rs764775848 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547557 19547558 rs559059644 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19547725 19547726 rs750130307 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547754 19547754 rs756794309 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19547768 19547769 rs183236708 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19547802 19547803 rs9976823 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.456332 0.141164 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1764.000000,3244.000000, 0.352236,0.647764, maf-5-some-pop,maf-5-all-pops 734 chr21 19547806 19547807 rs766908112 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547819 19547820 rs187349528 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19547866 19547867 rs530403580 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19547870 19547871 rs12482866 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.02016 0.098354 intron exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,SSMP, 2 C,T, 51.000000,4957.000000, 0.010184,0.989816, 734 chr21 19547910 19547911 rs201786679 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19547921 19547922 rs546710811 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19547945 19547946 rs751984232 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19547968 19547969 rs192247382 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19547998 19547998 rs34632397 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19548013 19548014 rs569886880 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19548034 19548035 rs184673534 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19548046 19548050 rs145120562 0 + AGAG AGAG -/AGAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.198324 0.244601 intron range 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AGAG, 559.000000,4449.000000, 0.111621,0.888379, maf-5-some-pop 734 chr21 19548048 19548052 rs369215885 0 + AGAG AGAG -/AGAG genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19548065 19548066 rs546501580 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19548118 19548118 rs34571651 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19548120 19548121 rs75620301 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.153997 0.230832 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4587.000000,421.000000, 0.915935,0.084065, maf-5-some-pop 734 chr21 19548126 19548127 rs781722745 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19548160 19548161 rs748468911 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19548183 19548187 rs67225635 0 + GAAA GAAA -/GAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.497668 0.034066 intron range 1 13 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,GAAA, 2333.000000,2675.000000, 0.465855,0.534145, maf-5-some-pop,maf-5-all-pops 734 chr21 19548188 19548190 rs200751198 0 + AA AA -/AA genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 734 chr21 19548189 19548193 rs34896269 0 + AAGA AAGA -/AAGA genomic deletion by-cluster 0 0 intron range 1 3 ABI,PJP,TISHKOFF, 0 734 chr21 19548227 19548228 rs532338895 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19548231 19548232 rs2178915 0 - G G C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.386694 0.20932 intron exact 1 26 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3696.000000,1312.000000, 0.738019,0.261981, maf-5-some-pop,maf-5-all-pops 734 chr21 19548336 19548337 rs752667238 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19548341 19548342 rs569323515 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19548375 19548376 rs749554729 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19548410 19548411 rs756263021 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19548423 19548424 rs7509985 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 734 chr21 19548454 19548455 rs536641333 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19548456 19548457 rs145249546 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4954.000000,54.000000, 0.989217,0.010783, 734 chr21 19548507 19548508 rs189741960 0 + G G A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_GENOME_DK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19548509 19548510 rs376194550 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 -,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19548524 19548525 rs137903175 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19548571 19548572 rs777857172 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19548578 19548580 rs575299590 0 + GT GT -/GT genomic deletion by-frequency,by-1000genomes 0.003588 0.042202 intron range 1 1 1000GENOMES, 2 -,GT, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19548589 19548590 rs749585932 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19548602 19548603 rs558898932 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19548603 19548604 rs376119501 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19548619 19548620 rs140700274 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19548625 19548626 rs75851034 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 46.000000,4962.000000, 0.009185,0.990815, 734 chr21 19548637 19548638 rs192741055 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19548658 19548659 rs771041361 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19548668 19548669 rs184287183 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19548718 19548719 rs796962858 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 734 chr21 19548723 19548728 rs763696935 0 + TATAC TATAC -/TATAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19548745 19548746 rs150122330 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19548747 19548748 rs537782953 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19548787 19548788 rs540663248 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19548846 19548846 rs35855628 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19548871 19548872 rs779760797 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19548882 19548883 rs367941611 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19548916 19548917 rs550992744 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19548925 19548926 rs866570868 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19548962 19548963 rs746839782 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19548984 19548985 rs572620064 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19549030 19549031 rs138436822 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19549077 19549078 rs189192260 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19549098 19549099 rs181916548 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19549137 19549138 rs768533691 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19549164 19549165 rs78659551 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,G, 105.000000,4903.000000, 0.020967,0.979034, maf-5-some-pop 734 chr21 19549215 19549216 rs376453403 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19549297 19549298 rs562782751 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19549310 19549311 rs369614013 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19549361 19549362 rs551366775 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19549378 19549379 rs201882821 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 -,A, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19549413 19549414 rs374294267 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19549428 19549429 rs866848096 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19549470 19549471 rs566836353 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19549478 19549479 rs377263561 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19549482 19549483 rs761198235 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19549509 19549510 rs534065797 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19549511 19549512 rs9977946 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19549576 19549577 rs774353219 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19549656 19549657 rs552615852 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19549722 19549723 rs185077417 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19549735 19549736 rs769413061 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19549736 19549737 rs772725908 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19549746 19549746 rs745976158 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19549752 19549753 rs538423518 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19549769 19549771 rs753262111 0 + GC GC -/GC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19549771 19549772 rs556297495 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19549804 19549805 rs771838043 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19549808 19549809 rs1546827 0 - T T A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.489318 0.072298 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 2870.000000,2138.000000, 0.573083,0.426917, maf-5-some-pop,maf-5-all-pops 734 chr21 19549821 19549822 rs571369992 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19549857 19549858 rs539463977 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19549868 19549869 rs766132507 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19549873 19549874 rs149408794 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19549929 19549930 rs189008387 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19549945 19549946 rs572484395 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19549946 19549947 rs1546826 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.06335 0.166319 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 734 chr21 19549966 19549967 rs80116346 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19549970 19549971 rs753283194 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19549998 19549999 rs181688775 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19550023 19550024 rs12626825 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.144632 0.226711 intron exact 1 16 1000GENOMES,ABI,BGI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4615.000000,393.000000, 0.921526,0.078474, maf-5-some-pop 734 chr21 19550056 19550057 rs147502570 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19550061 19550062 rs530030957 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19550092 19550093 rs138544474 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19550139 19550140 rs753871145 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19550155 19550156 rs560497820 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19550180 19550181 rs144055539 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19550181 19550182 rs79554390 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 734 chr21 19550196 19550196 rs560940262 0 + - - -/CAA genomic insertion by-frequency,by-1000genomes 0.004781 0.048658 intron between 1 1 1000GENOMES, 2 -,CAA, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19550197 19550198 rs2824681 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.25214 0.249991 intron exact 1 16 1000GENOMES,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4267.000000,741.000000, 0.852037,0.147963, maf-5-some-pop,maf-5-all-pops 734 chr21 19550230 19550231 rs78000935 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015484 0.086874 intron exact 1 SingleClassTriAllelic 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 21.000000,18.000000,4969.000000, 0.004193,0.003594,0.992212, 734 chr21 19550254 19550255 rs746786577 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19550262 19550263 rs147323521 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19550273 19550274 rs2824682 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.24134 0.24985 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4305.000000,703.000000, 0.859625,0.140375, maf-5-some-pop 734 chr21 19550276 19550277 rs535774818 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19550285 19550286 rs554041124 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19550301 19550302 rs748174251 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19550350 19550351 rs58468843 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.267636 0.249377 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 797.000000,4211.000000, 0.159145,0.840855, maf-5-some-pop,maf-5-all-pops 734 chr21 19550448 19550449 rs2824683 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499942 0.005391 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2477.000000,2531.000000, 0.494609,0.505391, maf-5-some-pop,maf-5-all-pops 734 chr21 19550459 19550460 rs145439620 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19550461 19550462 rs558222579 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19550470 19550471 rs114526566 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4913.000000,95.000000, 0.981030,0.018970, 734 chr21 19550485 19550486 rs186851801 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19550507 19550508 rs544288489 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19550522 19550523 rs370474476 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19550592 19550593 rs148729783 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 32.000000,4976.000000, 0.006390,0.993610, 734 chr21 19550638 19550639 rs142264629 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19550656 19550657 rs774192587 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19550666 19550667 rs759943597 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19550704 19550705 rs542189252 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19550730 19550731 rs560146072 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19550744 19550745 rs560463264 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19550767 19550768 rs768055740 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19550780 19550781 rs368266728 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19550781 19550782 rs8127764 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.482159 0.092748 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2977.000000,2031.000000, 0.594449,0.405551, maf-5-some-pop,maf-5-all-pops 734 chr21 19550782 19550783 rs73893012 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 734 chr21 19550802 19550803 rs73893013 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4937.000000,71.000000, 0.985823,0.014177, maf-5-some-pop 734 chr21 19550850 19550851 rs531867905 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19550876 19550877 rs549841754 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19550909 19550910 rs548793160 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19550972 19550973 rs764543179 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551015 19551016 rs753907571 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551016 19551017 rs9981720 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.243633 0.249919 intron exact 1 17 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4297.000000,711.000000, 0.858027,0.141973, maf-5-some-pop 734 chr21 19551032 19551033 rs150855283 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 734 chr21 19551062 19551068 rs765689815 0 + TTGGTC TTGGTC -/TTGGTC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551065 19551066 rs547547677 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19551143 19551144 rs374335632 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19551146 19551147 rs570196827 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19551147 19551148 rs539719115 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19551155 19551156 rs558540865 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19551182 19551183 rs535621328 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19551188 19551189 rs549242344 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551191 19551192 rs537965804 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551232 19551233 rs139291472 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19551237 19551238 rs574723710 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19551274 19551275 rs757365910 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19551283 19551284 rs2824684 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.482309 0.092371 intron exact 1 29 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2033.000000,2975.000000, 0.405950,0.594050, maf-5-some-pop,maf-5-all-pops 734 chr21 19551301 19551302 rs780981443 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551312 19551313 rs371969707 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551317 19551318 rs551219385 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551325 19551326 rs80284232 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19551336 19551337 rs9975746 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.251014 0.249998 intron exact 1 29 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4271.000000,737.000000, 0.852835,0.147165, maf-5-some-pop 734 chr21 19551360 19551361 rs564533953 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19551375 19551376 rs531595645 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551391 19551391 rs780551117 0 + - - -/CACATA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551404 19551405 rs772241385 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19551441 19551442 rs777591239 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551447 19551448 rs543550907 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551454 19551455 rs35090637 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19551476 19551477 rs557423500 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19551484 19551485 rs762277591 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 734 chr21 19551523 19551524 rs9305848 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.053593 0.154675 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,KRIBB_YJKIM,SC_SNP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4870.000000,138.000000, 0.972444,0.027556, maf-5-some-pop 734 chr21 19551525 19551526 rs780107706 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19551530 19551531 rs770600561 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551549 19551550 rs143377560 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19551600 19551601 rs774139318 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551605 19551606 rs745462908 0 + T T A/C/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551612 19551613 rs775886978 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551619 19551620 rs112659026 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19551624 19551625 rs191283911 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19551625 19551626 rs760972921 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551627 19551628 rs2824685 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.381113 0.21286 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1283.000000,3725.000000, 0.256190,0.743810, maf-5-some-pop,maf-5-all-pops 734 chr21 19551631 19551632 rs533716577 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19551664 19551665 rs866782524 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19551665 19551666 rs181302248 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551697 19551698 rs570472450 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551722 19551723 rs2824686 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.279726 0.248226 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 842.000000,4166.000000, 0.168131,0.831869, maf-5-some-pop 734 chr21 19551755 19551756 rs78711553 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.147321 0.227941 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 401.000000,4607.000000, 0.080072,0.919928, maf-5-some-pop 734 chr21 19551794 19551795 rs568164156 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19551797 19551798 rs535513206 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19551831 19551832 rs146713090 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19551849 19551850 rs572127634 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551851 19551851 rs140655311 0 + - - -/G genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19551852 19551852 rs149623503 0 + - - -/GT genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19551864 19551865 rs539769703 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551872 19551873 rs557758535 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19551902 19551903 rs113743815 0 + C C A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551939 19551940 rs543417759 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19551946 19551947 rs750514828 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19551948 19551949 rs75076464 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,C, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 734 chr21 19551965 19551966 rs115622439 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19551974 19551975 rs541152641 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19551979 19551980 rs140335112 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19551980 19551981 rs113125969 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19552002 19552003 rs529800664 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19552004 19552005 rs772936487 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19552073 19552074 rs766538491 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552080 19552081 rs533358070 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19552081 19552082 rs552088670 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552112 19552113 rs200033782 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19552121 19552122 rs752486054 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552122 19552123 rs144172789 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19552123 19552124 rs755907723 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552127 19552128 rs777730828 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552141 19552142 rs531182900 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552142 19552143 rs549824524 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552148 19552149 rs568024377 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552171 19552174 rs546839188 0 + CTT CTT -/CTT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,CTT, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19552196 19552197 rs568745327 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19552216 19552217 rs547174052 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552225 19552226 rs757277972 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552245 19552246 rs145066519 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552264 19552265 rs59108760 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.187369 0.242028 intron exact 1 16 1000GENOMES,BCM-HGSC-SUB,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 524.000000,4484.000000, 0.104633,0.895367, maf-5-some-pop 734 chr21 19552277 19552278 rs375728488 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19552286 19552287 rs149042781 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19552302 19552303 rs575955741 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552306 19552307 rs771709713 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552341 19552342 rs536915907 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19552343 19552344 rs73893014 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.208779 0.246578 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4415.000000,593.000000, 0.881589,0.118411, maf-5-some-pop 734 chr21 19552433 19552433 rs34647900 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19552442 19552443 rs764599269 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19552462 19552463 rs74430573 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19552537 19552538 rs747371078 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552538 19552539 rs540185283 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19552547 19552548 rs185891753 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA_DECODE, 0 734 chr21 19552557 19552558 rs777110909 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552597 19552598 rs559581547 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19552604 19552605 rs148226477 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19552621 19552622 rs573779761 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19552627 19552628 rs370350452 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19552632 19552633 rs545274414 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552655 19552656 rs542773992 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19552661 19552662 rs563843210 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552668 19552669 rs376003447 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19552676 19552677 rs28502778 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSAHASNP, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19552682 19552683 rs549682493 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552686 19552687 rs770290117 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552701 19552704 rs781428357 0 + TCC TCC -/TCC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552717 19552718 rs147090857 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19552792 19552793 rs773233687 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19552807 19552808 rs75336909 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.175897 0.238765 intron exact 1 MixedObserved 13 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 488.000000,4520.000000, 0.097444,0.902556, maf-5-some-pop 734 chr21 19552807 19552809 rs386816741 0 + TG TG AC/TG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 734 chr21 19552808 19552809 rs2824687 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.479502 0.099141 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3011.000000,1997.000000, 0.601238,0.398762, maf-5-some-pop,genotype-conflict 734 chr21 19552814 19552815 rs376327426 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19552820 19552821 rs73314602 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.078151 0.181571 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4804.000000,204.000000, 0.959265,0.040735, maf-5-some-pop 734 chr21 19552864 19552865 rs868016514 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19552869 19552870 rs200853781 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19552873 19552874 rs371005062 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19552879 19552880 rs2824688 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498009 0.031487 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2346.000000,2662.000000, 0.468450,0.531550, maf-5-some-pop,maf-5-all-pops,genotype-conflict 734 chr21 19552931 19552932 rs754892910 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19552971 19552971 rs35119088 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19552983 19552984 rs763849819 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553016 19553017 rs564757398 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553095 19553096 rs189887732 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19553102 19553103 rs555237209 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19553103 19553104 rs567361583 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19553141 19553142 rs115415656 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4895.000000,113.000000, 0.977436,0.022564, maf-5-some-pop 734 chr21 19553184 19553185 rs779018213 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553188 19553189 rs749933557 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553231 19553232 rs4816766 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.232359 0.249377 intron exact 1 22 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4336.000000,672.000000, 0.865815,0.134185, maf-5-some-pop,genotype-conflict 734 chr21 19553255 19553256 rs368388056 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19553276 19553277 rs578049995 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19553300 19553304 rs375131547 0 + TAAA TAAA -/TAAA genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 734 chr21 19553335 19553338 rs769845701 0 + TAG TAG -/TAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553379 19553380 rs11911141 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.212728 0.247206 intron exact 1 17 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 606.000000,4402.000000, 0.121006,0.878994, maf-5-some-pop 734 chr21 19553380 19553381 rs183194994 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19553391 19553392 rs769676756 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19553415 19553416 rs78438105 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.056231 0.157967 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 145.000000,4863.000000, 0.028954,0.971046, maf-5-some-pop 734 chr21 19553424 19553425 rs144926739 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 5 1000GENOMES,EVA_DECODE,GMI,LUNTER,SSMP, 2 -,T, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 734 chr21 19553426 19553427 rs575884603 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19553473 19553474 rs117554149 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19553478 19553479 rs532643363 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19553495 19553496 rs79279621 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19553555 19553556 rs143989418 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19553580 19553584 rs778733102 0 + ATAT ATAT -/ATAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553607 19553608 rs111986051 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19553632 19553633 rs748542665 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553659 19553660 rs770235023 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553668 19553669 rs187877836 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19553681 19553682 rs559270387 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19553705 19553706 rs190989250 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19553741 19553742 rs551041518 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19553742 19553743 rs569563706 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19553749 19553750 rs8133177 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.170733 0.237101 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4536.000000,472.000000, 0.905751,0.094249, maf-5-some-pop 734 chr21 19553757 19553758 rs548726386 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19553758 19553759 rs10470205 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.057734 0.159793 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SC_SNP,WEILL_CORNELL_DGM, 2 A,G, 149.000000,4859.000000, 0.029752,0.970248, maf-5-some-pop 734 chr21 19553761 19553762 rs534889332 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19553774 19553775 rs774615383 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553811 19553812 rs10470100 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,HAMMER_LAB,SC_SNP,WEILL_CORNELL_DGM, 0 734 chr21 19553819 19553820 rs367918305 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19553843 19553844 rs34651475 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 9 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,WEILL_CORNELL_DGM, 2 C,T, 4954.000000,54.000000, 0.989217,0.010783, 734 chr21 19553844 19553845 rs538784392 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19553870 19553871 rs557481726 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19553879 19553880 rs557678192 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19553908 19553909 rs571512895 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19553920 19553921 rs575768838 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19553938 19553939 rs148536090 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19553939 19553940 rs767887817 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19553942 19553943 rs372205340 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19553952 19553953 rs4816767 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.492237 0.061815 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2816.000000,2192.000000, 0.562300,0.437700, maf-5-some-pop,maf-5-all-pops 734 chr21 19553985 19553986 rs183542777 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19553987 19553988 rs188422171 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19553999 19554000 rs573476054 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19554002 19554003 rs540908779 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19554033 19554034 rs559115673 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19554046 19554047 rs532940369 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19554076 19554077 rs553708927 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554097 19554098 rs765237193 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554117 19554118 rs80259739 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19554160 19554161 rs757912729 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554207 19554208 rs73316203 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19554256 19554257 rs192822747 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19554291 19554292 rs765699383 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19554301 19554302 rs530473640 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19554332 19554333 rs750597996 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19554351 19554352 rs779374974 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554460 19554461 rs368298120 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19554461 19554462 rs751083782 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554499 19554500 rs372615867 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19554538 19554539 rs548784538 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19554570 19554571 rs146089940 0 + T T C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19554582 19554583 rs528408950 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19554583 19554584 rs754546680 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554596 19554597 rs546850500 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19554626 19554627 rs780842871 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554672 19554673 rs571597918 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19554701 19554702 rs868536036 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19554719 19554720 rs115593789 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19554826 19554827 rs766709203 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19554899 19554900 rs78040418 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.052082 0.152737 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4874.000000,134.000000, 0.973243,0.026757, maf-5-some-pop 734 chr21 19554969 19554970 rs76872395 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 734 chr21 19554983 19554987 rs771925114 0 + AATA AATA -/AATA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19554989 19554990 rs778245894 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555044 19555045 rs2824689 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.245916 0.249967 intron exact 1 14 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 719.000000,4289.000000, 0.143570,0.856430, maf-5-some-pop 734 chr21 19555101 19555102 rs555238825 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19555114 19555115 rs534070515 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19555118 19555118 rs544779727 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 734 chr21 19555129 19555130 rs184968180 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19555130 19555131 rs534273423 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19555176 19555177 rs559196858 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19555189 19555190 rs564571175 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555217 19555218 rs774259087 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555231 19555232 rs577422372 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19555247 19555248 rs2824690 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.34989 0.229177 intron exact 1 16 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3876.000000,1132.000000, 0.773962,0.226038, maf-5-some-pop,maf-5-all-pops 734 chr21 19555248 19555249 rs562914927 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19555289 19555290 rs772404078 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555312 19555313 rs575010662 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19555345 19555346 rs2824691 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.384976 0.210431 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1303.000000,3705.000000, 0.260184,0.739816, maf-5-some-pop 734 chr21 19555348 19555349 rs560954154 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19555357 19555358 rs372961218 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19555388 19555388 rs570181639 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron between 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,SSMP, 2 -,C, 4983.000000,25.000000, 0.995008,0.004992, 734 chr21 19555389 19555390 rs553526085 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 3 1000GENOMES,EVA_DECODE,SSIP, 2 A,T, 25.000000,4983.000000, 0.004992,0.995008, 734 chr21 19555390 19555391 rs73202938 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19555403 19555410 rs768212128 0 + CTTTTAA CTTTTAA -/CTTTTAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555454 19555455 rs114973049 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 734 chr21 19555459 19555460 rs532421953 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19555485 19555486 rs186759483 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19555525 19555526 rs569262404 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19555525 19555525 rs35047863 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 734 chr21 19555566 19555567 rs773073514 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555589 19555590 rs774024352 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19555595 19555596 rs529223653 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555618 19555619 rs369608172 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19555627 19555628 rs548663477 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19555651 19555652 rs112399260 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19555681 19555682 rs750985408 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555697 19555698 rs548970587 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19555702 19555703 rs373833069 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19555719 19555720 rs77368826 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4917.000000,91.000000, 0.981829,0.018171, maf-5-some-pop 734 chr21 19555761 19555762 rs1006688 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.2462 0.249971 intron exact 1 17 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 720.000000,4288.000000, 0.143770,0.856230, maf-5-some-pop 734 chr21 19555922 19555923 rs558835095 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19555941 19555942 rs531752925 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19555946 19555947 rs371584862 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19555948 19555949 rs1006689 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.479258 0.099702 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3014.000000,1994.000000, 0.601837,0.398163, maf-5-some-pop 734 chr21 19555951 19555952 rs191559217 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19555982 19555983 rs377459905 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19556004 19556005 rs571383714 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19556013 19556014 rs534081170 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19556015 19556016 rs1002244 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.341909 0.232492 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3912.000000,1096.000000, 0.781150,0.218850, maf-5-some-pop,maf-5-all-pops 734 chr21 19556026 19556027 rs375275606 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19556045 19556046 rs763254634 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19556048 19556049 rs868383652 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19556052 19556053 rs75288695 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF, 2 A,G, 79.000000,4929.000000, 0.015775,0.984225, 734 chr21 19556109 19556110 rs112834643 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19556113 19556114 rs751875985 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19556126 19556127 rs113362564 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 734 chr21 19556128 19556129 rs78521374 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.47934 0.099515 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 9 1000GENOMES,BL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1995.000000,3013.000000, 0.398363,0.601637, maf-5-some-pop,maf-5-all-pops 734 chr21 19556128 19556129 rs369308559 0 + C C AG/C genomic in-del unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 TISHKOFF, 0 734 chr21 19556128 19556128 rs111348238 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.47934 0.099515 intron between 1 MixedObserved 9 1000GENOMES,BUSHMAN,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,A, 1995.000000,3013.000000, 0.398363,0.601637, maf-5-some-pop,maf-5-all-pops 734 chr21 19556130 19556130 rs67476177 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_DECODE,GMI, 0 734 chr21 19556149 19556150 rs536211695 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19556171 19556172 rs370607846 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556186 19556187 rs747170130 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19556229 19556230 rs769005394 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19556249 19556250 rs532484336 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556251 19556252 rs184827734 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19556282 19556283 rs80098489 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.226188 0.248863 intron exact 1 9 1000GENOMES,BGI,BL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,WEILL_CORNELL_DGM, 2 A,T, 651.000000,4357.000000, 0.129992,0.870008, maf-5-some-pop,maf-5-all-pops 734 chr21 19556301 19556302 rs144090757 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19556324 19556325 rs34490109 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19556351 19556352 rs2824692 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.497387 0.036048 intron exact 1 22 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 2685.000000,2323.000000, 0.536142,0.463858, maf-5-some-pop,maf-5-all-pops 734 chr21 19556385 19556386 rs566956980 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19556392 19556393 rs774386612 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19556395 19556396 rs189349288 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19556417 19556418 rs552751334 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19556424 19556425 rs28633927 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.099873 0.199905 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4744.000000,264.000000, 0.947284,0.052716, maf-5-some-pop 734 chr21 19556425 19556426 rs558314774 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19556443 19556444 rs181965797 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19556444 19556445 rs28488090 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.057734 0.159793 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 149.000000,4859.000000, 0.029752,0.970248, maf-5-some-pop 734 chr21 19556465 19556466 rs375318837 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556473 19556474 rs543826873 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19556498 19556499 rs536248772 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556503 19556504 rs540845289 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19556509 19556510 rs185111352 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19556510 19556511 rs189993054 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556524 19556525 rs115186424 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 734 chr21 19556548 19556549 rs181308708 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556568 19556569 rs115251787 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 734 chr21 19556577 19556578 rs560367877 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19556616 19556617 rs74809276 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19556766 19556769 rs764746106 0 + ATG ATG -/ATG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19556769 19556770 rs151014868 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19556778 19556779 rs779559041 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19556791 19556792 rs17002447 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,TISHKOFF, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 734 chr21 19556851 19556852 rs186505589 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556858 19556859 rs573785195 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19556922 19556923 rs113689865 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556946 19556947 rs570756737 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19556959 19556960 rs531778490 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19556962 19556963 rs2824693 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.475437 0.108066 intron exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1949.000000,3059.000000, 0.389177,0.610823, maf-5-some-pop 734 chr21 19556989 19556990 rs866823636 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19556992 19556993 rs568436597 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19556996 19556997 rs180749206 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 G,T, 4982.000000,26.000000, 0.994808,0.005192, 734 chr21 19557036 19557037 rs554585314 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19557044 19557045 rs8131052 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.191461 0.24305 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4471.000000,537.000000, 0.892772,0.107228, maf-5-some-pop,genotype-conflict 734 chr21 19557058 19557059 rs145440205 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19557094 19557095 rs763385058 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19557171 19557172 rs185145601 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19557194 19557195 rs747118693 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557209 19557210 rs768950047 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557224 19557225 rs34380498 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19557294 19557295 rs571515348 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19557309 19557310 rs551619475 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19557313 19557317 rs537636663 0 + TCTC TCTC -/TCTC genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 734 chr21 19557350 19557351 rs749004969 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557376 19557377 rs141115980 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 734 chr21 19557388 19557389 rs556363559 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19557409 19557410 rs574688589 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19557413 19557414 rs771459017 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19557415 19557416 rs541741975 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19557421 19557422 rs146969827 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19557439 19557440 rs147583013 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4893.000000,115.000000, 0.977037,0.022963, maf-5-some-pop 734 chr21 19557469 19557470 rs527446856 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19557487 19557488 rs1985687 0 - C C A/G genomic single unknown 0 0 intron exact 1 2 ABI,TSC-CSHL, 0 734 chr21 19557488 19557489 rs759406830 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557491 19557492 rs142552456 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 45.000000,4963.000000, 0.008986,0.991014, 734 chr21 19557493 19557494 rs771998959 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557501 19557502 rs564249992 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19557510 19557511 rs774937705 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557559 19557560 rs760230456 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557569 19557570 rs35233943 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 A, 2.000000, 1.000000, 734 chr21 19557571 19557572 rs71620016 0 + G G C/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 G, 2.000000, 1.000000, 734 chr21 19557573 19557574 rs71620017 0 + G G C/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 C, 2.000000, 1.000000, 734 chr21 19557585 19557586 rs531666608 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19557602 19557603 rs369329263 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19557635 19557636 rs112861043 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 2 BCM-HGSC-SUB,EVA_DECODE, 0 734 chr21 19557638 19557639 rs112151046 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 734 chr21 19557666 19557667 rs190742272 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19557669 19557670 rs75361969 0 - C C A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 A, 4.000000, 1.000000, 734 chr21 19557675 19557676 rs76298862 0 - T T -/A genomic deletion unknown 0 0 intron exact 1 1 BGI, 0 734 chr21 19557688 19557689 rs76437933 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19557697 19557698 rs77404215 0 - C C A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19557707 19557708 rs79884946 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19557713 19557714 rs79960256 0 - C C A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19557716 19557717 rs561931742 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19557728 19557729 rs76245397 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BGI, 0 734 chr21 19557735 19557736 rs78746968 0 - T T A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ENSEMBL,GMI, 1 A, 6.000000, 1.000000, 734 chr21 19557751 19557752 rs75229036 0 - G G C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19557752 19557753 rs78352633 0 - G G A/C genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ENSEMBL,GMI, 1 C, 2.000000, 1.000000, 734 chr21 19557801 19557802 rs143326614 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,EVA_DECODE,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 734 chr21 19557828 19557829 rs77947647 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 734 chr21 19557836 19557837 rs752759730 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19557858 19557859 rs763626875 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557866 19557867 rs753596917 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19557880 19557881 rs183903863 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19557886 19557887 rs760701150 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19557897 19557898 rs547621191 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19557899 19557900 rs148377165 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 734 chr21 19557934 19557935 rs371485517 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19558003 19558004 rs533565278 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558059 19558060 rs552158362 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558117 19558118 rs11910956 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.238171 0.24972 intron exact 1 19 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 692.000000,4316.000000, 0.138179,0.861821, maf-5-some-pop 734 chr21 19558128 19558129 rs537902782 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19558149 19558150 rs7279833 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.187369 0.242028 intron exact 1 20 1000GENOMES,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4484.000000,524.000000, 0.895367,0.104633, maf-5-some-pop 734 chr21 19558178 19558179 rs574522818 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19558187 19558188 rs867598251 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19558206 19558207 rs188652365 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19558236 19558237 rs553771348 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19558237 19558238 rs572263379 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558242 19558243 rs191749912 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19558268 19558269 rs564106535 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558269 19558270 rs576164086 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19558273 19558274 rs183210068 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19558309 19558310 rs561992324 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19558313 19558314 rs113230396 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 8 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4943.000000,65.000000, 0.987021,0.012979, 734 chr21 19558325 19558326 rs569584838 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 734 chr21 19558336 19558337 rs8131689 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.186421 0.24178 intron exact 1 20 1000GENOMES,AFFY,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4487.000000,521.000000, 0.895966,0.104034, maf-5-some-pop 734 chr21 19558373 19558374 rs559801761 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558383 19558384 rs751665760 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19558478 19558479 rs755125304 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19558483 19558484 rs9981337 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.499587 0.014371 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2576.000000,2432.000000, 0.514377,0.485623, maf-5-some-pop 734 chr21 19558486 19558487 rs572111448 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19558489 19558490 rs748456355 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19558495 19558496 rs73316212 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19558530 19558531 rs566473391 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19558546 19558547 rs570444471 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558582 19558583 rs141553375 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558597 19558598 rs9978579 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.054725 0.156101 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4867.000000,141.000000, 0.971845,0.028155, maf-5-some-pop 734 chr21 19558598 19558599 rs778700680 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19558650 19558651 rs568285073 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19558660 19558661 rs79762059 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 170.000000,4838.000000, 0.033946,0.966054, maf-5-some-pop 734 chr21 19558696 19558697 rs867524087 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19558698 19558699 rs553884844 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19558727 19558727 rs531568382 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.109108 0.206518 intron between 1 1 1000GENOMES, 2 -,A, 4718.000000,290.000000, 0.942093,0.057907, maf-5-some-pop 734 chr21 19558731 19558732 rs374503492 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19558736 19558737 rs12626865 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.191775 0.243125 intron exact 1 15 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF, 2 A,G, 4470.000000,538.000000, 0.892572,0.107428, maf-5-some-pop 734 chr21 19558737 19558738 rs79478545 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19558738 19558739 rs78037899 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19558738 19558738 rs34659673 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 734 chr21 19558758 19558759 rs539333254 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19558769 19558770 rs542945929 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19558790 19558791 rs187279101 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19558859 19558860 rs557759471 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19558860 19558861 rs2824694 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.475701 0.107512 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1952.000000,3056.000000, 0.389776,0.610224, maf-5-some-pop 734 chr21 19558875 19558876 rs543552735 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19558919 19558920 rs778310107 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19558951 19558952 rs555591007 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19558987 19558988 rs150479844 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 734 chr21 19559008 19559009 rs191852445 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19559057 19559058 rs2824695 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.219349 0.248114 intron exact 1 18 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4380.000000,628.000000, 0.874601,0.125399, maf-5-some-pop 734 chr21 19559067 19559068 rs76950342 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 734 chr21 19559132 19559133 rs183660464 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19559151 19559152 rs74770839 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043728 0.141251 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 112.000000,4896.000000, 0.022364,0.977636, maf-5-some-pop 734 chr21 19559161 19559162 rs531322829 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19559259 19559260 rs35471151 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.059235 0.161582 intron exact 1 11 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4855.000000,153.000000, 0.969449,0.030551, maf-5-some-pop 734 chr21 19559262 19559263 rs371358866 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19559274 19559275 rs766959555 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19559312 19559313 rs536461371 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19559313 19559314 rs528954830 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19559323 19559324 rs547311479 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19559339 19559340 rs138177662 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 18.000000,4990.000000, 0.003594,0.996406, 734 chr21 19559363 19559364 rs370862515 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19559378 19559379 rs752178400 0 + A A A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19559397 19559398 rs186823144 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19559459 19559460 rs772300650 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19559490 19559491 rs116904923 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19559509 19559510 rs55948467 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19559511 19559512 rs374275947 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19559516 19559517 rs112071815 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 A,C, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19559520 19559521 rs574068334 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19559544 19559545 rs548180213 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,A, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19559599 19559600 rs117670066 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19559628 19559629 rs867884192 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19559643 19559644 rs559779250 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19559646 19559647 rs553315997 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19559731 19559732 rs756316566 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19559765 19559766 rs777990009 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19559766 19559767 rs7275730 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.010725 0.072438 intron exact 1 9 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19559770 19559771 rs545754695 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19559813 19559814 rs753761608 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19559851 19559852 rs367584065 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19559878 19559879 rs556154025 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19559940 19559941 rs193205273 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19559954 19559955 rs543071980 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19560028 19560029 rs758260641 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560030 19560031 rs185734662 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19560077 19560078 rs9984966 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.202035 0.245356 intron exact 1 17 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 571.000000,4437.000000, 0.114018,0.885982, maf-5-some-pop 734 chr21 19560078 19560079 rs547467044 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560085 19560086 rs565580436 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560097 19560098 rs765164168 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19560115 19560116 rs532971469 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19560137 19560138 rs746891156 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560163 19560164 rs564941370 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19560190 19560191 rs370983592 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19560192 19560193 rs569954984 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560221 19560222 rs569639512 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19560222 19560223 rs531965974 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19560250 19560251 rs536915908 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19560258 19560259 rs555509114 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19560273 19560274 rs76330657 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.08836 0.190715 intron exact 1 9 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4776.000000,232.000000, 0.953674,0.046326, maf-5-some-pop 734 chr21 19560276 19560277 rs142587277 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19560288 19560289 rs553421042 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560305 19560306 rs552161873 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19560322 19560323 rs747635445 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560327 19560328 rs550475344 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560328 19560329 rs8131243 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.024454 0.107838 intron exact 1 4 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 62.000000,4946.000000, 0.012380,0.987620, maf-5-some-pop 734 chr21 19560357 19560358 rs376986343 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19560374 19560375 rs773037669 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560390 19560391 rs143991220 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19560426 19560427 rs112703484 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.074106 0.177655 intron exact 1 5 1000GENOMES,BUSHMAN,EVA-GONL,HAMMER_LAB,LUNTER, 2 -,T, 193.000000,4815.000000, 0.038538,0.961462, maf-5-some-pop 734 chr21 19560472 19560473 rs763405794 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560510 19560511 rs576023496 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19560526 19560527 rs543285195 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19560536 19560537 rs766906507 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560541 19560542 rs190191885 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19560544 19560545 rs573574264 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560569 19560570 rs774865615 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560577 19560578 rs540630421 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560620 19560621 rs374544673 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19560687 19560688 rs9647200 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.167158 0.235875 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BGI,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4547.000000,461.000000, 0.907947,0.092053, maf-5-some-pop 734 chr21 19560699 19560700 rs532838438 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19560702 19560703 rs529619454 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19560722 19560723 rs551180760 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19560758 19560759 rs767938028 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560766 19560767 rs563129819 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19560810 19560811 rs530739083 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560819 19560820 rs372698170 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,TISHKOFF, 0 734 chr21 19560822 19560823 rs763547153 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560827 19560828 rs752770054 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560837 19560838 rs112039960 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 5 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 734 chr21 19560845 19560846 rs142242312 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19560846 19560847 rs79148749 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BGI, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19560852 19560853 rs546630256 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19560863 19560864 rs571790104 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560887 19560888 rs2824696 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.232359 0.249377 intron exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 672.000000,4336.000000, 0.134185,0.865815, maf-5-some-pop 734 chr21 19560888 19560889 rs754122375 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560889 19560890 rs151221337 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19560891 19560892 rs139485883 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19560897 19560898 rs757487643 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19560902 19560903 rs144992592 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19560906 19560907 rs73893015 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4850.000000,158.000000, 0.968450,0.031549, maf-5-some-pop 734 chr21 19560938 19560939 rs1008555 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.193028 0.243422 intron exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 4466.000000,542.000000, 0.891773,0.108227, maf-5-some-pop 734 chr21 19560943 19560944 rs77189894 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.070042 0.173537 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4826.000000,182.000000, 0.963658,0.036342, maf-5-some-pop 734 chr21 19560948 19560949 rs1008556 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.479177 0.099889 intron exact 1 MixedObserved 21 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 3015.000000,1993.000000, 0.602037,0.397963, maf-5-some-pop,maf-5-all-pops 734 chr21 19560948 19560949 rs373200431 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 TISHKOFF, 0 734 chr21 19560954 19560955 rs147594462 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19560968 19560969 rs537707503 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19560970 19560971 rs747661243 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561003 19561004 rs769493895 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561039 19561040 rs9305851 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.266 0.249487 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 791.000000,4217.000000, 0.157947,0.842053, maf-5-some-pop 734 chr21 19561079 19561080 rs184420851 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19561087 19561088 rs188424632 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19561089 19561090 rs866549569 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19561098 19561099 rs548863308 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19561135 19561136 rs181238169 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19561149 19561150 rs748891019 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561151 19561152 rs528346254 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561157 19561158 rs142013608 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561164 19561165 rs150247420 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19561176 19561177 rs184903238 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561200 19561201 rs551086703 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561212 19561213 rs569214253 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19561237 19561238 rs188342515 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561250 19561251 rs554835000 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561267 19561268 rs759837819 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561281 19561282 rs768043715 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561325 19561326 rs2824697 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.328383 0.237395 intron exact 1 22 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3971.000000,1037.000000, 0.792931,0.207069, maf-5-some-pop,maf-5-all-pops 734 chr21 19561328 19561329 rs2824698 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.092696 0.194308 intron exact 1 10 1000GENOMES,BUSHMAN,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4764.000000,244.000000, 0.951278,0.048722, maf-5-some-pop 734 chr21 19561338 19561339 rs113601500 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19561354 19561355 rs2824699 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.387832 0.208572 intron exact 1 23 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1318.000000,3690.000000, 0.263179,0.736821, maf-5-some-pop 734 chr21 19561356 19561357 rs145833977 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19561370 19561371 rs529885900 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19561377 19561378 rs753919417 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561381 19561382 rs148979795 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561399 19561400 rs556649531 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19561424 19561425 rs76118630 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.068189 0.171594 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 177.000000,4831.000000, 0.035343,0.964657, maf-5-some-pop 734 chr21 19561429 19561430 rs76556190 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.072261 0.17581 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4820.000000,188.000000, 0.962460,0.037540, maf-5-some-pop 734 chr21 19561464 19561465 rs576288007 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19561477 19561478 rs73316215 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 734 chr21 19561488 19561489 rs781184081 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561503 19561504 rs544637481 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19561532 19561533 rs117516641 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19561533 19561534 rs182359088 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19561589 19561590 rs370038181 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19561596 19561597 rs138468474 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19561607 19561608 rs550945884 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19561618 19561619 rs187359242 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19561620 19561621 rs752634436 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561636 19561637 rs530102281 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19561637 19561638 rs9979739 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.266546 0.249452 intron exact 1 18 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 793.000000,4215.000000, 0.158347,0.841653, maf-5-some-pop 734 chr21 19561638 19561639 rs566926552 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19561647 19561651 rs144079516 0 + AAGT AAGT -/AAGT genomic deletion by-cluster,by-frequency,by-1000genomes 0.162253 0.234095 intron range 1 DuplicateObserved 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,AAGT, 446.000000,4562.000000, 0.089057,0.910942, maf-5-some-pop 734 chr21 19561647 19561647 rs767562657 0 + - - -/AAGT genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 734 chr21 19561667 19561668 rs534270957 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19561675 19561676 rs777349118 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561681 19561682 rs748835643 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561683 19561684 rs112332749 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 5 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4963.000000,45.000000, 0.991014,0.008986, 734 chr21 19561703 19561704 rs570770859 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19561711 19561712 rs9977011 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.265727 0.249505 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4218.000000,790.000000, 0.842252,0.157748, maf-5-some-pop,maf-5-all-pops 734 chr21 19561716 19561717 rs778477246 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561717 19561718 rs114122202 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 734 chr21 19561721 19561722 rs765109282 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19561732 19561733 rs78351240 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19561759 19561760 rs542343531 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19561821 19561822 rs75071497 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045634 0.143994 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 117.000000,4891.000000, 0.023363,0.976637, maf-5-some-pop 734 chr21 19561898 19561899 rs572942510 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19561910 19561911 rs551882923 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19561920 19561921 rs773178550 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19561931 19561932 rs369275300 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19561942 19561943 rs9976613 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 94.000000,4914.000000, 0.018770,0.981230, 734 chr21 19561946 19561954 rs755355498 0 + TTTTTTTT TTTTTTTT -/TTTTTTTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561952 19561954 rs766247358 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19561968 19561969 rs35604998 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.17654 0.238964 intron exact 1 4 1000GENOMES,ABI,HUMANGENOME_JCVI,PJP, 2 -,T, 4518.000000,490.000000, 0.902157,0.097843, maf-5-some-pop 734 chr21 19561972 19561973 rs565697587 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19561982 19561983 rs766151624 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19562034 19562035 rs532418138 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19562036 19562037 rs138868596 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 734 chr21 19562043 19562044 rs562721891 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19562055 19562056 rs191746077 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19562058 19562059 rs868554106 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19562068 19562069 rs183316053 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19562100 19562101 rs544029017 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19562103 19562104 rs772381003 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562114 19562115 rs527892389 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19562140 19562141 rs552308597 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19562143 19562144 rs186155358 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19562182 19562183 rs79056821 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 4892.000000,116.000000, 0.976837,0.023163, maf-5-some-pop 734 chr21 19562187 19562188 rs775940268 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562199 19562200 rs190081132 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19562217 19562218 rs796606575 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 734 chr21 19562280 19562281 rs761024754 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562307 19562308 rs769182011 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562316 19562317 rs73893016 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.097727 0.198275 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 258.000000,4750.000000, 0.051518,0.948482, maf-5-some-pop 734 chr21 19562343 19562344 rs568737945 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19562351 19562352 rs536394369 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19562357 19562358 rs554377514 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19562391 19562393 rs200196653 0 + TA TA -/TA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 2 1000GENOMES,GMI, 2 -,TA, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19562411 19562412 rs150848936 0 + T T A/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,T, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19562477 19562478 rs533998802 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19562479 19562480 rs761931213 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562493 19562494 rs2824700 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.453331 0.145452 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1739.000000,3269.000000, 0.347244,0.652756, maf-5-some-pop,genotype-conflict 734 chr21 19562505 19562506 rs754532498 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19562631 19562632 rs182680656 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19562635 19562636 rs546532623 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19562650 19562651 rs796583220 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19562700 19562701 rs186770537 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,WARNICH_LAB, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19562727 19562728 rs562944717 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19562731 19562732 rs567838170 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19562733 19562734 rs138616221 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19562755 19562756 rs76770399 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19562766 19562767 rs114597299 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19562768 19562769 rs527753308 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19562814 19562815 rs750676745 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562824 19562825 rs759360819 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562834 19562835 rs144643819 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19562836 19562837 rs767158710 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562846 19562847 rs552370134 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19562901 19562902 rs59156989 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 734 chr21 19562931 19562932 rs756071495 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19562940 19562941 rs192476146 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19562941 19562942 rs2824701 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.18989 0.242666 intron exact 1 17 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4476.000000,532.000000, 0.893770,0.106230, maf-5-some-pop,genotype-conflict 734 chr21 19562964 19562965 rs73316217 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 47.000000,4961.000000, 0.009385,0.990615, 734 chr21 19563029 19563030 rs568696093 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19563032 19563033 rs570248721 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19563034 19563035 rs539344881 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19563035 19563036 rs2824702 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.173643 0.238054 intron exact 1 21 1000GENOMES,AFFY,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4527.000000,481.000000, 0.903954,0.096046, maf-5-some-pop 734 chr21 19563058 19563059 rs183985704 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 34.000000,4974.000000, 0.006789,0.993211, 734 chr21 19563061 19563062 rs535037863 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19563065 19563065 rs35448260 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19563067 19563068 rs533856268 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19563077 19563078 rs35447390 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19563096 19563097 rs564913535 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19563154 19563155 rs577106179 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19563181 19563182 rs188673415 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19563193 19563194 rs771764707 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19563217 19563218 rs538177997 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19563243 19563244 rs17698124 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.06223 0.165053 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 161.000000,4847.000000, 0.032149,0.967851, maf-5-some-pop 734 chr21 19563276 19563277 rs574630848 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19563289 19563291 rs538494587 0 + AG AG -/AG genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 1 1000GENOMES, 2 -,AG, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19563292 19563293 rs541883060 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19563314 19563315 rs747397418 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19563332 19563333 rs560083048 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19563352 19563353 rs193270734 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19563388 19563389 rs545872905 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19563395 19563396 rs564386785 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19563424 19563425 rs9647082 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.481703 0.093881 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2025.000000,2983.000000, 0.404353,0.595647, maf-5-some-pop,maf-5-all-pops,genotype-conflict 734 chr21 19563434 19563435 rs777164294 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19563458 19563459 rs550302485 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19563493 19563494 rs543243792 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19563525 19563526 rs527775739 0 + C C A/G genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 734 chr21 19563532 19563533 rs9974741 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.220544 0.248259 intron exact 1 18 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 632.000000,4376.000000, 0.126198,0.873802, maf-5-some-pop,maf-5-all-pops 734 chr21 19563597 19563598 rs577041663 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19563661 19563662 rs529555598 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19563685 19563686 rs546116237 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19563687 19563688 rs374837731 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19563709 19563710 rs769821464 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19563713 19563714 rs748200948 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19563730 19563731 rs113685034 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 6 COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19563761 19563762 rs566450835 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19563782 19563783 rs184208685 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19563785 19563786 rs139736210 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19563811 19563812 rs570524373 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19563831 19563832 rs537650548 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19563837 19563838 rs188960331 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19563874 19563875 rs191670189 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19563875 19563876 rs766651330 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19563882 19563883 rs775094294 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19563929 19563929 rs200922156 0 + - - -/TAA genomic insertion unknown 0 0 intron between 1 1 GMI, 0 734 chr21 19563960 19563961 rs547788244 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19563962 19563963 rs7283834 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.137527 0.223271 intron exact 1 15 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 372.000000,4636.000000, 0.074281,0.925719, maf-5-some-pop 734 chr21 19563965 19563966 rs553778057 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19563988 19563989 rs764090444 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19564017 19564018 rs753887867 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19564043 19564044 rs572106196 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19564044 19564045 rs73893017 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 734 chr21 19564097 19564098 rs184133879 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19564117 19564118 rs73893018 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.093777 0.195178 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 247.000000,4761.000000, 0.049321,0.950679, maf-5-some-pop 734 chr21 19564125 19564126 rs189399616 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19564148 19564149 rs77965864 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.068931 0.172377 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4829.000000,179.000000, 0.964257,0.035743, maf-5-some-pop 734 chr21 19564181 19564182 rs529585989 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19564267 19564268 rs180987459 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19564276 19564277 rs773954368 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19564293 19564294 rs79038972 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.046775 0.145601 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4888.000000,120.000000, 0.976038,0.023962, maf-5-some-pop 734 chr21 19564300 19564301 rs8133371 0 + G G A/G genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WI_SSAHASNP, 1 G, 414.000000, 1.000000, 734 chr21 19564352 19564353 rs73893019 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 67.000000,4941.000000, 0.013379,0.986621, 734 chr21 19564380 19564381 rs550081406 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19564386 19564387 rs570586905 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19564401 19564402 rs186168159 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19564417 19564418 rs779806793 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19564426 19564427 rs747344433 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19564443 19564444 rs531403224 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19564450 19564451 rs190244183 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19564453 19564454 rs145031544 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19564459 19564460 rs767233520 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19564471 19564472 rs535430762 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19564522 19564523 rs781654163 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19564540 19564541 rs752447832 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19564575 19564576 rs538873704 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19564584 19564585 rs73893020 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 95.000000,4913.000000, 0.018970,0.981030, maf-5-some-pop 734 chr21 19564600 19564601 rs565598695 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19564604 19564605 rs117785339 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19564605 19564606 rs572167789 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19564616 19564617 rs181950168 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19564621 19564621 rs552806631 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 734 chr21 19564644 19564645 rs760231840 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19564746 19564747 rs576492920 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19564764 19564765 rs773126054 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19564773 19564774 rs528061684 0 + G G C/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 734 chr21 19564784 19564785 rs185906539 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19564792 19564793 rs73316218 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.239037 0.24976 intron exact 1 16 1000GENOMES,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4313.000000,695.000000, 0.861222,0.138778, maf-5-some-pop,maf-5-all-pops 734 chr21 19564793 19564794 rs574165541 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19564805 19564806 rs534975022 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19564842 19564843 rs541595899 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19564878 19564879 rs147129126 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19564881 19564882 rs555044584 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19564910 19564911 rs73893021 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 64.000000,4944.000000, 0.012780,0.987220, maf-5-some-pop 734 chr21 19564930 19564931 rs114481995 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 95.000000,4913.000000, 0.018970,0.981030, maf-5-some-pop 734 chr21 19564983 19564984 rs564095498 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565004 19565005 rs190812651 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565076 19565077 rs182629423 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565088 19565089 rs185826577 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 734 chr21 19565126 19565127 rs17451340 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.348794 0.229651 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 G,T, 3881.000000,1127.000000, 0.774960,0.225040, maf-5-some-pop,maf-5-all-pops 734 chr21 19565137 19565138 rs760540200 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19565186 19565191 rs558859437 0 + GAAAA GAAAA -/GAAAA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,GAAAA, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19565208 19565209 rs34607561 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.137527 0.223271 intron exact 1 10 1000GENOMES,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,T, 372.000000,4636.000000, 0.074281,0.925719, maf-5-some-pop 734 chr21 19565209 19565210 rs867379344 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19565210 19565211 rs397867147 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19565229 19565230 rs73893022 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.173965 0.238157 intron exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4526.000000,482.000000, 0.903754,0.096246, maf-5-some-pop 734 chr21 19565231 19565232 rs565653381 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19565243 19565244 rs79415001 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,T, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 734 chr21 19565254 19565255 rs761619512 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19565313 19565314 rs190936654 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19565339 19565340 rs751820648 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19565366 19565367 rs369169815 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19565431 19565432 rs182440766 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565440 19565441 rs576937399 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19565444 19565445 rs765247002 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19565483 19565484 rs142137096 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19565502 19565503 rs555837447 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565535 19565538 rs755385093 0 + ATT ATT -/ATT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19565544 19565545 rs781357256 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19565583 19565584 rs749879743 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19565603 19565604 rs187910631 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19565639 19565640 rs535255747 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19565651 19565652 rs193013728 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19565655 19565656 rs75025755 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 4895.000000,113.000000, 0.977436,0.022564, maf-5-some-pop 734 chr21 19565692 19565693 rs541155645 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19565713 19565714 rs183452136 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19565736 19565737 rs563972964 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19565740 19565741 rs575981424 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565747 19565748 rs113078007 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 9 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 734 chr21 19565764 19565765 rs541418965 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565782 19565783 rs187339550 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19565783 19565784 rs560654255 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19565786 19565787 rs547224493 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19565793 19565794 rs559098834 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19565820 19565821 rs73316219 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.219947 0.248187 intron exact 1 13 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4378.000000,630.000000, 0.874201,0.125799, maf-5-some-pop 734 chr21 19565837 19565838 rs781467852 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19565847 19565848 rs370356874 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19565853 19565853 rs544182458 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,C, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19565854 19565855 rs569807339 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19565857 19565858 rs150026191 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,G, 4964.000000,44.000000, 0.991214,0.008786, 734 chr21 19565895 19565896 rs146642826 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19565966 19565967 rs374979495 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19565969 19565970 rs529433102 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19565996 19565997 rs567766721 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566013 19566014 rs78818263 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19566020 19566021 rs535107948 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19566020 19566020 rs112079583 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved,SingleAlleleFreq 1 BUSHMAN, 1 T, 2.000000, 1.000000, 734 chr21 19566021 19566022 rs553633626 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566022 19566023 rs141382022 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_GENOME_DK,WEILL_CORNELL_DGM, 0 734 chr21 19566023 19566024 rs113133271 0 + A A A/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,BUSHMAN,EVA_GENOME_DK,GMI, 2 A,T, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19566024 19566025 rs539383233 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19566026 19566027 rs557643985 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566027 19566028 rs2026858 0 + T T A/T genomic single by-cluster,by-2hit-2allele 0 0 intron exact 1 3 GMI,TSC-CSHL,WEILL_CORNELL_DGM, 0 734 chr21 19566028 19566029 rs200523062 0 + A A A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,GMI,WEILL_CORNELL_DGM, 0 734 chr21 19566029 19566029 rs554616161 0 + - - -/AAAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.093057 0.194599 intron between 1 2 1000GENOMES,SSMP, 2 -,AAAT, 4763.000000,245.000000, 0.951078,0.048922, maf-5-some-pop 734 chr21 19566032 19566033 rs2026859 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 TSC-CSHL,WEILL_CORNELL_DGM, 0 734 chr21 19566034 19566035 rs575801800 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19566056 19566057 rs192237235 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19566064 19566065 rs532692450 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19566064 19566064 rs199894126 0 + - - -/TAAA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 GMI, 0 734 chr21 19566074 19566075 rs796230438 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 734 chr21 19566104 19566105 rs376441416 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19566148 19566149 rs756525358 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566160 19566161 rs573429163 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566172 19566173 rs144999746 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19566184 19566185 rs28470511 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 3 1000GENOMES,ILLUMINA,SSAHASNP, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 734 chr21 19566185 19566186 rs549576932 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19566193 19566194 rs759234469 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19566203 19566204 rs8126873 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.474903 0.109173 intron exact 1 24 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3065.000000,1943.000000, 0.612021,0.387979, maf-5-some-pop,maf-5-all-pops 734 chr21 19566204 19566205 rs566368666 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566215 19566216 rs148928572 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19566218 19566219 rs535388138 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19566222 19566223 rs548580960 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566223 19566224 rs568501412 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19566239 19566240 rs143724770 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19566240 19566241 rs183905091 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566249 19566250 rs28458874 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19566298 19566299 rs537068651 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19566300 19566301 rs73893023 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.103794 0.20279 intron exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4733.000000,275.000000, 0.945088,0.054912, maf-5-some-pop 734 chr21 19566335 19566336 rs539239643 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566371 19566372 rs746024139 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566379 19566380 rs557245558 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19566381 19566382 rs772457497 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566401 19566402 rs569568196 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19566402 19566403 rs373066767 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566422 19566423 rs555387318 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566422 19566422 rs59741336 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.21725 0.247846 intron between 1 MixedObserved 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,A, 4387.000000,621.000000, 0.875998,0.124002, maf-5-some-pop,maf-5-all-pops 734 chr21 19566426 19566426 rs397955808 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 734 chr21 19566434 19566435 rs573291074 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566450 19566451 rs2824703 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.491629 0.064153 intron exact 1 28 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2828.000000,2180.000000, 0.564696,0.435304, maf-5-some-pop 734 chr21 19566476 19566477 rs148109617 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566486 19566487 rs769588125 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566492 19566493 rs773268799 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566514 19566515 rs577287542 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566542 19566543 rs762359225 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566585 19566586 rs17002457 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.069301 0.172766 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 180.000000,4828.000000, 0.035942,0.964058, maf-5-some-pop 734 chr21 19566618 19566619 rs563326213 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566631 19566631 rs763841297 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19566647 19566648 rs530864458 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566678 19566679 rs868076061 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19566688 19566689 rs11702723 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.077784 0.181223 intron exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 203.000000,4805.000000, 0.040535,0.959465, maf-5-some-pop 734 chr21 19566690 19566691 rs759147493 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566699 19566700 rs767179529 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566708 19566709 rs561307440 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566712 19566713 rs187874360 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19566736 19566737 rs528506184 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566738 19566739 rs375531184 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 734 chr21 19566763 19566764 rs531998502 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19566776 19566777 rs753034095 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19566782 19566783 rs546968907 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566785 19566786 rs571791983 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19566803 19566804 rs532483055 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566821 19566822 rs192941399 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19566822 19566823 rs141269871 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 734 chr21 19566836 19566837 rs536992996 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19566840 19566841 rs554850207 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566847 19566848 rs566774448 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19566883 19566884 rs534336882 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19566891 19566892 rs572777413 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19566920 19566921 rs35092206 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.483053 0.090479 intron exact 1 4 1000GENOMES,EVA_GENOME_DK,GMI,SSMP, 2 -,A, 2043.000000,2965.000000, 0.407947,0.592053, maf-5-some-pop,maf-5-all-pops 734 chr21 19566921 19566922 rs552616834 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19566930 19566931 rs577354926 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566931 19566932 rs538335364 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19566932 19566933 rs557170339 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19566935 19566936 rs397867676 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19566942 19566943 rs73893024 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.187369 0.242028 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4484.000000,524.000000, 0.895367,0.104633, maf-5-some-pop 734 chr21 19567008 19567009 rs542766883 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567013 19567014 rs73316222 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,JMKIDD_LAB, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 734 chr21 19567051 19567052 rs573148623 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19567058 19567059 rs540647241 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567059 19567060 rs565256454 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567060 19567061 rs73316223 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4945.000000,63.000000, 0.987420,0.012580, 734 chr21 19567073 19567074 rs184140855 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567084 19567085 rs189466272 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19567099 19567100 rs530231922 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567110 19567111 rs138209620 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19567164 19567165 rs370446437 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19567182 19567183 rs2897336 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074106 0.177655 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 193.000000,4815.000000, 0.038538,0.961462, maf-5-some-pop 734 chr21 19567193 19567194 rs534208487 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19567200 19567201 rs745971627 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567240 19567241 rs772406093 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567245 19567246 rs779728522 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 734 chr21 19567297 19567299 rs373223195 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19567306 19567307 rs546218814 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567326 19567327 rs571154604 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567334 19567339 rs753071058 0 + AATAC AATAC -/AATAC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19567343 19567344 rs149949905 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567344 19567345 rs111845276 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.059235 0.161582 intron exact 1 4 1000GENOMES,BL,BUSHMAN,WEILL_CORNELL_DGM, 2 A,T, 4855.000000,153.000000, 0.969449,0.030551, maf-5-some-pop 734 chr21 19567344 19567344 rs56764991 0 + - - -/TTT genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 734 chr21 19567345 19567346 rs141618815 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BL, 0 734 chr21 19567345 19567349 rs200347665 0 + TTAT TTAT -/TTAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.499104 0.021147 intron range 1 MixedObserved 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,PJP,SSMP, 2 -,TTAT, 2610.000000,2398.000000, 0.521166,0.478834, maf-5-some-pop,maf-5-all-pops 734 chr21 19567345 19567345 rs752194354 0 + - - -/TTAT genomic insertion unknown 0 0 intron between 1 1 DDI, 0 734 chr21 19567346 19567347 rs138472357 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567349 19567349 rs759441389 0 + - - -/TTAT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567354 19567355 rs143659233 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567355 19567356 rs148541103 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,BL, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567356 19567359 rs758305906 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567357 19567359 rs752194004 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567358 19567359 rs147815100 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567359 19567360 rs137975424 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567362 19567363 rs138528229 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567363 19567364 rs146156989 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567366 19567367 rs150886844 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567367 19567368 rs144208711 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567370 19567371 rs139805532 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567371 19567372 rs140750188 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567374 19567375 rs140245855 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567375 19567376 rs149441466 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567378 19567379 rs141875014 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567379 19567380 rs142986517 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567382 19567383 rs149957859 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567383 19567384 rs142098100 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BL, 0 734 chr21 19567383 19567387 rs536517027 0 + ATTT ATTT -/ATTT genomic deletion unknown 0 0 intron range 1 MixedObserved 2 HGSV,PJP, 0 734 chr21 19567386 19567387 rs145231739 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567387 19567387 rs56855621 0 + - - -/ATTT/T genomic insertion by-cluster 0 0 intron between 1 2 GMI,HGSV, 0 734 chr21 19567389 19567390 rs150487247 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567390 19567391 rs146846825 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567391 19567392 rs147444577 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567392 19567393 rs139644406 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567393 19567394 rs146413165 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567394 19567395 rs149038882 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567395 19567396 rs141121349 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567396 19567397 rs139249439 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567398 19567399 rs141604792 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 4 BL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567399 19567400 rs149556163 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567400 19567401 rs141900840 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567401 19567402 rs139323550 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567402 19567403 rs150530514 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,BL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19567403 19567404 rs145485728 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567404 19567405 rs141772251 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567405 19567406 rs148109319 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567406 19567407 rs141012409 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567407 19567408 rs138152051 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567408 19567409 rs141206422 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,BL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19567409 19567410 rs150033231 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 5 1000GENOMES,BL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 734 chr21 19567410 19567411 rs113407672 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19567411 19567412 rs146779181 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567413 19567414 rs142713159 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567414 19567415 rs138595934 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567415 19567416 rs143400513 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567416 19567417 rs140187660 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567417 19567418 rs139906231 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567418 19567419 rs145637948 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19567431 19567432 rs181908057 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567446 19567447 rs762878266 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567451 19567452 rs564166369 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567455 19567456 rs565320091 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567489 19567490 rs536923721 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19567538 19567539 rs773798081 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567545 19567546 rs759096109 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567555 19567556 rs767124590 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567561 19567561 rs746833700 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567564 19567565 rs546994459 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19567591 19567592 rs544546050 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567592 19567593 rs752459545 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567602 19567603 rs749282826 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19567606 19567607 rs760932301 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567626 19567627 rs562861200 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567627 19567628 rs562995676 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567638 19567639 rs548407071 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567659 19567660 rs560293623 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567660 19567661 rs764454963 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567672 19567673 rs528026080 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567697 19567698 rs112679629 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19567718 19567719 rs754187071 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567724 19567725 rs4635606 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.472616 0.113763 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1918.000000,3090.000000, 0.382987,0.617013, maf-5-some-pop,maf-5-all-pops 734 chr21 19567779 19567780 rs185062578 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567781 19567782 rs149661691 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 7 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 734 chr21 19567792 19567793 rs550521958 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19567807 19567808 rs568875966 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567829 19567830 rs750503795 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567838 19567839 rs375632729 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19567856 19567857 rs144502614 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19567883 19567884 rs868597064 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19567921 19567922 rs189004633 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19567924 19567925 rs758622308 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19567925 19567926 rs148422442 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19567936 19567937 rs533934520 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19567942 19567943 rs568969808 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19567956 19567957 rs115896003 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 31.000000,4977.000000, 0.006190,0.993810, 734 chr21 19567963 19567964 rs368309106 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568006 19568007 rs73893026 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 244.000000,4764.000000, 0.048722,0.951278, maf-5-some-pop 734 chr21 19568032 19568033 rs181682653 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19568034 19568035 rs560018108 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19568078 19568079 rs146595245 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19568085 19568086 rs376790203 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19568100 19568101 rs369851535 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19568110 19568111 rs114542280 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19568116 19568117 rs548866578 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19568122 19568123 rs560357598 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568141 19568141 rs532705275 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19568184 19568185 rs527892409 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19568202 19568203 rs777581502 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19568214 19568215 rs187037539 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19568220 19568221 rs745868871 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19568283 19568284 rs749055981 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19568285 19568286 rs141346334 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568291 19568292 rs143951666 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19568292 19568293 rs770829608 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19568345 19568346 rs796560658 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19568363 19568364 rs568794992 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19568366 19568367 rs374347018 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19568371 19568371 rs146980152 0 + - - -/AGAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron between 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,AGAA, 4951.000000,57.000000, 0.988618,0.011382, 734 chr21 19568379 19568380 rs57502590 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 2 1000GENOMES,HGSV, 0 734 chr21 19568389 19568390 rs568830502 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19568390 19568391 rs574559753 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19568405 19568406 rs532043554 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19568406 19568407 rs113847148 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19568457 19568458 rs80259301 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 734 chr21 19568484 19568485 rs548314437 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568485 19568486 rs2824704 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.44858 0.151875 intron exact 1 30 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3307.000000,1701.000000, 0.660343,0.339657, maf-5-some-pop,maf-5-all-pops,genotype-conflict 734 chr21 19568497 19568498 rs771626972 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19568519 19568520 rs2183557 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498253 0.029501 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2652.000000,2356.000000, 0.529553,0.470447, maf-5-some-pop,maf-5-all-pops 734 chr21 19568524 19568525 rs760337331 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19568617 19568618 rs760576841 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19568650 19568651 rs2150383 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495745 0.045929 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2273.000000,2735.000000, 0.453874,0.546126, maf-5-some-pop,maf-5-all-pops 734 chr21 19568659 19568660 rs570686959 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19568678 19568679 rs538120142 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19568679 19568680 rs539575054 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19568738 19568739 rs762308806 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19568766 19568767 rs140463844 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568767 19568768 rs574484660 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19568776 19568777 rs77320795 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 734 chr21 19568777 19568778 rs553855259 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568793 19568794 rs552730881 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19568850 19568851 rs751031797 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19568868 19568869 rs572179578 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568893 19568894 rs546097246 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19568897 19568898 rs191025647 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19568910 19568911 rs150393844 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.046775 0.145601 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4888.000000,120.000000, 0.976038,0.023962, maf-5-some-pop 734 chr21 19568931 19568932 rs73202953 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036066 0.129354 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4916.000000,92.000000, 0.981629,0.018371, 734 chr21 19568933 19568934 rs555194334 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19568966 19568967 rs73316226 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19568987 19568988 rs761198209 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19568997 19568998 rs764864519 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19568998 19568999 rs766412319 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569077 19569078 rs181393561 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19569148 19569149 rs61572693 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.204189 0.245767 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 578.000000,4430.000000, 0.115415,0.884585, maf-5-some-pop 734 chr21 19569150 19569151 rs566585043 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569212 19569213 rs76005936 0 + T T G/T genomic single by-1000genomes 0.016806 0.090113 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,117.000000, 0.008475,0.991525, 734 chr21 19569220 19569221 rs11700439 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.009143 0.066992 intron exact 1 8 1000GENOMES,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 734 chr21 19569256 19569257 rs9976703 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.053216 0.154195 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 137.000000,4871.000000, 0.027356,0.972644, maf-5-some-pop 734 chr21 19569272 19569273 rs570620425 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569274 19569275 rs537793806 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19569277 19569278 rs185953987 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569288 19569289 rs757109956 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569293 19569294 rs567970245 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19569299 19569300 rs191191842 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19569303 19569304 rs553716402 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569304 19569305 rs764204123 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19569311 19569312 rs572241299 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569353 19569354 rs772031421 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569374 19569375 rs562794414 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 -,A, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19569378 19569379 rs775017954 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569389 19569390 rs149154040 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 4 1000GENOMES,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 41.000000,4967.000000, 0.008187,0.991813, 734 chr21 19569397 19569398 rs558107965 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19569416 19569417 rs146526921 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19569419 19569420 rs370336115 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 TISHKOFF, 0 734 chr21 19569419 19569420 rs543604906 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19569456 19569457 rs562389651 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569458 19569459 rs183182653 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19569478 19569479 rs187871883 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19569483 19569484 rs371170761 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19569506 19569507 rs138156606 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19569512 19569513 rs560166902 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569528 19569529 rs527428122 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569546 19569547 rs190981438 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 734 chr21 19569559 19569560 rs762257938 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569595 19569596 rs563987135 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19569597 19569598 rs531539489 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569608 19569609 rs551354861 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19569609 19569610 rs143603866 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569623 19569624 rs757280906 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19569631 19569631 rs746209991 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19569643 19569644 rs146223426 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 167.000000,4841.000000, 0.033347,0.966653, maf-5-some-pop 734 chr21 19569686 19569687 rs372346789 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19569696 19569697 rs148263204 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569712 19569713 rs8134103 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.365646 0.221644 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1206.000000,3802.000000, 0.240815,0.759185, maf-5-some-pop 734 chr21 19569722 19569723 rs766815176 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569729 19569730 rs141160851 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4898.000000,110.000000, 0.978035,0.021965, maf-5-some-pop 734 chr21 19569731 19569732 rs150707285 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19569732 19569733 rs182760700 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19569772 19569773 rs188692370 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569785 19569786 rs571333052 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19569786 19569787 rs537667342 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569790 19569791 rs796232448 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19569826 19569827 rs555977870 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569840 19569841 rs117625971 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN,WEILL_CORNELL_DGM, 2 G,T, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19569842 19569843 rs367711521 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569856 19569857 rs560230059 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.002394 0.034528 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 C,G,T, 5002.000000,4.000000,2.000000, 0.998802,0.000799,0.000399, 734 chr21 19569857 19569858 rs756341720 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569860 19569861 rs533169556 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19569864 19569865 rs564232270 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19569872 19569873 rs192535989 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19569921 19569922 rs114134479 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 734 chr21 19569924 19569925 rs750243366 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19569943 19569944 rs117872773 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.078518 0.181917 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4803.000000,205.000000, 0.959065,0.040934, maf-5-some-pop 734 chr21 19569962 19569963 rs139099589 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19569984 19569985 rs185070158 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19570012 19570013 rs566626588 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570049 19570050 rs565590644 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19570084 19570085 rs769342132 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19570165 19570166 rs768113652 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570172 19570173 rs533384690 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19570196 19570197 rs551451877 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19570214 19570215 rs9979829 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.39214 0.20566 intron exact 1 31 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3667.000000,1341.000000, 0.732228,0.267772, maf-5-some-pop 734 chr21 19570284 19570285 rs537125318 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000816 0.020182 intron exact 1 1 1000GENOMES, 2 A,G, 4898.000000,2.000000, 0.999592,0.000408, 734 chr21 19570285 19570286 rs138082316 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.042217 0.139019 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,T, 108.000000,4898.000000, 0.021574,0.978426, 734 chr21 19570324 19570325 rs78465640 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.067074 0.170406 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 174.000000,4834.000000, 0.034744,0.965256, maf-5-some-pop 734 chr21 19570345 19570346 rs773659669 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570394 19570398 rs762483661 0 + TATC TATC -/TATC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19570435 19570436 rs78034678 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 4 1000GENOMES,EVA-GONL,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 62.000000,4946.000000, 0.012380,0.987620, maf-5-some-pop 734 chr21 19570457 19570458 rs76879453 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 734 chr21 19570468 19570469 rs553709120 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19570488 19570490 rs762505046 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570533 19570534 rs73202958 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4910.000000,98.000000, 0.980431,0.019569, 734 chr21 19570606 19570607 rs8133890 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.316485 0.240998 intron exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4021.000000,987.000000, 0.802915,0.197085, maf-5-some-pop,maf-5-all-pops 734 chr21 19570607 19570608 rs759647058 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570655 19570656 rs767436742 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570674 19570675 rs142499857 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19570727 19570728 rs761001050 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19570751 19570752 rs752776578 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570754 19570755 rs760839791 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570803 19570804 rs533792664 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19570836 19570837 rs73316227 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 734 chr21 19570891 19570892 rs764349939 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19570930 19570931 rs576115304 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19570975 19570976 rs543111752 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571059 19571060 rs561589503 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571076 19571077 rs529056466 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571095 19571096 rs866091131 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19571117 19571118 rs187560054 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571140 19571141 rs553858482 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571163 19571164 rs191551427 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19571169 19571170 rs573791927 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19571189 19571190 rs140144676 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 59.000000,4949.000000, 0.011781,0.988219, 734 chr21 19571218 19571222 rs774932894 0 + AATT AATT -/AATT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19571225 19571226 rs184820700 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571240 19571241 rs368770754 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19571270 19571271 rs567716844 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19571291 19571292 rs73316228 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,COMPLETE_GENOMICS,DDI, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19571352 19571353 rs556167859 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19571354 19571358 rs759831656 0 + TTGA TTGA -/TTGA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19571364 19571365 rs181956791 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19571417 19571418 rs372445522 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19571423 19571424 rs538942840 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571463 19571464 rs576123792 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19571478 19571479 rs557782374 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19571497 19571498 rs374514171 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19571533 19571534 rs184991499 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19571556 19571557 rs2824705 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.473543 0.111932 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3080.000000,1928.000000, 0.615016,0.384984, maf-5-some-pop,maf-5-all-pops 734 chr21 19571570 19571571 rs190433519 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19571577 19571578 rs751398893 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19571585 19571586 rs750479280 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19571658 19571659 rs181252465 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19571659 19571660 rs540860952 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19571698 19571699 rs143783599 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 8 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 734 chr21 19571700 19571701 rs575876088 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19571745 19571746 rs544962761 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19571752 19571753 rs6517801 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.283947 0.247685 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 858.000000,4150.000000, 0.171326,0.828674, maf-5-some-pop 734 chr21 19571807 19571808 rs186708423 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19571832 19571833 rs530932271 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19571871 19571872 rs564822335 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19571879 19571880 rs769546447 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19571880 19571881 rs189629894 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19571908 19571909 rs777604753 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19571939 19571940 rs749656299 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19571940 19571941 rs146883121 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19571979 19571980 rs180745196 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19571982 19571983 rs6517802 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.333261 0.235728 intron exact 1 26 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 1058.000000,3950.000000, 0.211262,0.788738, maf-5-some-pop 734 chr21 19572000 19572000 rs752933015 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572002 19572003 rs759892737 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572004 19572005 rs571744811 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19572009 19572010 rs539361301 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19572044 19572045 rs370584246 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19572062 19572063 rs772663737 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572100 19572101 rs373101249 0 + T T A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 734 chr21 19572122 19572123 rs148573609 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19572177 19572178 rs760786327 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572201 19572202 rs866222841 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19572217 19572218 rs569504698 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19572220 19572221 rs536662886 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19572226 19572227 rs554926271 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19572231 19572232 rs573429492 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19572328 19572329 rs534406804 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19572373 19572374 rs553171539 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19572382 19572383 rs142805407 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19572396 19572397 rs546598524 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572397 19572398 rs769445832 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19572405 19572406 rs545139963 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19572427 19572428 rs185143405 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19572441 19572441 rs571111051 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,SSIP, 0 734 chr21 19572565 19572566 rs575577697 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19572582 19572583 rs543080733 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19572584 19572586 rs535027135 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 734 chr21 19572609 19572610 rs561248422 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19572620 19572621 rs766024952 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572628 19572629 rs375688778 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19572637 19572638 rs546771515 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19572739 19572740 rs190730086 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19572740 19572740 rs35771994 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19572749 19572750 rs184062129 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19572865 19572866 rs552466565 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19572885 19572886 rs151046919 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19572916 19572917 rs534012119 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19572931 19572932 rs751404430 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572945 19572946 rs754824945 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572956 19572957 rs569241825 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19572986 19572987 rs767609555 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19572989 19572990 rs752219249 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19573040 19573041 rs569243699 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19573047 19573048 rs748777578 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19573081 19573082 rs536523498 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19573100 19573101 rs755748291 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19573105 19573106 rs56869001 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 170.000000,4838.000000, 0.033946,0.966054, maf-5-some-pop 734 chr21 19573106 19573107 rs188363053 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19573107 19573108 rs192036491 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19573123 19573128 rs143755372 0 + ATAAG ATAAG -/ATAAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,ATAAG, 35.000000,4973.000000, 0.006989,0.993011, 734 chr21 19573139 19573140 rs140933493 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19573149 19573151 rs568991396 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 734 chr21 19573162 19573163 rs552794721 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19573237 19573238 rs577641281 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19573244 19573245 rs748833493 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19573257 19573258 rs59963108 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.286042 0.247388 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4142.000000,866.000000, 0.827077,0.172923, maf-5-some-pop 734 chr21 19573268 19573269 rs775976548 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19573305 19573306 rs557104730 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19573311 19573312 rs370349611 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19573319 19573320 rs575638791 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19573336 19573337 rs542943504 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19573382 19573383 rs547450017 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19573388 19573389 rs746295381 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19573389 19573390 rs116527418 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19573394 19573395 rs111832792 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19573397 19573398 rs573285779 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19573414 19573415 rs67168161 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.284209 0.247648 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 859.000000,4149.000000, 0.171526,0.828474, maf-5-some-pop 734 chr21 19573539 19573540 rs776044017 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19573622 19573623 rs568453293 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19573772 19573773 rs77940201 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.284209 0.247648 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 859.000000,4149.000000, 0.171526,0.828474, maf-5-some-pop 734 chr21 19573781 19573781 rs568435534 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.283158 0.247791 intron between 1 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP, 2 -,A, 4153.000000,855.000000, 0.829273,0.170727, maf-5-some-pop 734 chr21 19573782 19573782 rs143160487 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,LUNTER, 0 734 chr21 19573784 19573785 rs532621277 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19573790 19573791 rs79378157 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19573791 19573792 rs77106920 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19573880 19573880 rs199808475 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron between 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,T, 4983.000000,25.000000, 0.995008,0.004992, 734 chr21 19573963 19573964 rs58322126 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.284209 0.247648 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4149.000000,859.000000, 0.828474,0.171526, maf-5-some-pop 734 chr21 19573972 19573973 rs573779749 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19573975 19573976 rs182909050 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19573989 19573990 rs547228053 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19574001 19574002 rs373575674 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19574023 19574024 rs761903664 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574037 19574038 rs530365536 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19574103 19574104 rs548482141 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19574117 19574118 rs547855975 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 55.000000,4953.000000, 0.010982,0.989018, 734 chr21 19574117 19574117 rs553446441 0 + - - -/T/TT genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 EVA_GENOME_DK,SSIP, 0 734 chr21 19574139 19574140 rs78356409 0 + G G G/T genomic single by-cluster 0.5 0 intron exact 1 2 ENSEMBL,WEILL_CORNELL_DGM, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19574147 19574148 rs188366158 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19574159 19574160 rs865793836 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19574181 19574182 rs113703330 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 734 chr21 19574199 19574200 rs796242314 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19574215 19574216 rs868868569 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19574220 19574221 rs546542924 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19574221 19574222 rs377532518 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19574223 19574224 rs538706239 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19574266 19574267 rs557240676 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19574278 19574279 rs750710380 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19574280 19574281 rs763117501 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19574283 19574284 rs113895357 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19574316 19574317 rs556237139 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 0 734 chr21 19574339 19574340 rs765522775 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574343 19574344 rs9305853 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.330482 0.236691 intron exact 1 24 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1046.000000,3962.000000, 0.208866,0.791134, maf-5-some-pop,maf-5-all-pops 734 chr21 19574347 19574348 rs539713313 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19574410 19574411 rs759413777 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574417 19574418 rs113019817 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 167.000000,4841.000000, 0.033347,0.966653, maf-5-some-pop 734 chr21 19574492 19574493 rs142182104 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19574511 19574512 rs9978113 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19574528 19574529 rs752736229 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574540 19574541 rs573138687 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19574544 19574545 rs544791020 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574553 19574554 rs540300698 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19574625 19574626 rs558888090 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19574667 19574668 rs567767127 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19574713 19574714 rs191846208 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19574738 19574739 rs763630303 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574739 19574740 rs564582116 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574760 19574761 rs59197425 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 HGSV, 0 734 chr21 19574772 19574773 rs544683182 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19574786 19574787 rs754876813 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19574790 19574791 rs182130734 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19574900 19574901 rs9305854 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.340108 0.233197 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3920.000000,1088.000000, 0.782748,0.217252, maf-5-some-pop 734 chr21 19574939 19574940 rs112295852 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4941.000000,67.000000, 0.986621,0.013379, 734 chr21 19574951 19574952 rs746216785 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574958 19574962 rs755913526 0 + GTCT GTCT -/GTCT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19574962 19574962 rs148301806 0 + - - -/GTTGTTTAAGACATCCA genomic insertion by-cluster,by-frequency,by-1000genomes 0.179105 0.239737 intron between 1 7 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,GTTGTTTAAGACATCCA, 4510.000000,498.000000, 0.900559,0.099441, maf-5-some-pop 734 chr21 19574964 19574965 rs777374593 0 + G G G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 734 chr21 19574964 19574964 rs375127534 0 + - - -/TGTTTAAGACATCCAGT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 TISHKOFF, 0 734 chr21 19574975 19574975 rs754787789 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574988 19574989 rs758820413 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19574993 19574994 rs749008282 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19575000 19575001 rs541990051 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19575041 19575042 rs560430936 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19575073 19575074 rs186809707 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19575135 19575136 rs770418895 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19575164 19575165 rs560141759 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19575205 19575206 rs73893027 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05397 0.155153 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4869.000000,139.000000, 0.972244,0.027756, maf-5-some-pop 734 chr21 19575206 19575207 rs192517562 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19575229 19575229 rs113448832 0 + - - -/TATC genomic insertion by-cluster,by-frequency,by-1000genomes 0.185155 0.241444 intron between 1 12 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,TATC, 4491.000000,517.000000, 0.896765,0.103235, maf-5-some-pop 734 chr21 19575232 19575233 rs747452735 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575237 19575238 rs769186081 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575245 19575246 rs549175565 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19575253 19575254 rs776526498 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575275 19575276 rs563021536 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19575293 19575294 rs748311222 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575299 19575300 rs769872720 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575387 19575388 rs558789839 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19575410 19575411 rs145918078 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575441 19575441 rs777529116 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575462 19575463 rs532151662 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19575483 19575484 rs550707124 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19575495 19575496 rs9305855 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.340559 0.233022 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 1090.000000,3918.000000, 0.217652,0.782348, maf-5-some-pop 734 chr21 19575520 19575521 rs767362135 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575523 19575524 rs67901188 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.120674 0.21395 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4685.000000,323.000000, 0.935503,0.064497, maf-5-some-pop 734 chr21 19575564 19575565 rs67912952 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.118584 0.212673 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 317.000000,4691.000000, 0.063299,0.936701, maf-5-some-pop 734 chr21 19575613 19575614 rs367591743 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19575618 19575619 rs138647238 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 51.000000,4957.000000, 0.010184,0.989816, 734 chr21 19575704 19575705 rs371264806 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19575707 19575708 rs536011526 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19575727 19575728 rs558719205 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19575730 19575731 rs748811495 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575761 19575762 rs577178376 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19575770 19575771 rs866216611 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19575783 19575786 rs547396678 0 + ATT ATT -/ATT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA-GONL, 0 734 chr21 19575783 19575784 rs866812601 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 734 chr21 19575789 19575790 rs10432900 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.463989 0.129263 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 1832.000000,3176.000000, 0.365815,0.634185, maf-5-some-pop 734 chr21 19575878 19575879 rs761455416 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575881 19575882 rs560446278 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19575896 19575897 rs764784198 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19575903 19575907 rs569133406 0 + CTGT CTGT -/CTGT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,CTGT, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19575906 19575907 rs149314061 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,T, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19575907 19575908 rs574556283 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19575925 19575926 rs62213376 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 11 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 734 chr21 19575985 19575986 rs185858966 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19575997 19575998 rs555937316 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576048 19576049 rs797012819 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19576057 19576058 rs758054262 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576058 19576059 rs371816613 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 734 chr21 19576080 19576081 rs546014627 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19576108 19576109 rs572697509 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19576188 19576189 rs546467458 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19576226 19576227 rs751647527 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19576236 19576237 rs564586210 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19576307 19576308 rs538044859 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576330 19576331 rs532140299 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19576338 19576339 rs995198 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.33875 0.233717 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3926.000000,1082.000000, 0.783946,0.216054, maf-5-some-pop 734 chr21 19576377 19576378 rs781741020 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576404 19576405 rs767468981 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19576430 19576434 rs775905316 0 + AAAT AAAT -/AAAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576449 19576450 rs574885516 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19576453 19576454 rs562604239 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19576474 19576475 rs529790836 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19576498 19576499 rs548448719 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19576532 19576533 rs73202976 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.047915 0.147179 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4885.000000,123.000000, 0.975439,0.024561, 734 chr21 19576550 19576551 rs540558754 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19576552 19576553 rs533707475 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19576577 19576578 rs143599176 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19576619 19576619 rs535605185 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 734 chr21 19576620 19576621 rs769970375 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576646 19576647 rs570625162 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19576664 19576665 rs147994159 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4953.000000,55.000000, 0.989018,0.010982, 734 chr21 19576706 19576707 rs573671617 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19576743 19576744 rs142329598 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 intron exact 1 8 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4852.000000,156.000000, 0.968850,0.031150, maf-5-some-pop 734 chr21 19576781 19576782 rs771309682 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576828 19576828 rs368957970 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 734 chr21 19576842 19576843 rs775374965 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576858 19576859 rs543012017 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576865 19576866 rs377464404 0 + T T A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 734 chr21 19576892 19576893 rs574621498 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19576903 19576904 rs776690897 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19576909 19576910 rs753651365 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19576940 19576941 rs535551081 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19576966 19576967 rs562803865 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19576975 19576976 rs554111984 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19576979 19576980 rs372649356 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19576994 19576995 rs756840081 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19577011 19577012 rs572612778 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19577031 19577031 rs36103667 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19577034 19577035 rs189927729 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19577061 19577062 rs761670467 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577063 19577064 rs764738305 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577127 19577128 rs193182768 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19577141 19577142 rs778570873 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19577146 19577147 rs749971105 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577167 19577168 rs145980252 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19577177 19577178 rs544252227 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19577192 19577193 rs562463562 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19577195 19577196 rs8128829 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.480775 0.09614 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2013.000000,2995.000000, 0.401957,0.598043, maf-5-some-pop 734 chr21 19577216 19577217 rs59735479 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.111928 0.208413 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4710.000000,298.000000, 0.940495,0.059505, maf-5-some-pop 734 chr21 19577225 19577226 rs73893028 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045634 0.143994 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4891.000000,117.000000, 0.976637,0.023363, maf-5-some-pop 734 chr21 19577226 19577227 rs527503017 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19577243 19577244 rs761601441 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 734 chr21 19577274 19577275 rs552050785 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19577282 19577283 rs755399589 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577286 19577287 rs781535558 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577293 19577294 rs139847839 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 734 chr21 19577300 19577301 rs370051995 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19577310 19577311 rs770436969 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19577333 19577334 rs753186811 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577356 19577357 rs549811033 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19577375 19577376 rs142166925 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19577441 19577442 rs185260775 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19577444 19577445 rs150866960 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19577473 19577474 rs756582591 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577482 19577483 rs572423322 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19577536 19577537 rs540041503 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19577580 19577580 rs538129167 0 + - - -/TA genomic insertion by-frequency,by-1000genomes 0.00319 0.039809 intron between 1 1 1000GENOMES, 2 -,TA, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19577583 19577584 rs139353405 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19577611 19577612 rs576854317 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19577686 19577687 rs544116621 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19577687 19577688 rs565107538 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577721 19577722 rs749700345 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19577731 19577731 rs35335649 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19577734 19577735 rs113487593 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19577761 19577762 rs574487303 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19577786 19577786 rs150863917 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.277867 0.248442 intron between 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 4173.000000,835.000000, 0.833267,0.166733, maf-5-some-pop 734 chr21 19577809 19577810 rs541433871 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19577821 19577822 rs150073762 0 + G G G/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19577823 19577824 rs779346845 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19577892 19577893 rs2183558 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.347473 0.230215 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 3887.000000,1121.000000, 0.776158,0.223842, maf-5-some-pop 734 chr21 19577907 19577908 rs867233844 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19578054 19578055 rs56091373 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.418653 0.184544 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,PJP,SSMP, 2 -,T, 3514.000000,1494.000000, 0.701677,0.298323, maf-5-some-pop,maf-5-all-pops 734 chr21 19578055 19578055 rs763735670 0 + - - -/TTT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19578069 19578070 rs79605332 0 + T T G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 734 chr21 19578070 19578071 rs796744564 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 734 chr21 19578075 19578076 rs546008105 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19578105 19578106 rs112945471 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.276534 0.248588 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 830.000000,4178.000000, 0.165735,0.834265, maf-5-some-pop 734 chr21 19578135 19578149 rs748651661 0 + CTCAGCCTCCCACG CTCAGCCTCCCACG CTCAGCCTCCCACG/T genomic in-del unknown 0 0 intron rangeDeletion 1 FlankMismatchGenomeShorter 1 EVA_GENOME_DK, 0 734 chr21 19578146 19578147 rs77276629 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.276534 0.248588 intron exact 1 MixedObserved 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4178.000000,830.000000, 0.834265,0.165735, maf-5-some-pop 734 chr21 19578146 19578149 rs386816742 0 + ACG ACG ACG/GCT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 734 chr21 19578148 19578149 rs76275419 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.276534 0.248588 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4178.000000,830.000000, 0.834265,0.165735, maf-5-some-pop 734 chr21 19578164 19578165 rs140745582 0 + T T C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 734 chr21 19578172 19578173 rs377289861 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19578173 19578174 rs547441882 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19578190 19578191 rs769645383 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19578214 19578215 rs144582324 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19578235 19578236 rs147908718 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19578247 19578248 rs141598567 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 734 chr21 19578304 19578305 rs370848747 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19578355 19578356 rs58802783 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.067446 0.170804 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 175.000000,4833.000000, 0.034944,0.965056, maf-5-some-pop 734 chr21 19578378 19578379 rs556116718 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19578379 19578380 rs556331487 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19578396 19578397 rs571473800 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19578398 19578399 rs762493611 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19578399 19578400 rs766009292 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19578439 19578440 rs188415837 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19578445 19578446 rs80253535 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.172028 0.23753 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4532.000000,476.000000, 0.904952,0.095048, maf-5-some-pop 734 chr21 19578447 19578448 rs115700321 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19578451 19578452 rs572153871 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19578460 19578461 rs59956382 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 171.000000,4837.000000, 0.034145,0.965855, maf-5-some-pop 734 chr21 19578509 19578510 rs563798873 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19578513 19578514 rs376384064 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19578533 19578534 rs543187388 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19578568 19578569 rs753033366 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19578571 19578572 rs561666234 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19578577 19578578 rs756594498 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19578587 19578588 rs529160966 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19578603 19578604 rs547801434 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19578614 19578615 rs565925107 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19578618 19578619 rs533315296 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19578637 19578638 rs551585434 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19578648 19578649 rs764555811 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19578656 19578657 rs368805770 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19578661 19578662 rs570136807 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19578671 19578672 rs371146677 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19578767 19578768 rs373698982 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19578820 19578826 rs574286232 0 + TTTATT TTTATT -/TTTATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TTTATT, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19578928 19578929 rs867518277 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19578966 19578967 rs764836140 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19578973 19578974 rs73316249 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19579108 19579109 rs60776643 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 734 chr21 19579118 19579119 rs567987559 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19579130 19579131 rs535005137 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19579164 19579165 rs750106270 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19579179 19579186 rs754911486 0 + CATTATT CATTATT -/CATTATT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19579179 19579185 rs756453436 0 + CATTAT CATTAT -/CATTAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19579180 19579183 rs138294885 0 + ATT ATT -/ATT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 2 1000GENOMES,LUNTER, 0 734 chr21 19579180 19579186 rs146660823 0 + ATTATT ATTATT -/ATTATT genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 8 1000GENOMES,BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 0 734 chr21 19579183 19579186 rs749859698 0 + ATT ATT -/ATT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19579204 19579213 rs553511968 0 + ATTATTATT ATTATTATT -/ATTATTATT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 734 chr21 19579207 19579208 rs71189590 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 LUNTER, 0 734 chr21 19579207 19579208 rs201467709 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 734 chr21 19579207 19579213 rs869088883 0 + ATTATT ATTATT -/ATTATT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HUMANGENOME_JCVI, 0 734 chr21 19579210 19579213 rs566718974 0 + ATT ATT -/ATT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 734 chr21 19579243 19579244 rs553772248 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19579255 19579256 rs757908773 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19579264 19579265 rs571956433 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19579334 19579335 rs539371914 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19579353 19579354 rs151206790 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19579358 19579359 rs61499899 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.270621 0.249148 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4200.000000,808.000000, 0.838658,0.161342, maf-5-some-pop 734 chr21 19579363 19579364 rs59520701 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.270351 0.24917 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4201.000000,807.000000, 0.838858,0.161142, maf-5-some-pop 734 chr21 19579370 19579371 rs374050233 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19579390 19579391 rs756648877 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19579421 19579422 rs573917669 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19579454 19579455 rs576439755 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19579457 19579458 rs540974897 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19579489 19579490 rs559549205 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19579504 19579505 rs184886673 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19579507 19579508 rs551765469 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19579508 19579509 rs749647080 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19579534 19579534 rs755907986 0 + - - -/C genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19579536 19579536 rs553802783 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.269538 0.249235 intron between 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP, 2 -,T, 4204.000000,804.000000, 0.839457,0.160543, maf-5-some-pop 734 chr21 19579537 19579537 rs142991366 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,LUNTER, 0 734 chr21 19579542 19579542 rs57128911 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 734 chr21 19579551 19579552 rs57133353 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.270892 0.249126 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 809.000000,4199.000000, 0.161542,0.838458, maf-5-some-pop 734 chr21 19579561 19579562 rs59693567 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.273856 0.248859 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 820.000000,4188.000000, 0.163738,0.836262, maf-5-some-pop 734 chr21 19579631 19579632 rs140816597 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,C, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19579655 19579656 rs144586949 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19579742 19579743 rs535180776 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19579744 19579745 rs546981890 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19579782 19579783 rs188338154 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19579805 19579806 rs561154812 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19579813 19579814 rs182059506 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19579844 19579845 rs117301866 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19579855 19579856 rs760778519 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19579872 19579873 rs575761664 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19579898 19579899 rs536748651 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19579976 19579976 rs34259143 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 4 ABI,BILGI_BIOE,PJP,SSMP, 0 734 chr21 19579997 19579998 rs868456213 0 + G G G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 734 chr21 19579997 19579997 rs397792081 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 734 chr21 19580001 19580002 rs549488129 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19580048 19580049 rs748779545 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19580078 19580079 rs555000869 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19580087 19580088 rs770365755 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19580092 19580092 rs576867281 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 2 1000GENOMES,SSMP, 2 -,A, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19580152 19580153 rs187606075 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19580165 19580166 rs112365968 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19580189 19580190 rs559402917 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19580202 19580203 rs7279300 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.270351 0.24917 intron exact 1 15 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 807.000000,4201.000000, 0.161142,0.838858, maf-5-some-pop 734 chr21 19580240 19580241 rs138596805 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 38.000000,4970.000000, 0.007588,0.992412, 734 chr21 19580241 19580242 rs776601579 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19580262 19580263 rs73316253 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 734 chr21 19580272 19580273 rs759186726 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19580292 19580293 rs531068792 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19580364 19580364 rs36033118 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19580369 19580370 rs767097259 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19580386 19580387 rs549509087 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19580396 19580397 rs373631436 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 734 chr21 19580401 19580402 rs775901440 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19580411 19580411 rs34708114 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19580434 19580435 rs141680983 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4897.000000,111.000000, 0.977835,0.022164, maf-5-some-pop 734 chr21 19580441 19580442 rs551827394 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19580454 19580455 rs528700730 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19580456 19580457 rs547139877 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19580466 19580467 rs571884887 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19580474 19580475 rs538926974 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19580476 19580482 rs139243429 0 + TTCTTC TTCTTC -/TTCTTC genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 734 chr21 19580486 19580488 rs200018605 0 + TC TC -/TC genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 734 chr21 19580488 19580488 rs113821427 0 + - - -/T/TT/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.361053 0.22398 intron between 1 InconsistentAlleles 9 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP, 2 -,T, 3824.000000,1184.000000, 0.763578,0.236422, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 734 chr21 19580489 19580489 rs201033264 0 + - - -/TC genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19580508 19580512 rs146127451 0 + CTGA CTGA -/CTGA genomic deletion by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 intron range 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,CTGA, 136.000000,4872.000000, 0.027157,0.972843, maf-5-some-pop 734 chr21 19580511 19580515 rs374383669 0 + ACTG ACTG -/ACTG genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19580530 19580531 rs561902755 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 734 chr21 19580571 19580572 rs144494384 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19580578 19580579 rs12373929 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.348794 0.229651 intron exact 1 19 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3881.000000,1127.000000, 0.774960,0.225040, maf-5-some-pop 734 chr21 19580650 19580651 rs191483372 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19580685 19580686 rs370363653 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 -,A, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19580695 19580696 rs555061645 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19580699 19580700 rs567317803 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19580721 19580722 rs764997069 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19580775 19580776 rs534087134 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19580779 19580780 rs373441848 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19580782 19580784 rs775818017 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19580797 19580798 rs534549877 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19580827 19580828 rs547627041 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19580863 19580864 rs62213377 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 10 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 734 chr21 19580870 19580871 rs111683697 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19580908 19580909 rs141936353 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19580910 19580911 rs796170897 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19580929 19580930 rs760715466 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 734 chr21 19581005 19581006 rs183550567 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19581009 19581010 rs557253196 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19581034 19581035 rs186147237 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19581039 19581040 rs766086468 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19581053 19581054 rs543016988 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19581066 19581067 rs561242824 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19581107 19581108 rs751062474 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19581183 19581184 rs79508952 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043728 0.141251 intron exact 1 MixedObserved 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4896.000000,112.000000, 0.977636,0.022364, maf-5-some-pop 734 chr21 19581183 19581184 rs201147747 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 MixedObserved 2 1000GENOMES,LUNTER, 2 -,C, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 734 chr21 19581189 19581190 rs112259094 0 + C C A/C/T genomic single by-cluster 0.5 0 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 BUSHMAN,SSIP, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19581195 19581196 rs150696236 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19581261 19581262 rs190066842 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19581266 19581267 rs62213378 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.476052 0.106772 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3052.000000,1956.000000, 0.609425,0.390575, maf-5-some-pop,maf-5-all-pops 734 chr21 19581270 19581271 rs140993111 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19581307 19581308 rs576355137 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19581318 19581319 rs374711270 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 -,C, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19581323 19581324 rs569177635 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19581346 19581347 rs530437981 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19581430 19581431 rs144619929 0 + G G C/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19581441 19581442 rs147447207 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4923.000000,85.000000, 0.983027,0.016973, 734 chr21 19581464 19581465 rs747973961 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19581466 19581467 rs115194437 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4897.000000,111.000000, 0.977835,0.022164, maf-5-some-pop 734 chr21 19581513 19581514 rs112902880 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19581533 19581534 rs552931784 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19581537 19581538 rs62213379 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.379354 0.213933 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1274.000000,3734.000000, 0.254393,0.745607, maf-5-some-pop,maf-5-all-pops 734 chr21 19581540 19581541 rs139864826 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19581542 19581543 rs62213380 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.381113 0.21286 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 14 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3725.000000,1283.000000, 0.743810,0.256190, maf-5-some-pop,maf-5-all-pops 734 chr21 19581610 19581611 rs114595189 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.047155 0.14613 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 121.000000,4887.000000, 0.024161,0.975839, 734 chr21 19581615 19581616 rs770883045 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19581636 19581637 rs757684536 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19581650 19581651 rs543080583 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19581670 19581671 rs150022806 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19581688 19581689 rs182848136 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19581694 19581695 rs779090325 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19581699 19581700 rs540715538 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19581745 19581746 rs369539392 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19581750 19581751 rs79949821 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19581760 19581761 rs532587427 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19581779 19581780 rs544364536 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19581799 19581800 rs8131954 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.049433 0.149241 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 734 chr21 19581822 19581823 rs114180921 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 40.000000,4968.000000, 0.007987,0.992013, 734 chr21 19581837 19581838 rs771724028 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19581887 19581888 rs548749011 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19581889 19581890 rs145237466 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19581897 19581898 rs148886049 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19581906 19581907 rs376305414 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19581917 19581918 rs571337632 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19581947 19581948 rs186768620 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19581958 19581959 rs760388717 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19581979 19581980 rs7281191 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.058485 0.160693 intron exact 1 9 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4857.000000,151.000000, 0.969848,0.030152, maf-5-some-pop 734 chr21 19581985 19581986 rs780349474 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19582008 19582009 rs563457954 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19582019 19582020 rs569205474 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19582050 19582051 rs532085492 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19582058 19582059 rs866127259 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19582067 19582068 rs142598012 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19582076 19582077 rs151016246 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19582085 19582086 rs533910566 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19582110 19582111 rs141067292 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 53.000000,4955.000000, 0.010583,0.989417, 734 chr21 19582127 19582128 rs559016361 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19582131 19582132 rs576909338 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19582187 19582188 rs544430550 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19582238 19582239 rs191572179 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 C,T, 42.000000,4966.000000, 0.008387,0.991613, 734 chr21 19582239 19582240 rs7276198 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.222333 0.248464 intron exact 1 MixedObserved 18 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4370.000000,638.000000, 0.872604,0.127396, maf-5-some-pop 734 chr21 19582239 19582240 rs199862322 0 + C C -/C genomic deletion by-1000genomes 0 0 intron exact 1 MixedObserved 1 1000GENOMES, 0 734 chr21 19582255 19582256 rs71319676 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19582265 19582266 rs115099409 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4957.000000,51.000000, 0.989816,0.010184, 734 chr21 19582273 19582274 rs560577367 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19582282 19582283 rs528111272 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19582322 19582323 rs776533889 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19582345 19582346 rs538982067 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19582358 19582359 rs565008505 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19582386 19582387 rs144872513 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19582398 19582399 rs550843458 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19582469 19582470 rs547565954 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19582525 19582526 rs7277077 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.234982 0.249549 intron exact 1 16 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4327.000000,681.000000, 0.864018,0.135982, maf-5-some-pop 734 chr21 19582616 19582617 rs576595442 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19582618 19582619 rs750487055 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19582633 19582634 rs536021611 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19582636 19582637 rs763013977 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19582659 19582660 rs114516282 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19582660 19582661 rs376917586 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19582697 19582698 rs138550637 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19582708 19582709 rs73893029 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.13446 0.221699 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4645.000000,363.000000, 0.927516,0.072484, maf-5-some-pop 734 chr21 19582739 19582740 rs761103684 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19582744 19582745 rs374475287 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19582813 19582814 rs755193282 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19582893 19582894 rs772842606 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19582904 19582904 rs527653121 0 + - - -/CT genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,CT, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19582907 19582907 rs550400421 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19582915 19582916 rs762828856 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19582921 19582922 rs558505404 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19582928 19582929 rs183784915 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19582930 19582931 rs140223018 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19582933 19582934 rs201661447 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19582935 19582936 rs369672751 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19582971 19582972 rs188945822 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19583008 19583009 rs574978915 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19583013 19583014 rs753653306 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583016 19583017 rs542030472 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19583027 19583028 rs560855397 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583030 19583031 rs193115372 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19583042 19583043 rs540252048 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583046 19583046 rs762017289 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583130 19583131 rs150332467 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19583163 19583164 rs778861304 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583192 19583193 rs76312810 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19583214 19583215 rs745378402 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583272 19583273 rs771426985 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583282 19583283 rs544337380 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19583296 19583297 rs562523766 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583298 19583299 rs556005443 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19583311 19583312 rs529912296 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583344 19583345 rs548063577 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583360 19583361 rs566785649 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583369 19583370 rs765924188 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19583419 19583420 rs527586085 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583423 19583424 rs2859895 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 734 chr21 19583426 19583427 rs201267163 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19583457 19583458 rs866704140 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19583458 19583458 rs137863823 0 + - - -/ACAC/ACACAC/ACACACAC genomic insertion by-cluster,by-frequency,by-1000genomes 0.489492 0.071718 intron between 1 InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,ACAC, 2867.000000,2141.000000, 0.572484,0.427516, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 734 chr21 19583464 19583464 rs143526252 0 + - - -/CACA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 734 chr21 19583466 19583466 rs33986997 0 + - - -/CACA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 734 chr21 19583478 19583478 rs869156641 0 + - - -/CACA genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 734 chr21 19583479 19583483 rs3077936 0 + CACA CACA -/CACA genomic deletion unknown 0 0 intron range 1 1 TSC-CSHL, 0 734 chr21 19583484 19583485 rs570259284 0 + A A A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA-GONL,WEILL_CORNELL_DGM, 0 734 chr21 19583485 19583487 rs796294815 0 + CT CT -/CT genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 734 chr21 19583485 19583485 rs756032552 0 + - - -/CACACC/CACC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583486 19583487 rs3077937 0 + T T A/T genomic single by-cluster 0.5 0 intron exact 1 6 BUSHMAN,DDI,GMI,HGSV,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19583486 19583486 rs869049368 0 + - - -/ACACAC/ACACACAC genomic insertion unknown 0 0 intron between 1 2 HGSV,TSC-CSHL, 0 734 chr21 19583492 19583493 rs58841086 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 734 chr21 19583504 19583505 rs552192178 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583505 19583506 rs570520801 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583531 19583532 rs796596869 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19583555 19583556 rs537800433 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583559 19583560 rs2223983 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.118933 0.212888 intron exact 1 12 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 4690.000000,318.000000, 0.936502,0.063498, maf-5-some-pop,genotype-conflict 734 chr21 19583561 19583562 rs568428479 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583592 19583593 rs367992411 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19583598 19583599 rs536082655 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583603 19583604 rs149619569 0 + C C C/T genomic single by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4971.000000,37.000000, 0.992612,0.007388, 734 chr21 19583619 19583620 rs768446143 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583635 19583636 rs144312954 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, maf-5-some-pop 734 chr21 19583649 19583650 rs546511512 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583676 19583677 rs185123944 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583800 19583801 rs576913681 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583862 19583863 rs544190515 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19583907 19583908 rs562602440 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19583924 19583925 rs559038382 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19583947 19583948 rs558565839 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19583948 19583949 rs542052011 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19583949 19583950 rs762310865 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19583968 19583969 rs188943157 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19584022 19584023 rs770424492 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19584029 19584030 rs773653995 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19584052 19584053 rs191663269 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19584086 19584087 rs139356934 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584092 19584093 rs75675918 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4882.000000,126.000000, 0.974840,0.025160, maf-5-some-pop 734 chr21 19584119 19584120 rs73202996 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.188631 0.242351 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4480.000000,528.000000, 0.894569,0.105431, maf-5-some-pop 734 chr21 19584134 19584135 rs73202999 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.047155 0.14613 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 121.000000,4887.000000, 0.024161,0.975839, 734 chr21 19584138 19584139 rs28665001 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19584140 19584141 rs767774444 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19584141 19584142 rs184131527 0 + T T C/T genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 734 chr21 19584161 19584162 rs535575222 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19584219 19584220 rs554387007 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584232 19584234 rs564560207 0 + GA GA -/GA genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,GA, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19584232 19584233 rs566153676 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19584237 19584241 rs745411150 0 + TCTA TCTA -/TCTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19584246 19584247 rs188081342 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19584280 19584281 rs147535922 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4908.000000,100.000000, 0.980032,0.019968, maf-5-some-pop 734 chr21 19584281 19584282 rs558513669 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584297 19584298 rs576790315 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19584335 19584336 rs181001234 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19584345 19584346 rs368305360 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19584354 19584355 rs555880273 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584364 19584365 rs574514192 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19584431 19584432 rs116347739 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.046775 0.145601 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 120.000000,4888.000000, 0.023962,0.976038, maf-5-some-pop 734 chr21 19584439 19584440 rs560145900 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584457 19584458 rs142782770 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19584465 19584474 rs533476873 0 + CACTGATGT CACTGATGT -/CACTGATGT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,CACTGATGT, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19584466 19584475 rs371148063 0 + ACTGATGTC ACTGATGTC -/ACTGATGTC genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19584491 19584492 rs545559882 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584492 19584493 rs574546873 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19584506 19584507 rs543255772 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19584526 19584527 rs150645264 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19584537 19584538 rs372636946 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19584562 19584563 rs561927802 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19584575 19584576 rs529249272 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19584576 19584577 rs139747474 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19584707 19584708 rs964529 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.47517 0.10862 intron exact 1 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1946.000000,3062.000000, 0.388578,0.611422, maf-5-some-pop 734 chr21 19584730 19584731 rs779385293 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19584819 19584820 rs186033892 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584824 19584825 rs867860297 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19584864 19584865 rs758849629 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19584888 19584889 rs62213412 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 734 chr21 19584888 19584888 rs201164811 0 + - - -/TAA genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19584889 19584889 rs145817582 0 + - - -/AATA genomic insertion by-cluster,by-frequency,by-1000genomes 0.47517 0.10862 intron between 1 11 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,AATA, 3062.000000,1946.000000, 0.611422,0.388578, maf-5-some-pop,maf-5-all-pops 734 chr21 19584890 19584890 rs34564161 0 + - - -/AATA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 734 chr21 19584892 19584892 rs386394358 0 + - - -/TAAA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 734 chr21 19584895 19584895 rs3077940 0 + - - -/TAAA genomic insertion by-cluster 0 0 intron between 1 4 ABI,BCMHGSC_JDW,GMI,TSC-CSHL, 0 734 chr21 19584896 19584897 rs190490973 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584938 19584939 rs570408064 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19584942 19584942 rs35454465 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19584945 19584946 rs149932240 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19584947 19584948 rs182147924 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19584955 19584956 rs368931674 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19584958 19584959 rs574351876 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19584997 19584998 rs535401571 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19585002 19585003 rs186090758 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19585024 19585025 rs146498317 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19585042 19585043 rs190808616 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19585078 19585079 rs11911257 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.108402 0.206034 intron exact 1 11 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 288.000000,4720.000000, 0.057508,0.942492, maf-5-some-pop 734 chr21 19585129 19585130 rs558954558 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19585170 19585171 rs746568875 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585206 19585207 rs563936591 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19585244 19585245 rs768395032 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585265 19585268 rs769075364 0 + TGA TGA -/TGA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585288 19585289 rs371333247 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19585306 19585307 rs575972300 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19585318 19585319 rs377281555 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19585364 19585365 rs781060205 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585369 19585370 rs543363901 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19585394 19585395 rs182628198 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19585424 19585425 rs375966000 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19585466 19585467 rs770230112 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585467 19585468 rs773627775 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585468 19585469 rs114757735 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 734 chr21 19585484 19585485 rs771488994 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585488 19585489 rs559911751 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19585490 19585491 rs774269470 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585491 19585492 rs185812283 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19585537 19585538 rs759651933 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585597 19585598 rs552042016 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19585660 19585661 rs767721432 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585665 19585666 rs867370108 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19585694 19585694 rs34134547 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19585695 19585695 rs757800912 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19585716 19585717 rs141003849 0 + C C C/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 C,G, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19585722 19585723 rs112099772 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19585729 19585730 rs775745728 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585730 19585731 rs191274073 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19585743 19585744 rs117067061 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19585775 19585776 rs182678182 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 734 chr21 19585783 19585784 rs111577941 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 734 chr21 19585787 19585787 rs34567706 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19585788 19585788 rs35743253 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19585791 19585792 rs187631242 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19585857 19585858 rs115010535 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 734 chr21 19585894 19585895 rs539138345 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19585953 19585954 rs192096058 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19585955 19585956 rs149852049 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,LUNTER, 2 -,A, 18.000000,4990.000000, 0.003594,0.996406, 734 chr21 19585959 19585960 rs758247420 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19585977 19585978 rs575837613 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19586004 19586005 rs116164658 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 A,T, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19586071 19586072 rs555392674 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19586093 19586094 rs572106769 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19586132 19586133 rs573854648 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19586141 19586142 rs79297434 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 734 chr21 19586192 19586193 rs143512357 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19586239 19586240 rs754598195 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19586266 19586267 rs533322154 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19586267 19586268 rs67842331 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.240478 0.249819 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4308.000000,700.000000, 0.860224,0.139776, maf-5-some-pop 734 chr21 19586289 19586290 rs146751485 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 34.000000,4974.000000, 0.006789,0.993211, 734 chr21 19586292 19586293 rs183441630 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19586320 19586321 rs759207140 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19586389 19586390 rs549539835 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19586390 19586391 rs111678865 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19586393 19586394 rs11909571 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.056231 0.157967 intron exact 1 10 1000GENOMES,AFFY,CSHL-HAPMAP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 145.000000,4863.000000, 0.028954,0.971046, maf-5-some-pop 734 chr21 19586411 19586412 rs547119023 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19586441 19586442 rs187336070 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19586456 19586457 rs148827389 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19586460 19586461 rs771310495 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19586523 19586524 rs752218904 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19586574 19586575 rs557455353 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19586585 19586586 rs373818823 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19586596 19586597 rs569380642 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19586597 19586598 rs536885883 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19586608 19586609 rs73316263 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 734 chr21 19586612 19586613 rs774903048 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19586662 19586663 rs7279186 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.118235 0.212457 intron exact 1 19 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4692.000000,316.000000, 0.936901,0.063099, maf-5-some-pop,genotype-conflict 734 chr21 19586664 19586665 rs765642613 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19586738 19586739 rs772080740 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19586752 19586753 rs541324975 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19586775 19586776 rs742951 0 - C C A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.039905 0.1355 intron exact 1 10 1000GENOMES,ABI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 734 chr21 19586787 19586788 rs760839499 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19586829 19586830 rs764426612 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19586839 19586840 rs578084999 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19586858 19586861 rs548430527 0 + GAT GAT -/GAT genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 1 1000GENOMES, 2 -,GAT, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19586869 19586870 rs545386611 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19586870 19586871 rs566044359 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19586876 19586877 rs563805881 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19586897 19586898 rs150957832 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19586996 19586997 rs766216839 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587044 19587045 rs542900022 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19587084 19587085 rs192235328 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19587118 19587119 rs528638931 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19587120 19587121 rs751487521 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587131 19587132 rs546894533 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19587148 19587149 rs183891046 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 734 chr21 19587153 19587154 rs767092105 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587158 19587159 rs532782543 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19587167 19587168 rs550949436 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19587213 19587215 rs748415991 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587221 19587222 rs150112349 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19587231 19587232 rs755696628 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587233 19587234 rs371592961 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19587234 19587235 rs777518406 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587315 19587316 rs780336015 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19587346 19587347 rs369530905 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19587375 19587376 rs186893752 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19587380 19587381 rs749609136 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587386 19587387 rs73204805 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4882.000000,126.000000, 0.974840,0.025160, maf-5-some-pop 734 chr21 19587406 19587407 rs192732944 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 734 chr21 19587423 19587424 rs139293214 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19587428 19587429 rs78950451 0 + G G G/T genomic single by-frequency 0.5 0 intron exact 1 1 CHURCH_CG54K, 2 G,T, 2.000000,2.000000, 0.500000,0.500000, 734 chr21 19587429 19587430 rs866059036 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19587471 19587472 rs143190165 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19587485 19587486 rs746334867 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587516 19587517 rs76175429 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19587516 19587516 rs770024031 0 + - - -/A/AA genomic insertion by-cluster 0 0 intron between 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 0 734 chr21 19587517 19587517 rs557413774 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 734 chr21 19587527 19587529 rs869194888 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 734 chr21 19587576 19587577 rs772590750 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587584 19587585 rs539070135 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19587586 19587587 rs568471622 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19587609 19587610 rs537241588 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19587611 19587612 rs147123707 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 734 chr21 19587613 19587614 rs543110093 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19587633 19587634 rs73204807 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.053216 0.154195 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4871.000000,137.000000, 0.972644,0.027356, maf-5-some-pop 734 chr21 19587637 19587638 rs115056535 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4954.000000,54.000000, 0.989217,0.010783, 734 chr21 19587643 19587644 rs149568336 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 115.000000,4893.000000, 0.022963,0.977037, maf-5-some-pop 734 chr21 19587644 19587645 rs370510721 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19587650 19587651 rs144201609 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19587651 19587652 rs551012548 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19587658 19587659 rs774315582 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587659 19587660 rs369776281 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19587682 19587683 rs148746504 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19587716 19587717 rs375285994 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 734 chr21 19587734 19587735 rs756255211 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19587743 19587744 rs530386793 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19587763 19587764 rs2824706 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.358515 0.225221 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1172.000000,3836.000000, 0.234026,0.765974, maf-5-some-pop 734 chr21 19587792 19587793 rs567223521 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19587848 19587849 rs534843082 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19587892 19587892 rs749306914 0 + - - -/AGCA genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19587893 19587893 rs770789195 0 + - - -/CTGAACAGCAA genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19587894 19587894 rs763108794 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19587900 19587901 rs546801336 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19587923 19587924 rs370927946 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 734 chr21 19587939 19587940 rs146326131 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19587968 19587969 rs139937139 0 + C C C/T genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 734 chr21 19587972 19587973 rs575603436 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19587996 19587997 rs375287776 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19588039 19588040 rs745689240 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19588070 19588071 rs760298340 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588092 19588093 rs368644100 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19588136 19588137 rs536217143 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588192 19588193 rs555066327 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588200 19588201 rs763639061 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588203 19588204 rs73316267 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.202959 0.245534 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 574.000000,4434.000000, 0.114617,0.885383, maf-5-some-pop 734 chr21 19588252 19588253 rs540456683 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19588261 19588262 rs143339267 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588265 19588266 rs146761956 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 25.000000,4983.000000, 0.004992,0.995008, 734 chr21 19588299 19588300 rs184276914 0 + A A A/C genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19588302 19588303 rs563008029 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19588321 19588325 rs766356020 0 + TATC TATC -/TATC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588325 19588328 rs796567785 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 734 chr21 19588327 19588330 rs367567103 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19588352 19588352 rs142026708 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron between 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,A, 4846.000000,162.000000, 0.967652,0.032348, maf-5-some-pop 734 chr21 19588378 19588379 rs530550930 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588390 19588391 rs548680746 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19588442 19588443 rs13047916 0 + T T G/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 ABI,SSAHASNP, 0 734 chr21 19588442 19588442 rs561810205 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588453 19588454 rs13047920 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19588457 19588458 rs13047921 0 + T T G/T genomic single by-cluster 0.5 0 intron exact 1 2 HUMANGENOME_JCVI,SSAHASNP, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19588473 19588474 rs561073816 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588493 19588494 rs528185075 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19588528 19588529 rs546862689 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588531 19588532 rs760074854 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19588535 19588536 rs74942486 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.036066 0.129354 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,T, 92.000000,4916.000000, 0.018371,0.981629, maf-5-some-pop 734 chr21 19588556 19588557 rs538795878 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588561 19588562 rs139173903 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4958.000000,50.000000, 0.990016,0.009984, 734 chr21 19588576 19588577 rs530565463 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19588595 19588596 rs569026296 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19588603 19588604 rs536675754 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19588610 19588611 rs112905203 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.057734 0.159793 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 149.000000,4859.000000, 0.029752,0.970248, maf-5-some-pop 734 chr21 19588635 19588636 rs566661350 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19588665 19588666 rs149880401 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19588700 19588701 rs758873289 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588728 19588729 rs780605942 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588782 19588783 rs776014543 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19588789 19588790 rs534034610 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588810 19588811 rs770279821 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19588812 19588812 rs533733862 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.006369 0.056072 intron between 1 1 1000GENOMES, 2 -,T, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19588819 19588819 rs56673098 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 734 chr21 19588824 19588825 rs558588512 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588883 19588883 rs763447562 0 + - - -/ATA genomic insertion by-cluster 0 0 intron between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588906 19588907 rs747048856 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588916 19588917 rs541044973 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19588924 19588925 rs577040297 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19588928 19588929 rs376455182 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19588941 19588942 rs189367314 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19588950 19588951 rs556846165 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19588980 19588981 rs766899444 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19588987 19588989 rs764944114 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19588991 19588992 rs575018330 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19589001 19589002 rs751868732 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19589073 19589074 rs57486606 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4886.000000,122.000000, 0.975639,0.024361, 734 chr21 19589082 19589083 rs560719513 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19589117 19589118 rs367707441 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19589136 19589137 rs781140111 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19589149 19589150 rs866203677 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19589150 19589151 rs144913225 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19589183 19589184 rs757980294 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19589193 19589194 rs748366136 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19589236 19589237 rs532768896 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19589293 19589294 rs182365644 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19589305 19589306 rs149032967 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19589307 19589308 rs114231836 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4971.000000,37.000000, 0.992612,0.007388, 734 chr21 19589320 19589321 rs569164117 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19589358 19589359 rs185058487 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19589388 19589389 rs373119916 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19589417 19589418 rs552875041 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19589444 19589445 rs566379160 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19589487 19589488 rs566539084 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19589489 19589490 rs553496438 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.003233 0.040074 intron exact 1 1 1000GENOMES, 2 -,G, 6.000000,3700.000000, 0.001619,0.998381, 734 chr21 19589489 19589489 rs112468026 0 + - - -/G genomic insertion by-cluster,by-1000genomes 0.5 0 intron between 1 14 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19589490 19589490 rs576469095 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.385084 0.210362 intron between 1 1 1000GENOMES, 2 -,G, 3700.000000,1302.000000, 0.739704,0.260296, maf-5-some-pop,maf-5-all-pops 734 chr21 19589516 19589517 rs371546443 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19589524 19589525 rs73204808 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 67.000000,4941.000000, 0.013379,0.986621, 734 chr21 19589566 19589567 rs112359577 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 734 chr21 19589575 19589576 rs369341636 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19589577 19589577 rs35868677 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19589587 19589588 rs570590844 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19589595 19589596 rs145897531 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19589599 19589600 rs556471773 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19589641 19589641 rs36050975 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19589709 19589712 rs755452959 0 + AGG AGG -/AGG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19589725 19589726 rs539142163 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19589751 19589752 rs564872362 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19589797 19589798 rs530405893 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19589807 19589807 rs537178512 0 + - - -/C/CC genomic insertion by-cluster,by-frequency,by-1000genomes 0.047407 0.14773 intron between 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 3 -,C,CC, 4887.000000,83.000000,38.000000, 0.975839,0.016573,0.007588, 734 chr21 19589813 19589814 rs116060456 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 734 chr21 19589814 19589814 rs59405917 0 + - - -/C/CCC genomic insertion by-cluster 0.5 0 intron between 1 InconsistentAlleles 3 BUSHMAN,HGSV,TISHKOFF, 2 -,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19589834 19589835 rs542161840 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19589846 19589847 rs147794584 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19589849 19589850 rs188998913 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19589858 19589859 rs796276944 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19589860 19589861 rs540204852 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19589870 19589871 rs564998586 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19589871 19589872 rs761506313 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19589914 19589915 rs570280130 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19589942 19589943 rs539273590 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19589968 19589969 rs111779659 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,G, 35.000000,4973.000000, 0.006989,0.993011, 734 chr21 19589975 19589976 rs867869599 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19589998 19589999 rs567348313 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19590039 19590040 rs562537645 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19590040 19590041 rs181513792 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19590093 19590094 rs548205916 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19590119 19590120 rs752042081 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590145 19590146 rs755474098 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590148 19590149 rs781280134 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590151 19590152 rs748222020 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590172 19590173 rs59331866 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.209388 0.246679 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4413.000000,595.000000, 0.881190,0.118810, maf-5-some-pop 734 chr21 19590231 19590232 rs549525625 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19590242 19590243 rs527710112 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19590280 19590281 rs147081142 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19590309 19590310 rs76434729 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 734 chr21 19590327 19590328 rs554341119 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 7 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19590343 19590344 rs535264724 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19590400 19590401 rs868380897 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19590402 19590403 rs574479649 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19590409 19590410 rs771933190 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590414 19590415 rs78621396 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.052838 0.153711 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4872.000000,136.000000, 0.972843,0.027157, maf-5-some-pop 734 chr21 19590421 19590422 rs568570583 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19590426 19590427 rs536013696 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19590459 19590460 rs369871908 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19590460 19590461 rs116346493 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 155.000000,4853.000000, 0.030950,0.969050, maf-5-some-pop 734 chr21 19590461 19590462 rs533803667 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19590463 19590464 rs775280845 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19590476 19590477 rs115653915 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 6 1000GENOMES,EVA-GONL,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 155.000000,4853.000000, 0.030950,0.969050, maf-5-some-pop 734 chr21 19590522 19590523 rs564190559 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590542 19590543 rs776177256 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590575 19590576 rs576914915 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19590576 19590577 rs35740004 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 10 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM, 2 A,T, 32.000000,4976.000000, 0.006390,0.993610, 734 chr21 19590585 19590586 rs141978384 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19590673 19590674 rs150268951 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19590716 19590717 rs772796980 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590720 19590721 rs186157527 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19590726 19590727 rs761247594 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19590746 19590747 rs373952044 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19590850 19590851 rs762601336 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590863 19590864 rs766848488 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19590865 19590866 rs377326053 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19590874 19590875 rs560052185 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19590903 19590904 rs766729222 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19590904 19590905 rs527572401 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19590925 19590926 rs78151093 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 734 chr21 19590930 19590931 rs542816155 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 5 1000GENOMES,EVA_GENOME_DK,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 C,G, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19590958 19590959 rs191267212 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19590976 19590977 rs550022020 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001596 0.028217 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,T, 2.000000,5004.000000,2.000000, 0.000399,0.999201,0.000399, 734 chr21 19590977 19590978 rs574033692 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 734 chr21 19590997 19590998 rs368320348 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,TISHKOFF, 0 734 chr21 19591006 19591007 rs535696769 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19591055 19591056 rs547991998 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19591111 19591112 rs57214745 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047155 0.14613 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4887.000000,121.000000, 0.975839,0.024161, 734 chr21 19591147 19591148 rs572686685 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19591169 19591170 rs138735676 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 734 chr21 19591173 19591174 rs767946232 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591211 19591212 rs181292775 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19591235 19591236 rs186065982 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19591283 19591284 rs558445101 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19591285 19591286 rs61511808 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 84.000000,4924.000000, 0.016773,0.983227, 734 chr21 19591295 19591296 rs756317913 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591305 19591306 rs2207382 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.367297 0.220775 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 1214.000000,3794.000000, 0.242412,0.757588, maf-5-some-pop 734 chr21 19591315 19591316 rs556014966 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19591355 19591356 rs749453948 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591370 19591371 rs574460611 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19591386 19591387 rs541664047 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19591408 19591409 rs559914725 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19591452 19591453 rs757584437 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591535 19591536 rs146337081 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19591581 19591582 rs779849881 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591628 19591629 rs371854211 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19591641 19591642 rs561978900 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591661 19591662 rs545702776 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19591670 19591671 rs768636306 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591687 19591688 rs372584210 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19591697 19591698 rs564371224 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19591748 19591749 rs776491309 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591780 19591781 rs531630047 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19591812 19591813 rs190939489 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19591855 19591856 rs753018729 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19591894 19591895 rs763312383 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19591926 19591927 rs756295765 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19591939 19591940 rs748092960 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19591940 19591941 rs562073336 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19591968 19591969 rs866822720 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19591975 19591976 rs183180932 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592015 19592016 rs548054567 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19592092 19592093 rs187855067 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592095 19592095 rs779366554 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 734 chr21 19592097 19592098 rs533532724 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592115 19592116 rs552127823 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592130 19592131 rs115348513 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19592165 19592166 rs530941378 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19592234 19592235 rs570309203 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19592251 19592252 rs769230656 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592276 19592277 rs537479657 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592374 19592375 rs556116168 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592419 19592420 rs61678399 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 122.000000,4886.000000, 0.024361,0.975639, 734 chr21 19592426 19592427 rs535179927 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592436 19592437 rs553411532 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592458 19592459 rs866030051 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19592462 19592463 rs550122926 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19592463 19592464 rs570630985 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592466 19592467 rs762548745 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592480 19592481 rs771086298 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592482 19592483 rs571924993 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19592497 19592498 rs765991822 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592504 19592505 rs34746301 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19592523 19592524 rs545565926 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19592550 19592551 rs139589038 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19592557 19592558 rs60189960 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 90.000000,4918.000000, 0.017971,0.982029, maf-5-some-pop 734 chr21 19592566 19592567 rs759882347 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592631 19592632 rs55896997 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.203267 0.245593 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4433.000000,575.000000, 0.885184,0.114816, maf-5-some-pop 734 chr21 19592632 19592633 rs73204812 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592642 19592643 rs757465518 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19592656 19592657 rs562109086 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19592722 19592723 rs190967988 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19592784 19592785 rs74314500 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.180383 0.240111 intron exact 1 11 1000GENOMES,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4506.000000,502.000000, 0.899760,0.100240, maf-5-some-pop 734 chr21 19592833 19592834 rs559860111 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19592858 19592859 rs546360425 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19592861 19592862 rs182757216 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19592878 19592879 rs764227884 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592884 19592885 rs753993519 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19592902 19592903 rs551936824 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19592905 19592906 rs570296211 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19592910 19592911 rs531234061 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19592963 19592964 rs750454802 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19592965 19592966 rs549365997 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19592968 19592969 rs568057706 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19592974 19592975 rs113795875 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 3 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19592980 19592981 rs566428998 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19593012 19593013 rs188406513 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593012 19593012 rs772153428 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA_GENOME_DK, 0 734 chr21 19593022 19593022 rs75523177 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 BGI, 0 734 chr21 19593023 19593023 rs199687379 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 GMI, 0 734 chr21 19593070 19593071 rs73316272 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.139564 0.224285 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 378.000000,4630.000000, 0.075479,0.924521, maf-5-some-pop 734 chr21 19593111 19593112 rs563140810 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19593161 19593162 rs2207380 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.127944 0.218179 intron exact 1 19 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 344.000000,4664.000000, 0.068690,0.931310, maf-5-some-pop 734 chr21 19593162 19593163 rs576303693 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593170 19593171 rs781042666 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19593182 19593183 rs141747055 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19593204 19593205 rs537870267 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593230 19593231 rs574107845 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593263 19593264 rs768301418 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19593274 19593275 rs192910136 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593297 19593298 rs370956664 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19593314 19593315 rs748840905 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19593439 19593440 rs146230717 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19593440 19593441 rs559922221 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593461 19593465 rs774275457 0 + TTCT TTCT -/TTCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19593496 19593497 rs533458334 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593529 19593530 rs545325658 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593559 19593560 rs563910635 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593566 19593567 rs148452334 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19593597 19593598 rs549666880 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593637 19593638 rs773936111 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19593638 19593640 rs542036961 0 + TT TT -/TT genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 1 1000GENOMES, 2 -,TT, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19593653 19593654 rs561217552 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593661 19593662 rs759242395 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19593725 19593726 rs184945926 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593898 19593899 rs546972221 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593910 19593911 rs772260913 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19593911 19593912 rs187815294 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19593917 19593918 rs796703539 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19593924 19593925 rs776029393 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19593941 19593942 rs2824707 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.381308 0.21274 intron exact 1 24 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1284.000000,3724.000000, 0.256390,0.743610, maf-5-some-pop 734 chr21 19593945 19593946 rs376944280 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19593965 19593966 rs142743263 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593968 19593969 rs191549994 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593985 19593986 rs536808713 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593989 19593990 rs151004775 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19593990 19593991 rs573970891 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19593992 19593993 rs11911589 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.109108 0.206518 intron exact 1 12 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4718.000000,290.000000, 0.942093,0.057907, maf-5-some-pop 734 chr21 19593999 19594000 rs11911591 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.109461 0.206758 intron exact 1 13 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4717.000000,291.000000, 0.941893,0.058107, maf-5-some-pop 734 chr21 19594021 19594022 rs578037346 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19594039 19594040 rs545495433 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19594050 19594051 rs772574343 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19594051 19594052 rs77657959 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19594065 19594066 rs144168215 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19594066 19594067 rs183874826 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19594067 19594068 rs753962223 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594101 19594102 rs147803839 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594128 19594129 rs528750033 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19594134 19594135 rs145567495 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594142 19594143 rs761856340 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594152 19594153 rs117671482 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594160 19594161 rs75669040 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 G,T, 4985.000000,23.000000, 0.995407,0.004593, 734 chr21 19594264 19594265 rs760970784 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19594267 19594268 rs551467229 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594278 19594279 rs765371517 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594341 19594342 rs750541257 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594346 19594347 rs569631903 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594356 19594357 rs537289262 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594365 19594366 rs780912438 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594380 19594381 rs374857108 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,SSMP, 2 -,C, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19594411 19594412 rs368029526 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19594423 19594424 rs549191156 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594425 19594426 rs567612833 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19594427 19594428 rs542116126 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19594433 19594434 rs534919489 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594442 19594443 rs752533427 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594448 19594449 rs553263362 0 + A A A/C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19594449 19594450 rs562405751 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19594453 19594454 rs777758374 0 + C C A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 734 chr21 19594488 19594489 rs748785950 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594563 19594564 rs115043812 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 734 chr21 19594570 19594571 rs557297067 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 734 chr21 19594578 19594579 rs149185406 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594612 19594613 rs189333284 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19594616 19594617 rs11908838 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.065214 0.168387 intron exact 1 12 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 169.000000,4839.000000, 0.033746,0.966254, maf-5-some-pop 734 chr21 19594631 19594632 rs775975948 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594666 19594667 rs575633134 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594680 19594681 rs181952782 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594685 19594686 rs561143162 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594688 19594689 rs573052111 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594689 19594690 rs540532007 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19594701 19594702 rs184361928 0 + A A A/G genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 1 1000GENOMES, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 734 chr21 19594746 19594747 rs143411086 0 + A A A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594778 19594779 rs761188663 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594790 19594791 rs148367725 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19594823 19594824 rs531911639 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19594832 19594833 rs79708234 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19594855 19594856 rs530521527 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594856 19594857 rs73893031 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044127 0.141924 intron exact 1 SingleClassTriAllelic 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 2.000000,111.000000,4895.000000, 0.000399,0.022164,0.977436, maf-5-some-pop,maf-5-all-pops 734 chr21 19594886 19594887 rs796509922 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19594924 19594925 rs528261970 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19594926 19594927 rs12386266 0 + C C C/T genomic single by-hapmap,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SC_SNP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19594932 19594933 rs777218466 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19594961 19594962 rs75829226 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 291.000000,4717.000000, 0.058107,0.941893, maf-5-some-pop 734 chr21 19594965 19594966 rs539056840 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19595030 19595031 rs765189126 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595035 19595036 rs190168867 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19595044 19595045 rs773360309 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595066 19595067 rs140532998 0 + C C A/C genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,C, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19595080 19595081 rs145612280 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,T, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19595132 19595133 rs553172794 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19595157 19595158 rs1888407 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.459233 0.136827 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SEQUENOM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3219.000000,1789.000000, 0.642772,0.357228, maf-5-some-pop 734 chr21 19595165 19595166 rs766623784 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595250 19595251 rs181265622 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19595251 19595252 rs186494028 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19595264 19595265 rs750532340 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19595342 19595343 rs189367156 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19595387 19595387 rs576175670 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron between 1 2 1000GENOMES,SSIP, 2 -,A, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19595389 19595390 rs577460962 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19595428 19595429 rs545038227 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19595436 19595437 rs180730860 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19595440 19595441 rs563143399 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19595468 19595469 rs544796460 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19595478 19595479 rs185130763 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19595483 19595484 rs542759725 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19595487 19595488 rs755963956 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595524 19595528 rs758369281 0 + TCAA TCAA -/TCAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19595526 19595527 rs62213413 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 10 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4962.000000,46.000000, 0.990815,0.009185, 734 chr21 19595556 19595557 rs190725953 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19595565 19595568 rs764162207 0 + ATA ATA -/ATA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595628 19595629 rs138325520 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19595643 19595644 rs112807788 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 734 chr21 19595660 19595661 rs753654017 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595672 19595673 rs776639959 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595701 19595702 rs757251999 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595725 19595726 rs564749503 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19595742 19595743 rs73204818 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4850.000000,158.000000, 0.968450,0.031549, maf-5-some-pop 734 chr21 19595752 19595753 rs183239870 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19595761 19595762 rs186937413 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19595780 19595781 rs143422432 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19595817 19595818 rs550804748 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19595883 19595884 rs545324969 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 734 chr21 19595915 19595916 rs535643242 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595924 19595925 rs191733204 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19595929 19595930 rs376589987 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19595947 19595948 rs561267929 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 734 chr21 19595964 19595965 rs769073087 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19595967 19595968 rs566602009 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19595983 19595984 rs534165236 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19596007 19596008 rs777164987 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19596015 19596016 rs368642296 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19596025 19596026 rs577323729 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19596043 19596044 rs748551254 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19596114 19596115 rs113120126 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,G, 122.000000,4886.000000, 0.024361,0.975639, 734 chr21 19596120 19596121 rs770378880 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19596129 19596130 rs372217187 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19596151 19596152 rs538168633 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19596199 19596202 rs564314604 0 + AAT AAT -/AAT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AAT, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19596209 19596210 rs115355572 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4966.000000,42.000000, 0.991613,0.008387, 734 chr21 19596241 19596242 rs113884093 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,BUSHMAN,TISHKOFF, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19596265 19596266 rs540269128 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19596345 19596346 rs60306318 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.274393 0.248807 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4186.000000,822.000000, 0.835863,0.164137, maf-5-some-pop 734 chr21 19596352 19596353 rs537427083 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19596364 19596365 rs151179098 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,T, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19596382 19596383 rs561001589 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19596385 19596386 rs370021962 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19596386 19596387 rs146090141 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19596387 19596388 rs557814281 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19596432 19596433 rs766578621 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19596434 19596435 rs540478548 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19596440 19596440 rs34295036 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19596458 19596459 rs62213414 0 + G G A/C/G genomic single by-cluster 0.5 0 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 BCMHGSC_JDW,ENSEMBL,EVA_DECODE, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19596493 19596494 rs577808679 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19596505 19596506 rs138050390 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19596513 19596514 rs75872670 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19596544 19596545 rs144162329 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19596591 19596595 rs750154554 0 + TGAT TGAT -/TGAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19596630 19596631 rs7276648 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.296619 0.245615 intron exact 1 30 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 907.000000,4101.000000, 0.181110,0.818890, maf-5-some-pop 734 chr21 19596673 19596674 rs548170189 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19596753 19596754 rs58978235 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.224116 0.248656 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4364.000000,644.000000, 0.871406,0.128594, maf-5-some-pop 734 chr21 19596755 19596756 rs753689999 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19596774 19596775 rs373353133 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19596808 19596811 rs765961352 0 + ATT ATT -/ATT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19596808 19596809 rs867930901 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 734 chr21 19596819 19596820 rs868212316 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19596857 19596858 rs115821835 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 124.000000,4884.000000, 0.024760,0.975240, maf-5-some-pop 734 chr21 19596913 19596914 rs552602471 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19596992 19596993 rs148683969 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 734 chr21 19596995 19596996 rs538406885 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19597014 19597015 rs749887804 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19597018 19597019 rs565249930 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19597082 19597083 rs187882653 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19597104 19597105 rs191835908 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19597134 19597135 rs200275649 0 + T T -/T genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19597219 19597220 rs796356438 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19597236 19597237 rs757922130 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19597265 19597266 rs182125324 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19597295 19597296 rs111660775 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,BUSHMAN,TISHKOFF, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19597296 19597297 rs186807610 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19597339 19597340 rs779714363 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19597379 19597380 rs746618148 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19597432 19597433 rs572829816 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19597443 19597444 rs144205082 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19597471 19597472 rs147341896 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19597505 19597506 rs576983726 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19597506 19597507 rs17436458 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 84.000000,4924.000000, 0.016773,0.983227, 734 chr21 19597529 19597530 rs377345922 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,TISHKOFF, 0 734 chr21 19597538 19597539 rs748582750 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19597606 19597607 rs527648398 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19597613 19597614 rs192513007 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19597653 19597654 rs573061884 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 734 chr21 19597677 19597678 rs548036256 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19597752 19597753 rs139445826 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19597758 19597759 rs145182732 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19597759 19597761 rs200791200 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 GMI, 0 734 chr21 19597785 19597786 rs376679230 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19597794 19597795 rs11702805 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 CSHL-HAPMAP, 1 C, 420.000000, 1.000000, 734 chr21 19597816 19597817 rs552412547 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19597830 19597831 rs150953036 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19597895 19597895 rs762073528 0 + - - -/CCAAAG genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19597919 19597920 rs115348324 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 42.000000,4966.000000, 0.008387,0.991613, 734 chr21 19597924 19597925 rs141052292 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19597933 19597934 rs567977178 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 734 chr21 19597950 19597951 rs774447862 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598016 19598017 rs149817553 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19598041 19598042 rs536158009 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19598044 19598046 rs751091384 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598107 19598108 rs554465173 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19598119 19598120 rs759707484 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598126 19598127 rs564182333 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19598129 19598130 rs185710523 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19598170 19598171 rs533165780 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 734 chr21 19598217 19598218 rs776260080 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598221 19598222 rs533752022 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19598228 19598229 rs547389086 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19598247 19598248 rs141246893 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,LUNTER, 2 -,G, 22.000000,4986.000000, 0.004393,0.995607, 734 chr21 19598252 19598253 rs766247095 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19598301 19598302 rs773371691 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19598314 19598315 rs112483758 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,BUSHMAN,TISHKOFF, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 734 chr21 19598322 19598323 rs540283935 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19598346 19598347 rs544117612 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19598371 19598372 rs35751155 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 9 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,PJP,WEILL_CORNELL_DGM, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19598375 19598376 rs750307913 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598447 19598448 rs140694609 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19598448 19598449 rs11911922 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.043347 0.140692 intron exact 1 11 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 111.000000,4897.000000, 0.022164,0.977835, maf-5-some-pop 734 chr21 19598466 19598467 rs866414036 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19598513 19598514 rs559987920 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19598515 19598516 rs555368055 0 + A A G/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 734 chr21 19598523 19598524 rs765935548 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598544 19598545 rs751160456 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598545 19598546 rs527708279 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19598555 19598556 rs536249739 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 734 chr21 19598646 19598647 rs145887753 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19598669 19598670 rs752994378 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598670 19598671 rs192958199 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19598677 19598678 rs569034437 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598690 19598691 rs564465724 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19598704 19598705 rs371257724 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19598795 19598796 rs549958819 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19598797 19598798 rs531684138 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598861 19598862 rs374390717 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 734 chr21 19598862 19598863 rs553376049 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19598904 19598905 rs551385887 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19598933 19598934 rs771452919 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598939 19598940 rs568679142 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19598980 19598983 rs781674235 0 + TAT TAT -/TAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19598987 19598988 rs185371866 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19598994 19598995 rs778942981 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19599013 19599014 rs745987201 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19599047 19599048 rs138262954 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 A,T, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19599159 19599160 rs56099389 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.159292 0.232964 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4571.000000,437.000000, 0.912740,0.087260, maf-5-some-pop 734 chr21 19599210 19599211 rs533585088 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19599214 19599215 rs868636798 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19599242 19599243 rs558514529 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19599249 19599250 rs775723419 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19599266 19599267 rs141198483 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19599267 19599268 rs537958113 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19599271 19599272 rs143308956 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19599272 19599273 rs553555717 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19599278 19599279 rs574316162 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19599293 19599294 rs189424091 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19599395 19599396 rs866811766 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19599406 19599407 rs115391666 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 734 chr21 19599418 19599419 rs59995808 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.099159 0.199366 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4746.000000,262.000000, 0.947684,0.052316, maf-5-some-pop 734 chr21 19599428 19599429 rs148316771 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19599435 19599436 rs545925386 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19599439 19599440 rs75834965 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19599443 19599444 rs772903451 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19599447 19599448 rs141747551 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19599516 19599517 rs112305981 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 G, 1.000000, 1.000000, 734 chr21 19599539 19599540 rs767158763 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19599546 19599547 rs752494614 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19599583 19599584 rs150549990 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19599614 19599615 rs9974529 0 + A A A/C genomic single by-cluster,by-hapmap,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19599627 19599628 rs762958833 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19599639 19599640 rs138939567 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19599645 19599646 rs73316280 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.153665 0.230694 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 420.000000,4588.000000, 0.083866,0.916134, maf-5-some-pop 734 chr21 19599664 19599665 rs566414015 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19599666 19599667 rs751105311 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19599717 19599718 rs533672146 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19599748 19599749 rs181224847 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19599749 19599750 rs184884645 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19599819 19599820 rs537418558 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19599825 19599826 rs549493622 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19599832 19599833 rs777428135 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19599841 19599842 rs142937377 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19599854 19599855 rs535306912 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19599903 19599904 rs554561781 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19599954 19599955 rs574716956 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19599957 19599958 rs374857086 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19600014 19600015 rs766952489 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600058 19600059 rs572097290 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19600091 19600092 rs117882281 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 734 chr21 19600117 19600118 rs867798023 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19600127 19600128 rs557733874 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19600128 19600129 rs756761708 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19600161 19600162 rs576405830 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19600187 19600188 rs755755833 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600208 19600209 rs543815134 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19600212 19600213 rs562195608 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19600216 19600221 rs563807784 0 + AAATA AAATA -/AAATA genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,AAATA, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19600246 19600247 rs574170768 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19600273 19600274 rs555976514 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19600292 19600293 rs559908306 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19600312 19600313 rs8129201 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,PERLEGEN,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19600376 19600377 rs147430736 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19600468 19600469 rs563810179 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19600483 19600484 rs539804009 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19600489 19600490 rs867221374 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19600493 19600494 rs778153081 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600497 19600498 rs575840794 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600501 19600502 rs188320442 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19600518 19600519 rs139490076 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19600536 19600537 rs544465143 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19600575 19600576 rs117211860 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4945.000000,63.000000, 0.987420,0.012580, 734 chr21 19600610 19600611 rs78247221 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.116138 0.211142 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 310.000000,4698.000000, 0.061901,0.938099, maf-5-some-pop 734 chr21 19600642 19600643 rs540248936 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19600660 19600661 rs539228893 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19600670 19600671 rs747203604 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600672 19600672 rs199882949 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron between 1 2 1000GENOMES,GMI, 2 -,T, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19600728 19600729 rs372366860 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19600737 19600738 rs144990943 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19600741 19600742 rs11910578 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.116488 0.211364 intron exact 1 16 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 311.000000,4697.000000, 0.062101,0.937899, maf-5-some-pop 734 chr21 19600756 19600757 rs748541512 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19600807 19600808 rs773109070 0 + C C C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600816 19600817 rs181833867 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 734 chr21 19600833 19600834 rs143963327 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19600834 19600835 rs529417698 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600925 19600926 rs759554698 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19600969 19600970 rs73204820 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 39.000000,4969.000000, 0.007788,0.992212, 734 chr21 19601046 19601047 rs1888408 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.211516 0.24702 intron exact 1 21 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4406.000000,602.000000, 0.879792,0.120208, maf-5-some-pop,genotype-conflict 734 chr21 19601060 19601061 rs559567397 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19601090 19601091 rs142407540 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19601104 19601105 rs545256032 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19601157 19601158 rs867504063 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19601178 19601179 rs75274884 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19601188 19601191 rs548084466 0 + TTG TTG -/TTG genomic deletion by-frequency,by-1000genomes 0.00319 0.039809 intron range 1 1 1000GENOMES, 2 -,TTG, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19601193 19601196 rs368730035 0 + GTT GTT -/GTT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19601247 19601248 rs866197330 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19601249 19601250 rs151310089 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19601265 19601266 rs551653134 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19601299 19601300 rs73893034 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 734 chr21 19601339 19601340 rs139688934 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19601434 19601435 rs766425502 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19601446 19601447 rs763696241 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19601489 19601490 rs187329676 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19601500 19601501 rs571584635 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19601523 19601524 rs192399458 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19601530 19601531 rs774502807 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19601543 19601544 rs144535210 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19601573 19601574 rs10439694 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.316243 0.241064 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4022.000000,986.000000, 0.803115,0.196885, maf-5-some-pop 734 chr21 19601602 19601603 rs533184930 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19601614 19601615 rs547400261 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19601632 19601633 rs750890290 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19601647 19601648 rs752441226 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19601654 19601655 rs551275699 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19601695 19601696 rs569977783 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19601704 19601705 rs758850205 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19601729 19601730 rs146631968 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19601731 19601732 rs780159439 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19601787 19601788 rs555667557 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19601793 19601794 rs73316282 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.085092 0.187897 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 223.000000,4785.000000, 0.044529,0.955471, maf-5-some-pop 734 chr21 19601820 19601821 rs183299880 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19601848 19601848 rs112431374 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.288127 0.247076 intron between 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 4134.000000,874.000000, 0.825479,0.174521, maf-5-some-pop 734 chr21 19601873 19601874 rs553469978 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19601883 19601884 rs755221174 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19601926 19601927 rs187010324 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19601927 19601928 rs545630547 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19601932 19601933 rs781618206 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19601937 19601938 rs116579453 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19601950 19601951 rs575394583 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19601953 19601954 rs753556579 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19601975 19601976 rs141236347 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19601979 19601980 rs11910879 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.207253 0.246318 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4420.000000,588.000000, 0.882588,0.117412, maf-5-some-pop 734 chr21 19601984 19601985 rs528884172 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19602028 19602029 rs555996659 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19602040 19602041 rs774323735 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602050 19602051 rs745772208 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602075 19602076 rs771954668 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602076 19602077 rs778232203 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19602092 19602093 rs775034511 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602132 19602133 rs150186468 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19602135 19602136 rs745392444 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19602140 19602141 rs145764766 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 0 734 chr21 19602174 19602175 rs148944542 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19602188 19602189 rs776208785 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602197 19602198 rs532880206 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19602206 19602209 rs777970026 0 + AAG AAG -/AAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602208 19602209 rs143704642 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19602251 19602252 rs569874596 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19602291 19602292 rs530696664 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19602299 19602300 rs138875565 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19602321 19602322 rs148684268 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,T, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19602359 19602360 rs538072312 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19602362 19602363 rs190062480 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19602363 19602364 rs765536827 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602396 19602397 rs567551893 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19602406 19602407 rs376073089 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19602412 19602413 rs142794493 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 734 chr21 19602413 19602414 rs758905703 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602417 19602418 rs766860130 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602428 19602429 rs567612251 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19602430 19602431 rs751642000 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602454 19602455 rs571572083 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,DDI,PADH-LAB_SPU, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19602497 19602498 rs538768210 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19602525 19602526 rs147013842 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19602577 19602578 rs9984040 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.472052 0.11486 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3096.000000,1912.000000, 0.618211,0.381789, maf-5-some-pop,maf-5-all-pops 734 chr21 19602651 19602652 rs542788697 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19602721 19602722 rs748345133 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19602818 19602819 rs554874791 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19602865 19602866 rs573191982 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19602875 19602876 rs138178408 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19602892 19602893 rs773553441 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19602902 19602903 rs111477501 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19602913 19602914 rs559087863 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19602914 19602936 rs370701979 0 + CAAAGTGAAGGAAATACGAATG CAAAGTGAAGGAAATACGAATG -/CAAAGTGAAGGAAATACGAATG genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19602930 19602931 rs182846049 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19602954 19602955 rs547714149 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19602973 19602986 rs779240928 0 + ATTTCATAAATAT ATTTCATAAATAT -/ATTTCATAAATAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603002 19603003 rs73316283 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, 2 C,G, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19603021 19603022 rs756430120 0 + G G C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603047 19603048 rs186750888 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19603084 19603085 rs530761242 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19603129 19603130 rs191557349 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 734 chr21 19603130 19603131 rs183968689 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19603149 19603150 rs779913826 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603158 19603159 rs746980766 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603175 19603177 rs533912006 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TT, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19603246 19603247 rs201892839 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 -,T, 29.000000,4979.000000, 0.005791,0.994209, 734 chr21 19603248 19603249 rs554184765 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19603253 19603254 rs781251167 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19603261 19603262 rs561216109 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19603295 19603296 rs73316285 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 734 chr21 19603344 19603345 rs150498086 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19603354 19603355 rs73204828 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 214.000000,4794.000000, 0.042732,0.957268, maf-5-some-pop 734 chr21 19603361 19603362 rs558602081 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19603368 19603369 rs774256855 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19603369 19603370 rs538993572 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19603398 19603399 rs73204887 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.087635 0.190099 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 230.000000,4778.000000, 0.045927,0.954073, maf-5-some-pop 734 chr21 19603406 19603407 rs761430145 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603442 19603443 rs568992180 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19603466 19603467 rs193266002 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19603484 19603485 rs867743538 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19603494 19603495 rs554739874 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19603568 19603569 rs73204888 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.078884 0.182262 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4802.000000,206.000000, 0.958866,0.041134, maf-5-some-pop 734 chr21 19603592 19603593 rs770754344 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603593 19603594 rs373449287 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19603594 19603595 rs11909015 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.141934 0.225437 intron exact 1 18 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 385.000000,4623.000000, 0.076877,0.923123, maf-5-some-pop 734 chr21 19603616 19603617 rs763283151 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603620 19603621 rs766775972 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603623 19603624 rs751941508 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603635 19603636 rs8134630 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4980.000000,28.000000, 0.994409,0.005591, 734 chr21 19603641 19603642 rs767660460 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603653 19603654 rs545237132 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19603674 19603675 rs752875445 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603694 19603695 rs544975162 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19603696 19603697 rs756376984 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603702 19603703 rs778208761 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603726 19603727 rs184999546 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19603732 19603733 rs750221925 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19603757 19603758 rs760461606 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19603764 19603765 rs77366866 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 6 1000GENOMES,BUSHMAN,EVA-GONL,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 734 chr21 19603805 19603806 rs139456590 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19603835 19603836 rs561075218 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19603840 19603841 rs151186590 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.077784 0.181223 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP,TISHKOFF, 2 -,C, 203.000000,4805.000000, 0.040535,0.959465, maf-5-some-pop 734 chr21 19603850 19603851 rs528256871 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19603861 19603862 rs77842777 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19603879 19603880 rs149283139 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19603898 19603899 rs575755593 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 -,A, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19603903 19603904 rs144483308 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19603907 19603908 rs764962199 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19603919 19603920 rs749873846 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19603987 19603988 rs768629813 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19604100 19604101 rs757963781 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19604108 19604109 rs780648519 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19604113 19604114 rs532432845 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19604143 19604144 rs188941054 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19604171 19604172 rs569055923 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604180 19604181 rs370457005 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19604202 19604203 rs560901748 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19604203 19604204 rs548235600 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19604244 19604245 rs566965877 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604323 19604324 rs534382785 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604344 19604345 rs559021851 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19604404 19604405 rs529662561 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604406 19604407 rs538685177 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604416 19604417 rs557001798 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604451 19604452 rs191659114 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19604466 19604467 rs184118971 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19604490 19604491 rs769420770 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19604546 19604547 rs28667141 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.438946 0.163706 intron exact 1 21 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3379.000000,1629.000000, 0.674720,0.325280, maf-5-some-pop,maf-5-all-pops 734 chr21 19604551 19604552 rs367995740 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19604552 19604553 rs370786605 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,SSMP, 0 734 chr21 19604646 19604647 rs538033604 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19604660 19604661 rs28436933 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.287085 0.247234 intron exact 1 16 1000GENOMES,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 870.000000,4138.000000, 0.173722,0.826278, maf-5-some-pop,maf-5-all-pops 734 chr21 19604665 19604666 rs73204894 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4812.000000,196.000000, 0.960863,0.039137, maf-5-some-pop 734 chr21 19604670 19604671 rs188076583 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19604813 19604814 rs771163486 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19604831 19604832 rs540405205 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604839 19604840 rs536000398 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19604848 19604849 rs774805238 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19604857 19604858 rs565071782 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19604858 19604859 rs532431595 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604860 19604861 rs544055348 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19604878 19604879 rs562552029 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604884 19604885 rs56177177 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.301681 0.2446 intron exact 1 MixedObserved 7 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_GENOME_DK,HGSV,LUNTER,SSMP, 2 -,G, 927.000000,4081.000000, 0.185104,0.814896, maf-5-some-pop,maf-5-all-pops 734 chr21 19604884 19604886 rs796300609 0 + GG GG A/GG genomic in-del unknown 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 734 chr21 19604885 19604886 rs55809504 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.301681 0.2446 intron exact 1 8 1000GENOMES,BL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 927.000000,4081.000000, 0.185104,0.814896, maf-5-some-pop,maf-5-all-pops 734 chr21 19604890 19604891 rs180764778 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19604904 19604905 rs372631230 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19604934 19604935 rs113098439 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19604945 19604946 rs144368720 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19604947 19604948 rs530253351 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19605003 19605004 rs779245296 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19605079 19605080 rs760100692 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605142 19605143 rs534549490 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605169 19605170 rs146642814 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19605190 19605191 rs556863345 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19605229 19605230 rs867331914 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19605231 19605232 rs200748815 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19605252 19605253 rs549706587 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19605253 19605254 rs111559365 0 + G G A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 734 chr21 19605258 19605259 rs8126630 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 6 1000GENOMES,EVA-GONL,ILLUMINA,ILLUMINA-UK,WEILL_CORNELL_DGM,WI_SSAHASNP, 1 T, 2.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 734 chr21 19605258 19605258 rs752640406 0 + - - -/TA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA_GENOME_DK, 0 734 chr21 19605259 19605261 rs371388519 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.253544 0.249975 intron range 1 5 1000GENOMES,BILGI_BIOE,DDI,GMI,LUNTER, 2 -,AT, 746.000000,4262.000000, 0.148962,0.851038, maf-5-some-pop,maf-5-all-pops 734 chr21 19605278 19605290 rs201807373 0 + TATATATATATG TATATATATATG -/TATATATATATG genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 734 chr21 19605287 19605288 rs35899641 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 734 chr21 19605287 19605288 rs866735271 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 734 chr21 19605288 19605289 rs34510774 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19605289 19605290 rs867495718 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 734 chr21 19605289 19605289 rs3077942 0 + - - -/AT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 TSC-CSHL, 0 734 chr21 19605307 19605308 rs752821884 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605331 19605332 rs573929852 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19605388 19605389 rs184538414 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,SSMP,WARNICH_LAB, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19605439 19605440 rs772207622 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19605443 19605444 rs8132112 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.433963 0.169285 intron exact 1 23 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1594.000000,3414.000000, 0.318291,0.681709, maf-5-some-pop,maf-5-all-pops 734 chr21 19605453 19605454 rs572882237 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19605470 19605471 rs775396189 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19605502 19605503 rs190236104 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19605530 19605531 rs558720505 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19605548 19605549 rs140158758 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19605551 19605552 rs142277391 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19605569 19605570 rs779689190 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605608 19605609 rs182416672 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19605609 19605610 rs760551417 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19605629 19605630 rs751410788 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605632 19605633 rs754904083 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605640 19605641 rs530071123 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19605641 19605642 rs375104017 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19605658 19605659 rs186752662 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19605747 19605748 rs761616 0 - T T A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.280916 0.250397 intron exact 1 SingleClassTriAllelic 18 1000GENOMES,ABI,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 3 A,G,T, 4165.000000,829.000000,14.000000, 0.831669,0.165535,0.002796, maf-5-some-pop,maf-5-all-pops 734 chr21 19605752 19605753 rs781160757 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605784 19605785 rs74658232 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 7 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4950.000000,58.000000, 0.988419,0.011582, maf-5-some-pop 734 chr21 19605790 19605791 rs375061340 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19605791 19605792 rs571042586 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19605794 19605795 rs190804510 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19605829 19605830 rs545200007 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605843 19605846 rs771745544 0 + TTA TTA -/TTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605846 19605847 rs369602721 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19605870 19605871 rs755552412 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605903 19605904 rs777371374 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605904 19605905 rs748845726 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605910 19605911 rs373328295 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19605913 19605914 rs770669140 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605938 19605939 rs774552405 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19605948 19605949 rs550525239 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19605971 19605972 rs377460488 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19605973 19605974 rs181199100 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19605990 19605991 rs140444962 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19605991 19605992 rs565119331 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19605998 19605999 rs34696204 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 ABI, 0 734 chr21 19605998 19605999 rs185802119 0 + T T A/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19605999 19606000 rs113654662 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19606007 19606008 rs78691891 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19606080 19606081 rs558334783 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19606084 19606085 rs572282545 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19606153 19606154 rs190321895 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19606160 19606161 rs776819649 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19606185 19606186 rs543980761 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606189 19606190 rs556080650 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606211 19606212 rs761907738 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19606235 19606236 rs182409083 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19606258 19606259 rs541711666 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19606264 19606265 rs113379978 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19606284 19606285 rs113094000 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.062977 0.165899 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4845.000000,163.000000, 0.967452,0.032548, maf-5-some-pop 734 chr21 19606334 19606335 rs751340925 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19606335 19606336 rs546303759 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19606361 19606362 rs564404955 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606372 19606373 rs541358377 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 -,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19606378 19606379 rs187901946 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19606408 19606410 rs761713125 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19606418 19606419 rs112603337 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.069301 0.172766 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4828.000000,180.000000, 0.964058,0.035942, maf-5-some-pop 734 chr21 19606446 19606447 rs562412640 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606456 19606457 rs529614462 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606458 19606459 rs68190626 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.43088 0.172575 intron exact 1 19 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1573.000000,3435.000000, 0.314097,0.685903, maf-5-some-pop,maf-5-all-pops 734 chr21 19606459 19606460 rs191796644 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19606484 19606485 rs533525338 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19606487 19606488 rs752588530 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 734 chr21 19606488 19606489 rs184232109 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19606500 19606501 rs570204365 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19606530 19606531 rs552191974 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606546 19606547 rs147684150 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 734 chr21 19606553 19606554 rs187318091 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19606582 19606583 rs535759119 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606583 19606584 rs777127882 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19606607 19606608 rs553757096 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606636 19606637 rs76572091 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 734 chr21 19606680 19606681 rs112417038 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 G, 1.000000, 1.000000, 734 chr21 19606687 19606688 rs67283174 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.424503 0.179021 intron exact 1 18 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3477.000000,1531.000000, 0.694289,0.305711, maf-5-some-pop,maf-5-all-pops 734 chr21 19606708 19606709 rs867231508 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19606725 19606729 rs111395642 0 + AGAA AGAA -/AGAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron range 1 3 1000GENOMES,BUSHMAN,LUNTER, 2 -,AGAA, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19606734 19606735 rs141355796 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606779 19606780 rs563022805 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19606781 19606782 rs192219240 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19606799 19606800 rs548051199 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19606863 19606864 rs111791099 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19606869 19606870 rs562274493 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606909 19606910 rs529431685 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19606913 19606914 rs551549889 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19606922 19606923 rs778686299 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19606928 19606929 rs548091783 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19606997 19606998 rs9974351 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.421684 0.181726 intron exact 1 19 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3495.000000,1513.000000, 0.697883,0.302117, maf-5-some-pop,maf-5-all-pops 734 chr21 19607007 19607008 rs527315689 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19607041 19607042 rs772499899 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607052 19607053 rs184414893 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19607057 19607058 rs186884008 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19607058 19607059 rs117268714 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19607079 19607080 rs73316290 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075947 0.179459 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4810.000000,198.000000, 0.960463,0.039537, maf-5-some-pop 734 chr21 19607081 19607082 rs146971127 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19607093 19607094 rs368196053 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19607094 19607095 rs535274588 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19607136 19607137 rs554071989 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19607148 19607149 rs769243809 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607174 19607175 rs9976717 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.418814 0.184396 intron exact 1 19 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3513.000000,1495.000000, 0.701478,0.298522, maf-5-some-pop,maf-5-all-pops 734 chr21 19607186 19607187 rs762009592 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607187 19607188 rs539867670 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19607207 19607208 rs374360598 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19607222 19607223 rs556206577 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19607232 19607233 rs192937565 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19607242 19607243 rs576461764 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19607243 19607244 rs184130343 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19607262 19607263 rs555869392 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19607265 19607266 rs763190973 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607273 19607274 rs574204399 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19607294 19607295 rs778365534 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19607342 19607343 rs867450016 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19607393 19607394 rs541248300 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19607398 19607399 rs754129913 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19607415 19607416 rs567877044 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19607496 19607497 rs536631911 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19607538 19607539 rs560041843 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19607542 19607543 rs9305856 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.298651 0.24522 intron exact 1 21 1000GENOMES,AFFY,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 915.000000,4093.000000, 0.182708,0.817292, maf-5-some-pop 734 chr21 19607551 19607552 rs779000490 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19607566 19607567 rs66529453 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.188316 0.242271 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 527.000000,4481.000000, 0.105232,0.894768, maf-5-some-pop 734 chr21 19607614 19607615 rs563754749 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19607623 19607624 rs531182035 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19607637 19607638 rs752539742 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607699 19607704 rs578059426 0 + AAATT AAATT -/AAATT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,AAATT, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19607710 19607711 rs539097398 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607726 19607727 rs79352635 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 41.000000,4967.000000, 0.008187,0.991813, 734 chr21 19607765 19607769 rs760119851 0 + TGTC TGTC -/TGTC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607783 19607784 rs572180328 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19607799 19607800 rs567801295 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19607816 19607817 rs189652103 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19607905 19607906 rs138209968 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19607915 19607916 rs565819151 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19607942 19607943 rs747125720 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19607980 19607981 rs753278413 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19607994 19607995 rs539358124 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608004 19608005 rs60630713 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4811.000000,197.000000, 0.960663,0.039337, maf-5-some-pop 734 chr21 19608048 19608049 rs570086551 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19608059 19608060 rs537421011 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19608064 19608065 rs76008888 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 4 1000GENOMES,EVA-GONL,GMI,SSMP, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, maf-5-some-pop 734 chr21 19608113 19608114 rs574039629 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608129 19608130 rs541470172 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19608136 19608137 rs78476535 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19608172 19608173 rs182070988 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19608176 19608177 rs778570600 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608179 19608180 rs750058233 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608191 19608192 rs545316681 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19608210 19608211 rs149546463 0 + A A A/G genomic single by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 1 1000GENOMES, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 734 chr21 19608219 19608220 rs367729416 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19608242 19608243 rs143182374 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608276 19608277 rs574951997 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19608281 19608282 rs758148613 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608297 19608298 rs61395998 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.067817 0.1712 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4832.000000,176.000000, 0.964856,0.035144, maf-5-some-pop 734 chr21 19608299 19608300 rs569859721 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19608306 19608307 rs111258031 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19608312 19608313 rs768554448 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19608345 19608346 rs185041695 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19608361 19608362 rs188978146 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19608387 19608388 rs769029688 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608388 19608389 rs9985037 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.294832 0.245947 intron exact 1 14 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 900.000000,4108.000000, 0.179712,0.820288, maf-5-some-pop,maf-5-all-pops 734 chr21 19608402 19608403 rs551726882 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19608404 19608405 rs748604220 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608432 19608433 rs569948138 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19608434 19608435 rs769874140 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608449 19608450 rs537482356 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19608460 19608461 rs9977338 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.401037 0.199218 intron exact 1 17 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 1390.000000,3618.000000, 0.277556,0.722444, maf-5-some-pop,maf-5-all-pops 734 chr21 19608463 19608464 rs181505684 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19608486 19608487 rs769685103 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19608490 19608491 rs534823412 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608509 19608510 rs186145004 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608535 19608536 rs763137439 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608557 19608558 rs376425119 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608573 19608574 rs543404261 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608573 19608577 rs763643401 0 + ACTT ACTT -/ACTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608577 19608578 rs78568625 0 + A A A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19608609 19608610 rs73206907 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.070042 0.173537 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4826.000000,182.000000, 0.963658,0.036342, maf-5-some-pop 734 chr21 19608628 19608629 rs575531643 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19608641 19608642 rs141141375 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608649 19608650 rs146218598 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19608681 19608682 rs760580464 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608692 19608693 rs762625322 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19608700 19608700 rs36078636 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19608709 19608710 rs73893037 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.068189 0.171594 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4831.000000,177.000000, 0.964657,0.035343, maf-5-some-pop 734 chr21 19608731 19608732 rs540788617 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19608763 19608764 rs559377224 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608808 19608809 rs533196021 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608854 19608855 rs551593035 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19608860 19608861 rs763809702 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608871 19608872 rs563619834 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19608875 19608876 rs190083011 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19608888 19608889 rs753742865 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19608915 19608916 rs111436908 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19608936 19608937 rs185938524 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19608978 19608979 rs73316297 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.068931 0.172377 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,G, 4829.000000,179.000000, 0.964257,0.035743, maf-5-some-pop 734 chr21 19608998 19608999 rs191183444 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19609006 19609007 rs571400016 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609009 19609010 rs183788142 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19609010 19609011 rs545444480 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609074 19609075 rs559043959 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19609155 19609156 rs187640116 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19609167 19609168 rs139172463 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19609176 19609177 rs555213859 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19609211 19609212 rs75823765 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19609241 19609242 rs78741535 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4924.000000,84.000000, 0.983227,0.016773, maf-5-some-pop 734 chr21 19609245 19609246 rs559223411 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19609294 19609295 rs73316299 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.048674 0.148216 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 125.000000,4883.000000, 0.024960,0.975040, maf-5-some-pop 734 chr21 19609337 19609338 rs545085566 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19609355 19609356 rs773949676 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19609360 19609361 rs368940962 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,SSMP, 2 -,A, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19609373 19609374 rs112954705 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609412 19609413 rs372999552 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19609415 19609416 rs530696706 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19609432 19609433 rs547654375 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19609440 19609440 rs762376292 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19609442 19609443 rs113441833 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19609468 19609469 rs561223000 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19609483 19609484 rs528519485 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19609486 19609487 rs546973212 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609505 19609506 rs571263163 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19609523 19609524 rs73316301 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.068189 0.171594 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 177.000000,4831.000000, 0.035343,0.964657, maf-5-some-pop 734 chr21 19609554 19609555 rs77076358 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,G, 28.000000,4980.000000, 0.005591,0.994409, 734 chr21 19609580 19609584 rs765743588 0 + CTAT CTAT -/CTAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19609581 19609582 rs8134568 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.397813 0.201621 intron exact 1 21 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1372.000000,3636.000000, 0.273962,0.726038, maf-5-some-pop,maf-5-all-pops 734 chr21 19609592 19609593 rs567923855 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19609598 19609599 rs536830962 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609614 19609615 rs554996274 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19609637 19609638 rs764477971 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19609641 19609642 rs182743011 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19609648 19609649 rs9977296 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.215144 0.247558 intron exact 1 17 1000GENOMES,AFFY,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 614.000000,4394.000000, 0.122604,0.877396, maf-5-some-pop 734 chr21 19609656 19609657 rs552936502 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19609688 19609689 rs577678677 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609700 19609701 rs545146960 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19609735 19609736 rs187397091 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19609742 19609743 rs11909891 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.05246 0.153226 intron exact 1 8 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 734 chr21 19609744 19609745 rs563725204 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19609748 19609749 rs542799613 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609762 19609763 rs561076916 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609763 19609764 rs73893040 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19609765 19609766 rs540117189 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19609784 19609785 rs866165933 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19609831 19609832 rs748637881 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19609841 19609842 rs757550544 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19609868 19609869 rs550507084 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19609895 19609896 rs564950655 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19609900 19609901 rs532341294 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609910 19609911 rs550686934 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19609922 19609923 rs568994126 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19609946 19609947 rs530270620 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609975 19609976 rs548760252 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19609984 19609985 rs566905158 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610005 19610006 rs534524646 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610039 19610040 rs73318203 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.118933 0.212888 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4690.000000,318.000000, 0.936502,0.063498, maf-5-some-pop 734 chr21 19610088 19610089 rs777803116 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610119 19610120 rs749440115 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610124 19610125 rs758794072 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610136 19610137 rs771132498 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610162 19610163 rs7275325 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.314787 0.241459 intron exact 1 20 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4028.000000,980.000000, 0.804313,0.195687, maf-5-some-pop 734 chr21 19610189 19610190 rs538624395 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610196 19610197 rs13047755 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19610198 19610199 rs774502385 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610204 19610205 rs149864512 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19610208 19610209 rs575296530 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610217 19610218 rs73318206 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 155.000000,4853.000000, 0.030950,0.969050, maf-5-some-pop 734 chr21 19610228 19610229 rs554760967 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19610237 19610238 rs572914665 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610238 19610239 rs540539010 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610251 19610252 rs115801955 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 734 chr21 19610252 19610253 rs111475398 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19610307 19610308 rs544190800 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19610426 19610427 rs761788857 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610440 19610441 rs562688027 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19610462 19610463 rs75029795 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.082541 0.185628 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4792.000000,216.000000, 0.956869,0.043131, maf-5-some-pop 734 chr21 19610463 19610464 rs548352853 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19610480 19610481 rs77845597 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 63.000000,4945.000000, 0.012580,0.987420, maf-5-some-pop 734 chr21 19610490 19610491 rs765990786 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610504 19610505 rs866807491 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19610547 19610548 rs78370800 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19610549 19610550 rs552940274 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610576 19610577 rs554514652 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19610582 19610583 rs111684046 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.069672 0.173152 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4827.000000,181.000000, 0.963858,0.036142, maf-5-some-pop 734 chr21 19610593 19610594 rs538687307 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19610655 19610656 rs192704662 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610662 19610663 rs754605869 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610667 19610668 rs767898812 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610671 19610672 rs148517374 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19610675 19610676 rs142765848 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19610678 19610679 rs778313566 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610755 19610756 rs56367548 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.105569 0.204058 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4728.000000,280.000000, 0.944089,0.055911, maf-5-some-pop 734 chr21 19610795 19610796 rs376906907 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19610797 19610798 rs780280849 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610812 19610813 rs76579257 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19610814 19610815 rs147694161 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19610829 19610830 rs111564936 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 734 chr21 19610851 19610851 rs34396295 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19610888 19610889 rs76489225 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 160.000000,4848.000000, 0.031949,0.968051, maf-5-some-pop 734 chr21 19610898 19610899 rs142388783 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19610899 19610900 rs538919525 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19610928 19610929 rs778892186 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610930 19610931 rs544055285 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19610973 19610974 rs746055799 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19610983 19610984 rs772234417 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19611056 19611057 rs2824708 0 + T T A/T genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 T, 418.000000, 1.000000, 734 chr21 19611060 19611061 rs562909901 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19611066 19611067 rs574714128 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19611112 19611113 rs185054739 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611147 19611148 rs796508813 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 734 chr21 19611157 19611158 rs747055997 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19611176 19611177 rs553947481 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19611178 19611179 rs57781755 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.398174 0.201356 intron exact 1 18 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3634.000000,1374.000000, 0.725639,0.274361, maf-5-some-pop,maf-5-all-pops 734 chr21 19611183 19611184 rs112526536 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19611251 19611252 rs769724410 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19611252 19611253 rs75476541 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4848.000000,160.000000, 0.968051,0.031949, maf-5-some-pop 734 chr21 19611282 19611283 rs187552656 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611290 19611291 rs532057050 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19611367 19611368 rs73318210 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19611377 19611378 rs114977580 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,C, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 734 chr21 19611378 19611379 rs867849924 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19611393 19611394 rs535846514 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611406 19611407 rs192768159 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611410 19611411 rs140816018 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19611416 19611417 rs2824709 0 + T T C/T genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 T, 418.000000, 1.000000, 734 chr21 19611439 19611440 rs566433641 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19611441 19611442 rs58541781 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.110167 0.207236 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 293.000000,4715.000000, 0.058506,0.941494, maf-5-some-pop 734 chr21 19611489 19611490 rs558332461 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19611499 19611500 rs183866937 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611505 19611506 rs765935349 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19611508 19611511 rs529416342 0 + AAT AAT -/AAT genomic deletion by-frequency,by-1000genomes 0.008351 0.064078 intron range 1 1 1000GENOMES, 2 -,AAT, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19611529 19611530 rs773778973 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19611539 19611540 rs537763712 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611541 19611542 rs759193760 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19611560 19611561 rs73206915 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.094856 0.196037 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4758.000000,250.000000, 0.950080,0.049920, maf-5-some-pop 734 chr21 19611565 19611566 rs574811455 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19611592 19611593 rs541850353 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611619 19611620 rs150175485 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19611640 19611641 rs572576188 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19611643 19611644 rs767144468 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19611660 19611661 rs546280612 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611669 19611670 rs112732893 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 734 chr21 19611709 19611710 rs753095152 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19611765 19611766 rs531915433 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19611766 19611767 rs528200276 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611809 19611810 rs562226676 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611816 19611817 rs142108799 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.069672 0.173152 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP,TISHKOFF, 2 -,C, 181.000000,4827.000000, 0.036142,0.963858, maf-5-some-pop 734 chr21 19611834 19611835 rs529731774 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611838 19611839 rs61246616 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.396364 0.202676 intron exact 1 18 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1364.000000,3644.000000, 0.272364,0.727636, maf-5-some-pop,maf-5-all-pops 734 chr21 19611862 19611863 rs566416189 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19611863 19611864 rs531710676 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19611877 19611878 rs374122545 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19611912 19611913 rs543573420 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 2 1000GENOMES,SSIP, 2 -,T, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 734 chr21 19611980 19611981 rs551821195 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19611993 19611994 rs754304294 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612025 19612026 rs570341664 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19612042 19612043 rs67879288 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.352504 0.228019 intron exact 1 17 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3864.000000,1144.000000, 0.771565,0.228435, maf-5-some-pop,maf-5-all-pops 734 chr21 19612092 19612093 rs779029764 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612106 19612107 rs2824710 0 + C C C/G genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 C, 418.000000, 1.000000, 734 chr21 19612124 19612125 rs138627414 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19612137 19612138 rs770684271 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19612147 19612148 rs867506418 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19612185 19612186 rs73206919 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.213333 0.247296 intron exact 1 12 1000GENOMES,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4400.000000,608.000000, 0.878594,0.121406, maf-5-some-pop,maf-5-all-pops 734 chr21 19612191 19612192 rs563988759 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19612268 19612269 rs532535201 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19612335 19612336 rs745977607 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612345 19612346 rs375327972 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19612367 19612368 rs535695307 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19612375 19612376 rs12482150 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.01781 0.09267 intron exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,JMKIDD_LAB, 2 A,G, 4963.000000,45.000000, 0.991014,0.008986, maf-5-some-pop 734 chr21 19612376 19612377 rs572440104 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19612398 19612399 rs546343992 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19612410 19612411 rs145195090 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19612411 19612412 rs112260649 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19612427 19612428 rs192538983 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19612430 19612431 rs562450374 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19612447 19612448 rs529562627 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19612537 19612538 rs552633575 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 734 chr21 19612564 19612565 rs56121643 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.105214 0.203807 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 279.000000,4729.000000, 0.055711,0.944289, maf-5-some-pop 734 chr21 19612569 19612570 rs137942636 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19612581 19612583 rs138398649 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.029116 0.117091 intron range 1 MixedObserved 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AT, 74.000000,4934.000000, 0.014776,0.985224, 734 chr21 19612581 19612582 rs184355886 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19612594 19612595 rs762317555 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19612617 19612618 rs757210062 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612637 19612638 rs71319677 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19612654 19612655 rs747237598 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612657 19612658 rs769672255 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612658 19612659 rs569896553 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19612665 19612666 rs551887952 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19612672 19612673 rs570204244 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19612711 19612712 rs773160173 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612730 19612731 rs9976695 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.037988 0.132479 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 97.000000,4911.000000, 0.019369,0.980631, maf-5-some-pop 734 chr21 19612747 19612748 rs555076155 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19612769 19612770 rs142498359 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19612805 19612806 rs536867680 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612835 19612836 rs773905774 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19612842 19612843 rs115768467 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19612879 19612880 rs535402298 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19612902 19612903 rs190420293 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19612951 19612952 rs566109916 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19612999 19613000 rs767070400 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613001 19613002 rs774942875 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613041 19613042 rs539824432 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19613045 19613046 rs558321653 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19613050 19613051 rs556802700 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613070 19613071 rs145969122 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 40.000000,4968.000000, 0.007987,0.992013, 734 chr21 19613074 19613075 rs555690460 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19613091 19613092 rs764394652 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613092 19613093 rs374677063 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19613095 19613096 rs181238440 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19613107 19613108 rs148358734 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19613108 19613109 rs758799541 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19613138 19613139 rs762279157 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613143 19613144 rs571749656 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19613187 19613188 rs186692794 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19613200 19613201 rs765720239 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613206 19613207 rs750952339 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613235 19613236 rs111494677 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 734 chr21 19613242 19613243 rs531317851 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613253 19613254 rs549815948 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19613262 19613263 rs561758491 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613271 19613272 rs11088670 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.219349 0.248114 intron exact 1 15 1000GENOMES,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4380.000000,628.000000, 0.874601,0.125399, maf-5-some-pop,maf-5-all-pops 734 chr21 19613278 19613279 rs547406970 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613279 19613280 rs371278862 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19613349 19613350 rs572882239 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 734 chr21 19613379 19613380 rs79492496 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19613383 19613384 rs373861863 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19613388 19613389 rs551800369 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613392 19613393 rs770890280 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613444 19613445 rs570024128 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613516 19613517 rs778661329 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613565 19613566 rs2207391 0 - T T A/G genomic single by-cluster,by-frequency,by-1000genomes 0.089084 0.191327 intron exact 1 7 1000GENOMES,ABI,EVA-GONL,HAMMER_LAB,ILLUMINA,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4774.000000,234.000000, 0.953275,0.046725, maf-5-some-pop 734 chr21 19613566 19613566 rs774290650 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19613567 19613567 rs34330433 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 GMI, 0 734 chr21 19613574 19613575 rs2207390 0 - A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.084 0.186933 intron exact 1 5 1000GENOMES,ABI,HAMMER_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 220.000000,4788.000000, 0.043930,0.956070, maf-5-some-pop 734 chr21 19613579 19613579 rs397972293 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 734 chr21 19613584 19613585 rs34965138 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19613586 19613587 rs547357656 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 1 1000GENOMES, 2 -,C, 30.000000,4978.000000, 0.005990,0.994010, 734 chr21 19613687 19613688 rs561845126 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613693 19613694 rs574179637 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613708 19613709 rs60319881 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,HGSV, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19613717 19613718 rs575054672 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19613724 19613725 rs189673304 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613731 19613735 rs755167010 0 + GTTA GTTA -/GTTA genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613803 19613804 rs180722824 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19613814 19613815 rs771447573 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613816 19613817 rs775003327 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613820 19613821 rs781264082 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19613839 19613840 rs28497875 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.254105 0.249966 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 18 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 748.000000,4260.000000, 0.149361,0.850639, maf-5-some-pop,maf-5-all-pops 734 chr21 19613849 19613850 rs776978038 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613862 19613863 rs762024181 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613881 19613882 rs58028404 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.103794 0.20279 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 275.000000,4733.000000, 0.054912,0.945088, maf-5-some-pop 734 chr21 19613890 19613891 rs532905289 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19613913 19613914 rs575966860 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19613915 19613916 rs765637922 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613963 19613964 rs117560444 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19613964 19613965 rs371722491 0 + G G A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA-GONL,SSMP, 0 734 chr21 19613967 19613968 rs750854738 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19613975 19613976 rs561810025 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19613976 19613977 rs185115235 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19613978 19613979 rs73206928 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.212122 0.247114 intron exact 1 14 1000GENOMES,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4404.000000,604.000000, 0.879393,0.120607, maf-5-some-pop,maf-5-all-pops 734 chr21 19614041 19614042 rs139384814 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,G, 4970.000000,38.000000, 0.992412,0.007588, 734 chr21 19614042 19614043 rs77632871 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.083635 0.186609 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 219.000000,4789.000000, 0.043730,0.956270, maf-5-some-pop 734 chr21 19614076 19614077 rs755243370 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614087 19614088 rs551666656 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19614093 19614094 rs190721502 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19614111 19614112 rs537431054 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19614112 19614113 rs183452078 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19614171 19614172 rs185839028 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19614172 19614173 rs556813520 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19614187 19614188 rs553161900 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19614190 19614191 rs577782693 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19614231 19614232 rs538970629 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19614249 19614250 rs114727416 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19614313 19614313 rs796754504 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 734 chr21 19614328 19614329 rs372663018 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19614333 19614334 rs543394139 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19614347 19614348 rs555215314 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19614349 19614350 rs115313108 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 734 chr21 19614359 19614360 rs548365260 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614382 19614383 rs568555707 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614392 19614393 rs772096140 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614399 19614400 rs749060747 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19614459 19614460 rs779509197 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614468 19614469 rs9982813 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.216649 0.247765 intron exact 1 18 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4389.000000,619.000000, 0.876398,0.123602, maf-5-some-pop 734 chr21 19614499 19614500 rs550386873 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19614500 19614501 rs370021846 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19614578 19614579 rs558857291 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19614590 19614591 rs570409334 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614627 19614628 rs112280529 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.069672 0.173152 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 181.000000,4827.000000, 0.036142,0.963858, maf-5-some-pop 734 chr21 19614650 19614651 rs746665662 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614654 19614655 rs192027281 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19614657 19614658 rs563583881 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19614670 19614671 rs530856460 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19614671 19614672 rs776198247 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614708 19614709 rs549360446 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19614713 19614714 rs747864877 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614717 19614718 rs11911314 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.065587 0.168795 intron exact 1 9 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4838.000000,170.000000, 0.966054,0.033946, maf-5-some-pop 734 chr21 19614738 19614739 rs561944377 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19614749 19614750 rs57589418 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.104504 0.2033 intron exact 1 5 1000GENOMES,EVA-GONL,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,A, 277.000000,4731.000000, 0.055312,0.944688, maf-5-some-pop 734 chr21 19614756 19614757 rs796970869 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 734 chr21 19614779 19614780 rs182876386 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19614782 19614783 rs535451372 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19614812 19614813 rs377463781 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 734 chr21 19614815 19614816 rs763333584 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19614830 19614831 rs546659886 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19614835 19614866 rs146475003 0 + CAAACTGTGATCTCTGAACTCAGTGATGACC CAAACTGTGATCTCTGAACTCAGTGATGACC lengthTooLong genomic in-del by-cluster,by-frequency,by-1000genomes 0.216349 0.247725 intron range 1 ObservedTooLong 7 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,CAAACTGTGATCTCTGAACTCAGTGATGACC, 618.000000,4390.000000, 0.123403,0.876597, maf-5-some-pop,maf-5-all-pops 734 chr21 19614837 19614868 rs71750507 0 + AACTGTGATCTCTGAACTCAGTGATGACCCA AACTGTGATCTCTGAACTCAGTGATGACCCA lengthTooLong genomic in-del unknown 0 0 intron range 1 MixedObserved,ObservedTooLong 1 TISHKOFF, 0 734 chr21 19614837 19614838 rs374285708 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 734 chr21 19614838 19614839 rs377031832 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19614860 19614861 rs571532596 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19614865 19614866 rs199734589 0 - C C A/G genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 734 chr21 19614888 19614889 rs527759855 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19614924 19614925 rs11911160 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.065587 0.168795 intron exact 1 10 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 170.000000,4838.000000, 0.033946,0.966054, maf-5-some-pop 734 chr21 19614944 19614945 rs557406883 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19614974 19614975 rs555156040 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19614978 19614979 rs569533471 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19614994 19614995 rs575439743 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19615019 19615020 rs759634100 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19615046 19615047 rs544028076 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19615075 19615076 rs145354019 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19615102 19615103 rs74427213 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19615111 19615112 rs553083354 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19615163 19615164 rs188142234 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19615178 19615179 rs116562571 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron,near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4943.000000,65.000000, 0.987021,0.012979, maf-5-some-pop 734 chr21 19615198 19615199 rs115990944 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.057359 0.15934 intron,near-gene-5 exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 148.000000,4860.000000, 0.029553,0.970447, maf-5-some-pop 734 chr21 19615212 19615213 rs750273275 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19615243 19615244 rs530843367 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19615283 19615284 rs73318219 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron,near-gene-5 exact 1 5 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19615312 19615313 rs561354816 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19615335 19615336 rs207477757 0 + G G G/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 734 chr21 19615337 19615338 rs541557100 0 + A A A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 JMKIDD_LAB, 0 734 chr21 19615351 19615352 rs369052869 0 + G G C/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 SSMP, 0 734 chr21 19615407 19615408 rs758265713 0 + C C C/T genomic single by-cluster 0 0 intron,near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19615415 19615416 rs528444014 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19615422 19615423 rs773771446 0 + C C A/C genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA_DECODE, 0 734 chr21 19615440 19615441 rs546721352 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19615468 19615469 rs115637452 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron,near-gene-5 exact 1 6 1000GENOMES,EVA-GONL,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4937.000000,71.000000, 0.985823,0.014177, maf-5-some-pop 734 chr21 19615500 19615501 rs78021235 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.091253 0.193131 intron,near-gene-5 exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 240.000000,4768.000000, 0.047923,0.952077, maf-5-some-pop 734 chr21 19615613 19615614 rs192732583 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19615622 19615623 rs746952145 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19615623 19615624 rs182111432 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19615655 19615656 rs140710913 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19615703 19615704 rs73318220 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron,near-gene-5 exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19615704 19615705 rs567300254 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19615719 19615720 rs754443523 0 + G G A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19615739 19615740 rs780701805 0 + A A A/C genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19615744 19615745 rs766668868 0 + C C A/C genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA_DECODE, 0 734 chr21 19615746 19615747 rs747733218 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19615777 19615778 rs60696598 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.414905 0.187899 intron,near-gene-5 exact 1 19 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3537.000000,1471.000000, 0.706270,0.293730, maf-5-some-pop 734 chr21 19615786 19615787 rs569890087 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron,near-gene-5 exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19615822 19615823 rs73893042 0 + A A A/G genomic single unknown 0.5 0 intron,near-gene-5 exact 1 1 ILLUMINA-UK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19615852 19615853 rs78109468 0 + T T A/T genomic single unknown 0.5 0 intron,near-gene-5 exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19615857 19615858 rs76176207 0 + A A A/T genomic single unknown 0.5 0 intron,near-gene-5 exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19615864 19615865 rs201504972 0 + T T -/T genomic deletion by-cluster 0 0 intron,near-gene-5 exact 1 DuplicateObserved 2 BILGI_BIOE,GMI, 0 734 chr21 19615864 19615864 rs113607712 0 + - - -/T genomic insertion unknown 0 0 intron,near-gene-5 between 1 DuplicateObserved,SingleAlleleFreq 1 BUSHMAN, 1 T, 2.000000, 1.000000, 734 chr21 19615869 19615869 rs549371405 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.007955 0.062565 intron,near-gene-5 between 1 1 1000GENOMES, 2 -,C, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19615875 19615876 rs200877065 0 + T T G/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 GMI, 0 734 chr21 19615878 19615878 rs143792713 0 + - - -/T genomic insertion unknown 0 0 intron,near-gene-5 between 1 1 GMI, 0 734 chr21 19615897 19615898 rs750187665 0 + C C -/C genomic deletion unknown 0 0 intron,near-gene-5 exact 1 1 SSMP, 0 734 chr21 19615939 19615940 rs577814987 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19615991 19615992 rs2406169 0 + A A A/C/T genomic single by-cluster,by-hapmap 0 0 intron,near-gene-5 exact 1 SingleClassTriAllelic,SingleAlleleFreq 6 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TSC-CSHL, 1 A, 418.000000, 1.000000, 734 chr21 19616006 19616007 rs566002603 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 SSIP, 0 734 chr21 19616071 19616072 rs749717576 0 + T T C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616119 19616120 rs771434095 0 + C C A/C genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616129 19616130 rs774935051 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616140 19616141 rs148936460 0 + C C -/C genomic deletion by-cluster,by-1000genomes 0.008351 0.064078 intron,near-gene-5 exact 1 2 1000GENOMES,LUNTER, 2 -,C, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19616142 19616143 rs774243313 0 + C C -/C genomic deletion unknown 0 0 intron,near-gene-5 exact 1 1 TISHKOFF, 0 734 chr21 19616192 19616193 rs760152134 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616272 19616273 rs767656496 0 + T T C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616303 19616304 rs775688702 0 + A A A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616335 19616336 rs147899039 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19616341 19616342 rs557133661 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19616356 19616357 rs760780975 0 + A A A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616382 19616383 rs575316473 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19616394 19616395 rs368414156 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron,near-gene-5 exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19616395 19616396 rs561006955 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19616420 19616421 rs186804150 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 734 chr21 19616457 19616458 rs377296694 0 + G G C/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 SSMP, 0 734 chr21 19616463 19616464 rs764446919 0 + C C A/C genomic single by-cluster 0 0 intron,near-gene-5 exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616474 19616475 rs750173815 0 + G G G/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616492 19616493 rs117099688 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron,near-gene-5 exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19616551 19616552 rs548934572 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron,near-gene-5 exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19616557 19616558 rs116165523 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19616580 19616581 rs766189913 0 + G G A/G genomic single by-cluster 0 0 intron,near-gene-5 exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 734 chr21 19616594 19616595 rs550765045 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19616620 19616621 rs149089460 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5 exact 1 2 1000GENOMES,GMI, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19616643 19616644 rs199718796 0 - C C A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 1 ILLUMINA, 0 734 chr21 19616666 19616667 rs370856860 0 + A A A/C genomic single unknown 0 0 intron,near-gene-5 exact 1 1 SSMP, 0 734 chr21 19616673 19616674 rs530955508 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5 exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19616705 19616706 rs550350042 0 + A A A/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA-GONL, 0 734 chr21 19616709 19616710 rs754953872 0 + T T C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616726 19616727 rs548899704 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19616751 19616752 rs34716562 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron,near-gene-5 exact 1 10 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,WEILL_CORNELL_DGM, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19616815 19616816 rs534652488 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19616840 19616841 rs546627802 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5 exact 1 3 1000GENOMES,DDI,PADH-LAB_SPU, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19616849 19616850 rs747760524 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616912 19616913 rs761356108 0 + A A -/A genomic deletion by-cluster 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616945 19616946 rs755706922 0 + G G A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19616954 19616968 rs535193589 0 + GAGGGGACAGGGAG GAGGGGACAGGGAG -/GAGGGGACAGGGAG genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron,near-gene-5 range 1 1 1000GENOMES, 2 -,GAGGGGACAGGGAG, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19616977 19616978 rs185070945 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19616986 19616987 rs189921339 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19616989 19616990 rs556757449 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19617106 19617107 rs575428322 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19617120 19617121 rs536047443 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617131 19617132 rs142152153 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron,near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19617138 19617139 rs771383332 0 + G G A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19617147 19617148 rs572807789 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617151 19617151 rs143647280 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron,near-gene-5,untranslated-5 between 1 2 1000GENOMES,LUNTER, 2 -,T, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19617176 19617177 rs540099175 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron,near-gene-5,untranslated-5 exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19617185 19617186 rs564955344 0 + C C A/C/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5,untranslated-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617189 19617190 rs867185662 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5,untranslated-5 exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19617207 19617208 rs576799906 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5,untranslated-5 exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19617215 19617216 rs544721833 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5,untranslated-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617225 19617226 rs375338399 0 + C C C/G genomic single unknown 0 0 intron,near-gene-5,untranslated-5 exact 1 1 SSMP, 0 734 chr21 19617245 19617246 rs116658531 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 intron,near-gene-5,untranslated-5 exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, 734 chr21 19617252 19617253 rs376394215 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron,near-gene-5,untranslated-5 exact 1 2 1000GENOMES,SSMP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19617261 19617262 rs548494578 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5,untranslated-5 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19617277 19617278 rs560627799 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron,near-gene-5,untranslated-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19617296 19617296 rs564836614 0 + - - -/C genomic insertion unknown 0 0 intron,near-gene-5,untranslated-5 between 1 1 SSIP, 0 734 chr21 19617319 19617320 rs528007345 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5,untranslated-5 exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19617359 19617360 rs73318224 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.092696 0.194308 intron,near-gene-5,untranslated-5 exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 244.000000,4764.000000, 0.048722,0.951278, maf-5-some-pop 734 chr21 19617369 19617370 rs535085471 0 + G G A/G genomic single by-cluster 0 0 intron,near-gene-5,untranslated-5 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19617390 19617391 rs371132523 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5,untranslated-5 exact 1 2 1000GENOMES,SSMP, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19617399 19617400 rs538239174 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron,near-gene-5,untranslated-5 exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19617405 19617406 rs550690105 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5,untranslated-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617418 19617419 rs372705493 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron,near-gene-5,untranslated-5 exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19617419 19617420 rs374522567 0 + G G C/G genomic single unknown 0 0 intron,near-gene-5,untranslated-5 exact 1 1 TISHKOFF, 0 734 chr21 19617504 19617505 rs193056274 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000223 0.010563 intron,near-gene-5,untranslated-5 exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 13963.000000,3.000000, 0.999785,0.000215, 734 chr21 19617510 19617511 rs754372978 0 + C C A/C genomic single unknown 0.000216 0.010391 intron,near-gene-5,untranslated-5 exact 1 1 EVA_EXAC, 2 A,C, 1.000000,9255.000000, 0.000108,0.999892, 734 chr21 19617533 19617534 rs554355725 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5,untranslated-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617536 19617537 rs757790097 0 + C C C/T genomic single unknown 0.000198 0.009955 intron,near-gene-5,untranslated-5 exact 1 1 EVA_EXAC, 2 C,T, 10085.000000,1.000000, 0.999901,0.000099, 734 chr21 19617546 19617547 rs765608322 0 + C C C/T genomic single unknown 0.000193 0.009822 intron,near-gene-5,missense exact 1 1 EVA_EXAC, 2 C,T, 10359.000000,1.000000, 0.999904,0.000097, 734 chr21 19617554 19617555 rs750825804 0 + C C C/T genomic single unknown 0.000191 0.009773 coding-synon,intron,near-gene-5 exact 1 1 EVA_EXAC, 2 C,T, 10465.000000,1.000000, 0.999904,0.000096, 734 chr21 19617556 19617557 rs758800399 0 + C C C/T genomic single by-frequency 0.000097 0.006962 intron,near-gene-5,missense exact 1 1 EVA_EXAC, 2 C,T, 61877.000000,3.000000, 0.999952,0.000048, 734 chr21 19617573 19617574 rs566298933 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5,missense exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19617588 19617589 rs779898486 0 + C C C/G genomic single unknown 0.000192 0.009806 intron,near-gene-5,missense exact 1 1 EVA_EXAC, 2 C,G, 10393.000000,1.000000, 0.999904,0.000096, 734 chr21 19617700 19617701 rs368764785 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617713 19617714 rs185236455 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617721 19617722 rs114592090 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron,near-gene-5 exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 4951.000000,57.000000, 0.988618,0.011382, maf-5-some-pop 734 chr21 19617737 19617738 rs115274261 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron,near-gene-5 exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4908.000000,100.000000, 0.980032,0.019968, maf-5-some-pop 734 chr21 19617754 19617755 rs151223142 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron,near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19617774 19617777 rs138183397 0 + CTC CTC -/CTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron,near-gene-5 range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,LUNTER, 2 -,CTC, 51.000000,4957.000000, 0.010184,0.989816, 734 chr21 19617780 19617781 rs574840983 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19617800 19617801 rs542275489 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19617801 19617802 rs140360243 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron,near-gene-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19617825 19617826 rs527863190 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617933 19617934 rs112278777 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron,near-gene-5 exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19617950 19617951 rs564758594 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19617971 19617972 rs181213627 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19617989 19617990 rs550306097 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19618016 19618017 rs568797688 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19618042 19618043 rs112538589 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.053216 0.154195 intron,near-gene-5 exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 137.000000,4871.000000, 0.027356,0.972644, maf-5-some-pop 734 chr21 19618098 19618099 rs185078393 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron,near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19618116 19618117 rs766136261 0 + A A A/G genomic single unknown 0 0 intron,near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19618119 19618120 rs188324045 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19618140 19618141 rs533723758 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron,near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19618187 19618188 rs577484944 0 + C C C/T genomic single unknown 0 0 intron,near-gene-5 exact 1 1 EVA-GONL, 0 734 chr21 19618202 19618203 rs558464359 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19618246 19618247 rs570652640 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,untranslated-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19618251 19618252 rs8129789 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.003161 0.039628 intron,untranslated-5 exact 1 8 1000GENOMES,EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 92.000000,15656.000000, 0.005842,0.994158, maf-5-some-pop 734 chr21 19618260 19618261 rs8129796 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003159 0.039617 intron,untranslated-5 exact 1 8 1000GENOMES,EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 92.000000,15662.000000, 0.005840,0.994160, maf-5-some-pop 734 chr21 19618261 19618262 rs8129797 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003159 0.039617 intron,untranslated-5 exact 1 9 1000GENOMES,EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 93.000000,15661.000000, 0.005903,0.994097, maf-5-some-pop 734 chr21 19618271 19618272 rs759935109 0 + C C A/C genomic single unknown 0 0 intron,missense exact 1 1 DDI, 0 734 chr21 19618273 19618274 rs542368938 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron,missense exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19618279 19618280 rs554291404 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron,missense exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19618287 19618287 rs770453363 0 + - - -/TAGGTGCACAAT genomic insertion by-cluster 0 0 intron,splice-5 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19618288 19618289 rs747553502 0 + A A A/C genomic single unknown 0.000131 0.008078 intron exact 1 1 EVA_EXAC, 2 A,C, 15317.000000,1.000000, 0.999935,0.000065, 734 chr21 19618289 19618290 rs769792407 0 + G G G/T genomic single unknown 0.000186 0.009644 intron exact 1 1 EVA_EXAC, 2 G,T, 10745.000000,1.000000, 0.999907,0.000093, 734 chr21 19618297 19618298 rs76025562 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004271 0.046012 intron exact 1 8 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 15532.000000,224.000000, 0.985783,0.014217, maf-5-some-pop 734 chr21 19618320 19618321 rs9980998 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19618328 19618329 rs8130922 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.005017 0.049834 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_EXAC,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 15577.000000,167.000000, 0.989393,0.010607, maf-5-some-pop 734 chr21 19618340 19618341 rs564653345 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19618349 19618350 rs531919580 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19618395 19618396 rs755582172 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19618398 19618399 rs145550037 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19618402 19618403 rs75025284 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 200.000000,4808.000000, 0.039936,0.960064, maf-5-some-pop 734 chr21 19618470 19618471 rs74889189 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.099516 0.199636 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4745.000000,263.000000, 0.947484,0.052516, maf-5-some-pop 734 chr21 19618476 19618477 rs561784143 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19618485 19618486 rs530821187 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19618524 19618525 rs779390028 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19618561 19618562 rs71318134 0 + A A -/A genomic deletion unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19618602 19618603 rs563294334 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.011398 0.074626 intron exact 1 DuplicateObserved 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 28.000000,4857.000000, 0.005732,0.994268, 734 chr21 19618602 19618602 rs142874605 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 DuplicateObserved 2 1000GENOMES,LUNTER, 0 734 chr21 19618603 19618603 rs542730876 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.048178 0.147539 intron between 1 1 1000GENOMES, 2 -,T, 4857.000000,123.000000, 0.975301,0.024699, maf-5-some-pop 734 chr21 19618609 19618609 rs5842678 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19618629 19618630 rs547918149 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19618649 19618650 rs137909855 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19618658 19618659 rs772696037 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19618687 19618688 rs181834731 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19618693 19618694 rs370064202 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19618697 19618698 rs140780185 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19618749 19618750 rs570586169 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19618763 19618764 rs187593393 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19618773 19618774 rs537771407 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19618814 19618815 rs373210803 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19618825 19618826 rs568396332 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19618827 19618828 rs192029206 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19618828 19618829 rs115272885 0 + T T A/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 A,T, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19618844 19618845 rs34665884 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19618875 19618876 rs572572036 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19618907 19618908 rs979456 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.062604 0.165477 intron exact 1 12 1000GENOMES,ABI,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 734 chr21 19618916 19618917 rs183511299 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19618920 19618921 rs374054895 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19618922 19618923 rs144710727 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 734 chr21 19618934 19618935 rs80208643 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 9 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 57.000000,4951.000000, 0.011382,0.988618, 734 chr21 19618998 19618999 rs562393161 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19619010 19619011 rs138425508 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19619011 19619012 rs546803845 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19619029 19619030 rs534552595 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19619072 19619073 rs559672774 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19619128 19619129 rs527395304 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19619140 19619141 rs770069141 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619151 19619152 rs774118578 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619152 19619153 rs552221303 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19619180 19619181 rs73318226 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.133435 0.221162 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 360.000000,4648.000000, 0.071885,0.928115, maf-5-some-pop 734 chr21 19619248 19619249 rs529228270 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19619271 19619272 rs370760042 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19619285 19619286 rs549309434 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19619309 19619313 rs202157511 0 + TTAG TTAG -/TTAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron range 1 2 1000GENOMES,EVA_DECODE, 2 -,TTAG, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19619397 19619398 rs554560650 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19619460 19619461 rs549846315 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19619476 19619477 rs568339124 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19619479 19619480 rs752641427 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619489 19619490 rs760553133 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619498 19619499 rs763637675 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619512 19619513 rs116652762 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 734 chr21 19619549 19619550 rs547818191 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19619596 19619597 rs566042315 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19619608 19619609 rs539963575 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19619609 19619610 rs768105540 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19619629 19619630 rs2406170 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.104859 0.203554 intron exact 1 10 1000GENOMES,ABI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 278.000000,4730.000000, 0.055511,0.944489, maf-5-some-pop 734 chr21 19619636 19619637 rs368627327 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19619644 19619645 rs537861637 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619671 19619672 rs149404235 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19619671 19619674 rs761756512 0 + ACA ACA -/ACA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619690 19619691 rs548990446 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19619717 19619718 rs750117318 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619718 19619719 rs573999531 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19619751 19619752 rs367705735 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19619754 19619755 rs2897337 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.13446 0.221699 intron exact 1 10 1000GENOMES,ABI,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 363.000000,4645.000000, 0.072484,0.927516, maf-5-some-pop 734 chr21 19619762 19619763 rs2406171 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.13446 0.221699 intron exact 1 10 1000GENOMES,ABI,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 4645.000000,363.000000, 0.927516,0.072484, maf-5-some-pop 734 chr21 19619779 19619780 rs371997527 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19619792 19619793 rs767301200 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19619803 19619805 rs539623924 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619811 19619812 rs551002705 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19619817 19619818 rs747526071 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19619842 19619843 rs2406172 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.368324 0.220226 intron exact 1 18 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3789.000000,1219.000000, 0.756589,0.243411, maf-5-some-pop,maf-5-all-pops 734 chr21 19619847 19619848 rs564197284 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19619854 19619855 rs2406173 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.062977 0.165899 intron exact 1 7 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 734 chr21 19619880 19619881 rs549949096 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19619899 19619900 rs771457222 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19620004 19620005 rs144763649 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19620009 19620010 rs2897338 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.13446 0.221699 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 363.000000,4645.000000, 0.072484,0.927516, maf-5-some-pop 734 chr21 19620045 19620046 rs543553336 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,DDI,SSIP, 2 A,C, 4993.000000,15.000000, 0.997005,0.002995, 734 chr21 19620059 19620060 rs566109935 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19620079 19620080 rs148136982 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF, 2 A,C, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19620089 19620090 rs555641454 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19620120 19620121 rs186783110 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19620133 19620134 rs190048606 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19620164 19620165 rs182838605 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19620165 19620166 rs186754907 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19620167 19620168 rs771852932 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19620211 19620212 rs191558996 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19620228 19620229 rs760631510 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19620234 19620235 rs144143381 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19620248 19620249 rs544235461 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 734 chr21 19620260 19620261 rs182376102 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19620278 19620279 rs764005281 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19620324 19620325 rs571747631 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19620326 19620326 rs576683540 0 + - - -/T/TT/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.103843 0.206695 intron between 1 InconsistentAlleles 2 1000GENOMES,SSIP, 3 -,TT,TTT, 4736.000000,203.000000,69.000000, 0.945687,0.040535,0.013778, rs-cluster-nonoverlapping-alleles 734 chr21 19620338 19620338 rs3077959 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 2 ABI,TSC-CSHL, 0 734 chr21 19620346 19620347 rs545779677 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19620372 19620373 rs557419357 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19620403 19620404 rs564221746 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19620418 19620419 rs2207389 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.074106 0.177655 intron exact 1 11 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,KRIBB_YJKIM,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 193.000000,4815.000000, 0.038538,0.961462, maf-5-some-pop 734 chr21 19620439 19620440 rs375200419 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19620465 19620466 rs75607043 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19620515 19620518 rs553023094 0 + TCT TCT -/TCT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TCT, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19620538 19620539 rs561883847 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19620546 19620547 rs556461694 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,DDI,SSIP, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19620586 19620587 rs541375146 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19620592 19620593 rs2207388 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.134119 0.221521 intron exact 1 9 1000GENOMES,ABI,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4646.000000,362.000000, 0.927716,0.072284, maf-5-some-pop 734 chr21 19620695 19620696 rs533219480 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19620707 19620708 rs371926220 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19620729 19620730 rs377153625 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19620730 19620731 rs569912440 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19620816 19620817 rs73318232 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 intron exact 1 4 1000GENOMES,EVA-GONL,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 167.000000,4841.000000, 0.033347,0.966653, maf-5-some-pop 734 chr21 19620831 19620832 rs549038365 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19620835 19620836 rs750044043 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19620838 19620839 rs556075964 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19620889 19620890 rs567553467 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19620901 19620901 rs534470680 0 + - - -/TA genomic insertion by-frequency,by-1000genomes 0.03337 0.124785 intron between 1 1 1000GENOMES, 2 -,TA, 4923.000000,85.000000, 0.983027,0.016973, maf-5-some-pop 734 chr21 19620902 19620903 rs13046215 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.074475 0.178019 intron exact 1 4 1000GENOMES,ENSEMBL,SSAHASNP,WEILL_CORNELL_DGM, 2 A,T, 4814.000000,194.000000, 0.961262,0.038738, maf-5-some-pop 734 chr21 19620939 19620939 rs200337224 0 + - - -/AT genomic insertion by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 intron between 1 1 1000GENOMES, 2 -,AT, 4838.000000,170.000000, 0.966054,0.033946, maf-5-some-pop 734 chr21 19620968 19620969 rs188921188 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19620972 19620973 rs867219482 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19620973 19620975 rs35249596 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.037988 0.132479 intron range 1 1 1000GENOMES, 2 -,AT, 97.000000,4911.000000, 0.019369,0.980631, maf-5-some-pop 734 chr21 19620979 19620981 rs397866697 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 ABI, 0 734 chr21 19620987 19620988 rs13049370 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19620988 19620989 rs13046312 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621003 19621004 rs193108336 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 113.000000,4895.000000, 0.022564,0.977436, maf-5-some-pop 734 chr21 19621010 19621011 rs28473148 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621011 19621013 rs542647010 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.01388 0.082142 intron range 1 1 1000GENOMES, 2 -,AT, 35.000000,4973.000000, 0.006989,0.993011, 734 chr21 19621012 19621013 rs868294124 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19621021 19621022 rs560253313 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19621026 19621027 rs13046323 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 5 1000GENOMES,EVA-GONL,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 0 734 chr21 19621026 19621026 rs199622783 0 + - - -/AT genomic insertion by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron between 1 MixedObserved 1 1000GENOMES, 2 -,AT, 4950.000000,58.000000, 0.988419,0.011582, 734 chr21 19621032 19621033 rs28685823 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621033 19621034 rs28580350 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621044 19621045 rs150857452 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 734 chr21 19621049 19621049 rs565454301 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 1 1000GENOMES, 2 -,C, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19621055 19621056 rs28565567 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621056 19621057 rs13049477 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621057 19621058 rs28540366 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621058 19621058 rs551219417 0 + - - -/TA genomic insertion by-frequency,by-1000genomes 0.070042 0.173537 intron between 1 1 1000GENOMES, 2 -,TA, 4826.000000,182.000000, 0.963658,0.036342, maf-5-some-pop 734 chr21 19621059 19621060 rs575917274 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19621069 19621070 rs28547238 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19621079 19621080 rs543534802 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19621152 19621153 rs188575155 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 734 chr21 19621228 19621229 rs573925924 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19621234 19621235 rs191651312 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 734 chr21 19621239 19621240 rs559543793 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19621288 19621289 rs184119198 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 734 chr21 19621324 19621325 rs188074505 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.043552 0.140994 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4785.000000,109.000000, 0.977728,0.022272, maf-5-some-pop 734 chr21 19621325 19621326 rs8128753 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WI_SSAHASNP, 0 734 chr21 19621325 19621325 rs530058700 0 + - - -/AT genomic insertion by-frequency,by-1000genomes 0.045457 0.143744 intron between 1 1 1000GENOMES, 2 -,AT, 4785.000000,114.000000, 0.976730,0.023270, maf-5-some-pop 734 chr21 19621326 19621327 rs8132384 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WI_SSAHASNP, 0 734 chr21 19621332 19621333 rs200669259 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.099516 0.199636 intron exact 1 1 1000GENOMES, 2 -,T, 263.000000,4745.000000, 0.052516,0.947484, maf-5-some-pop 734 chr21 19621332 19621332 rs35373711 0 + - - -/TA genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19621333 19621333 rs201938289 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.099159 0.199366 intron between 1 2 1000GENOMES,SSMP, 2 -,A, 4746.000000,262.000000, 0.947684,0.052316, maf-5-some-pop 734 chr21 19621350 19621351 rs563724434 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 63.000000,4945.000000, 0.012580,0.987420, 734 chr21 19621360 19621362 rs536869812 0 + TA TA -/TA genomic deletion by-frequency,by-1000genomes 0.003588 0.042202 intron range 1 1 1000GENOMES, 2 -,TA, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19621386 19621387 rs866195699 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19621391 19621392 rs530796361 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19621391 19621395 rs542982184 0 + ATAT ATAT -/ATAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.003994 0.044507 intron range 1 MixedObserved 2 1000GENOMES,PADH-LAB_SPU, 2 -,ATAT, 10.000000,4988.000000, 0.002001,0.997999, 734 chr21 19621391 19621393 rs781674318 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 DDI, 0 734 chr21 19621392 19621393 rs549105614 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19621393 19621395 rs572903550 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.003994 0.044507 intron range 1 1 1000GENOMES, 2 -,AT, 10.000000,4988.000000, 0.002001,0.997999, 734 chr21 19621407 19621409 rs564843829 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.034168 0.12616 intron range 1 1 1000GENOMES, 2 -,AT, 87.000000,4917.000000, 0.017386,0.982614, 734 chr21 19621408 19621409 rs561044098 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19621409 19621409 rs544484098 0 + - - -/AT genomic insertion by-frequency,by-1000genomes 0.001624 0.028452 intron between 1 1 1000GENOMES, 2 -,AT, 4917.000000,4.000000, 0.999187,0.000813, 734 chr21 19621423 19621425 rs530319825 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.028341 0.115616 intron range 1 1 1000GENOMES, 2 -,AT, 72.000000,4936.000000, 0.014377,0.985623, 734 chr21 19621432 19621433 rs866881352 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19621442 19621443 rs79010587 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 intron exact 1 3 1000GENOMES,ENSEMBL,WEILL_CORNELL_DGM, 2 C,T, 4811.000000,197.000000, 0.960663,0.039337, maf-5-some-pop 734 chr21 19621473 19621474 rs34095315 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron exact 1 4 1000GENOMES,ABI,ENSEMBL,WEILL_CORNELL_DGM, 2 A,G, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 734 chr21 19621489 19621490 rs8128513 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 intron exact 1 4 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 4931.000000,77.000000, 0.984625,0.015375, maf-5-some-pop 734 chr21 19621494 19621495 rs180733829 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19621500 19621501 rs572815378 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19621516 19621517 rs114453243 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 734 chr21 19621517 19621518 rs73206932 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19621550 19621551 rs368116844 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19621565 19621566 rs372784449 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19621624 19621625 rs534972999 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19621640 19621641 rs376372683 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19621668 19621669 rs116450619 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 734 chr21 19621682 19621683 rs571251400 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19621725 19621726 rs573785965 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19621741 19621742 rs766731073 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19621747 19621748 rs60993879 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 7 1000GENOMES,EVA_DECODE,HAMMER_LAB,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 734 chr21 19621754 19621755 rs145586579 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19621774 19621775 rs114414097 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 734 chr21 19621776 19621777 rs184401193 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19621815 19621816 rs190460217 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,MPI_MOLGEN, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19621846 19621847 rs751931389 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19621849 19621850 rs182123659 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19621899 19621900 rs868362332 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19621944 19621945 rs576193310 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19621964 19621965 rs8133342 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 734 chr21 19622006 19622007 rs755497088 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19622011 19622012 rs8129790 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 4846.000000,162.000000, 0.967652,0.032348, maf-5-some-pop 734 chr21 19622034 19622035 rs139305177 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19622060 19622061 rs78112207 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,T, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 734 chr21 19622084 19622085 rs757223022 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19622096 19622097 rs748656990 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19622117 19622118 rs58455478 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 HGSV, 0 734 chr21 19622131 19622132 rs144165684 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19622144 19622145 rs111269150 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622150 19622151 rs551299124 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19622157 19622158 rs569450188 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19622160 19622161 rs146513399 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19622166 19622167 rs549009211 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622200 19622201 rs545216226 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19622203 19622204 rs534731340 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622249 19622250 rs552772222 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19622251 19622252 rs73318238 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.134802 0.221877 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 364.000000,4644.000000, 0.072684,0.927316, maf-5-some-pop 734 chr21 19622276 19622277 rs749506047 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19622291 19622292 rs115491603 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4807.000000,201.000000, 0.959864,0.040136, maf-5-some-pop 734 chr21 19622296 19622297 rs535690395 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622298 19622299 rs575458500 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19622301 19622302 rs76042113 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4950.000000,58.000000, 0.988419,0.011582, maf-5-some-pop 734 chr21 19622307 19622308 rs77855155 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 734 chr21 19622323 19622324 rs114028750 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4807.000000,201.000000, 0.959864,0.040136, maf-5-some-pop 734 chr21 19622382 19622383 rs73318240 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.134802 0.221877 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4644.000000,364.000000, 0.927316,0.072684, maf-5-some-pop 734 chr21 19622425 19622426 rs779019964 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19622460 19622461 rs565226926 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622505 19622506 rs761875597 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19622555 19622556 rs140818601 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19622575 19622576 rs866519204 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19622581 19622582 rs544486145 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622618 19622619 rs564563342 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,WEILL_CORNELL_DGM, 0 734 chr21 19622633 19622634 rs200355509 0 + T T -/T genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19622638 19622639 rs112129979 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.133777 0.221342 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 A,T, 361.000000,4647.000000, 0.072085,0.927915, maf-5-some-pop 734 chr21 19622638 19622638 rs201255608 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron between 1 1 1000GENOMES, 2 -,A, 4808.000000,200.000000, 0.960064,0.039936, maf-5-some-pop 734 chr21 19622639 19622640 rs181200991 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 5 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19622639 19622639 rs146077538 0 + - - -/A/AA genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,LUNTER, 0 734 chr21 19622648 19622649 rs772885997 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19622675 19622676 rs116181689 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 734 chr21 19622696 19622697 rs185804564 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19622697 19622698 rs528078542 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19622716 19622717 rs546720906 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19622789 19622790 rs571255783 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622832 19622833 rs144563460 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19622889 19622890 rs766001720 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19622911 19622912 rs190311571 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19622916 19622917 rs575562347 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623020 19623021 rs568680286 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19623041 19623042 rs151171304 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19623056 19623057 rs140234908 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19623094 19623095 rs11911464 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.07705 0.180522 intron exact 1 6 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 734 chr21 19623121 19623122 rs540267287 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623135 19623136 rs73206933 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.112631 0.208878 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 300.000000,4708.000000, 0.059904,0.940096, maf-5-some-pop 734 chr21 19623184 19623185 rs577278310 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19623215 19623216 rs529452713 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19623219 19623220 rs866669847 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19623253 19623254 rs544660327 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19623273 19623274 rs562962512 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623310 19623311 rs113600990 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 A,G, 52.000000,4956.000000, 0.010383,0.989617, 734 chr21 19623311 19623312 rs373264946 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19623329 19623330 rs79828908 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 734 chr21 19623330 19623334 rs751827703 0 + TAAC TAAC -/TAAC genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 734 chr21 19623408 19623409 rs115151616 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 734 chr21 19623472 19623473 rs527941933 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623474 19623475 rs115871023 0 + A A A/G genomic single by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 1 1000GENOMES, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 734 chr21 19623502 19623503 rs571187192 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19623514 19623515 rs532127254 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19623523 19623524 rs114617129 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 200.000000,4808.000000, 0.039936,0.960064, maf-5-some-pop 734 chr21 19623542 19623543 rs568743684 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623560 19623561 rs182651423 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19623592 19623593 rs116494375 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 200.000000,4808.000000, 0.039936,0.960064, maf-5-some-pop 734 chr21 19623631 19623635 rs138967692 0 + TTTA TTTA -/TTTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron range 1 2 1000GENOMES,LUNTER, 2 -,TTTA, 24.000000,4984.000000, 0.004792,0.995208, 734 chr21 19623639 19623640 rs566435115 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623640 19623641 rs534055709 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623646 19623647 rs558698875 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19623650 19623651 rs867841861 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19623663 19623664 rs577142133 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19623704 19623705 rs9982543 0 + G G A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.373826 0.249083 intron exact 1 MixedObserved,SingleClassTriAllelic 11 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 A,G,T, 1024.000000,3825.000000,159.000000, 0.204473,0.763778,0.031749, maf-5-some-pop,maf-5-all-pops 734 chr21 19623704 19623705 rs199791567 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,G, 37.000000,4971.000000, 0.007388,0.992612, 734 chr21 19623710 19623711 rs187605393 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4875.000000,133.000000, 0.973442,0.026557, maf-5-some-pop 734 chr21 19623714 19623717 rs567497229 0 + ATA ATA -/ATA genomic deletion by-frequency,by-1000genomes 0.029891 0.118541 intron range 1 1 1000GENOMES, 2 -,ATA, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 734 chr21 19623715 19623716 rs150322019 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.073 0.176553 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 190.000000,4818.000000, 0.037939,0.962061, maf-5-some-pop 734 chr21 19623727 19623740 rs374952841 0 + TTTATTTATTTTA TTTATTTATTTTA -/TTTATTTATTTTA genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 734 chr21 19623740 19623741 rs868047819 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19623759 19623760 rs372010241 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623766 19623767 rs374190663 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623779 19623780 rs374456375 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623780 19623781 rs368877430 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623784 19623785 rs372168799 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 734 chr21 19623784 19623784 rs368609796 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 BILGI_BIOE, 0 734 chr21 19623785 19623786 rs375857743 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 734 chr21 19623786 19623786 rs372370682 0 + - - -/AAAA genomic insertion unknown 0 0 intron between 1 1 BILGI_BIOE, 0 734 chr21 19623789 19623790 rs368986933 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 734 chr21 19623808 19623809 rs9983630 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19623816 19623817 rs192281556 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 0 734 chr21 19623818 19623819 rs184073876 0 + T T G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 0 734 chr21 19623825 19623826 rs374697159 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623832 19623833 rs867335696 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19623833 19623833 rs369087998 0 + - - -/AAAT genomic insertion by-cluster 0 0 intron between 1 2 BILGI_BIOE,DDI, 0 734 chr21 19623838 19623839 rs9941788 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 BCM_SSAHASNP,WEILL_CORNELL_DGM, 0 734 chr21 19623839 19623840 rs9941789 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 BCM_SSAHASNP,WEILL_CORNELL_DGM, 0 734 chr21 19623845 19623846 rs9941790 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 734 chr21 19623846 19623847 rs372188522 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623848 19623849 rs376799906 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623851 19623852 rs369104073 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623854 19623858 rs371987042 0 + TTTT TTTT -/TTTT genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19623860 19623863 rs375323282 0 + TAT TAT -/TAT genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19623862 19623863 rs369621839 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19623865 19623865 rs553337010 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.004781 0.048658 intron between 1 1 1000GENOMES, 2 -,A, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19623880 19623881 rs374189890 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 734 chr21 19623938 19623939 rs9974940 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 0 734 chr21 19623939 19623940 rs9974941 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 0 734 chr21 19623942 19623946 rs374164312 0 + TTTT TTTT -/TTTT genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19623967 19623968 rs868753519 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19623970 19623983 rs377678278 0 + TATTTATTTTATT TATTTATTTTATT -/TATTTATTTTATT genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19623972 19623973 rs9974954 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 4 DDI,HGSV,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 0 734 chr21 19623972 19623973 rs66772594 0 + T T AA/TT genomic mnp unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,ObservedMismatch,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 AA, 2.000000, 1.000000, 734 chr21 19623973 19623974 rs9974955 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 4 DDI,HGSV,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 0 734 chr21 19624008 19624017 rs369894868 0 + TATTTTATT TATTTTATT -/TATTTTATT genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19624038 19624039 rs560627586 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19624042 19624046 rs796521304 0 + TATT TATT -/TATT genomic deletion unknown 0 0 intron range 1 1 PADH-LAB_SPU, 0 734 chr21 19624045 19624046 rs138287969 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.093777 0.195178 intron exact 1 4 1000GENOMES,DDI,EVA-GONL,WEILL_CORNELL_DGM, 2 A,T, 247.000000,4761.000000, 0.049321,0.950679, maf-5-some-pop 734 chr21 19624047 19624048 rs866099997 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19624048 19624049 rs867980373 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19624054 19624055 rs376657477 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19624058 19624059 rs370105967 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 734 chr21 19624058 19624058 rs374565367 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 BILGI_BIOE, 0 734 chr21 19624059 19624060 rs373422976 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19624062 19624063 rs377083900 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19624063 19624064 rs370105462 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19624140 19624141 rs115834649 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 734 chr21 19624196 19624197 rs188609365 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19624239 19624240 rs9975042 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.211819 0.247067 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4405.000000,603.000000, 0.879593,0.120407, maf-5-some-pop 734 chr21 19624303 19624304 rs550441125 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19624330 19624331 rs143975152 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19624343 19624344 rs746580915 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19624348 19624349 rs146908306 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19624378 19624379 rs565190752 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19624410 19624412 rs754860306 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19624440 19624441 rs547993420 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19624482 19624483 rs777801287 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19624522 19624523 rs753932577 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19624527 19624528 rs192221370 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19624566 19624567 rs184418251 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19624588 19624589 rs867058801 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19624612 19624613 rs552425865 0 + C C A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19624633 19624634 rs778947685 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19624662 19624663 rs373110594 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19624678 19624679 rs9808639 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.204189 0.245767 intron exact 1 12 1000GENOMES,BCM_SSAHASNP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4430.000000,578.000000, 0.884585,0.115415, maf-5-some-pop 734 chr21 19624713 19624714 rs746109817 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19624743 19624744 rs370887920 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19624779 19624780 rs768533405 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19624843 19624844 rs78396502 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.104859 0.203554 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 278.000000,4730.000000, 0.055511,0.944489, maf-5-some-pop 734 chr21 19624855 19624856 rs186874279 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19624918 19624919 rs80018888 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 200.000000,4808.000000, 0.039936,0.960064, maf-5-some-pop 734 chr21 19624926 19624927 rs772832628 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19624936 19624937 rs535918634 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19624955 19624956 rs527986103 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19624973 19624974 rs73206938 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19624979 19624980 rs527290951 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19624981 19624982 rs139318431 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19625050 19625051 rs564789895 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19625086 19625087 rs143004828 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19625129 19625130 rs75793899 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,G, 4955.000000,53.000000, 0.989417,0.010583, 734 chr21 19625131 19625132 rs770479267 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19625158 19625159 rs75385833 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4808.000000,200.000000, 0.960064,0.039936, maf-5-some-pop 734 chr21 19625161 19625162 rs77607233 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 10 1000GENOMES,CHURCH_CG54K,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 734 chr21 19625187 19625188 rs113286524 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 C,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19625220 19625221 rs567285297 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19625224 19625225 rs7279148 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.352504 0.228019 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1144.000000,3864.000000, 0.228435,0.771565, maf-5-some-pop 734 chr21 19625266 19625267 rs116579830 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19625267 19625268 rs753101875 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19625291 19625292 rs552230404 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19625322 19625323 rs76561005 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 734 chr21 19625346 19625347 rs537708166 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19625437 19625438 rs191710680 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19625511 19625512 rs568435834 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19625516 19625517 rs376978697 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19625539 19625540 rs184248765 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19625575 19625576 rs9977485 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19625609 19625610 rs566180247 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19625632 19625632 rs141515066 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.078518 0.181917 intron between 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,T, 4803.000000,205.000000, 0.959065,0.040934, maf-5-some-pop 734 chr21 19625697 19625698 rs542373459 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19625719 19625720 rs189349857 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19625729 19625730 rs73206943 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19625748 19625749 rs760744000 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19625773 19625774 rs538109514 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19625818 19625819 rs576685107 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19625831 19625832 rs757221836 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19625836 19625837 rs9808693 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 1 C, 12.000000, 1.000000, 734 chr21 19625895 19625896 rs543676833 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19625906 19625907 rs368339020 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19625926 19625927 rs558171241 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19625942 19625943 rs182354327 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19625998 19625999 rs185688927 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA_DECODE, 0 734 chr21 19626003 19626004 rs750565552 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626012 19626013 rs758730824 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626064 19626065 rs370902436 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19626090 19626091 rs577942652 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19626091 19626092 rs8127238 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 734 chr21 19626154 19626155 rs375499533 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19626164 19626164 rs575253785 0 + - - -/TGTTTTTA genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,TGTTTTTA, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19626188 19626189 rs748010001 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626194 19626195 rs560184371 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19626203 19626204 rs527540727 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19626208 19626209 rs545987498 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19626209 19626210 rs368289632 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19626214 19626215 rs372641167 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 734 chr21 19626245 19626246 rs7279804 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 734 chr21 19626246 19626247 rs777503558 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626255 19626259 rs373053681 0 + TGTT TGTT -/TGTT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19626303 19626304 rs531661000 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19626368 19626369 rs75697306 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19626421 19626422 rs550077775 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19626435 19626436 rs749278434 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626451 19626452 rs75870232 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19626451 19626451 rs552296016 0 + - - -/T/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.320447 0.273113 intron between 1 MixedObserved 3 1000GENOMES,EVA_GENOME_DK,SSMP, 3 -,T,TTT, 4062.000000,692.000000,254.000000, 0.811102,0.138179,0.050719, 734 chr21 19626461 19626462 rs34046207 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19626461 19626462 rs568499073 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19626462 19626462 rs72330709 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 GMI, 0 734 chr21 19626504 19626505 rs529294030 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19626534 19626535 rs547955959 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19626538 19626539 rs34590352 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.077417 0.180873 intron exact 1 8 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4806.000000,202.000000, 0.959665,0.040335, maf-5-some-pop 734 chr21 19626549 19626550 rs539509320 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19626576 19626612 rs567453008 0 + AGGAATAATGTTAATGGAGATGAATTGTAAGAAAGT AGGAATAATGTTAATGGAGATGAATTGTAAGAAAGT lengthTooLong genomic in-del by-frequency,by-1000genomes 0.039905 0.1355 intron range 1 ObservedTooLong 1 1000GENOMES, 2 -,AGGAATAATGTTAATGGAGATGAATTGTAAGAAAGT, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 734 chr21 19626578 19626579 rs773959170 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626578 19626578 rs201030328 0 + - - -/A genomic insertion by-1000genomes 0 0 intron between 1 MixedObserved 1 1000GENOMES, 0 734 chr21 19626607 19626608 rs377268721 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19626678 19626679 rs554223252 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19626690 19626691 rs759159412 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626713 19626714 rs574076504 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19626721 19626722 rs188980287 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19626730 19626731 rs77227339 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19626734 19626735 rs771780375 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626740 19626740 rs752446221 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626747 19626748 rs139344157 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 734 chr21 19626748 19626749 rs555625151 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19626797 19626798 rs36124986 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 intron exact 1 7 1000GENOMES,ABI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4808.000000,200.000000, 0.960064,0.039936, maf-5-some-pop 734 chr21 19626798 19626799 rs181509471 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19626809 19626810 rs775819188 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626811 19626812 rs186136892 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19626820 19626821 rs572120995 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19626883 19626884 rs372602436 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19626950 19626951 rs564332749 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19626959 19626960 rs760972557 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19626965 19626966 rs762036915 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19626987 19626988 rs531518974 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19626989 19626990 rs74665487 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.076315 0.179815 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4809.000000,199.000000, 0.960264,0.039736, maf-5-some-pop 734 chr21 19626991 19626992 rs561958321 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627017 19627018 rs529152724 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19627035 19627039 rs72351505 0 + TCTA TCTA -/TCTA genomic deletion by-cluster,by-frequency,by-1000genomes 0.204496 0.245824 intron range 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,TCTA, 579.000000,4429.000000, 0.115615,0.884385, maf-5-some-pop,maf-5-all-pops 734 chr21 19627036 19627037 rs73318242 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 4922.000000,86.000000, 0.982827,0.017173, maf-5-some-pop 734 chr21 19627038 19627039 rs762407431 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627059 19627060 rs565902862 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627083 19627084 rs368939776 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19627161 19627162 rs116180334 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4969.000000,39.000000, 0.992212,0.007788, 734 chr21 19627164 19627165 rs750381906 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19627165 19627166 rs11911563 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.056231 0.157967 intron exact 1 11 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4863.000000,145.000000, 0.971046,0.028954, maf-5-some-pop 734 chr21 19627170 19627171 rs537238767 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19627171 19627172 rs549314226 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627179 19627180 rs765164513 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 734 chr21 19627182 19627183 rs556436722 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627199 19627200 rs534949687 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19627209 19627210 rs372890223 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19627230 19627231 rs73893043 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ILLUMINA-UK, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19627234 19627235 rs79685289 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.077417 0.180873 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 202.000000,4806.000000, 0.040335,0.959665, maf-5-some-pop 734 chr21 19627258 19627259 rs766018584 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19627262 19627263 rs144080451 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19627296 19627297 rs751398595 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19627297 19627298 rs9983595 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.204803 0.245881 intron exact 1 16 1000GENOMES,AFFY,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 580.000000,4428.000000, 0.115815,0.884185, maf-5-some-pop 734 chr21 19627305 19627306 rs576348800 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627327 19627328 rs146524183 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19627348 19627349 rs181459447 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002398 0.034544 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 6.000000,4992.000000, 0.001200,0.998800, 734 chr21 19627349 19627349 rs545273808 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.00399 0.044489 intron between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 4992.000000,10.000000, 0.998001,0.001999, 734 chr21 19627350 19627351 rs561823011 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627391 19627392 rs139949430 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19627394 19627395 rs114730719 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 91.000000,4917.000000, 0.018171,0.981829, maf-5-some-pop 734 chr21 19627412 19627413 rs115308556 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 91.000000,4917.000000, 0.018171,0.981829, maf-5-some-pop 734 chr21 19627444 19627445 rs533160999 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19627476 19627477 rs186057738 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19627486 19627487 rs755932645 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627489 19627490 rs777644817 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627520 19627521 rs76044131 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.077417 0.180873 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4806.000000,202.000000, 0.959665,0.040335, maf-5-some-pop 734 chr21 19627529 19627530 rs530867652 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627540 19627541 rs549177083 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627569 19627570 rs12627678 0 + A A A/C genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 734 chr21 19627572 19627573 rs12627679 0 + A A A/C genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 734 chr21 19627578 19627579 rs757260181 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627589 19627590 rs541016214 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19627633 19627634 rs567491285 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19627640 19627641 rs535356529 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19627693 19627694 rs149742366 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 734 chr21 19627765 19627766 rs745440765 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627778 19627779 rs369162771 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19627806 19627807 rs190929185 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19627813 19627814 rs771584153 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627831 19627831 rs748813478 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627865 19627866 rs775060331 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627887 19627888 rs539059454 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19627888 19627889 rs557688861 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19627919 19627922 rs139403850 0 + ACA ACA -/ACA genomic deletion by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron range 1 2 1000GENOMES,LUNTER, 2 -,ACA, 26.000000,4982.000000, 0.005192,0.994808, 734 chr21 19627924 19627927 rs376005179 0 + AAC AAC -/AAC genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19627949 19627950 rs746698897 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19627994 19627995 rs77097933 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 61.000000,4947.000000, 0.012180,0.987819, maf-5-some-pop 734 chr21 19628026 19628027 rs73206946 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 MixedObserved 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 734 chr21 19628026 19628028 rs869070394 0 + TA TA -/TA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 BCMHGSC_JDW, 0 734 chr21 19628032 19628033 rs555624331 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19628043 19628044 rs148817336 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19628094 19628095 rs557333574 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19628119 19628120 rs79237593 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036451 0.129988 intron exact 1 10 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4915.000000,93.000000, 0.981430,0.018570, 734 chr21 19628159 19628160 rs561379591 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19628183 19628184 rs578008034 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19628197 19628197 rs540915983 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 734 chr21 19628203 19628204 rs545078961 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19628204 19628206 rs540700008 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 734 chr21 19628207 19628208 rs187645648 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19628208 19628209 rs530931707 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19628249 19628250 rs549042332 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19628268 19628269 rs190944480 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19628291 19628292 rs528665818 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19628301 19628302 rs377000936 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19628332 19628333 rs143516050 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19628377 19628378 rs571850240 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19628457 19628458 rs536370933 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19628639 19628640 rs867374534 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19628645 19628646 rs530115412 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19628648 19628649 rs182737819 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19628673 19628674 rs569642987 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19628691 19628692 rs78575371 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 201.000000,4807.000000, 0.040136,0.959864, maf-5-some-pop 734 chr21 19628710 19628711 rs372844585 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19628727 19628728 rs555487874 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19628741 19628742 rs187365040 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19628745 19628746 rs192901922 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19628769 19628770 rs773865885 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19628779 19628780 rs78742300 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022853 0.104424 intron exact 1 10 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1306.000000,99634.000000, 0.012938,0.987062, maf-5-some-pop 734 chr21 19628787 19628788 rs114740226 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024873 0.108716 intron exact 1 SingleClassTriAllelic 9 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,NHLBI-ESP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 1410.000000,99825.000000,3.000000, 0.013928,0.986043,0.000030, maf-5-some-pop 734 chr21 19628795 19628796 rs768801758 0 + A A A/G genomic single by-frequency 0.000123 0.007832 intron exact 1 1 EVA_EXAC, 2 A,G, 97770.000000,6.000000, 0.999939,0.000061, 734 chr21 19628802 19628803 rs200672329 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00251 0.035337 intron exact 1 4 1000GENOMES,EVA_EXAC,JMKIDD_LAB,TISHKOFF, 2 A,G, 148.000000,103540.000000, 0.001427,0.998573, 734 chr21 19628804 19628805 rs375101551 0 + G G A/G genomic single by-cluster,by-frequency 0.000121 0.007777 intron exact 1 2 EVA_EXAC,SSMP, 2 A,G, 6.000000,99158.000000, 0.000061,0.999940, 734 chr21 19628807 19628810 rs150053544 0 + TCT TCT -/TCT genomic deletion by-cluster,by-frequency,by-1000genomes 0.075579 0.179102 intron range 1 MixedObserved 4 1000GENOMES,EVA_EXAC,HAMMER_LAB,LUNTER, 2 -,TCT, 197.000000,4811.000000, 0.039337,0.960663, maf-5-some-pop 734 chr21 19628807 19628811 rs372744973 0 + TCTT TCTT -/TCTT genomic deletion by-cluster 0.09818 0.207535 intron range 1 MixedObserved,AlleleFreqSumNot1 2 EVA_EXAC,WARNICH_LAB, 2 -,TCTT, 78.000000,11762.000000, 0.006297,0.949621, 734 chr21 19628807 19628812 rs771502947 0 + TCTTT TCTTT -/TCTTT genomic deletion unknown 0.000041 0.004526 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,TCTTT, 2.000000,97641.000000, 0.000020,0.999979, 734 chr21 19628807 19628809 rs778826367 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_EXAC, 0 734 chr21 19628808 19628809 rs765809445 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA_EXAC, 0 734 chr21 19628808 19628809 rs772753658 0 + C C -/C genomic deletion by-frequency 0.002197 0.033071 intron exact 1 MixedObserved 2 EVA_EXAC,HAMMER_LAB, 2 -,C, 106.000000,96280.000000, 0.001100,0.998900, 734 chr21 19628809 19628810 rs200762308 0 + T T -/T genomic deletion by-cluster 0.071802 0.175343 intron exact 1 MixedObserved 2 EVA_EXAC,GMI, 2 -,T, 38.000000,981.000000, 0.037292,0.962709, 734 chr21 19628809 19628812 rs759996454 0 + TTT TTT -/TTT genomic deletion unknown 0.002083 0.032204 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,TTT, 38.000000,36411.000000, 0.001043,0.998957, 734 chr21 19628809 19628811 rs776915040 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_EXAC, 0 734 chr21 19628809 19628809 rs747057046 0 + - - -/T/TT genomic insertion unknown 0.092016 0.19437 intron between 1 MixedObserved 2 EVA_EXAC,EVA_GENOME_DK, 3 -,T,TT, 38.000000,981.000000,20099.000000, 0.001799,0.046453,0.951747, 734 chr21 19628818 19628818 rs776174325 0 + - - -/G genomic insertion by-frequency 0.000104 0.007227 intron between 1 1 EVA_EXAC, 2 -,G, 114828.000000,6.000000, 0.999948,0.000052, 734 chr21 19628821 19628823 rs796466132 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 EVA_EXAC, 0 734 chr21 19628822 19628823 rs750869024 0 + C C C/G/T genomic single by-frequency 0.00029 0.012042 intron exact 1 MixedObserved,SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 110252.000000,6.000000,10.000000, 0.999855,0.000054,0.000091, 734 chr21 19628822 19628823 rs764130564 0 + C C -/C genomic deletion unknown 0.000018 0.002962 intron exact 1 MixedObserved 1 EVA_EXAC, 2 -,C, 1.000000,113965.000000, 0.000009,0.999991, 734 chr21 19628822 19628822 rs201642242 0 + - - -/T/TC genomic insertion by-frequency 0.000033 0.00406 intron between 1 MixedObserved,InconsistentAlleles 1 GMI, 2 -,TC, 2.000000,121302.000000, 0.000016,0.999983, 734 chr21 19628831 19628832 rs766842939 0 + A A A/G genomic single unknown 0.000017 0.002932 missense,untranslated-5 exact 1 1 EVA_EXAC, 2 A,G, 116319.000000,1.000000, 0.999991,0.000009, 734 chr21 19628832 19628833 rs751904196 0 + G G G/T genomic single by-frequency 0.000034 0.004143 missense,untranslated-5 exact 1 1 EVA_EXAC, 2 G,T, 116530.000000,2.000000, 0.999983,0.000017, 734 chr21 19628833 19628834 rs556962391 0 + G G A/G genomic single by-1000genomes 0.000051 0.00507 missense,untranslated-5 exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 4.000000,121718.000000, 0.000033,0.999967, 734 chr21 19628834 19628835 rs780658002 0 + T T G/T genomic single by-cluster,by-frequency 0.0014 0.026424 missense,untranslated-5 exact 1 2 EVA_EXAC,ILLUMINA, 2 G,T, 78.000000,111246.000000, 0.000701,0.999299, 734 chr21 19628836 19628837 rs752281726 0 + T T G/T genomic single by-frequency 0.000017 0.002919 missense,untranslated-5 exact 1 1 EVA_EXAC, 2 G,T, 1.000000,117375.000000, 0.000009,0.999991, 734 chr21 19628855 19628856 rs755547807 0 + A A A/T genomic single unknown 0.000017 0.002891 missense,untranslated-5 exact 1 1 EVA_EXAC, 2 A,T, 119621.000000,1.000000, 0.999992,0.000008, 734 chr21 19628861 19628862 rs575216686 0 + G G G/T genomic single by-1000genomes 0.000017 0.002888 missense,untranslated-5 exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 124868.000000,2.000000, 0.999984,0.000016, 734 chr21 19628870 19628871 rs749211836 0 + T T C/T genomic single unknown 0.000017 0.002884 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120225.000000, 0.000008,0.999992, 734 chr21 19628872 19628873 rs140940289 0 + G G A/G genomic single by-cluster 0.0001 0.007062 missense exact 1 4 EVA_EXAC,ILLUMINA,NHLBI-ESP,SSMP, 2 A,G, 6.000000,120288.000000, 0.000050,0.999950, 734 chr21 19628878 19628879 rs542750147 0 + T T A/T genomic single by-1000genomes 0.000017 0.002881 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 2.000000,125486.000000, 0.000016,0.999984, 734 chr21 19628888 19628889 rs745607801 0 + T T C/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120707.000000, 0.000008,0.999992, 734 chr21 19628896 19628897 rs561040335 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 nonsense exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19628897 19628898 rs199891121 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19628900 19628901 rs144593079 0 + T T A/T genomic single by-cluster 0.000017 0.002875 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 1.000000,120971.000000, 0.000008,0.999992, 734 chr21 19628901 19628902 rs776681696 0 + G G A/G genomic single unknown 0.000017 0.002875 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120981.000000, 0.000008,0.999992, 734 chr21 19628913 19628914 rs540479831 0 + G G G/T genomic single by-1000genomes 0.000017 0.002874 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 126080.000000,2.000000, 0.999984,0.000016, 734 chr21 19628915 19628916 rs769745802 0 + C C C/T genomic single unknown 0.000017 0.002874 missense exact 1 1 EVA_EXAC, 2 C,T, 121089.000000,1.000000, 0.999992,0.000008, 734 chr21 19628917 19628918 rs147579421 0 + C C A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000281 0.011843 missense exact 1 SingleClassQuadAllelic 6 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SSMP, 4 A,C,G,T, 4.000000,126127.000000,1.000000,14.000000, 0.000032,0.999849,0.000008,0.000111, rs-cluster-nonoverlapping-alleles 734 chr21 19628918 19628919 rs751992493 0 + G G A/G genomic single by-frequency 0.000033 0.004063 missense exact 1 1 EVA_EXAC, 2 A,G, 2.000000,121154.000000, 0.000017,0.999983, 734 chr21 19628933 19628934 rs532714129 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19628939 19628940 rs759939160 0 + G G A/G genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121263.000000, 0.000008,0.999992, 734 chr21 19628943 19628944 rs767239738 0 + A A A/G genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121275.000000,1.000000, 0.999992,0.000008, 734 chr21 19628949 19628950 rs752270530 0 + C C C/T genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121297.000000,1.000000, 0.999992,0.000008, 734 chr21 19628954 19628955 rs755708329 0 + G G C/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121313.000000, 0.000008,0.999992, 734 chr21 19628963 19628964 rs777145979 0 + A A A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 121329.000000,1.000000, 0.999992,0.000008, 734 chr21 19628964 19628965 rs753281252 0 + T T C/T genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121329.000000, 0.000008,0.999992, 734 chr21 19628967 19628968 rs142557853 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000016 0.002871 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 126346.000000,2.000000, 0.999984,0.000016, 734 chr21 19628968 19628969 rs778777155 0 + G G G/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 G,T, 121333.000000,1.000000, 0.999992,0.000008, 734 chr21 19628978 19628979 rs745697776 0 + A A A/C genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,C, 121349.000000,1.000000, 0.999992,0.000008, 734 chr21 19628982 19628983 rs375784288 0 + A A A/G genomic single unknown 0.000154 0.008773 coding-synon exact 1 1 NHLBI-ESP, 2 A,G, 13005.000000,1.000000, 0.999923,0.000077, 734 chr21 19628985 19628986 rs370022813 0 + A A A/G genomic single by-cluster 0.000016 0.002871 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 121353.000000,1.000000, 0.999992,0.000008, 734 chr21 19628992 19628993 rs781530660 0 + A A A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 121361.000000,1.000000, 0.999992,0.000008, 734 chr21 19628993 19628994 rs373342182 0 + T T C/T genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121357.000000, 0.000008,0.999992, 734 chr21 19628995 19628996 rs377519818 0 + T T C/T genomic single by-cluster 0.000016 0.00287 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121359.000000, 0.000008,0.999992, 734 chr21 19628997 19628998 rs773436892 0 + G G A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121357.000000, 0.000008,0.999992, 734 chr21 19629004 19629005 rs749330837 0 + C C C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121357.000000,1.000000, 0.999992,0.000008, 734 chr21 19629015 19629016 rs61739664 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005817 0.053616 coding-synon exact 1 10 1000GENOMES,CORNELL,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,NHLBI-ESP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 125953.000000,413.000000, 0.996732,0.003268, maf-5-some-pop 734 chr21 19629016 19629017 rs146669901 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000016 0.00287 missense exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,G, 2.000000,126370.000000, 0.000016,0.999984, 734 chr21 19629021 19629022 rs549150011 0 + A A A/G genomic single by-1000genomes 0.000214 0.010347 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 126358.000000,14.000000, 0.999889,0.000111, 734 chr21 19629024 19629025 rs767759893 0 + G G A/G genomic single by-frequency 0.000033 0.004059 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 2.000000,121366.000000, 0.000016,0.999984, 734 chr21 19629029 19629030 rs775280248 0 + C C A/C genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121359.000000, 0.000008,0.999992, 734 chr21 19629030 19629031 rs760250647 0 + T T C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121365.000000, 0.000008,0.999992, 734 chr21 19629033 19629034 rs375671735 0 + T T C/T genomic single by-cluster,by-frequency 0.000115 0.007593 coding-synon exact 1 MixedObserved 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 7.000000,121361.000000, 0.000058,0.999942, 734 chr21 19629033 19629036 rs751629840 0 + TGG TGG -/TGG genomic deletion by-frequency 0.000033 0.004059 cds-indel range 1 MixedObserved 1 EVA_EXAC, 2 -,TGG, 2.000000,121364.000000, 0.000016,0.999984, 734 chr21 19629042 19629043 rs753371867 0 + C C C/T genomic single by-cluster 0.000016 0.00287 coding-synon exact 1 2 EVA_EXAC,YSAMUELS, 2 C,T, 121363.000000,1.000000, 0.999992,0.000008, 734 chr21 19629050 19629051 rs756719942 0 + G G A/G genomic single by-frequency 0.000066 0.005741 missense exact 1 1 EVA_EXAC, 2 A,G, 4.000000,121358.000000, 0.000033,0.999967, 734 chr21 19629063 19629064 rs567256236 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 coding-synon exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19629064 19629065 rs765203113 0 + G G A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121319.000000, 0.000008,0.999992, 734 chr21 19629071 19629072 rs144365214 0 + G G A/G genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 A,G, 1.000000,13005.000000, 0.000077,0.999923, 734 chr21 19629072 19629073 rs749953036 0 + G G A/G genomic single unknown 0.000016 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121261.000000, 0.000008,0.999992, 734 chr21 19629073 19629074 rs758006539 0 + C C C/T genomic single unknown 0.000016 0.002872 nonsense exact 1 1 EVA_EXAC, 2 C,T, 121253.000000,1.000000, 0.999992,0.000008, 734 chr21 19629087 19629088 rs148388759 0 + C C C/T genomic single by-cluster 0.000149 0.008623 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 120975.000000,9.000000, 0.999926,0.000074, 734 chr21 19629093 19629094 rs746736900 0 + A A A/G genomic single by-frequency 0.000033 0.004068 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120864.000000,2.000000, 0.999983,0.000017, 734 chr21 19629107 19629108 rs756414774 0 + G G G/T genomic single by-frequency 0.000033 0.004079 missense exact 1 1 EVA_EXAC, 2 G,T, 120222.000000,2.000000, 0.999983,0.000017, 734 chr21 19629114 19629115 rs200848816 0 + T T C/T genomic single by-cluster 0.000084 0.006464 coding-synon exact 1 5 CLINSEQ_SNP,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 C,T, 5.000000,119631.000000, 0.000042,0.999958, 734 chr21 19629128 19629129 rs201666293 0 + A A A/C genomic single unknown 0.001998 0.031544 missense exact 1 NonIntegerChromCount 1 CLINSEQ_SNP, 2 A,C, 1320.680054,1.322000, 0.999000,0.001000, 734 chr21 19629133 19629134 rs749773932 0 + C C C/T genomic single unknown 0.000017 0.002913 nonsense exact 1 1 EVA_EXAC, 2 C,T, 117841.000000,1.000000, 0.999992,0.000008, 734 chr21 19629134 19629135 rs370782192 0 + G G A/G genomic single by-cluster,by-frequency 0.000102 0.007138 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 6.000000,117722.000000, 0.000051,0.999949, 734 chr21 19629135 19629136 rs774514208 0 + G G G/T genomic single unknown 0.000017 0.002914 splice-5 exact 1 1 EVA_EXAC, 2 G,T, 117757.000000,1.000000, 0.999992,0.000008, 734 chr21 19629140 19629141 rs745939386 0 + T T C/T genomic single unknown 0.000017 0.002918 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,117473.000000, 0.000009,0.999991, 734 chr21 19629151 19629152 rs772259583 0 + A A A/G genomic single by-frequency 0.00012 0.007751 intron exact 1 1 EVA_EXAC, 2 A,G, 116465.000000,7.000000, 0.999940,0.000060, 734 chr21 19629152 19629153 rs374775651 0 + G G A/G genomic single by-cluster,by-frequency 0.000052 0.005075 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 3.000000,116459.000000, 0.000026,0.999974, 734 chr21 19629156 19629157 rs200086846 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000103 0.007187 intron exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 C,T, 8.000000,121120.000000, 0.000066,0.999934, 734 chr21 19629159 19629160 rs16998278 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.027955 0.114875 intron exact 1 14 1000GENOMES,AFFY,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1848.000000,119038.000000, 0.015287,0.984713, maf-5-some-pop,genotype-conflict 734 chr21 19629168 19629169 rs776438362 0 + C C C/T genomic single by-frequency 0.000035 0.00417 intron exact 1 1 EVA_EXAC, 2 C,T, 114996.000000,2.000000, 0.999983,0.000017, 734 chr21 19629170 19629171 rs755687369 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19629171 19629172 rs761685850 0 + G G G/T genomic single unknown 0.000017 0.002951 intron exact 1 1 EVA_EXAC, 2 G,T, 114859.000000,1.000000, 0.999991,0.000009, 734 chr21 19629180 19629181 rs765168334 0 + A A A/G genomic single by-frequency 0.000035 0.004178 intron exact 1 1 EVA_EXAC, 2 A,G, 114574.000000,2.000000, 0.999983,0.000017, 734 chr21 19629185 19629186 rs571397002 0 + T T C/T genomic single by-1000genomes 0.000017 0.002956 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,119470.000000, 0.000017,0.999983, 734 chr21 19629191 19629192 rs867753646 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 YSAMUELS, 0 734 chr21 19629232 19629233 rs538578282 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19629251 19629252 rs779462873 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19629256 19629257 rs77782229 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061139 0.163803 intron exact 1 14 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,WEILL_CORNELL_DGM, 2 C,T, 116899.000000,3741.000000, 0.968990,0.031010, maf-5-some-pop 734 chr21 19629263 19629264 rs765965461 0 + T T C/T genomic single unknown 0.000017 0.002936 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,116025.000000, 0.000009,0.999991, 734 chr21 19629277 19629281 rs757488358 0 + TGTT TGTT -/TGTT genomic deletion unknown 0.000017 0.002929 intron range 1 1 EVA_EXAC, 2 -,TGTT, 1.000000,116567.000000, 0.000009,0.999991, 734 chr21 19629286 19629287 rs751143264 0 + A A A/G genomic single by-frequency 0.000068 0.005835 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 117448.000000,4.000000, 0.999966,0.000034, 734 chr21 19629297 19629298 rs754691044 0 + C C A/C genomic single unknown 0.000017 0.002906 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,118437.000000, 0.000008,0.999992, 734 chr21 19629304 19629305 rs778235093 0 + A A A/C genomic single by-frequency 0.000034 0.004099 missense exact 1 1 EVA_EXAC, 2 A,C, 119048.000000,2.000000, 0.999983,0.000017, 734 chr21 19629305 19629306 rs141516829 0 + C C C/G genomic single by-cluster 0.000017 0.002898 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,G, 119063.000000,1.000000, 0.999992,0.000008, 734 chr21 19629310 19629311 rs757770886 0 + C C C/T genomic single unknown 0.000017 0.002893 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 119505.000000,1.000000, 0.999992,0.000008, 734 chr21 19629313 19629314 rs139359296 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000067 0.00578 coding-synon exact 1 6 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,NHLBI-ESP, 2 C,T, 124717.000000,5.000000, 0.999960,0.000040, 734 chr21 19629314 19629315 rs202176979 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 missense exact 1 2 1000GENOMES,CLINSEQ_SNP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19629315 19629316 rs778852192 0 + G G A/G genomic single by-frequency 0.000167 0.009128 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 10.000000,119946.000000, 0.000083,0.999917, 734 chr21 19629318 19629319 rs772020049 0 + G G A/G genomic single unknown 0.000017 0.002885 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120139.000000, 0.000008,0.999992, 734 chr21 19629326 19629327 rs780219103 0 + T T C/T genomic single unknown 0.000017 0.00288 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120527.000000, 0.000008,0.999992, 734 chr21 19629329 19629330 rs747155362 0 + G G G/T genomic single unknown 0.000017 0.002879 missense exact 1 1 EVA_EXAC, 2 G,T, 120617.000000,1.000000, 0.999992,0.000008, 734 chr21 19629335 19629336 rs554502695 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19629337 19629338 rs768885140 0 + G G A/G genomic single by-frequency 0.00005 0.004983 missense exact 1 1 EVA_EXAC, 2 A,G, 3.000000,120797.000000, 0.000025,0.999975, 734 chr21 19629341 19629342 rs776348043 0 + C C C/T genomic single by-frequency 0.000033 0.004068 missense exact 1 1 EVA_EXAC, 2 C,T, 120866.000000,2.000000, 0.999983,0.000017, 734 chr21 19629344 19629345 rs761595911 0 + C C C/G genomic single unknown 0.000017 0.002876 missense exact 1 1 EVA_EXAC, 2 C,G, 120869.000000,1.000000, 0.999992,0.000008, 734 chr21 19629346 19629347 rs371994161 0 + A A A/G genomic single by-cluster 0.000017 0.002876 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 120889.000000,1.000000, 0.999992,0.000008, 734 chr21 19629354 19629355 rs147518542 0 + C C C/T genomic single by-cluster 0.000017 0.002876 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 120901.000000,1.000000, 0.999992,0.000008, 734 chr21 19629369 19629370 rs762990377 0 + G G A/G genomic single unknown 0.000017 0.002876 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120879.000000, 0.000008,0.999992, 734 chr21 19629370 19629371 rs139951722 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001075 0.023158 coding-synon exact 1 5 1000GENOMES,EVA_DECODE,EVA_EXAC,EVA_FINRISK,NHLBI-ESP, 2 A,G, 68.000000,125822.000000, 0.000540,0.999460, 734 chr21 19629372 19629373 rs751104061 0 + G G A/G genomic single by-frequency 0.000033 0.004068 missense exact 1 1 EVA_EXAC, 2 A,G, 2.000000,120872.000000, 0.000017,0.999983, 734 chr21 19629374 19629375 rs759207125 0 + C C C/G genomic single by-frequency 0.00005 0.004982 missense exact 1 MixedObserved 1 EVA_EXAC, 2 C,G, 120855.000000,3.000000, 0.999975,0.000025, 734 chr21 19629374 19629376 rs767767306 0 + CC CC -/CC genomic deletion unknown 0.000017 0.002876 frameshift range 1 MixedObserved 1 EVA_EXAC, 2 -,CC, 1.000000,120863.000000, 0.000008,0.999992, 734 chr21 19629376 19629377 rs767282571 0 + C C A/C genomic single unknown 0.000017 0.002877 coding-synon exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120831.000000, 0.000008,0.999992, 734 chr21 19629377 19629378 rs200173968 0 + T T C/T genomic single by-1000genomes 0 0 missense exact 1 1 1000GENOMES, 0 734 chr21 19629379 19629379 rs750576282 0 + - - -/GTATAC genomic insertion unknown 0.000017 0.002877 cds-indel between 1 1 EVA_EXAC, 2 -,GTATAC, 120835.000000,1.000000, 0.999992,0.000008, 734 chr21 19629388 19629389 rs752464313 0 + G G A/G genomic single unknown 0.000017 0.002879 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120671.000000, 0.000008,0.999992, 734 chr21 19629394 19629395 rs375260963 0 + T T A/T genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 A,T, 1.000000,13005.000000, 0.000077,0.999923, 734 chr21 19629407 19629408 rs757682563 0 + A A A/G genomic single by-frequency 0.000084 0.006463 missense exact 1 1 EVA_EXAC, 2 A,G, 119677.000000,5.000000, 0.999958,0.000042, 734 chr21 19629412 19629413 rs866472316 0 + G G A/G genomic single by-cluster 0 0 missense exact 1 1 YSAMUELS, 0 734 chr21 19629413 19629413 rs754797709 0 + - - -/A genomic insertion unknown 0.000017 0.002893 frameshift between 1 1 EVA_EXAC, 2 -,A, 119437.000000,1.000000, 0.999992,0.000008, 734 chr21 19629425 19629426 rs369187137 0 + A A A/G genomic single by-cluster 0.000017 0.002911 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 117969.000000,1.000000, 0.999992,0.000008, 734 chr21 19629430 19629431 rs371708972 0 + C C A/C genomic single by-cluster 0.000017 0.002918 nonsense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 1.000000,117473.000000, 0.000009,0.999991, 734 chr21 19629435 19629436 rs758972132 0 + A A A/G genomic single unknown 0.000017 0.002923 missense exact 1 1 EVA_EXAC, 2 A,G, 117033.000000,1.000000, 0.999991,0.000009, 734 chr21 19629436 19629437 rs779944626 0 + T T C/T genomic single by-frequency 0.000034 0.004136 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 2.000000,116910.000000, 0.000017,0.999983, 734 chr21 19629437 19629438 rs867489411 0 + G G A/G genomic single unknown 0 0 missense exact 1 1 YSAMUELS, 0 734 chr21 19629441 19629442 rs540693037 0 + C C A/C genomic single by-1000genomes 0.000017 0.002935 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 2.000000,121062.000000, 0.000017,0.999983, 734 chr21 19629450 19629451 rs768795438 0 + A A A/C genomic single unknown 0.000017 0.002948 intron exact 1 1 EVA_EXAC, 2 A,C, 115049.000000,1.000000, 0.999991,0.000009, 734 chr21 19629460 19629461 rs781383756 0 + G G C/G genomic single unknown 0.000018 0.002968 intron exact 1 1 EVA_EXAC, 2 C,G, 1.000000,113499.000000, 0.000009,0.999991, 734 chr21 19629467 19629468 rs748421817 0 + T T G/T genomic single unknown 0.000018 0.002978 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,112767.000000, 0.000009,0.999991, 734 chr21 19629472 19629473 rs565367785 0 + G G A/G genomic single by-1000genomes 0.000018 0.002984 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 2.000000,117280.000000, 0.000017,0.999983, 734 chr21 19629473 19629474 rs745810353 0 + A A A/G genomic single unknown 0.000018 0.002988 intron exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 111983.000000,1.000000, 0.999991,0.000009, 734 chr21 19629476 19629477 rs762751512 0 + T T C/T genomic single unknown 0.000018 0.002998 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,111217.000000, 0.000009,0.999991, 734 chr21 19629492 19629493 rs183172543 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19629495 19629496 rs770916386 0 + T T C/T genomic single by-frequency 0.000055 0.005264 intron exact 1 1 EVA_EXAC, 2 C,T, 3.000000,108257.000000, 0.000028,0.999972, 734 chr21 19629556 19629557 rs544962110 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19629586 19629587 rs187804471 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19629659 19629660 rs114151991 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19629717 19629718 rs866068515 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19629732 19629733 rs550283130 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19629744 19629745 rs570067167 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19629746 19629747 rs549477325 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19629753 19629754 rs143358113 0 + A A A/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19629791 19629792 rs546657639 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19629808 19629809 rs150482198 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19629815 19629816 rs538441173 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19629850 19629851 rs73318244 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.125874 0.217008 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 338.000000,4670.000000, 0.067492,0.932508, maf-5-some-pop 734 chr21 19629989 19629990 rs117587091 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 734 chr21 19629992 19629993 rs116856675 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19630002 19630003 rs748482843 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19630022 19630023 rs60397764 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.041819 0.138422 intron exact 1 7 1000GENOMES,EVA_DECODE,HAMMER_LAB,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4901.000000,107.000000, 0.978634,0.021366, maf-5-some-pop 734 chr21 19630072 19630072 rs562122097 0 + - - -/CT genomic insertion by-frequency,by-1000genomes 0.00319 0.039809 intron between 1 1 1000GENOMES, 2 -,CT, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19630073 19630074 rs116200566 0 + A A A/C/G genomic single by-frequency,by-1000genomes 0.014686 0.084586 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 4971.000000,8.000000,29.000000, 0.992612,0.001597,0.005791, 734 chr21 19630076 19630077 rs559001226 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19630078 19630079 rs577561166 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19630142 19630143 rs544823824 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19630150 19630151 rs138167256 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19630151 19630152 rs76027963 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19630157 19630158 rs73318246 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 734 chr21 19630197 19630198 rs369351316 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19630215 19630216 rs773814853 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19630226 19630227 rs763575814 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19630248 19630249 rs777038525 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19630258 19630258 rs761967349 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19630322 19630323 rs149559180 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI,SSMP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19630342 19630343 rs528078097 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19630343 19630344 rs144295415 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 734 chr21 19630453 19630454 rs73318250 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.118584 0.212673 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 317.000000,4691.000000, 0.063299,0.936701, maf-5-some-pop 734 chr21 19630455 19630456 rs138852557 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19630460 19630461 rs371638374 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19630502 19630502 rs111256584 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.073 0.176553 intron between 1 5 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,LUNTER, 2 -,T, 4818.000000,190.000000, 0.962061,0.037939, maf-5-some-pop 734 chr21 19630507 19630508 rs550376485 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19630518 19630519 rs66742725 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.145642 0.227177 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 396.000000,4612.000000, 0.079074,0.920927, maf-5-some-pop 734 chr21 19630547 19630548 rs867770908 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19630568 19630569 rs536168588 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19630599 19630600 rs767839451 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19630613 19630614 rs146011309 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19630660 19630661 rs566794464 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19630664 19630665 rs2824711 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.372391 0.217992 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1239.000000,3769.000000, 0.247404,0.752596, maf-5-some-pop,genotype-conflict 734 chr21 19630796 19630801 rs144893508 0 + TTTAT TTTAT -/TTTAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.369346 0.219673 intron range 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,TTTAT, 1224.000000,3784.000000, 0.244409,0.755591, maf-5-some-pop 734 chr21 19630798 19630799 rs142984032 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19630799 19630800 rs147901635 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 BL,GMI, 0 734 chr21 19630800 19630801 rs149526984 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 734 chr21 19630852 19630853 rs558632005 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19630854 19630855 rs139915773 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19630906 19630907 rs71319678 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19630958 19630959 rs761602719 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19630981 19630982 rs538310031 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19631025 19631026 rs553925258 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19631026 19631027 rs556820236 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19631045 19631046 rs752413039 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19631086 19631087 rs73206951 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 734 chr21 19631112 19631113 rs73893044 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4910.000000,98.000000, 0.980431,0.019569, maf-5-some-pop 734 chr21 19631118 19631119 rs560834648 0 + C C A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19631213 19631214 rs572601945 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19631255 19631255 rs139407582 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron between 1 2 1000GENOMES,LUNTER, 2 -,C, 4971.000000,37.000000, 0.992612,0.007388, 734 chr21 19631295 19631296 rs540230091 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19631320 19631321 rs368213458 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19631404 19631405 rs375538945 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 -,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19631437 19631438 rs201105765 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 2 1000GENOMES,SSMP, 2 -,A, 64.000000,4944.000000, 0.012780,0.987220, maf-5-some-pop 734 chr21 19631532 19631533 rs377030276 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19631559 19631560 rs370939057 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19631560 19631561 rs73318254 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.21695 0.247806 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4388.000000,620.000000, 0.876198,0.123802, maf-5-some-pop 734 chr21 19631568 19631569 rs532098652 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19631594 19631595 rs867146511 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19631621 19631622 rs77159934 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19631651 19631652 rs576274140 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19631652 19631653 rs532319270 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19631676 19631677 rs529830855 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19631686 19631687 rs544889464 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19631698 19631698 rs558795749 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 734 chr21 19631724 19631725 rs9980992 0 + A A A/G genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 A, 418.000000, 1.000000, 734 chr21 19631759 19631760 rs548237894 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19631772 19631773 rs184564571 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,C, 14.000000,4994.000000, 0.002796,0.997204, 734 chr21 19631773 19631774 rs142233818 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19631787 19631788 rs370251392 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19631797 19631798 rs572299476 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19631826 19631827 rs68183427 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.222035 0.248431 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4371.000000,637.000000, 0.872804,0.127196, maf-5-some-pop 734 chr21 19631835 19631842 rs560684791 0 + TTAAAAG TTAAAAG -/TTAAAAG genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 734 chr21 19631863 19631864 rs770146050 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19631896 19631897 rs570833013 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19631922 19631926 rs569158259 0 + TTAA TTAA -/TTAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TTAA, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19631943 19631944 rs778331126 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19631967 19631968 rs538373005 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19631988 19631989 rs150793881 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19631995 19631996 rs568715813 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19632030 19632031 rs774560898 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19632055 19632056 rs759603922 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 734 chr21 19632096 19632097 rs772050675 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19632099 19632100 rs775742102 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19632113 19632114 rs536047348 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19632168 19632169 rs73318258 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.052082 0.152737 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 134.000000,4874.000000, 0.026757,0.973243, maf-5-some-pop 734 chr21 19632172 19632173 rs139047822 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19632183 19632184 rs116038305 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4925.000000,83.000000, 0.983427,0.016573, 734 chr21 19632192 19632193 rs563060999 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19632352 19632353 rs12329889 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.228253 0.249052 intron exact 1 15 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4350.000000,658.000000, 0.868610,0.131390, maf-5-some-pop 734 chr21 19632381 19632382 rs576414417 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19632386 19632387 rs750262195 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19632399 19632400 rs543944245 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19632434 19632439 rs551713977 0 + TATAA TATAA -/TATAA genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 734 chr21 19632435 19632444 rs145142135 0 + ATAATATAA ATAATATAA -/ATAATATAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron range 1 2 1000GENOMES,LUNTER, 2 -,ATAATATAA, 53.000000,4955.000000, 0.010583,0.989417, 734 chr21 19632442 19632443 rs562241725 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19632453 19632454 rs529709556 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19632454 19632455 rs542017293 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19632467 19632468 rs773668422 0 + A A A/G genomic single unknown 0.000017 0.002952 intron exact 1 1 EVA_EXAC, 2 A,G, 114725.000000,1.000000, 0.999991,0.000009, 734 chr21 19632470 19632471 rs560057719 0 + C C A/C genomic single by-1000genomes 0.000017 0.002951 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 2.000000,119860.000000, 0.000017,0.999983, 734 chr21 19632476 19632477 rs778628196 0 + T T -/T genomic deletion unknown 0.000017 0.00294 intron exact 1 1 EVA_EXAC, 2 -,T, 1.000000,115721.000000, 0.000009,0.999991, 734 chr21 19632484 19632484 rs748131538 0 + - - -/TT genomic insertion unknown 0.000017 0.002922 intron between 1 1 EVA_EXAC, 2 -,TT, 117081.000000,1.000000, 0.999991,0.000009, 734 chr21 19632487 19632488 rs374990576 0 + T T C/T genomic single by-cluster,by-frequency 0.000034 0.004125 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,117504.000000, 0.000017,0.999983, 734 chr21 19632493 19632494 rs752374458 0 + A A A/C genomic single unknown 0.000017 0.002906 intron exact 1 1 EVA_EXAC, 2 A,C, 118423.000000,1.000000, 0.999992,0.000008, 734 chr21 19632499 19632500 rs760442159 0 + G G A/G/T genomic single by-frequency 0.00005 0.005018 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 2.000000,119109.000000,1.000000, 0.000017,0.999975,0.000008, 734 chr21 19632506 19632507 rs750817711 0 + T T A/T genomic single unknown 0.000017 0.00289 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,119683.000000, 0.000008,0.999992, 734 chr21 19632512 19632513 rs202029428 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.0001 0.007067 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 125108.000000,8.000000, 0.999936,0.000064, 734 chr21 19632525 19632526 rs766908913 0 + C C A/C genomic single unknown 0.000017 0.002877 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120815.000000, 0.000008,0.999992, 734 chr21 19632528 19632529 rs145418402 0 + C C C/G genomic single by-cluster 0.000017 0.002876 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,G, 120923.000000,1.000000, 0.999992,0.000008, 734 chr21 19632529 19632530 rs755031660 0 + A A A/G genomic single by-frequency 0.00005 0.004979 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120973.000000,3.000000, 0.999975,0.000025, 734 chr21 19632530 19632531 rs781291899 0 + G G A/G/T genomic single by-frequency 0.000033 0.004065 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 1.000000,121000.000000,1.000000, 0.000008,0.999983,0.000008, 734 chr21 19632533 19632534 rs571904993 0 + C C A/C/T genomic single by-cluster 0 0 missense exact 1 SingleClassTriAllelic 2 EVA-GONL,YSAMUELS, 0 734 chr21 19632540 19632541 rs756352158 0 + A A A/G genomic single by-frequency 0.00005 0.004975 missense exact 1 1 EVA_EXAC, 2 A,G, 121175.000000,3.000000, 0.999975,0.000025, 734 chr21 19632550 19632551 rs777373310 0 + T T C/T genomic single unknown 0.000016 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121269.000000, 0.000008,0.999992, 734 chr21 19632555 19632556 rs749113354 0 + C C A/C/T genomic single by-frequency 0.000033 0.00406 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,121294.000000,1.000000, 0.000008,0.999983,0.000008, 734 chr21 19632556 19632557 rs774331601 0 + A A A/T genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,T, 121291.000000,1.000000, 0.999992,0.000008, 734 chr21 19632563 19632564 rs745848499 0 + C C C/T genomic single by-frequency 0.000049 0.004973 missense exact 1 1 EVA_EXAC, 2 C,T, 121297.000000,3.000000, 0.999975,0.000025, 734 chr21 19632566 19632567 rs147276244 0 + G G A/G genomic single by-cluster 0.000099 0.007032 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 6.000000,121308.000000, 0.000049,0.999951, 734 chr21 19632567 19632568 rs207477758 0 + G G G/T genomic single unknown 0 0 missense exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 734 chr21 19632569 19632570 rs373089615 0 + G G A/G genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 A,G, 1.000000,13005.000000, 0.000077,0.999923, 734 chr21 19632575 19632576 rs867514245 0 + C C C/T genomic single unknown 0 0 missense exact 1 1 ILLUMINA, 0 734 chr21 19632576 19632577 rs775168241 0 + A A A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 121315.000000,1.000000, 0.999992,0.000008, 734 chr21 19632579 19632580 rs760352161 0 + A A A/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,T, 121309.000000,1.000000, 0.999992,0.000008, 734 chr21 19632583 19632584 rs552167262 0 + T T A/C/T genomic single by-1000genomes 0.000066 0.005742 coding-synon,missense exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 A,C,T, 3.000000,2.000000,126309.000000, 0.000024,0.000016,0.999960, 734 chr21 19632598 19632599 rs139672100 0 + A A A/G genomic single by-cluster 0.000016 0.002871 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 121291.000000,1.000000, 0.999992,0.000008, 734 chr21 19632614 19632615 rs766706152 0 + A A A/G genomic single unknown 0.000017 0.002872 intron exact 1 1 EVA_EXAC, 2 A,G, 121205.000000,1.000000, 0.999992,0.000008, 734 chr21 19632617 19632618 rs376857358 0 + T T C/T genomic single by-cluster 0.000017 0.002873 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121169.000000, 0.000008,0.999992, 734 chr21 19632619 19632620 rs755513402 0 + T T C/T genomic single by-frequency 0.00038 0.013772 intron exact 1 1 EVA_EXAC, 2 C,T, 23.000000,121127.000000, 0.000190,0.999810, 734 chr21 19632631 19632632 rs767539178 0 + T T C/T genomic single unknown 0.000017 0.002874 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121043.000000, 0.000008,0.999992, 734 chr21 19632646 19632647 rs752788991 0 + T T A/T genomic single unknown 0.000017 0.002876 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120859.000000, 0.000008,0.999992, 734 chr21 19632656 19632657 rs189310762 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,NHLBI-ESP, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19632657 19632658 rs781696396 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19632666 19632667 rs748326804 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19632677 19632678 rs149870612 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 734 chr21 19632744 19632745 rs373552859 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19632761 19632762 rs367761778 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19632762 19632763 rs548079462 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19632802 19632803 rs568575129 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19632804 19632805 rs766242948 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19632810 19632811 rs79619081 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 2 1000GENOMES,ILLUMINA, 2 G,T, 4975.000000,33.000000, 0.993411,0.006589, 734 chr21 19632828 19632829 rs751452041 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19632831 19632832 rs147589190 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19632845 19632846 rs780588380 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19632854 19632855 rs142022061 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19632881 19632882 rs540159148 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19632975 19632975 rs200392465 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron between 1 1 1000GENOMES, 2 -,A, 4975.000000,33.000000, 0.993411,0.006589, 734 chr21 19632991 19632992 rs144297413 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19633001 19633002 rs576477590 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19633012 19633013 rs192531813 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19633020 19633021 rs752371261 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633064 19633064 rs34053043 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19633088 19633089 rs552405168 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19633097 19633098 rs184521420 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19633137 19633143 rs775806675 0 + AACAAC AACAAC -/AACAAC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633137 19633137 rs558969072 0 + - - -/AAC genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 SSIP,SSMP, 0 734 chr21 19633140 19633143 rs779197801 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633160 19633161 rs574491646 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19633161 19633167 rs150607041 0 + AACAAA AACAAA -/AACAAA genomic deletion unknown 0 0 intron range 1 4 1000GENOMES,BUSHMAN,EVA-GONL,LUNTER, 0 734 chr21 19633163 19633164 rs111897955 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 MixedObserved 5 1000GENOMES,BCM-HGSC-SUB,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 734 chr21 19633163 19633169 rs542441610 0 + CAAAAA CAAAAA -/CAAAAA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HGSV, 0 734 chr21 19633164 19633167 rs796997087 0 + AAA AAA -/AAA genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 734 chr21 19633166 19633167 rs8126777 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.128976 0.218754 intron exact 1 9 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,WI_SSAHASNP, 2 A,C, 4661.000000,347.000000, 0.930711,0.069289, maf-5-some-pop 734 chr21 19633179 19633180 rs60373325 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.250168 0.25 intron exact 1 15 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4274.000000,734.000000, 0.853435,0.146565, maf-5-some-pop,maf-5-all-pops 734 chr21 19633187 19633188 rs546163924 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19633192 19633193 rs115600363 0 + A A A/G genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 734 chr21 19633193 19633194 rs116770628 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 734 chr21 19633197 19633198 rs73318262 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 734 chr21 19633212 19633213 rs746394778 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633233 19633234 rs558514142 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19633237 19633238 rs562033601 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19633244 19633245 rs565941622 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19633256 19633257 rs772145069 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633301 19633302 rs547556351 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19633357 19633358 rs566302108 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19633358 19633359 rs775484744 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633371 19633372 rs189233392 0 + A A A/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19633377 19633378 rs538440951 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19633385 19633386 rs570024310 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19633412 19633413 rs112401736 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004386 0.046661 intron exact 1 SingleClassTriAllelic 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,C,T, 5.000000,4997.000000,6.000000, 0.000998,0.997804,0.001198, 734 chr21 19633413 19633414 rs73206954 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 734 chr21 19633434 19633435 rs181247094 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19633438 19633439 rs767232882 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19633446 19633447 rs774292782 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633474 19633475 rs759439105 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633485 19633486 rs147942779 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 734 chr21 19633507 19633508 rs376587539 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19633527 19633528 rs752502502 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19633588 19633589 rs186487333 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19633615 19633616 rs752215514 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633622 19633623 rs73318263 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 734 chr21 19633626 19633627 rs868304172 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19633660 19633661 rs369778592 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19633677 19633678 rs56030723 0 + A A A/T genomic single by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 MixedObserved 3 1000GENOMES,HGSV,PJP, 2 A,T, 4856.000000,152.000000, 0.969649,0.030351, maf-5-some-pop 734 chr21 19633677 19633678 rs567763136 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.248188 0.249993 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,A, 727.000000,4281.000000, 0.145168,0.854832, maf-5-some-pop,maf-5-all-pops 734 chr21 19633677 19633679 rs869200752 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 BUSHMAN, 0 734 chr21 19633677 19633677 rs529669826 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 SSIP, 0 734 chr21 19633680 19633681 rs865970081 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19633692 19633692 rs60033114 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 734 chr21 19633693 19633694 rs576424389 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19633704 19633705 rs760271248 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19633708 19633709 rs534570331 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19633723 19633724 rs373923316 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19633757 19633758 rs189939370 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19633777 19633778 rs529261145 0 + T T A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19633780 19633781 rs547916964 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19633821 19633822 rs755813634 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633843 19633844 rs559596846 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19633852 19633853 rs554465918 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19633874 19633875 rs574061342 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 734 chr21 19633929 19633930 rs533215431 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 734 chr21 19633939 19633940 rs763781735 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19633940 19633941 rs543050315 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634004 19634005 rs756836752 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19634011 19634012 rs563020899 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19634034 19634035 rs569887600 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634070 19634071 rs757658105 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19634086 19634087 rs576575675 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19634101 19634102 rs537378878 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19634114 19634115 rs17780913 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,PERLEGEN,SSMP, 2 A,G, 4952.000000,56.000000, 0.988818,0.011182, 734 chr21 19634125 19634126 rs73318265 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 734 chr21 19634133 19634134 rs535105439 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19634189 19634190 rs58902928 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 734 chr21 19634190 19634191 rs572058913 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19634197 19634198 rs73206955 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.260227 0.249791 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 770.000000,4238.000000, 0.153754,0.846246, maf-5-some-pop 734 chr21 19634201 19634202 rs148158428 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19634203 19634204 rs547743300 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19634213 19634214 rs60061244 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,HGSV,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 734 chr21 19634220 19634221 rs543779056 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634229 19634230 rs780182081 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19634233 19634234 rs555370009 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19634248 19634249 rs561581329 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19634276 19634277 rs573833619 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19634277 19634278 rs530099594 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19634291 19634292 rs113986172 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19634298 19634299 rs550246956 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19634318 19634319 rs559665477 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634342 19634343 rs533272570 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634349 19634352 rs59086838 0 + TAA TAA -/TAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron range 1 2 1000GENOMES,LUNTER, 2 -,TAA, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 734 chr21 19634355 19634358 rs796146158 0 + TAA TAA -/TAA genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 734 chr21 19634370 19634371 rs545078791 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19634389 19634390 rs760023227 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 734 chr21 19634472 19634473 rs563576904 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634495 19634496 rs373410886 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19634496 19634497 rs768723816 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19634501 19634502 rs180746751 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19634529 19634530 rs549699485 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634545 19634546 rs111554189 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,BUSHMAN, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19634581 19634582 rs9978011 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.293551 0.246177 intron exact 1 16 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 895.000000,4113.000000, 0.178714,0.821286, maf-5-some-pop 734 chr21 19634589 19634590 rs528746345 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19634593 19634594 rs547098371 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19634599 19634600 rs9978699 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.499138 0.020749 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2400.000000,2608.000000, 0.479233,0.520767, maf-5-some-pop,maf-5-all-pops 734 chr21 19634652 19634653 rs539573992 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634659 19634660 rs185106721 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19634666 19634667 rs534958820 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19634678 19634679 rs569912977 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634688 19634689 rs774052609 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19634689 19634690 rs9979144 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.319856 0.240042 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4007.000000,1001.000000, 0.800120,0.199880, maf-5-some-pop,microattr-tpa 734 chr21 19634700 19634701 rs555497550 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634723 19634724 rs560280079 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19634744 19634745 rs577021718 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19634748 19634749 rs541292445 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19634750 19634751 rs759512330 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19634755 19634756 rs59355295 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 734 chr21 19634777 19634778 rs577601598 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19634780 19634781 rs570919542 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19634797 19634798 rs545140333 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19634818 19634819 rs9978914 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.349013 0.229557 intron exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3880.000000,1128.000000, 0.774760,0.225240, maf-5-some-pop 734 chr21 19634848 19634849 rs113167742 0 + G G G/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,WEILL_CORNELL_DGM, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19634849 19634850 rs530869557 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19634851 19634852 rs760196775 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19634890 19634891 rs116691989 0 + C C C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 734 chr21 19634906 19634907 rs73206959 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 intron exact 1 10 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4882.000000,126.000000, 0.974840,0.025160, maf-5-some-pop 734 chr21 19634938 19634939 rs531077846 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19634956 19634957 rs140949722 0 + T T C/T genomic single by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 734 chr21 19634958 19634959 rs150181430 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19635000 19635001 rs138807128 0 + T T C/T genomic single by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 734 chr21 19635032 19635033 rs532954161 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19635064 19635065 rs370224054 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000066 0.005763 intron exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,T, 5.000000,125435.000000, 0.000040,0.999960, 734 chr21 19635067 19635068 rs778052693 0 + C C C/T genomic single unknown 0.000017 0.002882 intron exact 1 1 EVA_EXAC, 2 C,T, 120423.000000,1.000000, 0.999992,0.000008, 734 chr21 19635074 19635075 rs749531135 0 + A A A/G genomic single unknown 0.000017 0.002879 intron exact 1 1 EVA_EXAC, 2 A,G, 120627.000000,1.000000, 0.999992,0.000008, 734 chr21 19635076 19635077 rs569778144 0 + C C A/C/G genomic single by-1000genomes 0.000017 0.002879 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 A,C,G, 1.000000,125662.000000,1.000000, 0.000008,0.999984,0.000008, 734 chr21 19635083 19635084 rs374118951 0 + C C C/T genomic single by-cluster,by-frequency 0.000149 0.008629 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 120819.000000,9.000000, 0.999925,0.000074, 734 chr21 19635092 19635094 rs758321569 0 + TG TG -/TG genomic deletion unknown 0.000017 0.002875 intron range 1 1 EVA_EXAC, 2 -,TG, 1.000000,120983.000000, 0.000008,0.999992, 734 chr21 19635096 19635097 rs745758656 0 + T T G/T genomic single unknown 0.000017 0.002874 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121081.000000, 0.000008,0.999992, 734 chr21 19635101 19635102 rs772155794 0 + T T C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121139.000000, 0.000008,0.999992, 734 chr21 19635103 19635104 rs775078315 0 + G G A/G genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121165.000000, 0.000008,0.999992, 734 chr21 19635106 19635107 rs746519727 0 + G G C/G genomic single by-frequency 0.000033 0.004062 intron,splice-3 exact 1 1 EVA_EXAC, 2 C,G, 2.000000,121184.000000, 0.000017,0.999983, 734 chr21 19635108 19635109 rs768113532 0 + T T C/T genomic single by-frequency 0.000033 0.004062 coding-synon,intron exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121204.000000, 0.000017,0.999983, 734 chr21 19635109 19635110 rs776328770 0 + A A A/C/G genomic single by-frequency 0.000033 0.004062 intron,missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,G, 121206.000000,1.000000,1.000000, 0.999983,0.000008,0.000008, 734 chr21 19635115 19635116 rs79201554 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007936 0.06249 intron,missense exact 1 8 1000GENOMES,EVA_EXAC,EXOME_CHIP,HAMMER_LAB,ILLUMINA,NHLBI-ESP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 125697.000000,549.000000, 0.995651,0.004349, maf-5-some-pop 734 chr21 19635136 19635137 rs765606559 0 + A A A/C genomic single unknown 0 0 intron,missense exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19635137 19635138 rs774721237 0 + T T C/T genomic single unknown 0.000016 0.002871 intron,missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121313.000000, 0.000008,0.999992, 734 chr21 19635139 19635140 rs555296356 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000082 0.006419 intron,missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 126319.000000,7.000000, 0.999945,0.000055, 734 chr21 19635140 19635141 rs768016396 0 + C C C/T genomic single unknown 0.000016 0.002871 intron,missense exact 1 1 EVA_EXAC, 2 C,T, 121315.000000,1.000000, 0.999992,0.000008, 734 chr21 19635143 19635144 rs753271143 0 + C C C/T genomic single unknown 0.000016 0.002871 intron,missense exact 1 1 EVA_EXAC, 2 C,T, 121327.000000,1.000000, 0.999992,0.000008, 734 chr21 19635148 19635149 rs375567185 0 + C C A/C/T genomic single by-cluster,by-frequency 0.000049 0.004972 intron,missense exact 1 SingleClassTriAllelic,InconsistentAlleles 2 EVA_EXAC,SSMP, 2 A,C, 3.000000,121323.000000, 0.000025,0.999975, 734 chr21 19635156 19635157 rs764128639 0 + C C C/T genomic single unknown 0.000016 0.002871 coding-synon,intron exact 1 1 EVA_EXAC, 2 C,T, 121327.000000,1.000000, 0.999992,0.000008, 734 chr21 19635162 19635163 rs754057892 0 + G G C/G genomic single unknown 0.000016 0.002871 coding-synon,intron exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121327.000000, 0.000008,0.999992, 734 chr21 19635163 19635164 rs142087135 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000363 0.01346 intron,missense exact 1 5 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,T, 126305.000000,31.000000, 0.999755,0.000245, 734 chr21 19635169 19635170 rs778799224 0 + G G A/G genomic single unknown 0.000016 0.002871 intron,missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121321.000000, 0.000008,0.999992, 734 chr21 19635195 19635196 rs750824091 0 + G G C/G genomic single unknown 0 0 intron,missense exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19635209 19635210 rs750254375 0 + G G G/T genomic single unknown 0.000017 0.002874 intron,missense exact 1 1 EVA_EXAC, 2 G,T, 121095.000000,1.000000, 0.999992,0.000008, 734 chr21 19635210 19635211 rs758340682 0 + G G A/G genomic single unknown 0.000017 0.002874 intron,splice-5 exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121081.000000, 0.000008,0.999992, 734 chr21 19635215 19635216 rs201620548 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000017 0.002875 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,126006.000000, 0.000016,0.999984, 734 chr21 19635224 19635225 rs553224915 0 + T T A/C/T genomic single by-1000genomes 0.000033 0.004069 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 A,C,T, 1.000000,2.000000,125811.000000, 0.000008,0.000016,0.999976, 734 chr21 19635246 19635247 rs780600703 0 + C C C/T genomic single by-frequency 0.000033 0.004083 intron exact 1 1 EVA_EXAC, 2 C,T, 119942.000000,2.000000, 0.999983,0.000017, 734 chr21 19635252 19635253 rs747791201 0 + A A A/G genomic single unknown 0.000017 0.002893 intron exact 1 1 EVA_EXAC, 2 A,G, 119437.000000,1.000000, 0.999992,0.000008, 734 chr21 19635256 19635257 rs769346309 0 + G G A/G genomic single by-frequency 0.000017 0.002897 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,119141.000000, 0.000008,0.999992, 734 chr21 19635262 19635263 rs771110633 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19635267 19635268 rs190703097 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19635398 19635399 rs146325840 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19635411 19635412 rs556900834 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19635435 19635436 rs774419074 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19635469 19635470 rs758933407 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19635479 19635480 rs575351885 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19635488 19635489 rs138704796 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 734 chr21 19635494 19635495 rs561355711 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19635506 19635507 rs183435448 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19635535 19635536 rs536646331 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19635546 19635547 rs373864343 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19635568 19635569 rs149288659 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19635585 19635586 rs144631725 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19635601 19635602 rs148469081 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19635612 19635613 rs73318273 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065214 0.168387 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 169.000000,4839.000000, 0.033746,0.966254, maf-5-some-pop 734 chr21 19635630 19635631 rs563246915 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19635640 19635641 rs76790129 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, maf-5-some-pop 734 chr21 19635665 19635666 rs185818892 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19635704 19635705 rs775223962 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19635721 19635722 rs781294215 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19635722 19635723 rs73206961 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.046395 0.145069 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 119.000000,4889.000000, 0.023762,0.976238, maf-5-some-pop 734 chr21 19635773 19635774 rs554267350 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19635791 19635792 rs191725175 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19635792 19635793 rs73206963 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.043364 0.140809 intron exact 1 SingleClassTriAllelic 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,G, 109.000000,2.000000,4897.000000, 0.021765,0.000399,0.977835, maf-5-some-pop,maf-5-all-pops 734 chr21 19635794 19635795 rs183183132 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19635836 19635837 rs187864445 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19635889 19635890 rs575577079 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19635943 19635944 rs536385558 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19636007 19636008 rs192941728 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636013 19636014 rs573209214 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636019 19636020 rs11088671 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392325 0.205532 intron exact 1 25 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3666.000000,1342.000000, 0.732029,0.267971, maf-5-some-pop 734 chr21 19636031 19636032 rs182106047 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19636067 19636068 rs372197119 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19636119 19636120 rs36042528 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19636142 19636143 rs58468524 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.212122 0.247114 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4404.000000,604.000000, 0.879393,0.120607, maf-5-some-pop 734 chr21 19636149 19636150 rs544900636 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636152 19636153 rs186972120 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636174 19636175 rs2180022 0 - C C A/G genomic single unknown 0 0 intron exact 1 2 ABI,TSC-CSHL, 0 734 chr21 19636176 19636177 rs73206966 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.200183 0.244986 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4443.000000,565.000000, 0.887181,0.112819, maf-5-some-pop 734 chr21 19636198 19636199 rs11911895 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.020942 0.100162 intron exact 1 6 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 734 chr21 19636200 19636201 rs142516373 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636205 19636206 rs192492230 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636217 19636218 rs546408638 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636218 19636219 rs34968795 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19636218 19636218 rs796358661 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 734 chr21 19636232 19636233 rs397867659 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19636253 19636254 rs571084393 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19636270 19636271 rs115321651 0 + T T C/T genomic single by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 1 1000GENOMES, 2 C,T, 32.000000,4976.000000, 0.006390,0.993610, 734 chr21 19636305 19636306 rs17836349 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.053216 0.154195 intron exact 1 9 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_SVP,GMI,KRIBB_YJKIM,PERLEGEN,SSMP, 2 A,G, 4871.000000,137.000000, 0.972644,0.027356, maf-5-some-pop 734 chr21 19636384 19636385 rs377465929 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19636442 19636443 rs536652627 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19636497 19636498 rs554626962 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19636532 19636533 rs530460266 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19636586 19636587 rs147151066 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 734 chr21 19636589 19636590 rs768260168 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19636641 19636642 rs776324082 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19636647 19636654 rs376948927 0 + AAGAAAT AAGAAAT -/AAGAAAT genomic deletion by-cluster 0 0 intron range 1 2 HAMMER_LAB,LUNTER, 0 734 chr21 19636669 19636670 rs534257841 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636691 19636692 rs552050377 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19636695 19636696 rs67247684 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.100588 0.200439 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4742.000000,266.000000, 0.946885,0.053115, maf-5-some-pop 734 chr21 19636707 19636708 rs764859976 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19636708 19636709 rs577499892 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19636718 19636719 rs750107694 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19636720 19636721 rs544962290 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19636743 19636744 rs556815623 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19636744 19636745 rs753091783 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19636779 19636780 rs574988387 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19636791 19636792 rs374389989 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19636842 19636843 rs185060155 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19636851 19636852 rs763183739 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19636857 19636857 rs371963056 0 + - - -/GCA genomic insertion by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron between 1 2 1000GENOMES,LUNTER, 2 -,GCA, 4984.000000,24.000000, 0.995208,0.004792, 734 chr21 19636859 19636860 rs528215586 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19636861 19636861 rs373906390 0 + - - -/CAG genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 734 chr21 19636896 19636897 rs9974167 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.236144 0.249616 intron exact 1 14 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 685.000000,4323.000000, 0.136781,0.863219, maf-5-some-pop 734 chr21 19636897 19636898 rs144336028 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19636918 19636918 rs771376566 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19636919 19636920 rs11908856 0 + A A A/T genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 734 chr21 19636935 19636939 rs564344974 0 + AAAA AAAA -/AAAA genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 734 chr21 19636937 19636941 rs869301970 0 + AAAA AAAA -/AAAA genomic deletion unknown 0 0 intron range 1 1 BCMHGSC_JDW, 0 734 chr21 19636939 19636940 rs57961061 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 intron exact 1 7 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,WEILL_CORNELL_DGM, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 734 chr21 19636941 19636942 rs76837184 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19636977 19636978 rs11911907 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.08108 0.184299 intron exact 1 12 1000GENOMES,ABI,AFFY,BUSHMAN,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4796.000000,212.000000, 0.957668,0.042332, maf-5-some-pop 734 chr21 19637006 19637007 rs376662649 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19637039 19637040 rs371106527 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19637044 19637045 rs777854790 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19637074 19637075 rs550313111 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19637080 19637080 rs749461056 0 + - - -/AAGGGTG genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19637082 19637083 rs766784330 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637096 19637097 rs374353605 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19637131 19637132 rs752036838 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637159 19637160 rs77123254 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637178 19637188 rs747321803 0 + GCACCAGTAA GCACCAGTAA -/GCACCAGTAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637181 19637182 rs568078334 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 4 1000GENOMES,DDI,JMKIDD_LAB,SSIP, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19637207 19637208 rs192851132 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 4992.000000,16.000000, 0.996805,0.003195, 734 chr21 19637211 19637212 rs140560779 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19637221 19637222 rs755515788 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637222 19637223 rs534324229 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19637228 19637229 rs8127574 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.37138 0.218556 intron exact 1 20 1000GENOMES,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 1234.000000,3774.000000, 0.246406,0.753594, maf-5-some-pop 734 chr21 19637243 19637244 rs571106768 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637254 19637255 rs538446615 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 G,T, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19637279 19637280 rs117605972 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19637309 19637310 rs150028977 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637362 19637363 rs145410613 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19637369 19637370 rs149228748 0 + T T C/T genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 734 chr21 19637373 19637374 rs756230526 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637394 19637395 rs145159925 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19637395 19637396 rs539984303 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19637410 19637411 rs8129348 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.396546 0.202545 intron exact 1 23 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 3643.000000,1365.000000, 0.727436,0.272564, maf-5-some-pop,maf-5-all-pops 734 chr21 19637424 19637425 rs8127771 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.264358 0.249587 intron exact 1 17 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 785.000000,4223.000000, 0.156749,0.843251, maf-5-some-pop 734 chr21 19637428 19637429 rs771717308 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637441 19637442 rs113036139 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19637448 19637449 rs562514578 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637467 19637468 rs8127896 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.264358 0.249587 intron exact 1 16 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 785.000000,4223.000000, 0.156749,0.843251, maf-5-some-pop 734 chr21 19637477 19637478 rs185355552 0 + A A A/C genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,C, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19637491 19637492 rs746914601 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637494 19637494 rs199551758 0 + - - -/TG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19637497 19637498 rs8129505 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.260504 0.249779 intron exact 1 12 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4237.000000,771.000000, 0.846046,0.153954, maf-5-some-pop,maf-5-all-pops 734 chr21 19637499 19637500 rs527684653 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19637508 19637509 rs189400353 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028932 0.116743 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 71.000000,4765.000000, 0.014682,0.985318, 734 chr21 19637509 19637513 rs142155198 0 + ACAC ACAC -/ACAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.06725 0.170595 intron range 1 MixedObserved 1 1000GENOMES, 2 -,ACAC, 172.000000,4765.000000, 0.034839,0.965161, maf-5-some-pop 734 chr21 19637509 19637511 rs747308423 0 + AC AC -/AC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSMP, 0 734 chr21 19637510 19637511 rs11909590 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.056231 0.157967 intron exact 1 10 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4863.000000,145.000000, 0.971046,0.028954, maf-5-some-pop 734 chr21 19637512 19637513 rs868692820 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637520 19637521 rs538309990 0 + C C C/T genomic single by-frequency,by-1000genomes 0.065214 0.168387 intron exact 1 1 1000GENOMES, 2 C,T, 4839.000000,169.000000, 0.966254,0.033746, maf-5-some-pop 734 chr21 19637522 19637523 rs11909592 0 + C C C/T genomic single by-cluster,by-2hit-2allele,by-hapmap 0 0 intron exact 1 2 CSHL-HAPMAP,WEILL_CORNELL_DGM, 0 734 chr21 19637529 19637530 rs138826954 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.168785 0.236441 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 466.000000,4542.000000, 0.093051,0.906949, maf-5-some-pop 734 chr21 19637531 19637532 rs140492216 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4937.000000,71.000000, 0.985823,0.014177, 734 chr21 19637535 19637536 rs76298540 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.068189 0.171594 intron exact 1 3 1000GENOMES,ENSEMBL,WEILL_CORNELL_DGM, 2 A,G, 177.000000,4831.000000, 0.035343,0.964657, maf-5-some-pop 734 chr21 19637536 19637538 rs369683491 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 2 LUNTER,SSIP, 0 734 chr21 19637545 19637546 rs552774459 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19637566 19637566 rs760474914 0 + - - -/TA genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19637578 19637580 rs200675808 0 + TA TA -/TA genomic deletion by-cluster,by-frequency,by-1000genomes 0.095934 0.196885 intron range 1 6 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TA, 253.000000,4755.000000, 0.050519,0.949481, maf-5-some-pop 734 chr21 19637579 19637580 rs554164942 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4941.000000,67.000000, 0.986621,0.013379, 734 chr21 19637580 19637580 rs772193843 0 + - - -/TA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637581 19637582 rs868044772 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637587 19637588 rs572355371 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4933.000000,75.000000, 0.985024,0.014976, 734 chr21 19637593 19637594 rs148106067 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 53.000000,4955.000000, 0.010583,0.989417, 734 chr21 19637595 19637596 rs868283997 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637596 19637598 rs768617134 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 DuplicateObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637596 19637596 rs201101374 0 + - - -/TA genomic insertion by-cluster,by-frequency,by-1000genomes 0.275197 0.248727 intron between 1 DuplicateObserved 3 1000GENOMES,EVA_GENOME_DK,LUNTER, 2 -,TA, 4183.000000,825.000000, 0.835264,0.164736, maf-5-some-pop,maf-5-all-pops 734 chr21 19637597 19637598 rs867070884 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637598 19637598 rs746813869 0 + - - -/TA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637604 19637605 rs536660378 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 734 chr21 19637605 19637607 rs563361586 0 + AC AC -/AC genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 734 chr21 19637606 19637607 rs8129138 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,GMI,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19637608 19637609 rs770870802 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_GENOME_DK,PADH-LAB_SPU, 0 734 chr21 19637610 19637611 rs868506268 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637614 19637615 rs867098157 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637624 19637625 rs12185819 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SC_SNP, 0 734 chr21 19637626 19637627 rs12185820 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.297382 0.245469 intron exact 1 3 1000GENOMES,SC_SNP,WEILL_CORNELL_DGM, 2 C,T, 4098.000000,910.000000, 0.818291,0.181709, maf-5-some-pop,maf-5-all-pops 734 chr21 19637627 19637627 rs149734647 0 + - - -/ACATAT/ATAT/ATATAT genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 rs-cluster-nonoverlapping-alleles 734 chr21 19637628 19637629 rs181828611 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 40.000000,4968.000000, 0.007987,0.992013, 734 chr21 19637634 19637635 rs141259556 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19637639 19637639 rs36075764 0 + - - -/ATAT genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19637651 19637652 rs762713817 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637674 19637675 rs186382564 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19637677 19637678 rs150339025 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19637678 19637679 rs560466900 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19637685 19637686 rs527545474 0 + A A A/G genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 734 chr21 19637699 19637700 rs552621615 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637716 19637717 rs564448954 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19637735 19637736 rs867755500 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637747 19637748 rs116605548 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 MixedObserved 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 194.000000,4814.000000, 0.038738,0.961262, maf-5-some-pop 734 chr21 19637747 19637750 rs386816743 0 + TAA TAA CAG/TAA genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 734 chr21 19637749 19637750 rs114218231 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074843 0.178382 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4813.000000,195.000000, 0.961062,0.038938, maf-5-some-pop 734 chr21 19637777 19637778 rs868441644 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19637834 19637834 rs151230903 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron between 1 2 1000GENOMES,LUNTER, 2 -,A, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19637840 19637841 rs368166073 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19637858 19637859 rs777932049 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19637869 19637870 rs192379392 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637902 19637903 rs116477132 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 194.000000,4814.000000, 0.038738,0.961262, maf-5-some-pop 734 chr21 19637933 19637934 rs547929209 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637968 19637969 rs566047329 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19637981 19637982 rs183296710 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19637985 19637986 rs558158480 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19637987 19637988 rs576414684 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19638039 19638040 rs9976819 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.216349 0.247725 intron exact 1 15 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 618.000000,4390.000000, 0.123403,0.876597, maf-5-some-pop 734 chr21 19638040 19638041 rs779992727 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638059 19638060 rs746861328 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638075 19638076 rs73318285 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 5 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19638077 19638078 rs768127022 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19638149 19638149 rs748823609 0 + - - -/TTC genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19638150 19638153 rs71329777 0 + ATA ATA ATA/TCTTCC genomic in-del unknown 0.5 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HUMANGENOME_JCVI, 2 ATA,TCTTCC, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19638150 19638151 rs376903046 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 3 BILGI_BIOE,EVA_DECODE,EVA_GENOME_DK, 0 734 chr21 19638150 19638151 rs574428024 0 + A A A/T genomic single by-frequency,by-1000genomes 0.077784 0.181223 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 4805.000000,203.000000, 0.959465,0.040535, maf-5-some-pop 734 chr21 19638150 19638150 rs200303430 0 + - - -/TC genomic insertion by-cluster,by-frequency,by-1000genomes 0.077784 0.181223 intron between 1 MixedObserved 1 1000GENOMES, 2 -,TC, 4805.000000,203.000000, 0.959465,0.040535, maf-5-some-pop 734 chr21 19638152 19638153 rs374071437 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron exact 1 MixedObserved 4 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,PADH-LAB_SPU, 2 A,C, 4807.000000,201.000000, 0.959864,0.040136, maf-5-some-pop 734 chr21 19638152 19638152 rs370280449 0 + - - -/C/CTTC/TTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.077784 0.181223 intron between 1 MixedObserved,InconsistentAlleles 6 1000GENOMES,BILGI_BIOE,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,C, 4805.000000,203.000000, 0.959465,0.040535, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 734 chr21 19638162 19638163 rs116532293 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 51.000000,4957.000000, 0.010184,0.989816, maf-5-some-pop 734 chr21 19638166 19638167 rs572394946 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19638168 19638169 rs532432947 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19638207 19638208 rs546100985 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19638222 19638223 rs138030415 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007743 0.061739 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 G,T, 439.000000,113915.000000, 0.003839,0.996161, 734 chr21 19638224 19638225 rs759891063 0 + T T G/T genomic single unknown 0.000018 0.003022 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,109525.000000, 0.000009,0.999991, 734 chr21 19638228 19638228 rs777213424 0 + - - -/AAG genomic insertion unknown 0.000018 0.003019 intron between 1 1 EVA_EXAC, 2 -,AAG, 109699.000000,1.000000, 0.999991,0.000009, 734 chr21 19638229 19638230 rs772484303 0 + A A A/T genomic single by-frequency 0.000036 0.004269 intron exact 1 1 EVA_EXAC, 2 A,T, 109738.000000,2.000000, 0.999982,0.000018, 734 chr21 19638232 19638233 rs531602552 0 + A A A/C genomic single by-1000genomes 0.000036 0.004264 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 114979.000000,3.000000, 0.999974,0.000026, 734 chr21 19638234 19638235 rs543751761 0 + T T G/T genomic single by-1000genomes 0.000018 0.003014 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 2.000000,115084.000000, 0.000017,0.999983, 734 chr21 19638239 19638240 rs562049690 0 + G G A/G genomic single by-1000genomes 0.000018 0.003004 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 2.000000,115788.000000, 0.000017,0.999983, 734 chr21 19638243 19638244 rs753885293 0 + C C A/C/G genomic single by-frequency 0.000053 0.005172 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,G, 1.000000,112157.000000,2.000000, 0.000009,0.999973,0.000018, 734 chr21 19638247 19638248 rs529353840 0 + A A A/T genomic single by-1000genomes 0.000229 0.010693 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 118630.000000,14.000000, 0.999882,0.000118, 734 chr21 19638251 19638252 rs377673556 0 + T T A/T genomic single by-cluster,by-frequency 0.000157 0.008849 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 9.000000,114893.000000, 0.000078,0.999922, 734 chr21 19638254 19638257 rs746512130 0 + TTC TTC -/TTC genomic deletion unknown 0.000017 0.002944 intron range 1 1 EVA_EXAC, 2 -,TTC, 1.000000,115379.000000, 0.000009,0.999991, 734 chr21 19638260 19638261 rs781213599 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638261 19638262 rs758248997 0 + G G A/G genomic single by-frequency 0.000034 0.004125 intron exact 1 1 EVA_EXAC, 2 A,G, 2.000000,117554.000000, 0.000017,0.999983, 734 chr21 19638266 19638267 rs547694897 0 + T T C/T genomic single by-1000genomes 0.000017 0.002905 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,123458.000000, 0.000016,0.999984, 734 chr21 19638272 19638273 rs751476320 0 + A A A/T genomic single by-frequency 0.000067 0.005791 nonsense,missense exact 1 1 EVA_EXAC, 2 A,T, 119272.000000,4.000000, 0.999966,0.000034, 734 chr21 19638278 19638279 rs754898068 0 + G G G/T genomic single by-cluster,by-frequency 0.000033 0.004088 nonsense,missense exact 1 2 EVA_EXAC,ILLUMINA, 2 G,T, 119666.000000,2.000000, 0.999983,0.000017, 734 chr21 19638286 19638287 rs780697087 0 + A A A/G genomic single unknown 0.000017 0.002886 coding-synon,missense exact 1 1 EVA_EXAC, 2 A,G, 120051.000000,1.000000, 0.999992,0.000008, 734 chr21 19638294 19638295 rs747618930 0 + A A A/C genomic single unknown 0.000017 0.002882 coding-synon,missense exact 1 1 EVA_EXAC, 2 A,C, 120379.000000,1.000000, 0.999992,0.000008, 734 chr21 19638301 19638302 rs769361538 0 + T T C/T genomic single unknown 0.000017 0.002879 coding-synon,missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120605.000000, 0.000008,0.999992, 734 chr21 19638302 19638303 rs777392789 0 + C C A/C genomic single unknown 0.000017 0.002879 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120619.000000, 0.000008,0.999992, 734 chr21 19638305 19638306 rs148493206 0 + C C C/T genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 C,T, 13005.000000,1.000000, 0.999923,0.000077, 734 chr21 19638313 19638314 rs748988177 0 + A A A/C genomic single by-frequency 0.000033 0.004068 coding-synon,missense exact 1 1 EVA_EXAC, 2 A,C, 120838.000000,2.000000, 0.999983,0.000017, 734 chr21 19638321 19638322 rs772394923 0 + G G A/G genomic single unknown 0.000017 0.002876 coding-synon,missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120933.000000, 0.000008,0.999992, 734 chr21 19638322 19638323 rs775862023 0 + A A A/G genomic single unknown 0.000017 0.002875 coding-synon,missense exact 1 1 EVA_EXAC, 2 A,G, 120947.000000,1.000000, 0.999992,0.000008, 734 chr21 19638324 19638325 rs747499700 0 + T T C/T genomic single unknown 0.000017 0.002875 coding-synon,missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120961.000000, 0.000008,0.999992, 734 chr21 19638325 19638326 rs769054020 0 + A A A/G genomic single unknown 0.000017 0.002875 coding-synon,missense exact 1 1 EVA_EXAC, 2 A,G, 120971.000000,1.000000, 0.999992,0.000008, 734 chr21 19638326 19638327 rs375116292 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001949 0.031155 missense exact 1 SingleClassTriAllelic 4 1000GENOMES,EVA_EXAC,NHLBI-ESP,SSIP, 3 C,G,T, 125860.000000,130.000000,2.000000, 0.998952,0.001032,0.000016, 734 chr21 19638337 19638338 rs765461923 0 + A A A/T genomic single unknown 0.000017 0.002875 missense exact 1 1 EVA_EXAC, 2 A,T, 121011.000000,1.000000, 0.999992,0.000008, 734 chr21 19638348 19638349 rs773541082 0 + A A A/C genomic single unknown 0.000017 0.002875 missense exact 1 1 EVA_EXAC, 2 A,C, 120989.000000,1.000000, 0.999992,0.000008, 734 chr21 19638349 19638350 rs763303055 0 + G G G/T genomic single by-frequency 0.000033 0.004066 missense exact 1 1 EVA_EXAC, 2 G,T, 120964.000000,2.000000, 0.999983,0.000017, 734 chr21 19638352 19638353 rs867471025 0 + T T G/T genomic single by-cluster 0 0 nonsense,stop-loss exact 1 1 ILLUMINA, 0 734 chr21 19638355 19638355 rs770292805 0 + - - -/TAAC genomic insertion unknown 0.000017 0.002876 frameshift between 1 1 EVA_EXAC, 2 -,TAAC, 120903.000000,1.000000, 0.999992,0.000008, 734 chr21 19638358 19638359 rs776431518 0 + C C -/C genomic deletion unknown 0.000017 0.002877 frameshift,untranslated-3 exact 1 1 EVA_EXAC, 2 -,C, 1.000000,120841.000000, 0.000008,0.999992, 734 chr21 19638372 19638373 rs377191006 0 + T T C/T genomic single by-cluster,by-frequency 0.000533 0.016322 missense,untranslated-3 exact 1 4 EVA_EXAC,EVA_MGP,ILLUMINA,NHLBI-ESP, 2 C,T, 32.000000,119928.000000, 0.000267,0.999733, 734 chr21 19638383 19638384 rs576531181 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000135 0.008229 missense,untranslated-3 exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_EXAC,SSIP, 3 A,G,T, 4.000000,123097.000000,5.000000, 0.000032,0.999927,0.000041, 734 chr21 19638406 19638407 rs767354732 0 + A A A/T genomic single unknown 0.000019 0.003059 missense,untranslated-3 exact 1 1 EVA_EXAC, 2 A,T, 106863.000000,1.000000, 0.999991,0.000009, 734 chr21 19638409 19638410 rs35624999 0 + G G -/G genomic deletion unknown 0 0 frameshift,untranslated-3 exact 1 1 ABI, 0 734 chr21 19638426 19638427 rs752739149 0 + T T C/T genomic single by-frequency 0.000043 0.004649 missense,untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 2.000000,92528.000000, 0.000022,0.999978, 734 chr21 19638448 19638449 rs552617694 0 + G G G/T genomic single unknown 0 0 missense,untranslated-3 exact 1 1 JMKIDD_LAB, 0 734 chr21 19638449 19638450 rs755599558 0 + G G G/T genomic single by-frequency 0.00005 0.005016 missense,untranslated-3 exact 1 1 EVA_EXAC, 2 G,T, 79478.000000,2.000000, 0.999975,0.000025, 734 chr21 19638450 19638451 rs777304958 0 + A A A/G genomic single by-frequency 0.000051 0.005031 missense,untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 79000.000000,2.000000, 0.999975,0.000025, 734 chr21 19638459 19638460 rs748135086 0 + A A A/G genomic single unknown 0 0 missense,untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638460 19638461 rs551649478 0 + T T C/T genomic single by-1000genomes 0.000027 0.003674 coding-synon,untranslated-3 exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,79068.000000, 0.000025,0.999975, 734 chr21 19638463 19638464 rs756923830 0 + A A A/T genomic single unknown 0.000028 0.00372 missense,untranslated-3 exact 1 1 EVA_EXAC, 2 A,T, 72263.000000,1.000000, 0.999986,0.000014, 734 chr21 19638473 19638474 rs780406921 0 + C C C/T genomic single by-frequency 0.000066 0.005723 untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 61058.000000,2.000000, 0.999967,0.000033, 734 chr21 19638477 19638478 rs747336905 0 + C C C/T genomic single unknown 0.000017 0.002915 untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 117673.000000,1.000000, 0.999991,0.000008, 734 chr21 19638480 19638481 rs769129087 0 + G G C/G genomic single unknown 0.000044 0.004697 untranslated-3 exact 1 1 EVA_EXAC, 2 C,G, 1.000000,45315.000000, 0.000022,0.999978, 734 chr21 19638492 19638493 rs776986742 0 + A A A/G genomic single unknown 0.000076 0.006148 untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 26449.000000,1.000000, 0.999962,0.000038, 734 chr21 19638499 19638500 rs748708969 0 + T T C/T genomic single unknown 0.00002 0.003151 untranslated-3 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,100725.000000, 0.000010,0.999990, 734 chr21 19638504 19638505 rs532386564 0 + A A A/G genomic single unknown 0 0 untranslated-3 exact 1 1 EVA-GONL, 0 734 chr21 19638512 19638513 rs149549144 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000104 0.007208 untranslated-3 exact 1 4 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 24246.000000,4.000000, 0.999835,0.000165, 734 chr21 19638606 19638607 rs369783779 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 1 TISHKOFF, 0 734 chr21 19638621 19638622 rs59463621 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 untranslated-3 exact 1 4 1000GENOMES,HGSV,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4965.000000,43.000000, 0.991414,0.008586, 734 chr21 19638628 19638629 rs772815185 0 + T T A/T genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638640 19638641 rs748886240 0 + C C C/T genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638644 19638645 rs546208276 0 + G G A/G genomic single by-cluster 0 0 untranslated-3 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638649 19638650 rs556085542 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19638660 19638661 rs377197060 0 + G G C/G genomic single by-cluster 0 0 untranslated-3 exact 1 2 JMKIDD_LAB,WARNICH_LAB, 0 734 chr21 19638663 19638664 rs754176717 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 1 EVA_DECODE, 0 734 chr21 19638670 19638671 rs28604577 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.228842 0.249103 untranslated-3 exact 1 17 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4348.000000,660.000000, 0.868211,0.131789, maf-5-some-pop 734 chr21 19638674 19638674 rs564588715 0 + - - -/TA genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 untranslated-3 between 1 1 1000GENOMES, 2 -,TA, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19638685 19638686 rs147213219 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19638695 19638696 rs186985017 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19638703 19638704 rs759828957 0 + C C C/G genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638709 19638714 rs371166195 0 + AATGT AATGT -/AATGT genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 untranslated-3 range 1 2 1000GENOMES,SSMP, 2 -,AATGT, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19638722 19638723 rs767901479 0 + T T G/T genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638725 19638726 rs775927673 0 + T T C/T genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638729 19638730 rs572257906 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19638744 19638745 rs376461939 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19638791 19638792 rs761295771 0 + C C C/G genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638792 19638793 rs558084611 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 untranslated-3 exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19638796 19638797 rs73893045 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 untranslated-3 exact 1 3 1000GENOMES,ILLUMINA,ILLUMINA-UK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19638817 19638818 rs543466518 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19638824 19638825 rs116326407 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 untranslated-3 exact 1 5 1000GENOMES,ILLUMINA,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4950.000000,58.000000, 0.988419,0.011582, maf-5-some-pop 734 chr21 19638827 19638828 rs79186537 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19638850 19638852 rs58063327 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.207864 0.246424 untranslated-3 range 1 MixedObserved 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,LUNTER,SSMP,TISHKOFF, 2 -,TT, 590.000000,4418.000000, 0.117812,0.882188, maf-5-some-pop 734 chr21 19638850 19638851 rs138451478 0 + T T A/T genomic single unknown 0 0 untranslated-3 exact 1 MixedObserved 1 BL, 0 734 chr21 19638851 19638852 rs199918731 0 - T T A/G genomic single by-cluster 0 0 untranslated-3 exact 1 1 ILLUMINA, 0 734 chr21 19638852 19638853 rs142752049 0 + A A A/T genomic single unknown 0 0 untranslated-3 exact 1 1 BL, 0 734 chr21 19638886 19638887 rs541110358 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19638893 19638894 rs11911116 0 + A A A/C genomic single by-hapmap 0 0 untranslated-3 exact 1 1 CSHL-HAPMAP, 0 734 chr21 19638916 19638917 rs559561811 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19638922 19638923 rs764052212 0 + A A A/G genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19638924 19638925 rs562603713 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 untranslated-3 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19638996 19638997 rs533346919 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19638997 19638998 rs551514427 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639014 19639014 rs35034392 0 + - - -/C genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 734 chr21 19639015 19639019 rs113225793 0 + CAAA CAAA -/CAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 untranslated-3 range 1 2 1000GENOMES,BUSHMAN, 2 -,CAAA, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19639017 19639021 rs371214888 0 + AACA AACA -/AACA genomic deletion unknown 0 0 untranslated-3 range 1 1 TISHKOFF, 0 734 chr21 19639108 19639109 rs567867879 0 + G G G/T genomic single unknown 0 0 untranslated-3 exact 1 1 EVA-GONL, 0 734 chr21 19639116 19639117 rs2051357 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.099159 0.199366 untranslated-3 exact 1 12 1000GENOMES,ABI,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 262.000000,4746.000000, 0.052316,0.947684, maf-5-some-pop 734 chr21 19639173 19639174 rs2051358 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.39214 0.20566 untranslated-3 exact 1 28 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3667.000000,1341.000000, 0.732228,0.267772, maf-5-some-pop,genotype-conflict 734 chr21 19639177 19639178 rs765501676 0 + A A A/G genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639189 19639190 rs570755802 0 + T T C/T genomic single by-cluster 0 0 untranslated-3 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639194 19639195 rs11909235 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.328616 0.237317 untranslated-3 exact 1 27 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1038.000000,3970.000000, 0.207268,0.792732, maf-5-some-pop 734 chr21 19639204 19639205 rs568029938 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19639208 19639209 rs535234622 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19639234 19639235 rs376236495 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 1 TISHKOFF, 0 734 chr21 19639262 19639263 rs1051520 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.39214 0.20566 untranslated-3 exact 1 25 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,LEE,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 1341.000000,3667.000000, 0.267772,0.732228, maf-5-some-pop 734 chr21 19639283 19639284 rs565731018 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639309 19639310 rs112498166 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 untranslated-3 exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19639321 19639321 rs750322208 0 + - - -/GTT genomic insertion unknown 0 0 untranslated-3 between 1 1 SSMP, 0 734 chr21 19639328 19639328 rs150368562 0 + - - -/AGTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 untranslated-3 between 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,AGTT, 4942.000000,66.000000, 0.986821,0.013179, 734 chr21 19639335 19639335 rs368627794 0 + - - -/TAGT genomic insertion unknown 0 0 untranslated-3 between 1 1 TISHKOFF, 0 734 chr21 19639340 19639341 rs372684532 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 1 SSMP, 0 734 chr21 19639359 19639360 rs768504161 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 1 EVA_DECODE, 0 734 chr21 19639385 19639386 rs535499176 0 + A A A/T genomic single unknown 0 0 untranslated-3 exact 1 1 EVA-GONL, 0 734 chr21 19639414 19639415 rs557949017 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639417 19639418 rs147385043 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 untranslated-3 exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19639439 19639440 rs73206975 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.05397 0.155153 untranslated-3 exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4869.000000,139.000000, 0.972244,0.027756, maf-5-some-pop 734 chr21 19639441 19639442 rs555511324 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19639462 19639462 rs531014493 0 + - - -/AA genomic insertion by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 untranslated-3 between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,SSMP, 2 -,AA, 4982.000000,26.000000, 0.994808,0.005192, 734 chr21 19639472 19639473 rs113300118 0 + C C C/T genomic single by-cluster 0.5 0 untranslated-3 exact 1 2 BUSHMAN,TISHKOFF, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19639479 19639480 rs575054972 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 untranslated-3 exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19639490 19639491 rs1051526 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.283684 0.24772 untranslated-3 exact 1 22 1000GENOMES,ABI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,LEE,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4151.000000,857.000000, 0.828874,0.171126, maf-5-some-pop 734 chr21 19639510 19639511 rs559424912 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19639511 19639512 rs77545925 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 untranslated-3 exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 734 chr21 19639514 19639515 rs142929086 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639538 19639538 rs149643209 0 + - - -/AGAT/AGATAGAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.26518 0.249539 untranslated-3 between 1 InconsistentAlleles 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,AGAT, 4220.000000,788.000000, 0.842652,0.157348, maf-5-some-pop,maf-5-all-pops 734 chr21 19639545 19639545 rs16741 0 - - - -/TCTA genomic insertion by-cluster,by-frequency 0.400714 0.199462 untranslated-3 between 1 NonIntegerChromCount 3 GMI,MARSHFIELD,TISHKOFF, 2 -,TCTA, 94.800003,247.199997, 0.277193,0.722807, maf-5-some-pop,maf-5-all-pops 734 chr21 19639576 19639577 rs1051530 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.256897 0.249905 untranslated-3 exact 1 22 1000GENOMES,AFFY,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,LEE,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4250.000000,758.000000, 0.848642,0.151358, maf-5-some-pop,genotype-conflict 734 chr21 19639585 19639586 rs530982067 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19639599 19639599 rs371799475 0 + - - -/TTC genomic insertion unknown 0 0 untranslated-3 between 1 1 LUNTER, 0 734 chr21 19639638 19639639 rs549566745 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639639 19639640 rs748772996 0 + G G G/T genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639642 19639643 rs151101676 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19639647 19639648 rs528997799 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639664 19639664 rs745889536 0 + - - -/AA genomic insertion by-cluster 0 0 untranslated-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639667 19639667 rs768510484 0 + - - -/GAG genomic insertion by-cluster 0 0 untranslated-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639683 19639684 rs547557573 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19639722 19639722 rs747911120 0 + - - -/AAC genomic insertion by-cluster 0 0 near-gene-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639735 19639736 rs139855975 0 + A A A/G genomic single by-1000genomes 0 0 near-gene-3 exact 1 1 1000GENOMES, 0 734 chr21 19639749 19639750 rs565665384 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639752 19639753 rs539469343 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19639781 19639781 rs139431387 0 + - - -/AAG genomic insertion by-cluster,by-frequency,by-1000genomes 0.215446 0.2476 near-gene-3 between 1 10 1000GENOMES,BL,EVA_DECODE,EVA_GENOME_DK,GMI,LUNTER,PADH-LAB_SPU,SSIP,SSMP,TISHKOFF, 2 -,AAG, 4393.000000,615.000000, 0.877196,0.122804, maf-5-some-pop 734 chr21 19639782 19639782 rs66602473 0 + - - -/AAG genomic insertion unknown 0 0 near-gene-3 between 1 1 PJP, 0 734 chr21 19639783 19639784 rs73206978 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 near-gene-3 exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 109.000000,4899.000000, 0.021765,0.978235, maf-5-some-pop 734 chr21 19639802 19639803 rs377002198 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 1 TISHKOFF, 0 734 chr21 19639818 19639819 rs3920685 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392325 0.205532 near-gene-3 exact 1 23 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1342.000000,3666.000000, 0.267971,0.732029, maf-5-some-pop 734 chr21 19639832 19639832 rs140104946 0 + - - -/TTCTT genomic insertion by-cluster,by-1000genomes 0 0 near-gene-3 between 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 734 chr21 19639840 19639841 rs745542352 0 + A A A/G genomic single unknown 0 0 near-gene-3 exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639840 19639840 rs762563333 0 + - - -/AGTT genomic insertion by-cluster 0 0 near-gene-3 between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639874 19639875 rs376238471 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 1 SSMP, 0 734 chr21 19639900 19639901 rs536806230 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19639903 19639904 rs561862710 0 + A A A/C genomic single by-cluster 0 0 near-gene-3 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639914 19639915 rs775964776 0 + A A A/C genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639919 19639920 rs773747917 0 + G G G/T genomic single unknown 0 0 near-gene-3 exact 1 1 EVA_DECODE, 0 734 chr21 19639928 19639928 rs765923599 0 + - - -/ATT genomic insertion by-cluster 0 0 near-gene-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19639930 19639931 rs78894813 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 near-gene-3 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 47.000000,4961.000000, 0.009385,0.990615, 734 chr21 19639948 19639949 rs3827160 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.322483 0.239262 near-gene-3 exact 1 20 1000GENOMES,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,T, 1012.000000,3996.000000, 0.202077,0.797923, maf-5-some-pop 734 chr21 19639951 19639952 rs186735104 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19640008 19640009 rs553084237 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19640013 19640014 rs115087605 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 near-gene-3 exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, maf-5-some-pop 734 chr21 19640019 19640020 rs545020852 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640026 19640027 rs11909449 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 near-gene-3 exact 1 8 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 734 chr21 19640028 19640029 rs575900062 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19640028 19640028 rs764539535 0 + - - -/ATCT genomic insertion unknown 0 0 near-gene-3 between 1 MixedObserved 1 EVA_DECODE, 0 734 chr21 19640032 19640033 rs189970545 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19640032 19640032 rs145075192 0 + - - -/ATC/ATCA genomic insertion by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 near-gene-3 between 1 MixedObserved,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,ATCA, 4975.000000,33.000000, 0.993411,0.006589, 734 chr21 19640072 19640073 rs73318291 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 near-gene-3 exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 734 chr21 19640076 19640077 rs550778421 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 1 EVA-GONL, 0 734 chr21 19640077 19640078 rs113545779 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 near-gene-3 exact 1 3 1000GENOMES,BUSHMAN,TISHKOFF, 2 C,G, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19640090 19640093 rs138863115 0 + ACT ACT -/ACT genomic deletion by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 near-gene-3 range 1 2 1000GENOMES,LUNTER, 2 -,ACT, 26.000000,4982.000000, 0.005192,0.994808, 734 chr21 19640092 19640093 rs761888942 0 + T T G/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640094 19640097 rs376043599 0 + CTA CTA -/CTA genomic deletion unknown 0 0 near-gene-3 range 1 1 TISHKOFF, 0 734 chr21 19640096 19640096 rs138943189 0 + - - -/ATC/ATCA genomic insertion by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 near-gene-3 between 1 InconsistentAlleles 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATC, 4919.000000,89.000000, 0.982228,0.017772, 734 chr21 19640104 19640105 rs9984371 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.391211 0.2063 near-gene-3 exact 1 22 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3672.000000,1336.000000, 0.733227,0.266773, maf-5-some-pop 734 chr21 19640110 19640111 rs559513789 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19640123 19640124 rs532922523 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640128 19640129 rs750646974 0 + T T C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640146 19640147 rs143932558 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 near-gene-3 exact 1 2 1000GENOMES,SSMP, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19640156 19640157 rs758730714 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640161 19640162 rs11909352 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.075211 0.178743 near-gene-3 exact 1 10 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4812.000000,196.000000, 0.960863,0.039137, maf-5-some-pop 734 chr21 19640166 19640167 rs537349004 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640171 19640172 rs188647045 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640173 19640174 rs140532887 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 near-gene-3 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 734 chr21 19640175 19640175 rs570201809 0 + - - -/AA genomic insertion by-frequency,by-1000genomes 0.001995 0.031519 near-gene-3 between 1 1 1000GENOMES, 2 -,AA, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19640193 19640194 rs534534291 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19640197 19640200 rs145770708 0 + CAA CAA -/CAA genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 MixedObserved 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 0 734 chr21 19640197 19640202 rs386816744 0 + CAAAT CAAAT AA/CAAAT genomic in-del by-cluster 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 734 chr21 19640197 19640198 rs536133728 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 MixedObserved 2 1000GENOMES,EVA_GENOME_DK, 2 -,C, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19640197 19640198 rs755872439 0 + C C A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640197 19640198 rs869281154 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 734 chr21 19640199 19640202 rs201034558 0 + AAT AAT -/AAT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640200 19640202 rs67193080 0 + AT AT -/AT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 MixedObserved 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640200 19640203 rs780120615 0 + ATA ATA -/ATA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_DECODE, 0 734 chr21 19640201 19640202 rs199650275 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 2 GMI,ILLUMINA, 0 734 chr21 19640206 19640207 rs867848072 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19640223 19640224 rs117273566 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4967.000000,41.000000, 0.991813,0.008187, 734 chr21 19640234 19640235 rs577729249 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19640235 19640236 rs538605482 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640240 19640241 rs557324965 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19640250 19640251 rs193265034 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19640271 19640271 rs373884182 0 + - - -/TCA genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 734 chr21 19640280 19640281 rs543293376 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640303 19640303 rs556131133 0 + - - -/AAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AAT, 4981.000000,27.000000, 0.994609,0.005391, 734 chr21 19640306 19640306 rs143773673 0 + - - -/AAT genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 3 1000GENOMES,LUNTER,TISHKOFF, 0 734 chr21 19640307 19640308 rs554993929 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640312 19640313 rs145613992 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640339 19640339 rs148133578 0 + - - -/CTAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.072631 0.176182 unknown between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,CTAT, 4819.000000,189.000000, 0.962260,0.037740, maf-5-some-pop 734 chr21 19640341 19640341 rs749033265 0 + - - -/ATC genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640342 19640343 rs9975674 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.390838 0.206555 unknown exact 1 MixedObserved 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3674.000000,1334.000000, 0.733626,0.266374, maf-5-some-pop,maf-5-all-pops 734 chr21 19640342 19640343 rs375991142 0 + G G G/TCTAT genomic in-del unknown 0 0 unknown rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 TISHKOFF, 0 734 chr21 19640345 19640345 rs535041812 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.004781 0.048658 unknown between 1 1 1000GENOMES, 2 -,A, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19640349 19640349 rs557921305 0 + - - -/AA/CTTAAC genomic insertion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown between 1 InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,CTTAAC, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19640379 19640379 rs759025437 0 + - - -/GG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640385 19640385 rs201557979 0 + - - -/T genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 734 chr21 19640387 19640387 rs112289304 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.3512 0.228601 unknown between 1 12 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 3870.000000,1138.000000, 0.772764,0.227236, maf-5-some-pop,maf-5-all-pops 734 chr21 19640392 19640392 rs386365784 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 1 GMI, 0 734 chr21 19640400 19640401 rs756707853 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640410 19640411 rs559450563 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640418 19640418 rs147315642 0 + - - -/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 unknown between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,TTT, 4812.000000,196.000000, 0.960863,0.039137, maf-5-some-pop 734 chr21 19640429 19640429 rs562678020 0 + - - -/TAT genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,TAT, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19640458 19640459 rs778444224 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640461 19640461 rs576189547 0 + - - -/AAT genomic insertion by-frequency,by-1000genomes 0.001995 0.031519 unknown between 1 1 1000GENOMES, 2 -,AAT, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19640468 19640469 rs569004021 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640475 19640476 rs9979147 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.390464 0.206809 unknown exact 1 18 1000GENOMES,AFFY,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1332.000000,3676.000000, 0.265974,0.734026, maf-5-some-pop 734 chr21 19640485 19640487 rs3991146 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.390651 0.206682 unknown range 1 10 1000GENOMES,BL,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,AA, 1333.000000,3675.000000, 0.266174,0.733826, maf-5-some-pop,maf-5-all-pops 734 chr21 19640508 19640509 rs780271401 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640512 19640516 rs367765538 0 + GTCT GTCT -/GTCT genomic deletion unknown 0 0 unknown range 1 1 LUNTER, 0 734 chr21 19640516 19640517 rs544822667 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640516 19640516 rs561667512 0 + - - -/ATC genomic insertion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 MixedObserved 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATC, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19640517 19640518 rs563285817 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19640524 19640524 rs138883951 0 + - - -/CAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.388775 0.207946 unknown between 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 2 -,CAA, 3685.000000,1323.000000, 0.735823,0.264177, maf-5-some-pop,maf-5-all-pops 734 chr21 19640528 19640528 rs3077964 0 + - - -/AAC genomic insertion unknown 0 0 unknown between 1 2 ABI,TSC-CSHL, 0 734 chr21 19640530 19640530 rs780153435 0 + - - -/TTGT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640544 19640545 rs530456786 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640557 19640558 rs2051359 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.391024 0.206427 unknown exact 1 24 1000GENOMES,ABI,AFFY,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3673.000000,1335.000000, 0.733427,0.266573, maf-5-some-pop 734 chr21 19640578 19640579 rs540076324 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 734 chr21 19640588 19640589 rs567242772 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640589 19640590 rs528235378 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19640633 19640634 rs188837697 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640637 19640638 rs553410228 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640660 19640661 rs777159620 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640685 19640686 rs748892777 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 734 chr21 19640692 19640693 rs770730965 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 734 chr21 19640722 19640722 rs773871074 0 + - - -/AA genomic insertion by-cluster 0 0 unknown between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640739 19640742 rs67027174 0 + GAA GAA -/GAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.39527 0.203462 unknown range 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,GAA, 1358.000000,3650.000000, 0.271166,0.728834, maf-5-some-pop,maf-5-all-pops 734 chr21 19640741 19640744 rs3077965 0 + AGA AGA -/AGA genomic deletion unknown 0 0 unknown range 1 1 TSC-CSHL, 0 734 chr21 19640743 19640746 rs35329978 0 + AAG AAG -/AAG genomic deletion by-cluster 0 0 unknown range 1 2 ABI,TISHKOFF, 0 734 chr21 19640750 19640751 rs749095195 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640758 19640759 rs762454116 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640762 19640763 rs571357765 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19640789 19640790 rs868533550 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19640805 19640806 rs538806009 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 734 chr21 19640820 19640821 rs539116296 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19640832 19640833 rs541855190 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 734 chr21 19640838 19640839 rs114342643 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 734 chr21 19640847 19640848 rs191632597 0 + T T G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 734 chr21 19640888 19640889 rs769959541 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640908 19640909 rs773489796 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640927 19640928 rs145251954 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19640928 19640929 rs868188117 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19640945 19640946 rs536273997 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640950 19640951 rs766563376 0 + T T C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19640958 19640959 rs762158379 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 1 EVA_DECODE, 0 734 chr21 19640967 19640968 rs765516397 0 + A A A/G genomic single unknown 0 0 near-gene-3 exact 1 1 EVA_DECODE, 0 734 chr21 19640990 19640991 rs555269254 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19640999 19641000 rs184106679 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19641000 19641001 rs8127878 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.062977 0.165899 near-gene-3 exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 734 chr21 19641003 19641003 rs199587945 0 + - - -/CAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 near-gene-3 between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,CAT, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 734 chr21 19641019 19641020 rs188065334 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19641032 19641032 rs375381680 0 + - - -/AAC/AACAACA/AACAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.003988 0.044506 near-gene-3 between 1 InconsistentAlleles 2 1000GENOMES,LUNTER, 3 -,AACAACA,AACAT, 4998.000000,6.000000,4.000000, 0.998003,0.001198,0.000799, rs-cluster-nonoverlapping-alleles 734 chr21 19641036 19641036 rs750796311 0 + - - -/T genomic insertion by-cluster 0 0 near-gene-3 between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641042 19641042 rs373224420 0 + - - -/T genomic insertion unknown 0 0 near-gene-3 between 1 1 TISHKOFF, 0 734 chr21 19641061 19641062 rs577553158 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 near-gene-3 exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19641064 19641064 rs775083507 0 + - - -/AG genomic insertion by-cluster 0 0 near-gene-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641067 19641068 rs545070606 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641096 19641097 rs763817380 0 + A A A/C genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641105 19641106 rs368008084 0 + T T C/T genomic single unknown 0 0 near-gene-3 exact 1 1 SSMP, 0 734 chr21 19641113 19641113 rs763125449 0 + - - -/C genomic insertion unknown 0 0 near-gene-3 between 1 1 EVA_DECODE, 0 734 chr21 19641117 19641118 rs563265973 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19641129 19641130 rs11088672 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.287346 0.247195 near-gene-3 exact 1 19 1000GENOMES,AFFY,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4137.000000,871.000000, 0.826078,0.173922, maf-5-some-pop 734 chr21 19641132 19641133 rs757226570 0 + T T G/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641194 19641194 rs760058629 0 + - - -/CTTT genomic insertion by-cluster 0 0 near-gene-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641198 19641199 rs1569835 0 - A A G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.286042 0.247388 near-gene-3 exact 1 20 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 866.000000,4142.000000, 0.172923,0.827077, maf-5-some-pop 734 chr21 19641223 19641224 rs560806957 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641227 19641228 rs749995646 0 + C C C/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641239 19641240 rs528369610 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641254 19641258 rs796265721 0 + CTCT CTCT -/CTCT genomic deletion unknown 0 0 near-gene-3 range 1 1 HAMMER_LAB, 0 734 chr21 19641262 19641263 rs34733991 0 + C C -/C genomic deletion by-1000genomes 0 0 near-gene-3 exact 1 MixedObserved 1 1000GENOMES, 0 734 chr21 19641262 19641266 rs141246911 0 + CTCT CTCT -/CTCT genomic deletion by-cluster,by-1000genomes 0 0 near-gene-3 range 1 MixedObserved 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,LUNTER,TISHKOFF, 0 734 chr21 19641262 19641276 rs769810121 0 + CTCTTCTATTAAAT CTCTTCTATTAAAT CTCTTCTATTAAAT/TCTATTA genomic in-del unknown 0 0 near-gene-3 rangeDeletion 1 FlankMismatchGenomeShorter 1 EVA_GENOME_DK, 0 734 chr21 19641263 19641263 rs199536754 0 + - - -/TCT genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 near-gene-3 between 1 2 1000GENOMES,GMI, 2 -,TCT, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19641273 19641276 rs35990274 0 + AAT AAT -/AAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.286303 0.24735 near-gene-3 range 1 10 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,AAT, 867.000000,4141.000000, 0.173123,0.826877, maf-5-some-pop,maf-5-all-pops 734 chr21 19641289 19641290 rs867028084 0 + A A A/G genomic single unknown 0 0 near-gene-3 exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19641309 19641310 rs180740176 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641309 19641313 rs762329200 0 + GTAT GTAT -/GTAT genomic deletion by-cluster 0 0 near-gene-3 range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641319 19641320 rs571096560 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641323 19641324 rs564261012 0 + T T G/T genomic single unknown 0 0 near-gene-3 exact 1 1 EVA-GONL, 0 734 chr21 19641333 19641334 rs532236648 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641342 19641343 rs4493348 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.269267 0.249256 near-gene-3 exact 1 18 1000GENOMES,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 803.000000,4205.000000, 0.160343,0.839657, maf-5-some-pop,maf-5-all-pops 734 chr21 19641353 19641354 rs4312576 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.39009 0.207062 near-gene-3 exact 1 23 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1330.000000,3678.000000, 0.265575,0.734425, maf-5-some-pop 734 chr21 19641357 19641357 rs560474193 0 + - - -/CAT/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 near-gene-3 between 1 InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 -,G, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19641368 19641369 rs536608386 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641370 19641371 rs769020752 0 + T T G/T genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641390 19641390 rs528876224 0 + - - -/AGTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 near-gene-3 between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AGTC, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19641396 19641396 rs75499279 0 + - - -/TCAG genomic insertion unknown 0 0 near-gene-3 between 1 1 BCMHGSC_JDW, 0 734 chr21 19641397 19641397 rs534979013 0 + - - -/ACTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 near-gene-3 between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ACTT, 4982.000000,26.000000, 0.994808,0.005192, 734 chr21 19641430 19641431 rs781445953 0 + A A A/C genomic single unknown 0 0 near-gene-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641436 19641437 rs549048190 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 untranslated-3 exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19641461 19641462 rs12626834 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.268995 0.249277 untranslated-3 exact 1 18 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 802.000000,4206.000000, 0.160144,0.839856, maf-5-some-pop,maf-5-all-pops 734 chr21 19641476 19641477 rs57504268 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.062977 0.165899 untranslated-3 exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 734 chr21 19641481 19641482 rs183665001 0 + A A A/C genomic single by-frequency,by-1000genomes 0.008351 0.064078 untranslated-3 exact 1 1 1000GENOMES, 2 A,C, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19641497 19641498 rs558766481 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 1 SSIP, 0 734 chr21 19641517 19641518 rs773866309 0 + T T G/T genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641526 19641528 rs751691441 0 + AC AC -/AC genomic deletion by-cluster 0 0 untranslated-3 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641533 19641534 rs577346019 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641536 19641537 rs538076747 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19641537 19641538 rs763058386 0 + C C A/C genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641579 19641579 rs754954612 0 + - - -/TGAT genomic insertion by-cluster 0 0 untranslated-3 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641589 19641590 rs2824712 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.286042 0.247388 untranslated-3 exact 1 21 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4142.000000,866.000000, 0.827077,0.172923, maf-5-some-pop 734 chr21 19641623 19641624 rs190221719 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 untranslated-3 exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19641640 19641641 rs774582716 0 + A A A/G genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641652 19641653 rs149176026 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 untranslated-3 exact 1 2 1000GENOMES,SSMP, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19641662 19641662 rs34073617 0 + - - -/A genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 734 chr21 19641664 19641664 rs551189905 0 + - - -/TATC genomic insertion by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 untranslated-3 between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TATC, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19641665 19641666 rs570993625 0 + A A A/G genomic single unknown 0 0 untranslated-3 exact 1 1 EVA-GONL, 0 734 chr21 19641697 19641698 rs9979816 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.21875 0.248039 untranslated-3 exact 1 17 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4382.000000,626.000000, 0.875000,0.125000, maf-5-some-pop 734 chr21 19641698 19641699 rs57140800 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049812 0.149749 untranslated-3 exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 128.000000,4880.000000, 0.025559,0.974441, maf-5-some-pop 734 chr21 19641745 19641746 rs757081505 0 + G G -/G genomic deletion by-cluster 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19641749 19641750 rs540117713 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 untranslated-3 exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19641751 19641752 rs116164005 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 untranslated-3 exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4898.000000,110.000000, 0.978035,0.021965, maf-5-some-pop 734 chr21 19641760 19641761 rs182594422 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 untranslated-3 exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 734 chr21 19641775 19641776 rs573228914 0 + A A A/G genomic single unknown 0 0 untranslated-3 exact 1 1 EVA-GONL, 0 734 chr21 19641874 19641875 rs550512582 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 untranslated-3 exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19641886 19641887 rs113114090 0 + G G A/G genomic single unknown 0 0 untranslated-3 exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 734 chr21 19641895 19641896 rs535453737 0 + T T C/T genomic single unknown 0 0 untranslated-3 exact 1 1 EVA-GONL, 0 734 chr21 19641906 19641906 rs555380903 0 + - - -/ATT genomic insertion by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 untranslated-3 between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATT, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19641948 19641949 rs143288769 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 untranslated-3 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19641990 19641991 rs111560703 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 2 1000GENOMES,BUSHMAN, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19641998 19641999 rs112447565 0 + T T A/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 untranslated-3 exact 1 2 1000GENOMES,BUSHMAN, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19642021 19642022 rs927 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.271702 0.249056 untranslated-3 exact 1 21 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WIAF,WUGSC_SSAHASNP, 2 A,T, 812.000000,4196.000000, 0.162141,0.837859, maf-5-some-pop,maf-5-all-pops 734 chr21 19642022 19642023 rs1005 0 - A A A/T cDNA single unknown 0 0 untranslated-3 exact 1 1 WIAF, 2 A,T, 184.000000,0.000000, 1.000000,0.000000, 734 chr21 19642092 19642093 rs534211640 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19642102 19642103 rs116659218 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 untranslated-3 exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 734 chr21 19642104 19642105 rs750368219 0 + A A A/C genomic single unknown 0 0 untranslated-3 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19642118 19642119 rs571071295 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19642135 19642136 rs73206996 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 untranslated-3 exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 734 chr21 19642184 19642185 rs556480183 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 untranslated-3 exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19642208 19642209 rs113457073 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 untranslated-3 exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19642235 19642236 rs773450967 0 + G G C/G genomic single unknown 0.000018 0.002999 untranslated-3 exact 1 1 EVA_EXAC, 2 C,G, 1.000000,111165.000000, 0.000009,0.999991, 734 chr21 19642253 19642254 rs370060926 0 + A A A/G genomic single by-cluster 0.000018 0.002979 untranslated-3 exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 112671.000000,1.000000, 0.999991,0.000009, 734 chr21 19642256 19642257 rs374533328 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000602 0.017346 untranslated-3 exact 1 4 1000GENOMES,EVA_EXAC,EVA_MGP,NHLBI-ESP, 2 C,T, 117804.000000,38.000000, 0.999678,0.000322, 734 chr21 19642257 19642258 rs774703212 0 + G G A/G genomic single unknown 0.000018 0.002971 untranslated-3 exact 1 1 EVA_EXAC, 2 A,G, 1.000000,113283.000000, 0.000009,0.999991, 734 chr21 19642258 19642259 rs759238698 0 + A A A/C genomic single by-frequency 0.000053 0.005139 untranslated-3 exact 1 1 EVA_EXAC, 2 A,C, 113593.000000,3.000000, 0.999974,0.000026, 734 chr21 19642267 19642267 rs745480997 0 + - - -/TT genomic insertion unknown 0.000017 0.002942 untranslated-3 between 1 1 EVA_EXAC, 2 -,TT, 115567.000000,1.000000, 0.999991,0.000009, 734 chr21 19642277 19642278 rs554275904 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 untranslated-3 exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19642278 19642279 rs770308022 0 + A A -/A genomic deletion unknown 0.000169 0.009192 untranslated-3 exact 1 1 EVA_EXAC, 2 -,A, 10.000000,118305.000000, 0.000085,0.999915, 734 chr21 19642281 19642281 rs36047222 0 + - - -/A genomic insertion unknown 0 0 untranslated-3 between 1 1 ABI, 0 734 chr21 19642283 19642284 rs752544742 0 + C C A/C/T genomic single by-frequency 0.000034 0.004095 untranslated-3 exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,119256.000000,1.000000, 0.000008,0.999983,0.000008, 734 chr21 19642284 19642285 rs7276699 0 + G G A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.284747 0.247767 untranslated-3 exact 1 SingleClassTriAllelic 31 1000GENOMES,ABI,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 A,G,T, 29.000000,103659.000000,21418.000000, 0.000232,0.828569,0.171199, maf-5-some-pop 734 chr21 19642311 19642312 rs146494364 0 + C C C/T genomic single by-cluster 0.000066 0.005744 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121208.000000,4.000000, 0.999967,0.000033, 734 chr21 19642312 19642313 rs778424024 0 + G G G/T genomic single by-frequency 0.000049 0.004974 coding-synon exact 1 1 EVA_EXAC, 2 G,T, 121221.000000,3.000000, 0.999975,0.000025, 734 chr21 19642318 19642319 rs745588275 0 + C C C/T genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121291.000000,1.000000, 0.999992,0.000008, 734 chr21 19642320 19642321 rs141033562 0 + T T C/T genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 C,T, 1.000000,13005.000000, 0.000077,0.999923, 734 chr21 19642326 19642327 rs755271540 0 + C C A/C genomic single by-frequency 0.000049 0.004972 missense exact 1 1 EVA_EXAC, 2 A,C, 3.000000,121315.000000, 0.000025,0.999975, 734 chr21 19642329 19642330 rs781646198 0 + T T C/T genomic single by-frequency 0.000033 0.00406 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121336.000000, 0.000016,0.999983, 734 chr21 19642336 19642337 rs748621195 0 + C C C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121359.000000,1.000000, 0.999992,0.000008, 734 chr21 19642339 19642340 rs565147994 0 + T T G/T genomic single by-1000genomes 0.000033 0.004059 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 3.000000,126381.000000, 0.000024,0.999976, 734 chr21 19642341 19642342 rs144640412 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000247 0.011114 missense exact 1 SingleClassTriAllelic 7 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 3 A,C,T, 1.000000,126366.000000,15.000000, 0.000008,0.999873,0.000119, 734 chr21 19642342 19642343 rs544542006 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000115 0.007593 coding-synon exact 1 3 1000GENOMES,EVA_DECODE,EVA_EXAC, 2 A,G, 8.000000,126376.000000, 0.000063,0.999937, 734 chr21 19642343 19642344 rs774414500 0 + G G A/G genomic single by-frequency 0.000049 0.004971 missense exact 1 1 EVA_EXAC, 2 A,G, 3.000000,121379.000000, 0.000025,0.999975, 734 chr21 19642346 19642347 rs192022515 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000412 0.014344 missense exact 1 7 1000GENOMES,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA, 2 C,T, 126360.000000,28.000000, 0.999778,0.000222, 734 chr21 19642347 19642348 rs146695857 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000231 0.010737 missense exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 3 A,G,T, 4.000000,121372.000000,10.000000, 0.000033,0.999885,0.000082, 734 chr21 19642349 19642350 rs760547201 0 + T T G/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121389.000000, 0.000008,0.999992, 734 chr21 19642362 19642363 rs764022187 0 + A A A/C genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 A,C, 121396.000000,2.000000, 0.999984,0.000016, 734 chr21 19642368 19642369 rs753835508 0 + A A A/C genomic single by-frequency 0.000049 0.004971 missense exact 1 1 EVA_EXAC, 2 A,C, 121397.000000,3.000000, 0.999975,0.000025, 734 chr21 19642379 19642380 rs761295407 0 + G G G/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 G,T, 121401.000000,1.000000, 0.999992,0.000008, 734 chr21 19642383 19642384 rs764848195 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121399.000000,1.000000, 0.999992,0.000008, 734 chr21 19642392 19642393 rs750010344 0 + G G C/G genomic single by-frequency 0.000049 0.004971 missense exact 1 1 EVA_EXAC, 2 C,G, 3.000000,121395.000000, 0.000025,0.999975, 734 chr21 19642400 19642401 rs758094616 0 + C C C/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,G, 121400.000000,1.000000, 0.999992,0.000008, 734 chr21 19642401 19642401 rs775976200 0 + - - -/TGT genomic insertion unknown 0.000016 0.00287 cds-indel between 1 1 EVA_EXAC, 2 -,TGT, 121400.000000,1.000000, 0.999992,0.000008, 734 chr21 19642406 19642407 rs781357972 0 + T T C/T genomic single by-frequency 0.000033 0.004059 missense exact 1 MixedObserved 1 EVA_EXAC, 2 C,T, 2.000000,121398.000000, 0.000016,0.999984, 734 chr21 19642406 19642406 rs771341147 0 + - - -/T genomic insertion unknown 0 0 frameshift between 1 MixedObserved 1 SSMP, 0 734 chr21 19642416 19642417 rs143612300 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000033 0.004059 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 126407.000000,3.000000, 0.999976,0.000024, 734 chr21 19642417 19642418 rs756614369 0 + C C C/G genomic single by-frequency 0.000115 0.007592 missense exact 1 1 EVA_EXAC, 2 C,G, 121393.000000,7.000000, 0.999942,0.000058, 734 chr21 19642418 19642419 rs778411173 0 + A A A/C genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,C, 121399.000000,1.000000, 0.999992,0.000008, 734 chr21 19642433 19642434 rs749861824 0 + G G G/T genomic single unknown 0.000016 0.00287 nonsense exact 1 1 EVA_EXAC, 2 G,T, 121395.000000,1.000000, 0.999992,0.000008, 734 chr21 19642438 19642439 rs548679171 0 + C C C/T genomic single by-1000genomes 0.000016 0.00287 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126398.000000,2.000000, 0.999984,0.000016, 734 chr21 19642440 19642441 rs146198697 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000576 0.016968 missense exact 1 5 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,T, 126358.000000,40.000000, 0.999684,0.000316, 734 chr21 19642443 19642444 rs746026760 0 + A A A/G genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 A,G, 121381.000000,1.000000, 0.999992,0.000008, 734 chr21 19642463 19642464 rs867040365 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19642466 19642467 rs772351703 0 + T T C/T genomic single by-frequency 0.000033 0.004059 intron exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121364.000000, 0.000016,0.999984, 734 chr21 19642471 19642472 rs181193059 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19642472 19642472 rs763597423 0 + - - -/AT genomic insertion unknown 0.000016 0.00287 intron between 1 1 EVA_EXAC, 2 -,AT, 121359.000000,1.000000, 0.999992,0.000008, 734 chr21 19642483 19642484 rs775199153 0 + A A A/G genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 A,G, 121317.000000,1.000000, 0.999992,0.000008, 734 chr21 19642489 19642490 rs368634591 0 + C C C/T genomic single by-cluster,by-frequency 0.000413 0.014362 intron exact 1 3 EVA_EXAC,EVA_MGP,NHLBI-ESP, 2 C,T, 121045.000000,25.000000, 0.999794,0.000206, 734 chr21 19642490 19642491 rs768494272 0 + G G A/G genomic single by-frequency 0.000066 0.005749 intron exact 1 1 EVA_EXAC, 2 A,G, 4.000000,121008.000000, 0.000033,0.999967, 734 chr21 19642511 19642511 rs199968410 0 + - - -/ATC genomic insertion by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 intron between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,ATC, 4807.000000,201.000000, 0.959864,0.040136, maf-5-some-pop 734 chr21 19642515 19642515 rs113308814 0 + - - -/TCA genomic insertion unknown 0.5 0 intron between 1 1 BUSHMAN, 2 -,TCA, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19642518 19642519 rs552611733 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19642528 19642529 rs540085450 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19642533 19642537 rs139507789 0 + AATT AATT -/AATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AATT, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 734 chr21 19642541 19642546 rs571048994 0 + AAAAA AAAAA -/AAAAA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSIP, 0 734 chr21 19642541 19642542 rs571077499 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19642550 19642551 rs74740848 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4875.000000,133.000000, 0.973442,0.026557, maf-5-some-pop 734 chr21 19642568 19642568 rs575802803 0 + - - -/CTGTATATATTCTCA genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,CTGTATATATTCTCA, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19642571 19642572 rs185605365 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19642581 19642582 rs756320357 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 DDI, 0 734 chr21 19642587 19642588 rs568542425 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19642633 19642634 rs73206999 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.135825 0.222405 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4641.000000,367.000000, 0.926717,0.073283, maf-5-some-pop 734 chr21 19642690 19642691 rs7282779 0 + T T A/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.035297 0.128072 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 734 chr21 19642696 19642700 rs570289718 0 + TTAA TTAA -/TTAA genomic deletion by-frequency,by-1000genomes 0.004383 0.04661 intron range 1 1 1000GENOMES, 2 -,TTAA, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19642717 19642718 rs566241045 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19642729 19642730 rs867398358 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19642730 19642731 rs562418961 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19642761 19642762 rs74810701 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19642786 19642787 rs73320105 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.104504 0.2033 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4731.000000,277.000000, 0.944688,0.055312, maf-5-some-pop 734 chr21 19642814 19642815 rs73320107 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.104504 0.2033 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4731.000000,277.000000, 0.944688,0.055312, maf-5-some-pop 734 chr21 19642816 19642817 rs190313310 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19642818 19642819 rs182130802 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4969.000000,39.000000, 0.992212,0.007788, 734 chr21 19642882 19642883 rs774507231 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19642946 19642947 rs556449618 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19642953 19642954 rs187869453 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19642978 19642978 rs549737191 0 + - - -/GTCT genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,GTCT, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19642986 19642987 rs191948674 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19642990 19642991 rs184197118 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19642998 19642999 rs560528621 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19643006 19643007 rs767440590 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19643060 19643060 rs534709682 0 + - - -/TAT genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,TAT, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19643080 19643085 rs537179958 0 + AGTAA AGTAA -/AGTAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AGTAA, 18.000000,4990.000000, 0.003594,0.996406, 734 chr21 19643112 19643113 rs527788725 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643147 19643148 rs115247141 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4940.000000,68.000000, 0.986422,0.013578, 734 chr21 19643181 19643182 rs138903221 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19643258 19643259 rs756080521 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19643275 19643276 rs188303806 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19643294 19643295 rs531762792 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19643318 19643319 rs764166394 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19643326 19643327 rs550181974 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643359 19643360 rs568752849 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643380 19643381 rs372328377 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19643405 19643406 rs529408736 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643406 19643407 rs34897835 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19643441 19643442 rs113240278 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19643449 19643450 rs113410714 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 734 chr21 19643464 19643465 rs142700880 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 734 chr21 19643473 19643474 rs773090285 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19643485 19643486 rs533632791 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643490 19643491 rs558653873 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643495 19643496 rs150708774 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19643500 19643501 rs546837235 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19643504 19643505 rs537870167 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19643524 19643525 rs116257356 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06856 0.171987 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4830.000000,178.000000, 0.964457,0.035543, maf-5-some-pop 734 chr21 19643529 19643530 rs192212360 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643545 19643546 rs541997193 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643586 19643587 rs554003926 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19643650 19643651 rs572402147 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 734 chr21 19643660 19643661 rs116936794 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,MPI_MOLGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4953.000000,55.000000, 0.989018,0.010982, 734 chr21 19643663 19643664 rs545963886 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643674 19643674 rs762382183 0 + - - -/TATC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19643699 19643699 rs770334382 0 + - - -/TAA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19643700 19643701 rs28427028 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19643722 19643723 rs564629693 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643726 19643726 rs763187712 0 + - - -/AA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19643730 19643731 rs374911720 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19643779 19643780 rs531575524 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19643795 19643796 rs535710202 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19643797 19643798 rs767223153 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19643798 19643799 rs562000267 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643817 19643818 rs529541217 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643833 19643834 rs184411833 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19643855 19643856 rs565919687 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19643867 19643867 rs772866812 0 + - - -/CAT genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 734 chr21 19643871 19643872 rs115386506 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19643897 19643898 rs752421687 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19643921 19643921 rs60747056 0 + - - -/CTTTT genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 734 chr21 19643940 19643941 rs116707602 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 5 1000GENOMES,EVA-GONL,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 734 chr21 19643943 19643944 rs756508080 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19643970 19643970 rs751716433 0 + - - -/GTTT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19644070 19644071 rs373055134 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19644088 19644089 rs9975296 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 734 chr21 19644115 19644116 rs568878904 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19644120 19644121 rs376246097 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19644143 19644143 rs149683483 0 + - - -/TGTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,TGTT, 4842.000000,166.000000, 0.966853,0.033147, maf-5-some-pop 734 chr21 19644149 19644149 rs375226444 0 + - - -/TTTG genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 734 chr21 19644163 19644164 rs186876134 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644179 19644180 rs537887757 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19644182 19644183 rs369997521 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19644212 19644213 rs778323066 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19644222 19644222 rs199794449 0 + - - -/TC genomic insertion by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron between 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,TC, 4942.000000,66.000000, 0.986821,0.013179, 734 chr21 19644255 19644256 rs779486559 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19644265 19644266 rs149490848 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19644266 19644267 rs377543394 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 66.000000,4942.000000, 0.013179,0.986821, 734 chr21 19644275 19644275 rs200611555 0 + - - -/TTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron between 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,TTC, 4923.000000,85.000000, 0.983027,0.016973, 734 chr21 19644281 19644282 rs370161808 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,T, 4997.000000,11.000000, 0.997804,0.002196, 734 chr21 19644290 19644291 rs148773981 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19644295 19644298 rs373923103 0 + TGA TGA -/TGA genomic deletion by-cluster,by-frequency,by-1000genomes 0.070042 0.173537 intron range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,TGA, 182.000000,4826.000000, 0.036342,0.963658, maf-5-some-pop 734 chr21 19644300 19644303 rs371382048 0 + ATG ATG -/ATG genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19644303 19644304 rs540416083 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19644324 19644325 rs539638886 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644351 19644352 rs757761176 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19644359 19644360 rs557933081 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19644371 19644371 rs755341180 0 + - - -/TCTT genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19644386 19644387 rs576486988 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19644438 19644439 rs868848927 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19644456 19644457 rs143770498 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 4 1000GENOMES,EVA-GONL,JMKIDD_LAB,SSMP, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 734 chr21 19644468 19644469 rs561739130 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19644472 19644473 rs573732660 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644509 19644510 rs573886534 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19644533 19644534 rs541304779 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644544 19644544 rs113767780 0 + - - -/TTGT genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 2 1000GENOMES,BUSHMAN, 2 -,TTGT, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19644550 19644550 rs377749226 0 + - - -/GTTT genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 734 chr21 19644555 19644555 rs771135011 0 + - - -/CTT genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 734 chr21 19644568 19644569 rs774793247 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19644585 19644586 rs542913087 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19644594 19644595 rs559640733 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644602 19644603 rs745867697 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19644605 19644606 rs375308774 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19644616 19644617 rs375002556 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19644634 19644635 rs551959144 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644641 19644642 rs569531750 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19644643 19644644 rs772204304 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19644651 19644652 rs369331439 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.046395 0.145069 intron exact 1 4 1000GENOMES,EVA-GONL,LUNTER,TISHKOFF, 2 -,T, 119.000000,4889.000000, 0.023762,0.976238, maf-5-some-pop 734 chr21 19644664 19644665 rs58384566 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.198324 0.244601 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4449.000000,559.000000, 0.888379,0.111621, maf-5-some-pop 734 chr21 19644696 19644697 rs115261178 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.138207 0.223612 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4634.000000,374.000000, 0.925319,0.074680, maf-5-some-pop 734 chr21 19644731 19644732 rs549941217 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19644732 19644733 rs117693986 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19644735 19644736 rs565485938 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19644764 19644765 rs547683046 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644767 19644768 rs113731006 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 734 chr21 19644774 19644775 rs114813406 0 + T T A/T genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 28.000000,4980.000000, 0.005591,0.994409, 734 chr21 19644806 19644807 rs191714638 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19644810 19644811 rs576199751 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19644811 19644812 rs537539140 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19644827 19644828 rs10084582 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.387642 0.208697 intron exact 1 17 1000GENOMES,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3691.000000,1317.000000, 0.737021,0.262979, maf-5-some-pop,maf-5-all-pops 734 chr21 19644835 19644836 rs11910808 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.019769 0.097435 intron exact 1 4 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, 2 G,T, 50.000000,4958.000000, 0.009984,0.990016, 734 chr21 19644837 19644838 rs11909952 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.019769 0.097435 intron exact 1 4 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, 2 C,T, 4958.000000,50.000000, 0.990016,0.009984, 734 chr21 19644864 19644865 rs368403863 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19644865 19644866 rs559578155 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19644868 19644869 rs577432226 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19644891 19644891 rs551466440 0 + - - -/ATT genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,ATT, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19644914 19644915 rs375850326 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19644927 19644928 rs545422396 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 734 chr21 19644934 19644935 rs184340077 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 40.000000,4968.000000, 0.007987,0.992013, 734 chr21 19644950 19644951 rs531044895 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19644958 19644959 rs774362184 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19644965 19644966 rs10084581 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.481242 0.095011 intron exact 1 19 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2989.000000,2019.000000, 0.596845,0.403155, maf-5-some-pop,maf-5-all-pops 734 chr21 19644987 19644988 rs189619963 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19645003 19645004 rs372328408 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645046 19645047 rs528855391 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19645063 19645064 rs556844135 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19645076 19645077 rs71319679 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047915 0.147179 intron exact 1 10 1000GENOMES,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM, 2 C,T, 4885.000000,123.000000, 0.975439,0.024561, 734 chr21 19645078 19645082 rs750234179 0 + TAAA TAAA -/TAAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19645130 19645131 rs565589462 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19645166 19645167 rs10084609 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.201418 0.245234 intron exact 1 14 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 569.000000,4439.000000, 0.113618,0.886382, maf-5-some-pop 734 chr21 19645193 19645193 rs768431482 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 734 chr21 19645207 19645208 rs367789078 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645222 19645223 rs371991091 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645238 19645239 rs541737327 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19645251 19645252 rs144495356 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 734 chr21 19645276 19645277 rs182039963 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19645278 19645279 rs185802698 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19645295 19645296 rs868349901 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19645315 19645316 rs760454207 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19645318 19645319 rs555407139 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19645346 19645347 rs189560023 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19645373 19645374 rs534653138 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19645380 19645381 rs552945496 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19645388 19645389 rs577988455 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19645429 19645430 rs369318267 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645434 19645435 rs113549894 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19645451 19645451 rs550671540 0 + - - -/TGTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron between 1 2 1000GENOMES,HAMMER_LAB, 2 -,TGTC, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19645455 19645455 rs376795476 0 + - - -/TGTC genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 734 chr21 19645484 19645485 rs151049185 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19645489 19645490 rs562158746 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19645567 19645567 rs535389741 0 + - - -/TAAT genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 734 chr21 19645574 19645575 rs557396514 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19645604 19645605 rs35859531 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 734 chr21 19645611 19645612 rs113053492 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 6 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 734 chr21 19645623 19645624 rs543255200 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19645644 19645645 rs757944747 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19645653 19645654 rs561721301 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19645681 19645682 rs528997829 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19645687 19645688 rs541170050 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19645701 19645703 rs535289387 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.000802 0.020012 intron range 1 1 1000GENOMES, 2 -,AT, 2.000000,4982.000000, 0.000401,0.999599, 734 chr21 19645703 19645703 rs572231948 0 + - - -/AT genomic insertion by-frequency,by-1000genomes 0.009543 0.068412 intron between 1 1 1000GENOMES, 2 -,AT, 4982.000000,24.000000, 0.995206,0.004794, 734 chr21 19645708 19645709 rs559286690 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19645728 19645729 rs181499518 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19645735 19645736 rs764540353 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19645746 19645750 rs557464292 0 + ATTA ATTA -/ATTA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,ATTA, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19645758 19645759 rs754221726 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19645771 19645772 rs757644695 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19645784 19645785 rs551626102 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19645798 19645799 rs569868234 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19645801 19645802 rs779228056 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19645815 19645816 rs564138918 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19645849 19645850 rs140925020 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19645916 19645917 rs371917051 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645941 19645942 rs375261959 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645944 19645945 rs369976706 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645951 19645952 rs750960379 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19645953 19645954 rs374506339 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19645964 19645965 rs373440034 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19645986 19645987 rs567169330 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19646011 19646012 rs186142929 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19646051 19646052 rs75978464 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 47.000000,4961.000000, 0.009385,0.990615, 734 chr21 19646081 19646082 rs866665206 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19646085 19646086 rs149807612 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 30.000000,4978.000000, 0.005990,0.994010, 734 chr21 19646087 19646088 rs538676823 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19646088 19646089 rs557594811 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19646091 19646092 rs62213415 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 734 chr21 19646095 19646096 rs575853020 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19646100 19646101 rs190068586 0 + A A A/G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19646157 19646158 rs747205372 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646187 19646188 rs555193973 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19646191 19646192 rs573512432 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19646252 19646253 rs181419505 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19646268 19646269 rs10084615 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.193653 0.243567 intron exact 1 18 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4464.000000,544.000000, 0.891374,0.108626, maf-5-some-pop,genotype-conflict 734 chr21 19646269 19646270 rs79777839 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 52.000000,4956.000000, 0.010383,0.989617, 734 chr21 19646277 19646278 rs561110188 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19646293 19646294 rs866768520 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19646329 19646330 rs780687634 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19646341 19646342 rs768936714 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646372 19646373 rs368944792 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19646376 19646377 rs185904962 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19646387 19646388 rs191156070 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19646397 19646398 rs781400406 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646435 19646436 rs548905581 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19646483 19646484 rs560730648 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19646487 19646488 rs748982221 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646492 19646493 rs10084618 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.384209 0.210922 intron exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3709.000000,1299.000000, 0.740615,0.259385, maf-5-some-pop 734 chr21 19646506 19646507 rs75246775 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 734 chr21 19646532 19646533 rs145743566 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19646536 19646537 rs142194434 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19646550 19646551 rs183777420 0 + T T C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19646573 19646574 rs74978876 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 100.000000,4908.000000, 0.019968,0.980032, maf-5-some-pop 734 chr21 19646592 19646593 rs536932383 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19646615 19646616 rs771687600 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646643 19646644 rs775198626 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646654 19646655 rs73208505 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 734 chr21 19646712 19646713 rs774540067 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19646752 19646753 rs573448026 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19646754 19646755 rs187258372 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19646771 19646772 rs190947449 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19646780 19646781 rs753540446 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646806 19646807 rs762032393 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19646807 19646808 rs554328044 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19646848 19646849 rs10084622 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.373598 0.21731 intron exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3763.000000,1245.000000, 0.751398,0.248602, maf-5-some-pop 734 chr21 19646855 19646856 rs111546592 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19646902 19646903 rs574928074 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19646906 19646907 rs114288382 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 48.000000,4960.000000, 0.009585,0.990415, 734 chr21 19646931 19646932 rs182742098 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19646944 19646945 rs67920992 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.253264 0.249979 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 745.000000,4263.000000, 0.148762,0.851238, maf-5-some-pop 734 chr21 19647052 19647053 rs546483220 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647053 19647054 rs758948988 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647061 19647062 rs565135850 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647088 19647089 rs73208508 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.209388 0.246679 intron exact 1 12 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 595.000000,4413.000000, 0.118810,0.881190, maf-5-some-pop 734 chr21 19647091 19647092 rs758075505 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647098 19647099 rs187371165 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647111 19647112 rs569254243 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647117 19647118 rs540058083 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19647118 19647119 rs867760133 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19647123 19647124 rs536667768 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647130 19647148 rs746639970 0 + TGTTTTTGTTTGTTTGTT TGTTTTTGTTTGTTTGTT -/TGTTTTTGTTTGTTTGTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647134 19647138 rs753338291 0 + TTTG TTTG -/TTTG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647138 19647138 rs776272309 0 + - - -/TTTG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647146 19647151 rs779407087 0 + TTTGT TTTGT -/TTTGT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647167 19647168 rs760830686 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19647173 19647174 rs191644904 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647197 19647198 rs114490763 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4900.000000,108.000000, 0.978435,0.021566, maf-5-some-pop 734 chr21 19647211 19647212 rs781224588 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647233 19647234 rs534355625 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647275 19647276 rs558880539 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647277 19647278 rs183404901 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19647320 19647320 rs34851604 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19647338 19647339 rs538339402 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647351 19647352 rs556663846 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647370 19647371 rs574862328 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647406 19647407 rs768788651 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19647468 19647469 rs776525722 0 + C C C/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 C,T, 121347.000000,1.000000, 0.999992,0.000008, 734 chr21 19647470 19647471 rs761847796 0 + A A A/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 A,T, 121353.000000,1.000000, 0.999992,0.000008, 734 chr21 19647471 19647472 rs2824713 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.182182 0.240626 intron exact 1 21 1000GENOMES,BUSHMAN,CLINSEQ_SNP,DDI,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 12886.000000,113484.000000, 0.101970,0.898030, maf-5-some-pop 734 chr21 19647487 19647488 rs560807077 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000016 0.00287 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 3.000000,126387.000000, 0.000024,0.999976, 734 chr21 19647495 19647496 rs762451157 0 + G G A/G genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121391.000000, 0.000008,0.999992, 734 chr21 19647543 19647544 rs766054019 0 + G G A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121395.000000, 0.000008,0.999992, 734 chr21 19647544 19647545 rs572799952 0 + C C C/T genomic single by-1000genomes 0.000016 0.00287 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126402.000000,2.000000, 0.999984,0.000016, 734 chr21 19647547 19647548 rs756524523 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121395.000000, 0.000008,0.999992, 734 chr21 19647548 19647549 rs778324871 0 + C C A/C genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121395.000000, 0.000008,0.999992, 734 chr21 19647550 19647551 rs754358970 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121395.000000,1.000000, 0.999992,0.000008, 734 chr21 19647552 19647553 rs187533923 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000066 0.00574 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 5.000000,126399.000000, 0.000040,0.999960, 734 chr21 19647569 19647570 rs150307724 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000313 0.012506 missense exact 1 5 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,T, 21.000000,126383.000000, 0.000166,0.999834, 734 chr21 19647580 19647581 rs745964174 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121393.000000, 0.000008,0.999992, 734 chr21 19647589 19647590 rs758472933 0 + T T C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121401.000000, 0.000008,0.999992, 734 chr21 19647590 19647591 rs780237847 0 + G G A/C/G genomic single by-frequency 0.000033 0.004059 nonsense,missense exact 1 SingleClassTriAllelic 2 EVA_EXAC,EVA_MGP, 3 A,C,G, 1.000000,1.000000,121396.000000, 0.000008,0.000008,0.999984, 734 chr21 19647592 19647593 rs138935935 0 + T T C/T genomic single by-cluster 0.000033 0.004059 missense exact 1 3 EVA_EXAC,JMKIDD_LAB,NHLBI-ESP, 2 C,T, 2.000000,121398.000000, 0.000016,0.999984, 734 chr21 19647596 19647597 rs776438500 0 + A A A/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,T, 121397.000000,1.000000, 0.999992,0.000008, 734 chr21 19647597 19647598 rs747980933 0 + T T A/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,121397.000000, 0.000008,0.999992, 734 chr21 19647601 19647602 rs769779994 0 + T T C/T genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121398.000000, 0.000016,0.999984, 734 chr21 19647602 19647603 rs773093599 0 + C C C/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,G, 121397.000000,1.000000, 0.999992,0.000008, 734 chr21 19647630 19647631 rs762511862 0 + T T C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121399.000000, 0.000008,0.999992, 734 chr21 19647654 19647655 rs766036459 0 + T T A/T genomic single unknown 0.000016 0.00287 splice-3 exact 1 1 EVA_EXAC, 2 A,T, 1.000000,121369.000000, 0.000008,0.999992, 734 chr21 19647655 19647656 rs532367416 0 + G G A/G genomic single by-1000genomes 0.000049 0.004971 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 4.000000,126374.000000, 0.000032,0.999968, 734 chr21 19647667 19647668 rs759294960 0 + G G A/G genomic single by-frequency 0.000066 0.005741 intron exact 1 1 EVA_EXAC, 2 A,G, 4.000000,121344.000000, 0.000033,0.999967, 734 chr21 19647676 19647677 rs764503512 0 + C C C/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 C,T, 121341.000000,1.000000, 0.999992,0.000008, 734 chr21 19647678 19647679 rs138941409 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007618 0.061247 intron exact 1 9 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 G,T, 125874.000000,478.000000, 0.996217,0.003783, 734 chr21 19647679 19647680 rs778817419 0 + C C C/T genomic single unknown 0.000016 0.002871 intron exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 121333.000000,1.000000, 0.999992,0.000008, 734 chr21 19647682 19647683 rs765768908 0 + G G G/T genomic single by-frequency 0.000033 0.00406 intron exact 1 1 EVA_EXAC, 2 G,T, 121328.000000,2.000000, 0.999983,0.000016, 734 chr21 19647684 19647685 rs750945460 0 + C C A/C genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121321.000000, 0.000008,0.999992, 734 chr21 19647687 19647688 rs201846019 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000198 0.009943 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 126323.000000,13.000000, 0.999897,0.000103, 734 chr21 19647689 19647690 rs780144869 0 + G G A/G genomic single by-frequency 0.000066 0.005741 intron exact 1 1 EVA_EXAC, 2 A,G, 4.000000,121320.000000, 0.000033,0.999967, 734 chr21 19647694 19647695 rs530076732 0 + C C A/C genomic single by-1000genomes 0.000016 0.002872 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 2.000000,126240.000000, 0.000016,0.999984, 734 chr21 19647698 19647699 rs755209446 0 + A A A/G genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 A,G, 121237.000000,1.000000, 0.999992,0.000008, 734 chr21 19647699 19647700 rs780900202 0 + T T C/T genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121229.000000, 0.000008,0.999992, 734 chr21 19647700 19647701 rs540692575 0 + G G C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 EVA-GONL,EVA_EXAC, 0 734 chr21 19647701 19647716 rs769202582 0 + CATCCTTGAATGAAC CATCCTTGAATGAAC -/CATCCTTGAATGAAC genomic deletion unknown 0.000132 0.008123 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,CATCCTTGAATGAAC, 8.000000,121181.000000, 0.000066,0.999934, 734 chr21 19647701 19647702 rs769538585 0 + C C C/T genomic single unknown 0.000017 0.002873 intron exact 1 MixedObserved 1 EVA_EXAC, 2 C,T, 121161.000000,1.000000, 0.999992,0.000008, 734 chr21 19647702 19647703 rs548607332 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647703 19647704 rs368261115 0 + T T A/T genomic single unknown 0.000154 0.008773 intron exact 1 1 NHLBI-ESP, 2 A,T, 1.000000,13005.000000, 0.000077,0.999923, 734 chr21 19647720 19647721 rs535800699 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19647736 19647737 rs368936114 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19647742 19647743 rs28438747 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSAHASNP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19647763 19647764 rs527968260 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647791 19647792 rs745779963 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19647811 19647812 rs192629167 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19647843 19647844 rs141482463 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19647872 19647873 rs555805851 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19647883 19647884 rs538451916 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647887 19647888 rs556602224 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19647890 19647891 rs375833531 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19647927 19647928 rs184417095 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647958 19647959 rs75073990 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 734 chr21 19647964 19647965 rs74364162 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4957.000000,51.000000, 0.989816,0.010184, maf-5-some-pop 734 chr21 19647965 19647966 rs540137314 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19647976 19647977 rs370222545 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19647981 19647981 rs563374278 0 + - - -/TGT genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,TGT, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19648008 19648009 rs760203222 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19648055 19648056 rs768302677 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19648059 19648060 rs147989924 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648080 19648081 rs576928265 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648092 19648093 rs141609553 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,JMKIDD_LAB,SSMP,TISHKOFF, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 734 chr21 19648115 19648116 rs562924782 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648117 19648118 rs115817211 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 129.000000,4879.000000, 0.025759,0.974241, maf-5-some-pop 734 chr21 19648118 19648119 rs761563846 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19648149 19648150 rs542382822 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648179 19648180 rs1079663 0 - C C G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.362732 0.22314 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 3816.000000,1192.000000, 0.761981,0.238019, maf-5-some-pop,genotype-conflict 734 chr21 19648222 19648223 rs370526756 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19648307 19648308 rs79401121 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4989.000000,19.000000, 0.996206,0.003794, 734 chr21 19648327 19648328 rs199827227 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19648334 19648335 rs373857505 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19648370 19648371 rs371662377 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19648386 19648387 rs746240804 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19648397 19648398 rs531769515 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648464 19648465 rs549964093 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648482 19648483 rs574741285 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648484 19648485 rs866363246 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19648501 19648502 rs150541209 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19648513 19648514 rs375064386 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648514 19648515 rs566318876 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648515 19648516 rs533798421 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648516 19648517 rs558531331 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648523 19648524 rs531873266 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19648529 19648530 rs189318849 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648530 19648531 rs138555031 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648534 19648535 rs868853924 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19648536 19648542 rs386816745 0 + GTGTAG GTGTAG AA/GTGTAG genomic in-del unknown 0 0 intron rangeDeletion 1 FlankMismatchGenomeShorter 1 TISHKOFF, 0 734 chr21 19648541 19648542 rs11911826 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.372391 0.217992 intron exact 1 23 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1239.000000,3769.000000, 0.247404,0.752596, maf-5-some-pop 734 chr21 19648542 19648543 rs754640178 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19648566 19648567 rs192536335 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19648572 19648573 rs184512212 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19648583 19648584 rs189219873 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648615 19648616 rs181214455 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19648623 19648624 rs546185847 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648637 19648638 rs372548865 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19648683 19648684 rs571525613 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19648706 19648707 rs752285549 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19648728 19648729 rs534197495 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648752 19648753 rs142152748 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19648761 19648762 rs757675267 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19648813 19648814 rs755013318 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19648838 19648839 rs146376010 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19648864 19648865 rs550098401 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19648903 19648904 rs2824714 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.377187 0.215229 intron exact 1 26 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1263.000000,3745.000000, 0.252196,0.747804, maf-5-some-pop 734 chr21 19648938 19648939 rs752842815 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19648965 19648966 rs529469678 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19648972 19648973 rs543474640 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 0 734 chr21 19648985 19648986 rs547846754 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19649071 19649072 rs200476885 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 734 chr21 19649072 19649077 rs372920414 0 + TTTTT TTTTT -/TTTTT genomic deletion unknown 0 0 intron range 1 MixedObserved,SingleAlleleFreq 1 BUSHMAN, 1 -, 2.000000, 1.000000, 734 chr21 19649072 19649078 rs796158107 0 + TTTTTT TTTTTT -/TTTTTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HAMMER_LAB, 0 734 chr21 19649088 19649093 rs567312985 0 + TTTTT TTTTT -/TTTTT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 734 chr21 19649145 19649146 rs566572203 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19649161 19649162 rs200326792 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19649162 19649163 rs552149525 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19649181 19649182 rs778569211 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19649190 19649191 rs113615388 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19649200 19649201 rs186664779 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19649201 19649202 rs745591148 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19649216 19649217 rs139689314 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19649233 19649234 rs370217177 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 734 chr21 19649247 19649248 rs556524599 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19649271 19649272 rs574656792 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19649285 19649286 rs780088983 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19649302 19649303 rs113729061 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.378962 0.21417 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3736.000000,1272.000000, 0.746006,0.253994, maf-5-some-pop,maf-5-all-pops 734 chr21 19649329 19649330 rs553931825 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19649345 19649346 rs572503709 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19649353 19649354 rs546025521 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19649367 19649368 rs144381751 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19649371 19649372 rs865948858 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19649372 19649373 rs114960137 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 734 chr21 19649377 19649378 rs768017594 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19649393 19649394 rs7278155 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.21303 0.247251 intron exact 1 14 1000GENOMES,BCM_SSAHASNP,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4401.000000,607.000000, 0.878794,0.121206, maf-5-some-pop 734 chr21 19649443 19649444 rs562063508 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19649444 19649445 rs79032784 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 734 chr21 19649468 19649469 rs74805583 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, maf-5-some-pop 734 chr21 19649477 19649478 rs559743437 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19649510 19649511 rs7278326 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.147321 0.227941 intron exact 1 17 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4607.000000,401.000000, 0.919928,0.080072, maf-5-some-pop 734 chr21 19649514 19649515 rs747737394 0 + C C A/C/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19649542 19649543 rs189666947 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 A,C, 26.000000,4982.000000, 0.005192,0.994808, 734 chr21 19649566 19649567 rs2824715 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.383439 0.21141 intron exact 1 19 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1295.000000,3713.000000, 0.258586,0.741414, maf-5-some-pop 734 chr21 19649601 19649602 rs537861753 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19649602 19649603 rs148721502 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19649607 19649608 rs2824716 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.383632 0.211288 intron exact 1 18 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1296.000000,3712.000000, 0.258786,0.741214, maf-5-some-pop,maf-5-all-pops 734 chr21 19649621 19649622 rs180729799 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19649626 19649627 rs553927687 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19649626 19649626 rs145576456 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.037988 0.132479 intron between 1 MixedObserved 2 1000GENOMES,LUNTER, 2 -,A, 4911.000000,97.000000, 0.980631,0.019369, maf-5-some-pop 734 chr21 19649664 19649668 rs528780448 0 + AAAG AAAG -/AAAG genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,AAAG, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19649698 19649699 rs565775606 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19649700 19649701 rs539902171 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19649720 19649721 rs557994620 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19649790 19649791 rs185992838 0 + A A A/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,T, 4990.000000,18.000000, 0.996406,0.003594, 734 chr21 19649809 19649810 rs373710744 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19649817 19649818 rs543421782 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19649825 19649826 rs376954842 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19649861 19649862 rs190707520 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19649907 19649908 rs573991657 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19649928 19649929 rs563727316 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 14.000000,4994.000000, 0.002796,0.997204, 734 chr21 19649931 19649932 rs183427838 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19649953 19649954 rs185806899 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19649985 19649986 rs532663775 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19649989 19649990 rs142259454 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 734 chr21 19649990 19649991 rs558830251 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650024 19650025 rs151275904 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19650060 19650061 rs78303641 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.067446 0.170804 intron exact 1 9 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 175.000000,4833.000000, 0.034944,0.965056, maf-5-some-pop 734 chr21 19650061 19650062 rs141608930 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 A,T, 26.000000,4982.000000, 0.005192,0.994808, 734 chr21 19650110 19650111 rs75286851 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 734 chr21 19650121 19650122 rs529177536 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19650183 19650184 rs547405094 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19650196 19650197 rs565841592 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19650212 19650213 rs752890361 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650227 19650228 rs866394339 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19650228 19650229 rs539274296 0 + C C A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19650260 19650261 rs371141242 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19650304 19650305 rs571693896 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19650313 19650314 rs569818216 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19650329 19650330 rs781265286 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 734 chr21 19650334 19650335 rs754132560 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650362 19650363 rs537196252 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19650438 19650439 rs555333689 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19650439 19650440 rs373159223 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,SSIP,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19650492 19650496 rs547293942 0 + AAAG AAAG -/AAAG genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 734 chr21 19650513 19650514 rs190615685 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19650562 19650563 rs780031492 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650564 19650565 rs113040258 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19650568 19650569 rs565096280 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19650609 19650610 rs111838812 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,WEILL_CORNELL_DGM, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19650615 19650621 rs567437338 0 + TTTAAG TTTAAG -/TTTAAG genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 1 1000GENOMES, 2 -,TTTAAG, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19650661 19650661 rs199937961 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19650663 19650663 rs35194749 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron between 1 14 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 12.000000,4996.000000, 0.002396,0.997604, 734 chr21 19650666 19650666 rs397712577 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 BGI, 0 734 chr21 19650667 19650667 rs397819125 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 G, 2.000000, 1.000000, 734 chr21 19650668 19650668 rs869054417 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 734 chr21 19650692 19650693 rs560646896 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19650697 19650698 rs746918533 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650709 19650710 rs754996490 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650734 19650735 rs28436812 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 734 chr21 19650744 19650745 rs574236568 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19650761 19650762 rs543126058 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19650768 19650769 rs562895148 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19650774 19650775 rs553410333 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19650788 19650789 rs780559641 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650828 19650829 rs578095252 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19650838 19650839 rs373621947 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19650845 19650846 rs747640351 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650863 19650864 rs113314753 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 194.000000,4814.000000, 0.038738,0.961262, maf-5-some-pop 734 chr21 19650880 19650880 rs534603333 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron between 1 2 1000GENOMES,HAMMER_LAB, 2 -,A, 4956.000000,52.000000, 0.989617,0.010383, 734 chr21 19650896 19650897 rs564123517 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19650909 19650910 rs111769042 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19650926 19650927 rs543582690 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19650928 19650929 rs34807048 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 16 1000GENOMES,ABI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,T, 4913.000000,95.000000, 0.981030,0.018970, maf-5-some-pop 734 chr21 19650930 19650931 rs200203705 0 + T T G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 734 chr21 19650930 19650931 rs398036185 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 734 chr21 19650968 19650969 rs767199947 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 734 chr21 19650993 19650994 rs748982115 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19650994 19650995 rs561650799 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19651021 19651022 rs528904861 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19651033 19651034 rs370374372 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19651097 19651098 rs527662062 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19651109 19651110 rs183530630 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19651140 19651141 rs188134114 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19651141 19651142 rs533105827 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651151 19651152 rs150379645 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651152 19651153 rs569557580 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651173 19651174 rs537134918 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651232 19651233 rs773179951 0 + C C C/T genomic single by-frequency 0.000064 0.005651 intron exact 1 1 EVA_EXAC, 2 C,T, 62610.000000,2.000000, 0.999968,0.000032, 734 chr21 19651233 19651234 rs749223834 0 + C C C/T genomic single unknown 0.000032 0.004003 intron exact 1 1 EVA_EXAC, 2 C,T, 62385.000000,1.000000, 0.999984,0.000016, 734 chr21 19651237 19651237 rs74277479 0 + - - -/TTT genomic insertion unknown 0 0 intron between 1 1 BCMHGSC_JDW, 0 734 chr21 19651239 19651239 rs774353205 0 + - - -/G genomic insertion by-frequency 0.000167 0.009137 intron between 1 1 EVA_EXAC, 2 -,G, 59859.000000,5.000000, 0.999916,0.000084, 734 chr21 19651240 19651240 rs200947281 0 + - - -/GTTT/GTTTGTTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.018788 0.095093 intron between 1 2 1000GENOMES,EVA_EXAC, 3 -,GTTT,GTTTGTTT, 57256.000000,683.000000,3.000000, 0.988161,0.011788,0.000052, maf-5-some-pop 734 chr21 19651241 19651243 rs750663806 0 + TT TT -/TT genomic deletion unknown 0.008463 0.064499 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,TT, 105.000000,24602.000000, 0.004250,0.995750, 734 chr21 19651241 19651242 rs760864051 0 + T T -/T genomic deletion unknown 0.445842 0.15539 intron exact 1 MixedObserved 1 EVA_EXAC, 2 -,T, 105.000000,53.000000, 0.664557,0.335443, 734 chr21 19651241 19651241 rs769392758 0 + - - -/T/TT/TTT/TTTT genomic insertion by-cluster 0.030051 0.119885 intron between 1 2 EVA_EXAC,SSMP, 5 -,T,TT,TTT,TTTT, 105.000000,53.000000,24602.000000,102.000000,119.000000, 0.004203,0.002122,0.984828,0.004083,0.004764, rs-cluster-nonoverlapping-alleles 734 chr21 19651242 19651242 rs869215541 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HUMANGENOME_JCVI, 0 734 chr21 19651244 19651245 rs770526889 0 + T T G/T genomic single by-cluster,by-frequency 0.001088 0.023294 intron exact 1 MixedObserved 4 EVA_EXAC,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 3.000000,5511.000000, 0.000544,0.999456, 734 chr21 19651244 19651244 rs201910878 0 + - - -/G genomic insertion by-1000genomes 0.075037 0.178572 intron between 1 MixedObserved 1 1000GENOMES, 2 -,G, 11814.000000,480.000000, 0.960957,0.039043, 734 chr21 19651247 19651248 rs774022841 0 + T T C/T genomic single unknown 0.000208 0.010186 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,9633.000000, 0.000104,0.999896, 734 chr21 19651248 19651249 rs759205218 0 + T T C/T genomic single by-frequency 0.000932 0.021564 intron exact 1 1 EVA_EXAC, 2 C,T, 5.000000,10723.000000, 0.000466,0.999534, 734 chr21 19651250 19651251 rs767282140 0 + T T G/T genomic single by-frequency 0.000462 0.015198 intron exact 1 1 EVA_EXAC, 2 G,T, 3.000000,12971.000000, 0.000231,0.999769, 734 chr21 19651253 19651254 rs775071654 0 + T T A/T genomic single by-frequency 0.000333 0.012892 intron exact 1 1 EVA_EXAC, 2 A,T, 3.000000,18033.000000, 0.000166,0.999834, 734 chr21 19651261 19651262 rs74575940 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19651262 19651264 rs59972471 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 734 chr21 19651264 19651267 rs751388963 0 + GAG GAG -/GAG genomic deletion by-frequency 0.000732 0.019113 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,GAG, 27.000000,73751.000000, 0.000366,0.999634, 734 chr21 19651264 19651265 rs762223570 0 + G G A/G/T genomic single by-frequency 0.024792 0.108551 intron exact 1 MixedObserved,SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 1.000000,19587.000000,248.000000, 0.000050,0.987447,0.012502, 734 chr21 19651264 19651264 rs568602960 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 2 HUMANGENOME_JCVI,PJP, 0 734 chr21 19651265 19651266 rs750907326 0 + A A A/T genomic single by-frequency 0.010481 0.071627 intron exact 1 1 EVA_EXAC, 2 A,T, 46828.000000,248.000000, 0.994732,0.005268, 734 chr21 19651266 19651267 rs758932690 0 + G G A/G/T genomic single by-frequency 0.008131 0.063248 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 4.000000,61970.000000,250.000000, 0.000064,0.995918,0.004018, 734 chr21 19651268 19651269 rs751645900 0 + C C C/T genomic single by-frequency 0.000115 0.007589 intron exact 1 1 EVA_EXAC, 2 C,T, 69432.000000,4.000000, 0.999942,0.000058, 734 chr21 19651269 19651270 rs755119717 0 + T T A/T genomic single by-frequency 0.00019 0.009757 intron exact 1 1 EVA_EXAC, 2 A,T, 7.000000,73487.000000, 0.000095,0.999905, 734 chr21 19651280 19651281 rs781382139 0 + C C C/T genomic single unknown 0.000024 0.0035 missense exact 1 1 EVA_EXAC, 2 C,T, 81635.000000,1.000000, 0.999988,0.000012, 734 chr21 19651281 19651282 rs752912437 0 + T T C/G/T genomic single by-frequency 0.000048 0.004914 coding-synon,missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 1.000000,1.000000,82810.000000, 0.000012,0.000012,0.999976, 734 chr21 19651289 19651290 rs777462454 0 + C C A/C genomic single by-frequency 0.000136 0.008242 missense exact 1 1 EVA_EXAC, 2 A,C, 6.000000,88300.000000, 0.000068,0.999932, 734 chr21 19651292 19651293 rs749202479 0 + C C A/C genomic single unknown 0.000022 0.003313 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,91121.000000, 0.000011,0.999989, 734 chr21 19651293 19651294 rs771004816 0 + C C C/T genomic single unknown 0.000022 0.003299 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 91895.000000,1.000000, 0.999989,0.000011, 734 chr21 19651294 19651295 rs778496939 0 + G G A/G genomic single unknown 0.000022 0.003292 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,92255.000000, 0.000011,0.999989, 734 chr21 19651303 19651304 rs745366672 0 + C C C/G genomic single by-frequency 0.000062 0.005561 missense exact 1 1 EVA_EXAC, 2 C,G, 96981.000000,3.000000, 0.999969,0.000031, 734 chr21 19651306 19651307 rs73320125 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.04051 0.136433 missense exact 1 17 1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_MGP,EXOME_CHIP,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2284.000000,101212.000000, 0.022068,0.977931, maf-5-some-pop 734 chr21 19651310 19651311 rs775181664 0 + T T C/T genomic single unknown 0.00002 0.003173 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,99319.000000, 0.000010,0.999990, 734 chr21 19651312 19651313 rs760281151 0 + G G G/T genomic single by-frequency 0.00004 0.004476 missense exact 1 1 EVA_EXAC, 2 G,T, 99814.000000,2.000000, 0.999980,0.000020, 734 chr21 19651319 19651320 rs371964214 0 + T T A/T genomic single by-cluster,by-frequency 0.000039 0.004442 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 2.000000,101332.000000, 0.000020,0.999980, 734 chr21 19651327 19651328 rs756826502 0 + G G -/G genomic deletion unknown 0.00002 0.003145 frameshift exact 1 1 EVA_EXAC, 2 -,G, 1.000000,101123.000000, 0.000010,0.999990, 734 chr21 19651328 19651329 rs147119206 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011249 0.074147 missense exact 1 9 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_MGP,EXOME_CHIP,NHLBI-ESP, 2 C,G, 591.000000,105367.000000, 0.005578,0.994422, 734 chr21 19651329 19651330 rs763387419 0 + A A A/G genomic single by-frequency 0.00004 0.004458 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 100630.000000,2.000000, 0.999980,0.000020, 734 chr21 19651336 19651338 rs780802518 0 + AC AC -/AC genomic deletion by-frequency 0.00004 0.004481 frameshift range 1 1 EVA_EXAC, 2 -,AC, 2.000000,99608.000000, 0.000020,0.999980, 734 chr21 19651338 19651339 rs564648017 0 + T T C/T genomic single by-cluster 0 0 coding-synon exact 1 MixedObserved 1 JMKIDD_LAB, 0 734 chr21 19651338 19651340 rs745568335 0 + TT TT -/TT genomic deletion unknown 0.00002 0.003182 frameshift range 1 MixedObserved 1 EVA_EXAC, 2 -,TT, 1.000000,98789.000000, 0.000010,0.999990, 734 chr21 19651340 19651341 rs138070518 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008699 0.065374 missense exact 1 11 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,G, 445.000000,103225.000000, 0.004292,0.995708, 734 chr21 19651344 19651345 rs752122556 0 + T T C/T genomic single unknown 0.00002 0.003197 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,97833.000000, 0.000010,0.999990, 734 chr21 19651350 19651351 rs759593084 0 + C C C/T genomic single by-frequency 0.000062 0.005575 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 96489.000000,3.000000, 0.999969,0.000031, 734 chr21 19651354 19651355 rs769541174 0 + A A -/A genomic deletion unknown 0.000016 0.002871 frameshift exact 1 1 EVA_EXAC, 2 -,A, 1.000000,121311.000000, 0.000008,0.999992, 734 chr21 19651356 19651357 rs17698445 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.193617 0.243559 coding-synon exact 1 23 1000GENOMES,AFFY,CHURCH_CG54K,CLINSEQ_SNP,DDI,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 90372.000000,11042.000000, 0.891120,0.108880, maf-5-some-pop 734 chr21 19651360 19651361 rs147260020 0 + A A A/G genomic single by-cluster 0.000022 0.003282 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 92849.000000,1.000000, 0.999989,0.000011, 734 chr21 19651362 19651363 rs756314795 0 + A A A/G genomic single unknown 0.000022 0.003287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 92535.000000,1.000000, 0.999989,0.000011, 734 chr21 19651367 19651368 rs777567484 0 + G G C/G genomic single by-frequency 0.000175 0.009364 missense exact 1 1 EVA_EXAC, 2 C,G, 8.000000,91192.000000, 0.000088,0.999912, 734 chr21 19651380 19651381 rs753689294 0 + A A A/G genomic single unknown 0.000023 0.003391 intron exact 1 1 EVA_EXAC, 2 A,G, 86979.000000,1.000000, 0.999988,0.000011, 734 chr21 19651386 19651387 rs757183870 0 + A A A/T genomic single by-frequency 0.000256 0.01131 intron exact 1 1 EVA_EXAC, 2 A,T, 85923.000000,11.000000, 0.999872,0.000128, 734 chr21 19651388 19651389 rs778981126 0 + G G C/G genomic single by-frequency 0.000024 0.003449 intron exact 1 1 EVA_EXAC, 2 C,G, 1.000000,84067.000000, 0.000012,0.999988, 734 chr21 19651396 19651397 rs745848738 0 + C C A/C genomic single by-frequency 0.000025 0.003543 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,79679.000000, 0.000013,0.999987, 734 chr21 19651406 19651407 rs771673357 0 + A A A/G genomic single by-frequency 0.000055 0.005243 intron exact 1 1 EVA_EXAC, 2 A,G, 72738.000000,2.000000, 0.999973,0.000027, 734 chr21 19651410 19651411 rs779457622 0 + G G A/G genomic single by-frequency 0.000029 0.003782 intron exact 1 MixedObserved 1 EVA_EXAC, 2 A,G, 1.000000,69891.000000, 0.000014,0.999986, 734 chr21 19651410 19651429 rs780634629 0 + GAAGAAAAAGAAAGAACAG GAAGAAAAAGAAAGAACAG -/GAAGAAAAAGAAAGAACAG genomic deletion unknown 0.000028 0.003719 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,GAAGAAAAAGAAAGAACAG, 1.000000,72286.000000, 0.000014,0.999986, 734 chr21 19651411 19651412 rs746620604 0 + A A A/G genomic single by-frequency 0.000059 0.005442 intron exact 1 1 EVA_EXAC, 2 A,G, 67514.000000,2.000000, 0.999970,0.000030, 734 chr21 19651413 19651414 rs368504172 0 + G G G/T genomic single by-cluster,by-frequency 0.00003 0.003865 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 G,T, 66951.000000,1.000000, 0.999985,0.000015, 734 chr21 19651415 19651416 rs776413623 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_EXAC, 0 734 chr21 19651416 19651420 rs200479096 0 + AAAG AAAG -/AAAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.018338 0.093982 intron range 1 7 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AAAG, 679.000000,72296.000000, 0.009305,0.990695, 734 chr21 19651423 19651424 rs763293926 0 + G G A/G genomic single unknown 0.000031 0.003956 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,63887.000000, 0.000016,0.999984, 734 chr21 19651424 19651425 rs771336869 0 + A A A/G genomic single unknown 0.000031 0.003949 intron exact 1 1 EVA_EXAC, 2 A,G, 64111.000000,1.000000, 0.999984,0.000016, 734 chr21 19651426 19651427 rs774809018 0 + C C C/G genomic single by-frequency 0.000064 0.005638 intron exact 1 1 EVA_EXAC, 2 C,G, 62916.000000,2.000000, 0.999968,0.000032, 734 chr21 19651454 19651455 rs182632407 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_MGP, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 734 chr21 19651455 19651456 rs539365566 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_MGP, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19651468 19651472 rs146513880 0 + AGTT AGTT -/AGTT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 734 chr21 19651476 19651477 rs557579037 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19651489 19651490 rs201132740 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA-GONL, 0 734 chr21 19651500 19651500 rs35775458 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19651501 19651502 rs575942907 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19651527 19651528 rs772563815 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19651547 19651548 rs543516144 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19651556 19651557 rs561782768 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19651572 19651573 rs768966526 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 734 chr21 19651578 19651579 rs186979909 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19651606 19651607 rs540673356 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651621 19651622 rs112148690 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 40.000000,4968.000000, 0.007987,0.992013, 734 chr21 19651622 19651628 rs71329778 0 + TTACTC TTACTC CTACTCT/TTACTC genomic in-del unknown 0.5 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HUMANGENOME_JCVI, 2 CTACTCT,TTACTC, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19651622 19651623 rs559635923 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 MixedObserved 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 C,T, 54.000000,4954.000000, 0.010783,0.989217, 734 chr21 19651659 19651660 rs71189593 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 734 chr21 19651662 19651663 rs551299290 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651664 19651665 rs563123236 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19651682 19651683 rs530638217 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19651694 19651695 rs370954087 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19651698 19651699 rs112892149 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.067817 0.1712 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4832.000000,176.000000, 0.964856,0.035144, maf-5-some-pop 734 chr21 19651702 19651703 rs113482895 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, 734 chr21 19651720 19651721 rs748175113 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19651742 19651743 rs534968240 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19651787 19651788 rs546675182 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651791 19651792 rs571654668 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19651797 19651798 rs143005666 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 4884.000000,124.000000, 0.975240,0.024760, maf-5-some-pop 734 chr21 19651805 19651806 rs9983629 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19651817 19651818 rs9975116 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 734 chr21 19651819 19651822 rs568503406 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSIP, 0 734 chr21 19651819 19651819 rs751960235 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA_GENOME_DK, 0 734 chr21 19651831 19651832 rs112711803 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.113685 0.209567 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 303.000000,4705.000000, 0.060503,0.939497, maf-5-some-pop 734 chr21 19651834 19651835 rs138523056 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 G,T, 124.000000,4884.000000, 0.024760,0.975240, maf-5-some-pop 734 chr21 19651844 19651845 rs534309747 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 734 chr21 19651872 19651873 rs528376381 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19651886 19651887 rs548428451 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19651901 19651902 rs573654669 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19651902 19651903 rs367904646 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19651928 19651929 rs764109802 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19651945 19651946 rs773181607 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19651946 19651947 rs113259513 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19651960 19651961 rs559072760 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19651977 19651978 rs113477781 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19651984 19651985 rs9983169 0 + G G A/G genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 G, 410.000000, 1.000000, 734 chr21 19651990 19651991 rs754079185 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652005 19652006 rs762173697 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652049 19652050 rs193049545 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19652068 19652069 rs544874021 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652074 19652075 rs563255242 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652091 19652092 rs766260172 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652092 19652093 rs185229824 0 + T T A/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 A,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19652128 19652129 rs548766496 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652147 19652148 rs554106292 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 734 chr21 19652174 19652175 rs573571502 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 734 chr21 19652184 19652185 rs561182842 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652190 19652191 rs528567103 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652217 19652218 rs547105050 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652265 19652266 rs189683873 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19652306 19652307 rs76631550 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 4 1000GENOMES,BGI,GMI,SSMP, 2 A,T, 43.000000,4965.000000, 0.008586,0.991414, 734 chr21 19652316 19652317 rs62213416 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 11 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 55.000000,4953.000000, 0.010982,0.989018, 734 chr21 19652339 19652340 rs181287750 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19652351 19652352 rs78996722 0 + G G A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.058125 0.162027 intron exact 1 SingleClassQuadAllelic,InconsistentAlleles 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 C,G,T, 49.000000,4859.000000,100.000000, 0.009784,0.970248,0.019968, maf-5-some-pop,maf-5-all-pops 734 chr21 19652376 19652377 rs528067650 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19652391 19652392 rs781138886 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652423 19652424 rs543125305 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19652440 19652441 rs73320133 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.128632 0.218563 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4662.000000,346.000000, 0.930911,0.069090, maf-5-some-pop 734 chr21 19652441 19652442 rs755622341 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652500 19652501 rs576543152 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652526 19652527 rs112275790 0 + A A A/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 734 chr21 19652565 19652566 rs748928643 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652569 19652570 rs553057054 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652571 19652577 rs545332161 0 + TAATAT TAATAT -/TAATAT genomic deletion by-frequency,by-1000genomes 0.004383 0.04661 intron range 1 1 1000GENOMES, 2 -,TAATAT, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19652581 19652582 rs185064082 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19652606 19652607 rs770637622 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652614 19652615 rs544612461 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19652621 19652622 rs767062600 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19652657 19652658 rs775277958 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19652659 19652660 rs760248672 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19652663 19652664 rs9978155 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.298144 0.245321 intron exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4095.000000,913.000000, 0.817692,0.182308, maf-5-some-pop 734 chr21 19652671 19652672 rs575179403 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652675 19652676 rs112629518 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.391211 0.2063 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3672.000000,1336.000000, 0.733227,0.266773, maf-5-some-pop,maf-5-all-pops 734 chr21 19652682 19652683 rs560909420 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19652688 19652689 rs150698731 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 734 chr21 19652689 19652690 rs112692546 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19652701 19652702 rs528030391 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652706 19652707 rs113206253 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.128288 0.218372 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4663.000000,345.000000, 0.931110,0.068890, maf-5-some-pop 734 chr21 19652727 19652728 rs113009667 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19652733 19652734 rs112096835 0 + A A A/C genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19652736 19652737 rs149775194 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19652749 19652750 rs569317300 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19652774 19652775 rs530404247 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652776 19652777 rs548893770 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19652835 19652836 rs113704126 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.314544 0.241524 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4029.000000,979.000000, 0.804513,0.195487, maf-5-some-pop,maf-5-all-pops 734 chr21 19652836 19652837 rs534417768 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19652840 19652841 rs200794988 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19652852 19652853 rs549993156 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19652869 19652870 rs571010662 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19652876 19652877 rs188291315 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19652879 19652880 rs866713893 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19652886 19652887 rs139871133 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,WEILL_CORNELL_DGM, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 734 chr21 19652887 19652888 rs574928053 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19652891 19652892 rs77438870 0 + C C A/C genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 A, 2.000000, 1.000000, 734 chr21 19652894 19652895 rs78464991 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19652900 19652903 rs796618505 0 + AAA AAA AAA/CAAACAAACAAAC genomic in-del unknown 0 0 intron rangeInsertion 1 FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 734 chr21 19652902 19652903 rs866489837 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19652903 19652903 rs796868995 0 + - - -/ACAAACAAAC genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 734 chr21 19652909 19652910 rs113620356 0 + A A A/C genomic single by-cluster 0.5 0 intron exact 1 3 COMPLETE_GENOMICS,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19652911 19652916 rs761915150 0 + ACAAC ACAAC -/ACAAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19652912 19652913 rs113300437 0 + C C A/C genomic single by-cluster 0.5 0 intron exact 1 MixedObserved 2 COMPLETE_GENOMICS,GMI, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19652912 19652916 rs146307134 0 + CAAC CAAC -/CAAC genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 734 chr21 19652912 19652913 rs371391563 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 LUNTER,SSMP, 0 734 chr21 19652912 19652912 rs57759464 0 + - - -/AAAAAAAAAAACAA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 734 chr21 19652915 19652916 rs868818197 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19652918 19652923 rs376844112 0 + AACAA AACAA -/AACAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19652925 19652925 rs141262130 0 + - - -/AAAAACC genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 0 734 chr21 19652935 19652935 rs376369333 0 + - - -/AACCAAA genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 734 chr21 19652998 19652999 rs776905676 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19653001 19653002 rs111672148 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,BUSHMAN,TISHKOFF, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19653031 19653032 rs532203925 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19653036 19653037 rs181812212 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19653045 19653046 rs540426018 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19653061 19653062 rs564980444 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19653069 19653070 rs552389489 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19653105 19653106 rs767030982 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19653145 19653146 rs532642857 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19653157 19653158 rs544755061 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19653187 19653188 rs73320140 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.127944 0.218179 intron exact 1 11 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4664.000000,344.000000, 0.931310,0.068690, maf-5-some-pop 734 chr21 19653273 19653273 rs774373164 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19653312 19653313 rs768845703 0 + A A -/A genomic deletion unknown 0.000017 0.00289 intron exact 1 1 EVA_EXAC, 2 -,A, 1.000000,119753.000000, 0.000008,0.999992, 734 chr21 19653329 19653330 rs765485138 0 + T T C/T genomic single unknown 0.000017 0.002888 intron exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,119855.000000, 0.000008,0.999992, 734 chr21 19653332 19653333 rs115146157 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007176 0.059469 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_EXAC,HAMMER_LAB,ILLUMINA,NHLBI-ESP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 498.000000,124474.000000, 0.003985,0.996015, maf-5-some-pop 734 chr21 19653333 19653334 rs752734780 0 + T T G/T genomic single unknown 0.000017 0.002888 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,119927.000000, 0.000008,0.999992, 734 chr21 19653342 19653343 rs3215891 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 6 BUSHMAN,EVA-GONL,EVA_EXAC,EVA_GENOME_DK,GMI,HAMMER_LAB, 1 -, 2.000000, 1.000000, 734 chr21 19653342 19653344 rs544184872 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.025681 0.110367 intron range 1 MixedObserved 2 1000GENOMES,EVA_EXAC, 2 -,TT, 45.000000,3414.000000, 0.013009,0.986990, 734 chr21 19653342 19653346 rs760951919 0 + TTTT TTTT -/TTTT genomic deletion unknown 0.000032 0.003974 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,TTTT, 1.000000,63319.000000, 0.000016,0.999984, 734 chr21 19653342 19653345 rs773243728 0 + TTT TTT -/TTT genomic deletion unknown 0.000058 0.005364 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,TTT, 1.000000,34751.000000, 0.000029,0.999971, 734 chr21 19653342 19653342 rs772186919 0 + - - -/T genomic insertion unknown 0.5 0 intron between 1 MixedObserved 1 EVA_EXAC, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19653343 19653344 rs547111437 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.42326 0.180225 intron exact 1 1 1000GENOMES, 2 -,T, 1492.000000,3414.000000, 0.304117,0.695883, maf-5-some-pop,maf-5-all-pops 734 chr21 19653344 19653344 rs565696169 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.032304 0.122917 intron between 1 1 1000GENOMES, 2 -,T, 3414.000000,57.000000, 0.983578,0.016422, 734 chr21 19653353 19653354 rs397840160 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 YUSUKE, 0 734 chr21 19653354 19653354 rs766572527 0 + - - -/A genomic insertion by-frequency 0.000132 0.008128 splice-5 between 1 1 EVA_EXAC, 2 -,A, 121058.000000,8.000000, 0.999934,0.000066, 734 chr21 19653356 19653357 rs62213417 0 + C C C/T genomic single unknown 0 0 missense exact 1 1 BCMHGSC_JDW, 0 734 chr21 19653357 19653361 rs753997878 0 + TGTG TGTG -/TGTG genomic deletion unknown 0.000017 0.002873 frameshift range 1 1 EVA_EXAC, 2 -,TGTG, 1.000000,121114.000000, 0.000008,0.999992, 734 chr21 19653358 19653359 rs750700044 0 + G G A/G genomic single unknown 0 0 missense exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19653359 19653360 rs760882330 0 + T T C/T genomic single by-frequency 0.000066 0.005746 missense exact 1 1 EVA_EXAC, 2 C,T, 4.000000,121144.000000, 0.000033,0.999967, 734 chr21 19653366 19653367 rs368010116 0 + C C C/T genomic single unknown 0.000154 0.008773 coding-synon exact 1 1 NHLBI-ESP, 2 C,T, 13005.000000,1.000000, 0.999923,0.000077, 734 chr21 19653371 19653372 rs759340321 0 + T T G/T genomic single unknown 0.000016 0.002872 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,121243.000000, 0.000008,0.999992, 734 chr21 19653377 19653378 rs375957234 0 + C C C/G genomic single by-cluster,by-frequency 0.000033 0.004061 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,G, 121278.000000,2.000000, 0.999983,0.000016, 734 chr21 19653379 19653380 rs757096120 0 + A A A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 121295.000000,1.000000, 0.999992,0.000008, 734 chr21 19653398 19653399 rs369844272 0 + C C C/T genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 C,T, 13005.000000,1.000000, 0.999923,0.000077, 734 chr21 19653399 19653400 rs148756781 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000308 0.012405 coding-synon exact 1 2 1000GENOMES,NHLBI-ESP, 2 A,G, 2.000000,13004.000000, 0.000154,0.999846, 734 chr21 19653402 19653403 rs762814778 0 + G G -/G genomic deletion unknown 0.000016 0.00287 frameshift exact 1 1 EVA_EXAC, 2 -,G, 1.000000,121363.000000, 0.000008,0.999992, 734 chr21 19653405 19653406 rs765159713 0 + C C C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121367.000000,1.000000, 0.999992,0.000008, 734 chr21 19653412 19653413 rs186150928 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000099 0.00703 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126371.000000,7.000000, 0.999945,0.000055, 734 chr21 19653413 19653414 rs767258888 0 + G G A/G genomic single unknown 0.000016 0.00287 nonsense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,121373.000000, 0.000008,0.999992, 734 chr21 19653417 19653418 rs779556971 0 + A A A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121383.000000,1.000000, 0.999992,0.000008, 734 chr21 19653418 19653419 rs746499130 0 + T T A/G/T genomic single by-frequency 0.000049 0.004971 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 2.000000,1.000000,121381.000000, 0.000016,0.000008,0.999975, 734 chr21 19653425 19653426 rs752661555 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 MixedObserved 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,121391.000000, 0.000008,0.999992, 734 chr21 19653425 19653425 rs763761460 0 + - - -/GACAATTTCATCTATTAATC genomic insertion unknown 0.000016 0.00287 frameshift between 1 MixedObserved 1 EVA_EXAC, 2 -,GACAATTTCATCTATTAATC, 121391.000000,1.000000, 0.999992,0.000008, 734 chr21 19653427 19653428 rs141411206 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000132 0.008116 missense exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 G,T, 126397.000000,9.000000, 0.999929,0.000071, 734 chr21 19653432 19653433 rs771244913 0 + T T A/T genomic single by-frequency 0.000049 0.004971 coding-synon exact 1 1 EVA_EXAC, 2 A,T, 3.000000,121399.000000, 0.000025,0.999975, 734 chr21 19653438 19653439 rs774721032 0 + A A A/C genomic single by-frequency 0.000049 0.004971 missense exact 1 1 EVA_EXAC, 2 A,C, 121401.000000,3.000000, 0.999975,0.000025, 734 chr21 19653445 19653446 rs746318360 0 + T T G/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121403.000000, 0.000008,0.999992, 734 chr21 19653446 19653447 rs150834580 0 + C C A/C genomic single by-cluster,by-frequency 0.000033 0.004059 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 2.000000,121402.000000, 0.000016,0.999984, 734 chr21 19653448 19653449 rs776130106 0 + A A A/C genomic single by-frequency 0.000049 0.004971 missense exact 1 1 EVA_EXAC, 2 A,C, 121401.000000,3.000000, 0.999975,0.000025, 734 chr21 19653454 19653455 rs756065153 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 121403.000000,1.000000, 0.999992,0.000008, 734 chr21 19653455 19653456 rs121908059 0 - G G C/T genomic single unknown 0 0 nonsense exact 1 1 OMIM-CURATED-RECORDS, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 734 chr21 19653457 19653458 rs144134985 0 + G G C/G genomic single by-cluster 0.000033 0.004059 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,G, 2.000000,121402.000000, 0.000016,0.999984, 734 chr21 19653458 19653459 rs527832914 0 + G G C/G genomic single by-1000genomes 0.000016 0.00287 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 2.000000,126410.000000, 0.000016,0.999984, 734 chr21 19653459 19653460 rs755464044 0 + G G A/G genomic single unknown 0 0 coding-synon exact 1 1 EVA_DECODE, 0 734 chr21 19653460 19653461 rs146521830 0 + A A A/G genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 121403.000000,1.000000, 0.999992,0.000008, 734 chr21 19653470 19653471 rs765071885 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121397.000000, 0.000008,0.999992, 734 chr21 19653477 19653479 rs781417245 0 + CA CA -/CA genomic deletion unknown 0 0 frameshift range 1 1 EVA_DECODE, 0 734 chr21 19653485 19653486 rs139897792 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000313 0.012505 missense exact 1 6 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP,ROSENBERGLAB, 2 A,G, 126389.000000,19.000000, 0.999850,0.000150, 734 chr21 19653488 19653489 rs200483285 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00028 0.011829 missense exact 1 5 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,SSMP, 2 G,T, 19.000000,126389.000000, 0.000150,0.999850, 734 chr21 19653491 19653492 rs374368287 0 + T T C/T genomic single by-cluster,by-frequency 0.000033 0.004059 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,121394.000000, 0.000016,0.999984, 734 chr21 19653492 19653493 rs751567591 0 + A A A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121397.000000,1.000000, 0.999992,0.000008, 734 chr21 19653517 19653518 rs192018052 0 + T T A/T genomic single by-1000genomes 0 0 missense exact 1 1 1000GENOMES, 0 734 chr21 19653518 19653519 rs754418190 0 + T T G/T genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 G,T, 2.000000,121366.000000, 0.000016,0.999984, 734 chr21 19653519 19653520 rs147684105 0 + G G G/T genomic single by-1000genomes 0.000066 0.00574 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 126369.000000,5.000000, 0.999960,0.000040, 734 chr21 19653521 19653522 rs377265908 0 + A A A/T genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 121363.000000,1.000000, 0.999992,0.000008, 734 chr21 19653535 19653536 rs755779046 0 + C C C/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 C,G, 121337.000000,1.000000, 0.999992,0.000008, 734 chr21 19653544 19653544 rs751539720 0 + - - -/ATT genomic insertion by-frequency 0.000066 0.005742 intron between 1 1 EVA_EXAC, 2 -,ATT, 121302.000000,4.000000, 0.999967,0.000033, 734 chr21 19653549 19653550 rs779184545 0 + A A A/G genomic single by-frequency 0.000033 0.004061 intron exact 1 1 EVA_EXAC, 2 A,G, 121290.000000,2.000000, 0.999983,0.000016, 734 chr21 19653550 19653551 rs200321859 0 + A A A/G genomic single unknown 0.001998 0.031544 intron exact 1 NonIntegerChromCount 1 CLINSEQ_SNP, 2 A,G, 1320.680054,1.322000, 0.999000,0.001000, 734 chr21 19653552 19653555 rs757123514 0 + GAA GAA -/GAA genomic deletion by-frequency 0.000066 0.005742 intron range 1 1 EVA_EXAC, 2 -,GAA, 4.000000,121284.000000, 0.000033,0.999967, 734 chr21 19653564 19653565 rs746212748 0 + G G A/G genomic single by-frequency 0.000033 0.004061 intron exact 1 1 EVA_EXAC, 2 A,G, 2.000000,121244.000000, 0.000016,0.999983, 734 chr21 19653567 19653568 rs550288760 0 + A A A/C/G genomic single by-1000genomes 0.000016 0.002872 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 A,C,G, 126246.000000,1.000000,1.000000, 0.999984,0.000008,0.000008, 734 chr21 19653568 19653569 rs775838354 0 + C C C/T genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 121237.000000,1.000000, 0.999992,0.000008, 734 chr21 19653570 19653571 rs747591470 0 + C C C/T genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 121223.000000,1.000000, 0.999992,0.000008, 734 chr21 19653576 19653577 rs768573856 0 + C C C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 121175.000000,1.000000, 0.999992,0.000008, 734 chr21 19653577 19653578 rs776868879 0 + C C A/C genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121157.000000, 0.000008,0.999992, 734 chr21 19653581 19653582 rs762065736 0 + G G A/G genomic single by-frequency 0.000066 0.005746 intron exact 1 1 EVA_EXAC, 2 A,G, 4.000000,121132.000000, 0.000033,0.999967, 734 chr21 19653583 19653584 rs369447593 0 + A A A/G genomic single unknown 0.000154 0.008773 intron exact 1 1 NHLBI-ESP, 2 A,G, 13005.000000,1.000000, 0.999923,0.000077, 734 chr21 19653585 19653586 rs765558653 0 + T T G/T genomic single by-frequency 0.000066 0.005748 intron exact 1 1 EVA_EXAC, 2 G,T, 4.000000,121064.000000, 0.000033,0.999967, 734 chr21 19653598 19653599 rs568484243 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19653653 19653654 rs536259196 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19653679 19653680 rs748347999 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19653683 19653684 rs777262398 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19653798 19653799 rs181639459 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19653822 19653823 rs554521016 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19653867 19653868 rs753279316 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19653876 19653877 rs756774623 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19653879 19653880 rs778487231 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19653882 19653883 rs567686615 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19653891 19653892 rs573091365 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19653920 19653921 rs79552700 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.12932 0.218944 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4660.000000,348.000000, 0.930511,0.069489, maf-5-some-pop 734 chr21 19653940 19653941 rs749411455 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19653948 19653949 rs8131942 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.12932 0.218944 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 348.000000,4660.000000, 0.069489,0.930511, maf-5-some-pop 734 chr21 19653963 19653964 rs377355298 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19653985 19653986 rs544691688 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19654012 19654013 rs774331326 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19654065 19654066 rs562988235 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654071 19654072 rs370899937 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19654104 19654105 rs186779081 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19654134 19654135 rs542209090 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19654136 19654137 rs560329612 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19654142 19654143 rs780330715 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19654149 19654150 rs527974495 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19654150 19654151 rs552628950 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19654151 19654152 rs745656970 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19654173 19654174 rs564317852 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654176 19654177 rs531808004 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654184 19654185 rs369195748 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19654196 19654197 rs550225558 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19654223 19654224 rs771832174 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19654240 19654241 rs576914893 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19654272 19654273 rs191419272 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654275 19654276 rs775161508 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19654276 19654277 rs536009621 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654281 19654282 rs112897877 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.084364 0.187256 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 221.000000,4787.000000, 0.044129,0.955871, maf-5-some-pop 734 chr21 19654284 19654285 rs568283513 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 734 chr21 19654293 19654294 rs373516133 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19654307 19654308 rs183161747 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 49.000000,4959.000000, 0.009784,0.990216, 734 chr21 19654308 19654309 rs186721696 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19654310 19654311 rs559153858 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654314 19654315 rs113036589 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.123798 0.215808 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4676.000000,332.000000, 0.933706,0.066294, maf-5-some-pop 734 chr21 19654319 19654320 rs112900059 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.082906 0.185956 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4791.000000,217.000000, 0.956669,0.043331, maf-5-some-pop 734 chr21 19654338 19654339 rs537002918 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19654343 19654344 rs574870952 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654345 19654346 rs189952760 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 734 chr21 19654347 19654348 rs560520027 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654380 19654381 rs867076289 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19654384 19654385 rs370072438 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19654391 19654392 rs546059721 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654392 19654393 rs564454135 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19654397 19654398 rs531749180 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19654401 19654402 rs543607760 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19654408 19654409 rs182362505 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 734 chr21 19654417 19654418 rs373634919 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 GMI,SSIP,WEILL_CORNELL_DGM, 0 734 chr21 19654442 19654444 rs370897201 0 + GT GT -/GT genomic deletion unknown 0 0 intron range 1 1 BILGI_BIOE, 0 734 chr21 19654554 19654555 rs73320141 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.090169 0.192235 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4771.000000,237.000000, 0.952676,0.047324, maf-5-some-pop 734 chr21 19654559 19654560 rs773454481 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19654572 19654573 rs529780373 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654574 19654575 rs140905108 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19654594 19654595 rs150165852 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19654668 19654669 rs146673540 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19654729 19654730 rs763136709 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19654743 19654744 rs187748286 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19654797 19654798 rs1023126 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.322959 0.239117 intron exact 1 35 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,C, 3994.000000,1014.000000, 0.797524,0.202476, maf-5-some-pop,genotype-conflict 734 chr21 19654827 19654828 rs755457094 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19654884 19654885 rs543846586 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19654895 19654896 rs112991136 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 8 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 734 chr21 19654898 19654899 rs556381344 0 + G G C/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19654903 19654904 rs568193772 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19654904 19654905 rs532598490 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19654910 19654911 rs140227163 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19654916 19654917 rs570202213 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19654926 19654927 rs145363469 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19654953 19654954 rs759462734 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19654964 19654965 rs35008192 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.131038 0.219882 intron exact 1 MixedObserved 11 1000GENOMES,ABI,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4655.000000,353.000000, 0.929513,0.070487, maf-5-some-pop 734 chr21 19654964 19654967 rs386816746 0 + CAC CAC CAC/GAT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 734 chr21 19654966 19654967 rs34247769 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.131038 0.219882 intron exact 1 11 1000GENOMES,ABI,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4655.000000,353.000000, 0.929513,0.070487, maf-5-some-pop 734 chr21 19654995 19654996 rs539193673 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19655007 19655008 rs552844578 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19655012 19655013 rs113955368 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 734 chr21 19655016 19655017 rs60152541 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.084728 0.187577 intron exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 222.000000,4786.000000, 0.044329,0.955671, maf-5-some-pop 734 chr21 19655050 19655051 rs1023127 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.485731 0.083251 intron exact 1 35 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 2081.000000,2927.000000, 0.415535,0.584465, maf-5-some-pop,maf-5-all-pops 734 chr21 19655057 19655058 rs149616088 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19655078 19655079 rs57412067 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 214.000000,4794.000000, 0.042732,0.957268, maf-5-some-pop 734 chr21 19655085 19655085 rs752446150 0 + - - -/ATC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655096 19655097 rs552197279 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 734 chr21 19655128 19655129 rs748709124 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655153 19655154 rs570501652 0 + C C A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19655158 19655159 rs193105827 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19655167 19655168 rs376021149 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 734 chr21 19655202 19655203 rs11911916 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.024454 0.107838 intron exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB, 2 A,C, 4946.000000,62.000000, 0.987620,0.012380, 734 chr21 19655216 19655217 rs568217658 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19655227 19655227 rs528292005 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19655240 19655241 rs745746965 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19655242 19655243 rs769974067 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655246 19655247 rs9976109 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WUGSC_SSAHASNP, 2 G,T, 52.000000,4956.000000, 0.010383,0.989617, 734 chr21 19655254 19655255 rs749522688 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655295 19655296 rs372618680 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19655304 19655305 rs760751055 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 734 chr21 19655305 19655306 rs770993917 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655325 19655326 rs143321440 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 734 chr21 19655327 19655328 rs377213089 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19655356 19655357 rs556954737 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655386 19655387 rs61592779 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.090531 0.192535 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4770.000000,238.000000, 0.952476,0.047524, maf-5-some-pop 734 chr21 19655457 19655458 rs539587153 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19655479 19655480 rs557716613 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19655487 19655488 rs113163353 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19655521 19655522 rs77338691 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4974.000000,34.000000, 0.993211,0.006789, 734 chr21 19655557 19655560 rs768329940 0 + CTT CTT -/CTT genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655626 19655627 rs549603065 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19655675 19655676 rs553124261 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19655680 19655681 rs67719775 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 12 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 1 -, 2.000000, 1.000000, 734 chr21 19655680 19655681 rs77456819 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 BGI, 0 734 chr21 19655680 19655682 rs571578526 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.219051 0.248077 intron range 1 MixedObserved 2 1000GENOMES,HAMMER_LAB, 2 -,TT, 234.000000,1635.000000, 0.125201,0.874799, maf-5-some-pop 734 chr21 19655681 19655682 rs556971722 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.450375 0.149499 intron exact 1 1 1000GENOMES, 2 -,T, 3139.000000,1635.000000, 0.657520,0.342480, maf-5-some-pop,maf-5-all-pops 734 chr21 19655688 19655690 rs552682737 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 734 chr21 19655689 19655690 rs35326743 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 734 chr21 19655705 19655706 rs375962150 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19655709 19655710 rs572641054 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655718 19655719 rs776481734 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19655739 19655745 rs761564860 0 + TTACAA TTACAA -/TTACAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19655753 19655754 rs764788914 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655755 19655756 rs13052044 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.372794 0.217765 intron exact 1 25 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1241.000000,3767.000000, 0.247804,0.752196, maf-5-some-pop,genotype-conflict 734 chr21 19655794 19655795 rs555300044 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19655803 19655804 rs59799920 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.087635 0.190099 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4778.000000,230.000000, 0.954073,0.045927, maf-5-some-pop 734 chr21 19655822 19655823 rs185092697 0 + C C A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655826 19655827 rs755365975 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19655832 19655833 rs541270574 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19655893 19655894 rs375474696 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19655903 19655904 rs369589592 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 734 chr21 19655928 19655929 rs115765948 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19655952 19655953 rs373204383 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19655964 19655965 rs564046010 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19655998 19655999 rs8132055 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.433818 0.169443 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3415.000000,1593.000000, 0.681909,0.318091, maf-5-some-pop 734 chr21 19656053 19656054 rs73320155 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.087997 0.190408 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4777.000000,231.000000, 0.953874,0.046126, maf-5-some-pop 734 chr21 19656124 19656125 rs561842555 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656170 19656171 rs8128746 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.430583 0.172886 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 3437.000000,1571.000000, 0.686302,0.313698, maf-5-some-pop,maf-5-all-pops 734 chr21 19656176 19656177 rs778349021 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19656178 19656179 rs547266724 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656184 19656185 rs376988446 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 734 chr21 19656185 19656186 rs188559914 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19656192 19656193 rs192883145 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 734 chr21 19656194 19656195 rs569683231 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19656214 19656215 rs73208533 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19656221 19656222 rs148349292 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 734 chr21 19656240 19656241 rs574250144 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19656265 19656266 rs75423904 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 734 chr21 19656266 19656267 rs66480111 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.132409 0.220618 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4651.000000,357.000000, 0.928714,0.071286, maf-5-some-pop 734 chr21 19656279 19656280 rs75950953 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 734 chr21 19656286 19656287 rs545884803 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19656288 19656289 rs564185307 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19656289 19656290 rs576064797 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19656291 19656292 rs543053503 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19656296 19656297 rs73320160 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.085456 0.188216 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 224.000000,4784.000000, 0.044728,0.955272, maf-5-some-pop 734 chr21 19656335 19656336 rs58213819 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 3 1000GENOMES,HGSV,JMKIDD_LAB, 2 A,C, 33.000000,4975.000000, 0.006589,0.993411, 734 chr21 19656360 19656361 rs547698385 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19656404 19656405 rs559094842 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656437 19656438 rs768416983 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19656445 19656446 rs867026616 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19656464 19656465 rs377594475 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19656468 19656469 rs532977360 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19656473 19656474 rs141602486 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 61.000000,4947.000000, 0.012180,0.987819, maf-5-some-pop 734 chr21 19656506 19656507 rs573018293 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19656508 19656509 rs530789645 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19656546 19656547 rs761730964 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19656566 19656567 rs867420874 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19656681 19656682 rs537601962 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656717 19656718 rs757481631 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19656736 19656737 rs188635805 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19656750 19656751 rs558703523 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19656760 19656761 rs59154982 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 5 1000GENOMES,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4953.000000,55.000000, 0.989018,0.010982, maf-5-some-pop 734 chr21 19656809 19656810 rs368511365 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19656823 19656824 rs578191576 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656835 19656836 rs67895516 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.132066 0.220435 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 356.000000,4652.000000, 0.071086,0.928914, maf-5-some-pop 734 chr21 19656840 19656841 rs557838982 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 734 chr21 19656850 19656851 rs576201165 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656861 19656862 rs73893049 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.416055 0.186885 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3530.000000,1478.000000, 0.704872,0.295128, maf-5-some-pop,maf-5-all-pops 734 chr21 19656866 19656867 rs762318384 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19656899 19656900 rs572339308 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19656904 19656905 rs555042804 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656929 19656930 rs765957292 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19656951 19656952 rs180723147 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19656954 19656955 rs367774297 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19656967 19656968 rs559234634 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19656969 19656970 rs546701555 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19656992 19656993 rs371611108 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19657013 19657014 rs374921251 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19657013 19657013 rs34738152 0 + - - -/C genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 734 chr21 19657022 19657023 rs28473094 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,TISHKOFF, 2 A,T, 47.000000,4961.000000, 0.009385,0.990615, 734 chr21 19657036 19657037 rs759323740 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657043 19657044 rs530890728 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19657075 19657076 rs139885597 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 734 chr21 19657082 19657083 rs183656975 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 734 chr21 19657115 19657116 rs190453936 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 734 chr21 19657121 19657122 rs547273322 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19657132 19657133 rs182342899 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19657145 19657146 rs539387477 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19657178 19657179 rs560920122 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19657182 19657182 rs35794591 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 734 chr21 19657189 19657190 rs756514741 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657251 19657252 rs535221380 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19657260 19657261 rs375184312 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19657280 19657281 rs778095089 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657293 19657294 rs147272839 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19657296 19657297 rs754401231 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657314 19657315 rs62213418 0 + C C A/C genomic single unknown 0.5 0 intron exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 734 chr21 19657317 19657318 rs113014415 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.477853 0.102875 intron exact 1 MixedObserved 9 1000GENOMES,BL,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP, 2 -,A, 3031.000000,1977.000000, 0.605232,0.394768, maf-5-some-pop,maf-5-all-pops 734 chr21 19657317 19657318 rs757252283 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657328 19657328 rs201728874 0 + - - -/G genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 734 chr21 19657329 19657330 rs746804502 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA_DECODE, 0 734 chr21 19657329 19657330 rs750921432 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657333 19657334 rs73320164 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.132066 0.220435 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4652.000000,356.000000, 0.928914,0.071086, maf-5-some-pop 734 chr21 19657338 19657340 rs373331064 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19657357 19657359 rs768399892 0 + TG TG -/TG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 734 chr21 19657359 19657360 rs781151794 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 734 chr21 19657382 19657383 rs75393684 0 + A A A/C genomic single by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 1 1000GENOMES, 2 A,C, 4975.000000,33.000000, 0.993411,0.006589, 734 chr21 19657401 19657402 rs369753627 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19657415 19657416 rs746076827 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657430 19657431 rs139733139 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19657441 19657442 rs149795713 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19657512 19657513 rs145036522 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19657532 19657533 rs552599249 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19657577 19657578 rs148658532 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 38.000000,4970.000000, 0.007588,0.992412, 734 chr21 19657599 19657600 rs866645347 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19657602 19657603 rs780256043 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657660 19657661 rs66499720 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.132066 0.220435 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4652.000000,356.000000, 0.928914,0.071086, maf-5-some-pop 734 chr21 19657705 19657706 rs528706769 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 734 chr21 19657731 19657732 rs557386587 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657745 19657746 rs186940621 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19657778 19657779 rs552036608 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19657793 19657794 rs117875843 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,C, 29.000000,4979.000000, 0.005791,0.994209, maf-5-some-pop 734 chr21 19657801 19657802 rs142238892 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19657812 19657813 rs561442636 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19657818 19657819 rs770337820 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657846 19657847 rs146745790 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19657849 19657850 rs774075960 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19657901 19657902 rs369103790 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 734 chr21 19657924 19657925 rs762420662 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19657927 19657928 rs547014005 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19657964 19657965 rs530811303 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19657983 19657984 rs191717703 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19657984 19657985 rs550563072 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19658026 19658027 rs75371430 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 734 chr21 19658055 19658056 rs767221184 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658058 19658059 rs532833481 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19658068 19658069 rs752423289 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658072 19658073 rs551318316 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19658080 19658081 rs569318592 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658081 19658082 rs536863743 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658090 19658091 rs145193126 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19658121 19658122 rs567352757 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19658122 19658123 rs534455283 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19658151 19658152 rs772620813 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19658159 19658160 rs11909758 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.330482 0.236691 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3962.000000,1046.000000, 0.791134,0.208866, maf-5-some-pop,maf-5-all-pops 734 chr21 19658167 19658168 rs764559094 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658192 19658193 rs559414876 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658194 19658195 rs536360755 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19658199 19658201 rs377534219 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 734 chr21 19658240 19658241 rs9980111 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.472335 0.114312 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1915.000000,3093.000000, 0.382388,0.617612, maf-5-some-pop,maf-5-all-pops 734 chr21 19658248 19658249 rs181174042 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19658249 19658250 rs377018031 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19658283 19658284 rs557235848 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658318 19658319 rs575303996 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19658323 19658324 rs541926937 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19658325 19658326 rs566633763 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19658375 19658376 rs146457347 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19658432 19658433 rs140799078 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 734 chr21 19658461 19658462 rs573278895 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658508 19658509 rs540764985 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19658518 19658519 rs534922698 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19658530 19658531 rs565252262 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 734 chr21 19658562 19658563 rs780376892 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658567 19658568 rs532566337 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19658568 19658569 rs116946789 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 734 chr21 19658575 19658576 rs563200349 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658595 19658596 rs530375108 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658644 19658645 rs78129836 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.10237 0.201756 intron exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4737.000000,271.000000, 0.945887,0.054113, maf-5-some-pop 734 chr21 19658704 19658705 rs550815226 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658717 19658718 rs1155077 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.353154 0.227726 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 3861.000000,1147.000000, 0.770966,0.229034, maf-5-some-pop,genotype-conflict 734 chr21 19658723 19658724 rs534395333 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19658776 19658777 rs747260365 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658789 19658790 rs377550743 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 734 chr21 19658796 19658797 rs755843869 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658812 19658813 rs73320169 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.085819 0.188533 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 225.000000,4783.000000, 0.044928,0.955072, maf-5-some-pop 734 chr21 19658884 19658885 rs749182680 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19658894 19658895 rs112565725 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 734 chr21 19658905 19658906 rs150114197 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658914 19658915 rs73893051 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.054725 0.156101 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 141.000000,4867.000000, 0.028155,0.971845, maf-5-some-pop 734 chr21 19658960 19658961 rs575490508 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19658972 19658973 rs12627091 0 + T T G/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 CSHL-HAPMAP, 1 T, 420.000000, 1.000000, 734 chr21 19658996 19658997 rs536192933 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659014 19659015 rs371018995 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659073 19659074 rs7279594 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.334412 0.235318 intron exact 1 20 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3945.000000,1063.000000, 0.787740,0.212260, maf-5-some-pop 734 chr21 19659120 19659121 rs540696384 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659121 19659122 rs190298433 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659148 19659149 rs368802722 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 734 chr21 19659162 19659163 rs577263549 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659216 19659217 rs771741035 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659218 19659219 rs182119235 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659243 19659244 rs73208544 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.068931 0.172377 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4829.000000,179.000000, 0.964257,0.035743, maf-5-some-pop 734 chr21 19659249 19659250 rs530406859 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659260 19659261 rs548632894 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659268 19659269 rs574558433 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19659320 19659321 rs187600993 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659342 19659343 rs527892738 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659343 19659344 rs546247021 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659383 19659384 rs758462550 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19659395 19659396 rs777120614 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659398 19659399 rs762087691 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659404 19659405 rs192277935 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659445 19659446 rs765671665 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659452 19659453 rs117680236 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.04411 0.141807 intron exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 113.000000,4895.000000, 0.022564,0.977436, maf-5-some-pop 734 chr21 19659492 19659493 rs184063338 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659502 19659505 rs549123598 0 + CTC CTC -/CTC genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 734 chr21 19659527 19659528 rs188576171 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659540 19659541 rs73893052 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 142.000000,4866.000000, 0.028355,0.971645, maf-5-some-pop 734 chr21 19659553 19659554 rs554584020 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659593 19659594 rs751397095 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19659594 19659595 rs751720293 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659604 19659605 rs566630847 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659606 19659607 rs867033958 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19659620 19659621 rs138908136 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, maf-5-some-pop 734 chr21 19659638 19659639 rs568607156 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19659654 19659655 rs192848220 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659655 19659656 rs149394046 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 734 chr21 19659656 19659657 rs537283850 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19659659 19659660 rs544416085 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19659702 19659703 rs556501163 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659704 19659705 rs755298869 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659763 19659764 rs74648159 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 65.000000,4943.000000, 0.012979,0.987021, maf-5-some-pop 734 chr21 19659775 19659776 rs373840539 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 734 chr21 19659776 19659777 rs560420694 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659785 19659786 rs527832215 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19659866 19659867 rs866436271 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 734 chr21 19659877 19659878 rs749054989 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659878 19659879 rs573377096 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19659880 19659881 rs545323724 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19659916 19659917 rs545982241 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19659917 19659918 rs555217573 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 734 chr21 19659930 19659931 rs757140962 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659943 19659944 rs7283398 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.368529 0.220116 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3788.000000,1220.000000, 0.756390,0.243610, maf-5-some-pop,maf-5-all-pops 734 chr21 19659996 19659997 rs745842282 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19659998 19659999 rs532062613 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19660052 19660053 rs7283555 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.368733 0.220005 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3787.000000,1221.000000, 0.756190,0.243810, maf-5-some-pop 734 chr21 19660078 19660079 rs568801639 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19660103 19660103 rs747352878 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19660116 19660117 rs529666939 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19660121 19660122 rs59095520 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 734 chr21 19660123 19660124 rs548418630 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19660202 19660203 rs184395196 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA_DECODE, 0 734 chr21 19660204 19660205 rs186864312 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 734 chr21 19660205 19660206 rs7283748 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.442385 0.15965 intron exact 1 28 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1654.000000,3354.000000, 0.330272,0.669728, maf-5-some-pop,genotype-conflict 734 chr21 19660212 19660213 rs560966192 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 734 chr21 19660237 19660238 rs534124192 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19660257 19660258 rs746636198 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19660277 19660278 rs768287028 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19660286 19660287 rs7279538 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.368119 0.220336 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3790.000000,1218.000000, 0.756789,0.243211, maf-5-some-pop,maf-5-all-pops 734 chr21 19660365 19660366 rs572903777 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 734 chr21 19660386 19660387 rs762184609 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19660388 19660389 rs547052200 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19660403 19660404 rs765618618 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19660405 19660406 rs538311616 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19660436 19660437 rs201603769 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 734 chr21 19660487 19660488 rs556395116 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 734 chr21 19660490 19660491 rs574732924 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19660495 19660496 rs541858870 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19660559 19660560 rs553794314 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19660584 19660585 rs763511954 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19660598 19660599 rs572393254 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19660600 19660601 rs546121149 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19660602 19660603 rs372096595 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 734 chr21 19660630 19660631 rs74521831 0 + T T A/T genomic single by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 1 1000GENOMES, 2 A,T, 49.000000,4959.000000, 0.009784,0.990216, maf-5-some-pop 734 chr21 19660637 19660638 rs531832078 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19660641 19660642 rs147119055 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 734 chr21 19660652 19660653 rs562446934 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 734 chr21 19660653 19660654 rs529845483 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19660660 19660661 rs547869484 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 734 chr21 19660664 19660665 rs770282366 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 734 chr21 19660686 19660687 rs59779514 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HGSV, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 734 chr21 19660717 19660718 rs191701993 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 734 chr21 19660721 19660722 rs376673863 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 734 chr21 19660728 19660728 rs781410157 0 + - - -/C genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 734 chr21 19660738 19660739 rs10222194 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.367708 0.220556 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3792.000000,1216.000000, 0.757188,0.242812, maf-5-some-pop,maf-5-all-pops 734 chr21 19660764 19660765 rs143840664 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19660813 19660814 rs550199326 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19660840 19660841 rs568457186 0 + C C C/T genomic single by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 1 1000GENOMES, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, 735 chr21 19660845 19660847 rs149147539 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 2 BL,EVA_GENOME_DK, 0 735 chr21 19660867 19660868 rs10222065 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.454302 0.144085 intron exact 1 4 1000GENOMES,BL,GMI,WUGSC_SSAHASNP, 2 G,T, 3261.000000,1747.000000, 0.651158,0.348842, maf-5-some-pop,maf-5-all-pops 735 chr21 19660867 19660870 rs796222751 0 + TTT TTT GTA/TTT genomic mnp unknown 0 0 intron rangeSubstitution 1 FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 735 chr21 19660868 19660868 rs368411632 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 BILGI_BIOE,SSIP, 0 735 chr21 19660869 19660870 rs144548760 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.454302 0.144085 intron exact 1 4 1000GENOMES,BL,GMI,WEILL_CORNELL_DGM, 2 A,T, 3261.000000,1747.000000, 0.651158,0.348842, maf-5-some-pop,maf-5-all-pops 735 chr21 19660870 19660870 rs377022765 0 + - - -/GTA genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 735 chr21 19660874 19660875 rs10222066 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.366679 0.221102 intron exact 1 13 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,ILLUMINA-UK,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3797.000000,1211.000000, 0.758187,0.241813, maf-5-some-pop,maf-5-all-pops 735 chr21 19660888 19660889 rs10222190 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.455024 0.143057 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1753.000000,3255.000000, 0.350040,0.649960, maf-5-some-pop,maf-5-all-pops 735 chr21 19660893 19660894 rs558039936 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19660981 19660982 rs11702698 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.482459 0.091993 intron exact 1 MixedObserved 11 1000GENOMES,ABI,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2973.000000,2035.000000, 0.593650,0.406350, maf-5-some-pop,maf-5-all-pops 735 chr21 19660981 19660984 rs386816747 0 + CGA CGA CGA/TGT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19660983 19660984 rs10222198 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.367503 0.220665 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 1215.000000,3793.000000, 0.242612,0.757388, maf-5-some-pop,maf-5-all-pops 735 chr21 19660992 19660993 rs562348504 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19661002 19661003 rs113655371 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19661043 19661044 rs541976668 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19661048 19661049 rs560164933 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19661086 19661087 rs10222197 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.371785 0.218331 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 1236.000000,3772.000000, 0.246805,0.753195, maf-5-some-pop,maf-5-all-pops 735 chr21 19661088 19661089 rs549048926 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19661095 19661096 rs11702545 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.482534 0.091804 intron exact 1 16 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2036.000000,2972.000000, 0.406550,0.593450, maf-5-some-pop,maf-5-all-pops 735 chr21 19661099 19661100 rs183621312 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19661103 19661104 rs564224464 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19661121 19661122 rs371135296 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19661151 19661152 rs575035152 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19661174 19661175 rs779860594 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19661186 19661187 rs549698577 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19661231 19661232 rs141483815 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19661238 19661239 rs189345595 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19661261 19661262 rs763238044 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19661278 19661279 rs10222071 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.370772 0.218893 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1231.000000,3777.000000, 0.245807,0.754193, maf-5-some-pop,maf-5-all-pops 735 chr21 19661310 19661311 rs539695781 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19661322 19661323 rs10222073 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.370568 0.219005 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1230.000000,3778.000000, 0.245607,0.754393, maf-5-some-pop,maf-5-all-pops 735 chr21 19661340 19661341 rs182309862 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19661359 19661360 rs539452192 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19661380 19661381 rs28436100 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.328616 0.237317 intron exact 1 18 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1038.000000,3970.000000, 0.207268,0.792732, maf-5-some-pop 735 chr21 19661418 19661419 rs11700830 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.371987 0.218218 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1237.000000,3771.000000, 0.247005,0.752995, maf-5-some-pop,maf-5-all-pops 735 chr21 19661440 19661441 rs543760323 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19661465 19661466 rs555662226 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19661466 19661467 rs185653451 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19661489 19661490 rs866990105 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19661499 19661500 rs541915416 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19661502 19661503 rs190716512 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19661506 19661507 rs150846836 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19661551 19661552 rs114810003 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 735 chr21 19661604 19661605 rs139578116 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19661610 19661611 rs771373666 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19661618 19661619 rs531489210 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19661620 19661621 rs563715234 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19661632 19661633 rs181485342 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19661655 19661656 rs8127478 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.453331 0.145452 intron exact 1 MixedObserved 15 1000GENOMES,ABI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 3269.000000,1739.000000, 0.652756,0.347244, maf-5-some-pop,maf-5-all-pops 735 chr21 19661655 19661658 rs386816748 0 + CCC CCC CCC/GCT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19661657 19661658 rs8127480 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.371177 0.218669 intron exact 1 18 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1233.000000,3775.000000, 0.246206,0.753794, maf-5-some-pop,maf-5-all-pops 735 chr21 19661671 19661672 rs113259845 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 735 chr21 19661673 19661674 rs547440264 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19661679 19661680 rs8126494 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.352938 0.227824 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 1146.000000,3862.000000, 0.228834,0.771166, maf-5-some-pop,maf-5-all-pops 735 chr21 19661685 19661686 rs372432351 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19661695 19661696 rs866441818 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19661742 19661743 rs577935282 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19661752 19661753 rs144145895 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 6 1000GENOMES,EVA-GONL,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4814.000000,194.000000, 0.961262,0.038738, maf-5-some-pop 735 chr21 19661753 19661754 rs8126607 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.450483 0.149354 intron exact 1 14 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 1716.000000,3292.000000, 0.342652,0.657348, maf-5-some-pop,maf-5-all-pops 735 chr21 19661759 19661760 rs372764735 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19661760 19661761 rs8126615 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.374 0.217081 intron exact 1 16 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3761.000000,1247.000000, 0.750998,0.249002, maf-5-some-pop,maf-5-all-pops 735 chr21 19661769 19661770 rs8128177 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.373196 0.217538 intron exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1243.000000,3765.000000, 0.248203,0.751797, maf-5-some-pop,maf-5-all-pops 735 chr21 19661775 19661776 rs562592405 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19661782 19661783 rs8127654 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.373196 0.217538 intron exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1243.000000,3765.000000, 0.248203,0.751797, maf-5-some-pop,maf-5-all-pops 735 chr21 19661871 19661872 rs6517803 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.375399 0.216275 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3754.000000,1254.000000, 0.749601,0.250399, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19661885 19661886 rs867771090 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19661902 19661903 rs79778365 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 735 chr21 19661924 19661925 rs865857144 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19661945 19661946 rs545956576 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19661973 19661974 rs373506211 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19661975 19661976 rs371061524 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19662007 19662008 rs761033607 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19662043 19662044 rs778246206 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19662057 19662058 rs76010767 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 735 chr21 19662060 19662061 rs577415135 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19662061 19662062 rs543318946 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19662064 19662065 rs186126142 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19662100 19662101 rs576867504 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19662111 19662112 rs35335139 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.280785 0.248097 intron exact 1 DuplicateObserved 12 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 846.000000,4162.000000, 0.168930,0.831070, maf-5-some-pop 735 chr21 19662111 19662111 rs759385428 0 + - - -/C genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 735 chr21 19662118 19662119 rs6517804 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.370974 0.218781 intron exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 3776.000000,1232.000000, 0.753994,0.246006, maf-5-some-pop 735 chr21 19662163 19662164 rs558899271 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19662173 19662174 rs559156412 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19662184 19662185 rs533229067 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19662224 19662225 rs535837785 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19662245 19662246 rs569914553 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19662250 19662251 rs867056581 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19662252 19662253 rs140551663 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4958.000000,50.000000, 0.990016,0.009984, 735 chr21 19662270 19662271 rs549361751 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19662317 19662318 rs6517805 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.371582 0.218444 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 3773.000000,1235.000000, 0.753395,0.246605, maf-5-some-pop,maf-5-all-pops 735 chr21 19662354 19662355 rs78713362 0 + A A A/T genomic single by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 1 1000GENOMES, 2 A,T, 4968.000000,40.000000, 0.992013,0.007987, 735 chr21 19662374 19662375 rs754476760 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19662406 19662407 rs115951228 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4921.000000,87.000000, 0.982628,0.017372, maf-5-some-pop 735 chr21 19662418 19662419 rs188486596 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19662423 19662424 rs537926512 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19662435 19662436 rs539512985 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19662503 19662504 rs2144205 0 - G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.372189 0.218105 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 1238.000000,3770.000000, 0.247204,0.752796, maf-5-some-pop,maf-5-all-pops 735 chr21 19662521 19662522 rs575907714 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19662532 19662533 rs777420104 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19662559 19662560 rs543402543 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19662651 19662652 rs2144204 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.445724 0.155538 intron exact 1 21 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1679.000000,3329.000000, 0.335264,0.664736, maf-5-some-pop,genotype-conflict 735 chr21 19662663 19662673 rs71821887 0 + TAAATAGAAA TAAATAGAAA -/TAAATAGAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.371987 0.218218 intron range 1 DuplicateObserved 12 1000GENOMES,BILGI_BIOE,BUSHMAN,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,TISHKOFF, 2 -,TAAATAGAAA, 3771.000000,1237.000000, 0.752995,0.247005, maf-5-some-pop,maf-5-all-pops 735 chr21 19662663 19662663 rs767546079 0 + - - -/TAAATAGAAA genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 735 chr21 19662665 19662675 rs199881714 0 + AATAGAAATA AATAGAAATA -/AATAGAAATA genomic deletion by-cluster 0 0 intron range 1 2 GMI,TISHKOFF, 0 735 chr21 19662666 19662676 rs11277295 0 + ATAGAAATAA ATAGAAATAA -/ATAGAAATAA genomic deletion by-cluster 0 0 intron range 1 MixedObserved,SingleAlleleFreq 4 HGSV,HUMANGENOME_JCVI,PJP,TISHKOFF, 1 -, 2.000000, 1.000000, 735 chr21 19662666 19662667 rs369165245 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19662667 19662668 rs373237451 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19662671 19662672 rs200981385 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19662672 19662673 rs201764610 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 2 GMI,ILLUMINA, 0 735 chr21 19662710 19662711 rs573581864 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19662726 19662727 rs181425688 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19662732 19662733 rs749609916 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19662818 19662819 rs113258707 0 + T T -/T genomic deletion unknown 0.5 0 intron exact 1 DuplicateObserved 1 BUSHMAN, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19662818 19662818 rs771577811 0 + - - -/T genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 EVA_GENOME_DK, 0 735 chr21 19662900 19662901 rs73210223 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4838.000000,170.000000, 0.966054,0.033946, maf-5-some-pop 735 chr21 19663026 19663027 rs763257669 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19663052 19663053 rs577429434 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663052 19663052 rs34158404 0 + - - -/C genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 735 chr21 19663053 19663054 rs545129169 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663072 19663073 rs554107610 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19663084 19663085 rs774891270 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19663091 19663092 rs186046294 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19663104 19663105 rs530957230 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663141 19663142 rs190893152 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19663154 19663155 rs3838063 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.372995 0.217651 intron exact 1 15 1000GENOMES,ABI,BGI,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,A, 3766.000000,1242.000000, 0.751997,0.248003, maf-5-some-pop,maf-5-all-pops 735 chr21 19663161 19663162 rs397841320 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 DuplicateObserved 2 HGSV,YUSUKE, 0 735 chr21 19663161 19663162 rs869214416 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 735 chr21 19663166 19663167 rs182938385 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663183 19663184 rs775497238 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19663202 19663203 rs147077302 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663216 19663217 rs760840649 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19663251 19663252 rs3787580 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.373196 0.217538 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 1243.000000,3765.000000, 0.248203,0.751797, maf-5-some-pop,maf-5-all-pops 735 chr21 19663311 19663312 rs571836901 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663339 19663340 rs539232049 0 + A A A/C/G genomic single by-frequency,by-1000genomes 0.003191 0.039832 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 5000.000000,6.000000,2.000000, 0.998403,0.001198,0.000399, 735 chr21 19663352 19663353 rs7281295 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.486332 0.08153 intron exact 1 20 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2090.000000,2918.000000, 0.417332,0.582668, maf-5-some-pop,maf-5-all-pops 735 chr21 19663420 19663421 rs544741854 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,JMKIDD_LAB, 0 735 chr21 19663422 19663423 rs187055605 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663423 19663424 rs7277468 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.356597 0.226135 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1163.000000,3845.000000, 0.232228,0.767772, maf-5-some-pop,maf-5-all-pops 735 chr21 19663436 19663437 rs573321760 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663486 19663487 rs7275997 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.357238 0.225832 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3842.000000,1166.000000, 0.767173,0.232827, maf-5-some-pop,maf-5-all-pops 735 chr21 19663500 19663501 rs562652669 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663501 19663502 rs377285003 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663506 19663507 rs545182668 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663520 19663521 rs190932414 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19663534 19663535 rs575680747 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663550 19663551 rs138469689 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19663562 19663563 rs7277215 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.486067 0.082295 intron exact 1 25 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2922.000000,2086.000000, 0.583466,0.416534, maf-5-some-pop 735 chr21 19663585 19663586 rs560404287 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19663588 19663589 rs753697777 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19663606 19663607 rs528512926 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663646 19663647 rs547275353 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663662 19663663 rs7276303 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.357451 0.225731 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3841.000000,1167.000000, 0.766973,0.233027, maf-5-some-pop,maf-5-all-pops 735 chr21 19663677 19663678 rs142667315 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663680 19663681 rs752148994 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19663688 19663689 rs116692137 0 + C C A/C genomic single by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 1 1000GENOMES, 2 A,C, 40.000000,4968.000000, 0.007987,0.992013, 735 chr21 19663695 19663696 rs546349954 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19663696 19663697 rs549674747 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19663726 19663726 rs775454928 0 + - - -/ACTT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19663731 19663732 rs182727675 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663741 19663742 rs755648327 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19663817 19663818 rs7281938 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.090169 0.192235 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4771.000000,237.000000, 0.952676,0.047324, maf-5-some-pop 735 chr21 19663819 19663820 rs548681813 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19663823 19663824 rs7276475 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.357238 0.225832 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3842.000000,1166.000000, 0.767173,0.232827, maf-5-some-pop,maf-5-all-pops 735 chr21 19663893 19663894 rs374961054 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19663946 19663947 rs369512228 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19663950 19663951 rs552593419 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19663962 19663963 rs7282215 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.452227 0.146984 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1730.000000,3278.000000, 0.345447,0.654553, maf-5-some-pop 735 chr21 19664005 19664006 rs538592953 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664012 19664013 rs557098921 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664033 19664034 rs754032473 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 4 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19664069 19664070 rs11342942 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.359152 0.224913 intron exact 1 MixedObserved 15 1000GENOMES,ABI,BILGI_BIOE,BL,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,A, 3833.000000,1175.000000, 0.765375,0.234625, maf-5-some-pop,maf-5-all-pops 735 chr21 19664069 19664070 rs575372642 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664075 19664076 rs868033700 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19664078 19664079 rs796223035 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19664082 19664083 rs543111202 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19664087 19664088 rs187536529 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19664094 19664095 rs772391410 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664100 19664101 rs74945807 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,G, 49.000000,4959.000000, 0.009784,0.990216, maf-5-some-pop 735 chr21 19664112 19664113 rs7278018 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.450231 0.149691 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3294.000000,1714.000000, 0.657748,0.342252, maf-5-some-pop 735 chr21 19664134 19664135 rs146898162 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19664161 19664162 rs573780298 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19664233 19664234 rs115328033 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19664281 19664282 rs536126838 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19664301 19664302 rs556435278 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664331 19664332 rs561745884 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 735 chr21 19664335 19664336 rs768884769 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664364 19664365 rs726490 0 - C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.357024 0.225933 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3843.000000,1165.000000, 0.767372,0.232628, maf-5-some-pop,maf-5-all-pops 735 chr21 19664381 19664382 rs544600515 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664383 19664384 rs761987362 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664393 19664394 rs726489 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.356811 0.226034 intron exact 1 29 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3844.000000,1164.000000, 0.767572,0.232428, maf-5-some-pop,maf-5-all-pops 735 chr21 19664395 19664396 rs530239875 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664406 19664407 rs548620037 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664416 19664417 rs138739609 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19664436 19664437 rs528209096 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19664441 19664442 rs564635018 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19664443 19664444 rs759391633 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664490 19664491 rs571848873 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19664492 19664493 rs149341578 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19664495 19664496 rs749715487 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19664502 19664503 rs767312182 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664506 19664507 rs752666449 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664547 19664548 rs112413740 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19664566 19664567 rs144744632 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19664579 19664580 rs755591126 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664585 19664586 rs191651467 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664622 19664623 rs763644143 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664649 19664650 rs556992492 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19664654 19664655 rs148101418 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19664666 19664667 rs753478018 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664756 19664757 rs997089 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,ABI,SC_JCM,TISHKOFF,TSC-CSHL, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19664773 19664774 rs756929376 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19664791 19664792 rs554851907 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19664832 19664833 rs373208027 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19664909 19664910 rs76179888 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 62.000000,4946.000000, 0.012380,0.987620, 735 chr21 19664913 19664914 rs997088 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.354235 0.227234 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1152.000000,3856.000000, 0.230032,0.769968, maf-5-some-pop,maf-5-all-pops 735 chr21 19664970 19664971 rs997087 0 - T T A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.354665 0.227036 intron exact 1 MixedObserved 31 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1154.000000,3854.000000, 0.230431,0.769569, maf-5-some-pop,maf-5-all-pops 735 chr21 19664970 19664972 rs386816749 0 + TT TT CC/TT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19664971 19664972 rs115192276 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 735 chr21 19665005 19665006 rs141757385 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19665025 19665026 rs55861166 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19665028 19665029 rs563042518 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19665048 19665049 rs747554379 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665071 19665072 rs530468236 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19665082 19665083 rs997086 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.048295 0.147699 intron exact 1 35 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 124.000000,4884.000000, 0.024760,0.975240, maf-5-some-pop 735 chr21 19665089 19665090 rs776905618 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665090 19665091 rs549398320 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665096 19665097 rs146255702 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19665103 19665104 rs55901415 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.152001 0.229992 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 415.000000,4593.000000, 0.082867,0.917133, maf-5-some-pop 735 chr21 19665148 19665149 rs866574424 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19665168 19665169 rs9305859 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.35894 0.225016 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1174.000000,3834.000000, 0.234425,0.765575, maf-5-some-pop,maf-5-all-pops 735 chr21 19665295 19665296 rs551843072 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19665297 19665298 rs78188784 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19665312 19665313 rs139303383 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19665331 19665332 rs759216210 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665343 19665344 rs550806741 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19665350 19665351 rs577197041 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19665423 19665424 rs760648530 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19665431 19665432 rs115070980 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19665438 19665439 rs767341026 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665455 19665456 rs374037394 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19665505 19665506 rs368310285 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19665517 19665518 rs545966084 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19665543 19665544 rs1040634 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.359787 0.224604 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3830.000000,1178.000000, 0.764776,0.235224, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19665589 19665590 rs760664122 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665595 19665596 rs182662178 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19665606 19665607 rs527737032 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19665610 19665611 rs144166298 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19665619 19665620 rs558790935 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19665630 19665631 rs79112238 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.03337 0.124785 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 85.000000,4923.000000, 0.016973,0.983027, maf-5-some-pop 735 chr21 19665645 19665646 rs753275618 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665647 19665648 rs761398245 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665651 19665666 rs567105907 0 + TGGTTCTTTCTAACA TGGTTCTTTCTAACA -/TGGTTCTTTCTAACA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,TGGTTCTTTCTAACA, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19665662 19665663 rs370916368 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19665706 19665707 rs76399581 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 49.000000,4959.000000, 0.009784,0.990216, maf-5-some-pop 735 chr21 19665756 19665757 rs764747150 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665772 19665773 rs574774668 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,DDI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19665788 19665789 rs542147037 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19665794 19665795 rs547930170 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665819 19665820 rs1040633 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.36021 0.224397 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3828.000000,1180.000000, 0.764377,0.235623, maf-5-some-pop,maf-5-all-pops 735 chr21 19665824 19665825 rs75033812 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ENSEMBL,EVA-GONL, 1 C, 2.000000, 1.000000, 735 chr21 19665850 19665851 rs780610474 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665854 19665855 rs572323394 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19665881 19665882 rs752096454 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665884 19665885 rs755606603 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665897 19665898 rs781768583 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665914 19665915 rs748130324 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665940 19665941 rs540285200 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19665945 19665946 rs73210239 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.175254 0.238565 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4522.000000,486.000000, 0.902955,0.097045, maf-5-some-pop 735 chr21 19665957 19665958 rs371466657 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19665966 19665967 rs749573744 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19665997 19665998 rs868659958 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19666005 19666006 rs187768881 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666017 19666018 rs550297750 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666019 19666020 rs2824717 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.48978 0.070751 intron exact 1 23 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2146.000000,2862.000000, 0.428514,0.571486, maf-5-some-pop,genotype-conflict 735 chr21 19666028 19666029 rs559575029 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,PADH-LAB_SPU,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666037 19666038 rs750007942 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19666051 19666052 rs192203947 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19666063 19666064 rs566628939 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666113 19666114 rs374199384 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19666160 19666161 rs527606468 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19666161 19666162 rs547341229 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19666175 19666176 rs184528595 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19666246 19666247 rs775332574 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19666247 19666248 rs760469738 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19666258 19666259 rs538368518 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666264 19666265 rs758056525 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19666291 19666292 rs556264460 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19666326 19666327 rs190217762 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19666333 19666334 rs768521384 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19666345 19666346 rs574517330 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666348 19666349 rs535717088 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19666371 19666372 rs776651604 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19666379 19666380 rs367763421 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19666418 19666419 rs192524076 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19666446 19666447 rs572259790 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19666466 19666467 rs546079151 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666470 19666471 rs369357414 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19666525 19666526 rs6517807 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.418491 0.184691 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1493.000000,3515.000000, 0.298123,0.701877, maf-5-some-pop,maf-5-all-pops 735 chr21 19666526 19666527 rs751113625 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19666529 19666530 rs4395327 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.402277 0.198272 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3611.000000,1397.000000, 0.721046,0.278954, maf-5-some-pop,maf-5-all-pops 735 chr21 19666535 19666536 rs372503105 0 + T T C/T genomic single by-cluster 0.000017 0.002883 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,120337.000000, 0.000008,0.999992, 735 chr21 19666540 19666541 rs762636795 0 + G G G/T genomic single unknown 0.000017 0.002882 intron exact 1 1 EVA_EXAC, 2 G,T, 120355.000000,1.000000, 0.999992,0.000008, 735 chr21 19666541 19666542 rs766240376 0 + C C A/C genomic single by-frequency 0.000066 0.005766 intron exact 1 1 EVA_EXAC, 2 A,C, 4.000000,120308.000000, 0.000033,0.999967, 735 chr21 19666550 19666551 rs751417137 0 + C C C/T genomic single unknown 0.000017 0.002881 intron exact 1 1 EVA_EXAC, 2 C,T, 120507.000000,1.000000, 0.999992,0.000008, 735 chr21 19666554 19666555 rs544316085 0 + G G A/G genomic single by-1000genomes 0.00005 0.004987 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 4.000000,125610.000000, 0.000032,0.999968, 735 chr21 19666559 19666560 rs766956937 0 + G G C/G genomic single by-frequency 0.000033 0.00407 intron exact 1 1 EVA_EXAC, 2 C,G, 2.000000,120704.000000, 0.000017,0.999983, 735 chr21 19666569 19666570 rs752210249 0 + C C C/T genomic single by-frequency 0.00005 0.004979 intron exact 1 1 EVA_EXAC, 2 C,T, 120983.000000,3.000000, 0.999975,0.000025, 735 chr21 19666571 19666572 rs562433262 0 + T T C/T genomic single by-1000genomes 0.000017 0.002875 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,126022.000000, 0.000016,0.999984, 735 chr21 19666579 19666580 rs777389000 0 + C C C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 121137.000000,1.000000, 0.999992,0.000008, 735 chr21 19666583 19666584 rs374155945 0 + C C C/T genomic single unknown 0.000154 0.008773 intron exact 1 1 NHLBI-ESP, 2 C,T, 13005.000000,1.000000, 0.999923,0.000077, 735 chr21 19666585 19666586 rs753574461 0 + C C C/G/T genomic single by-frequency 0.000083 0.006423 splice-5 exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 121187.000000,1.000000,4.000000, 0.999959,0.000008,0.000033, 735 chr21 19666589 19666590 rs8130110 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.002126 0.032534 missense exact 1 9 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SEATTLESEQ,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 151.000000,126083.000000, 0.001196,0.998804, 735 chr21 19666591 19666592 rs747421061 0 + C C C/T genomic single by-frequency 0.000049 0.004974 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121229.000000,3.000000, 0.999975,0.000025, 735 chr21 19666592 19666593 rs769295883 0 + A A A/T genomic single by-frequency 0.000099 0.007034 missense exact 1 1 EVA_EXAC, 2 A,T, 121230.000000,6.000000, 0.999951,0.000049, 735 chr21 19666593 19666594 rs145507332 0 + C C C/T genomic single by-cluster 0.000016 0.002872 missense exact 1 3 EVA_EXAC,EXOME_CHIP,NHLBI-ESP, 2 C,T, 121241.000000,1.000000, 0.999992,0.000008, 735 chr21 19666594 19666595 rs370908748 0 + G G A/G/T genomic single by-cluster,by-frequency 0.000066 0.005743 coding-synon,nonsense exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 A,G,T, 3.000000,121244.000000,1.000000, 0.000025,0.999967,0.000008, 735 chr21 19666600 19666601 rs773278092 0 + T T G/T genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121283.000000, 0.000008,0.999992, 735 chr21 19666603 19666604 rs763270693 0 + G G A/G genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121285.000000, 0.000008,0.999992, 735 chr21 19666604 19666605 rs770587075 0 + G G A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121291.000000, 0.000008,0.999992, 735 chr21 19666605 19666606 rs548456872 0 + C C C/T genomic single by-1000genomes 0.000016 0.002871 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126307.000000,1.000000, 0.999992,0.000008, 735 chr21 19666606 19666607 rs138776442 0 + G G A/G genomic single by-cluster 0.000016 0.002871 coding-synon exact 1 2 EVA_EXAC,YSAMUELS, 2 A,G, 1.000000,121303.000000, 0.000008,0.999992, clinically-assoc,submitted-by-lsdb 735 chr21 19666607 19666608 rs767439439 0 + G G A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121311.000000, 0.000008,0.999992, 735 chr21 19666610 19666611 rs752686815 0 + A A A/C genomic single by-frequency 0.000066 0.005757 missense exact 1 1 EVA_EXAC, 2 A,C, 120656.000000,4.000000, 0.999967,0.000033, 735 chr21 19666612 19666613 rs760154862 0 + C C C/T genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121333.000000,1.000000, 0.999992,0.000008, 735 chr21 19666616 19666617 rs763633692 0 + C C C/T genomic single unknown 0.000016 0.002871 nonsense exact 1 1 EVA_EXAC, 2 C,T, 121349.000000,1.000000, 0.999992,0.000008, 735 chr21 19666627 19666628 rs753392665 0 + G G C/G genomic single by-frequency 0.000049 0.004971 coding-synon exact 1 1 EVA_EXAC, 2 C,G, 3.000000,121365.000000, 0.000025,0.999975, 735 chr21 19666629 19666630 rs202100185 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000099 0.00703 missense exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,CLINSEQ_SNP,EVA_EXAC,WEILL_CORNELL_DGM, 2 C,T, 126375.000000,7.000000, 0.999945,0.000055, 735 chr21 19666630 19666631 rs369366818 0 + G G A/G genomic single by-cluster 0.000016 0.00287 coding-synon exact 1 2 EVA_EXAC,SSMP, 2 A,G, 1.000000,121371.000000, 0.000008,0.999992, 735 chr21 19666638 19666639 rs372571410 0 + C C A/C/T genomic single by-cluster,by-frequency 0.000033 0.004059 missense exact 1 SingleClassTriAllelic 3 EVA_EXAC,EVA_MGP,NHLBI-ESP, 3 A,C,T, 1.000000,121374.000000,1.000000, 0.000008,0.999984,0.000008, 735 chr21 19666639 19666640 rs377055842 0 + G G A/G genomic single by-cluster,by-frequency 0.000099 0.00703 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 6.000000,121372.000000, 0.000049,0.999951, 735 chr21 19666641 19666642 rs370207339 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000132 0.008117 missense exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 C,T, 126379.000000,9.000000, 0.999929,0.000071, 735 chr21 19666642 19666643 rs769957633 0 + G G A/G genomic single by-cluster,by-frequency 0.000132 0.008117 coding-synon exact 1 2 EVA_DECODE,EVA_EXAC, 2 A,G, 8.000000,121372.000000, 0.000066,0.999934, 735 chr21 19666648 19666649 rs777935992 0 + C C C/G genomic single by-frequency 0.000033 0.004059 coding-synon exact 1 1 EVA_EXAC, 2 C,G, 121388.000000,2.000000, 0.999984,0.000016, 735 chr21 19666652 19666653 rs770288636 0 + C C C/T genomic single by-cluster,by-frequency 0.000049 0.004971 missense exact 1 2 EVA_EXAC,EVA_FINRISK, 2 C,T, 121385.000000,3.000000, 0.999975,0.000025, 735 chr21 19666653 19666654 rs771190392 0 + G G A/G genomic single by-frequency 0.000033 0.004059 nonsense exact 1 1 EVA_EXAC, 2 A,G, 2.000000,121396.000000, 0.000016,0.999984, 735 chr21 19666655 19666656 rs774505357 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121401.000000,1.000000, 0.999992,0.000008, 735 chr21 19666656 19666657 rs552068844 0 + C C C/T genomic single by-1000genomes 0.000132 0.008116 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126403.000000,9.000000, 0.999929,0.000071, 735 chr21 19666657 19666658 rs771901034 0 + G G A/G genomic single by-frequency 0.000099 0.007029 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 6.000000,121394.000000, 0.000049,0.999951, 735 chr21 19666658 19666659 rs775373680 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19666660 19666661 rs760633326 0 + A A A/G genomic single by-frequency 0.000033 0.004059 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121402.000000,2.000000, 0.999984,0.000016, 735 chr21 19666670 19666671 rs763542195 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121401.000000,1.000000, 0.999992,0.000008, 735 chr21 19666673 19666674 rs776218251 0 + A A A/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,T, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19666675 19666676 rs761304640 0 + A A A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19666676 19666677 rs764937713 0 + A A A/T genomic single unknown 0 0 missense exact 1 1 EVA_EXAC, 0 735 chr21 19666677 19666678 rs368655507 0 + C C C/G/T genomic single by-cluster,by-frequency 0.000132 0.008117 missense exact 1 MixedObserved,SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 C,G,T, 121390.000000,2.000000,6.000000, 0.999934,0.000016,0.000049, 735 chr21 19666677 19666678 rs780890490 0 + C C -/C genomic deletion unknown 0.000016 0.00287 frameshift exact 1 MixedObserved 1 EVA_EXAC, 2 -,C, 1.000000,121396.000000, 0.000008,0.999992, 735 chr21 19666681 19666682 rs768026786 0 + G G C/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121403.000000, 0.000008,0.999992, 735 chr21 19666689 19666690 rs570651162 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000313 0.012505 missense exact 1 4 1000GENOMES,BGI,EVA_EXAC,ILLUMINA, 2 C,T, 126390.000000,22.000000, 0.999826,0.000174, 735 chr21 19666690 19666691 rs370598030 0 + C C C/T genomic single unknown 0.000154 0.008773 coding-synon exact 1 1 NHLBI-ESP, 2 C,T, 13005.000000,1.000000, 0.999923,0.000077, 735 chr21 19666695 19666696 rs756702226 0 + C C C/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,G, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19666707 19666708 rs777652405 0 + T T C/T genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121402.000000, 0.000016,0.999984, 735 chr21 19666710 19666711 rs749385646 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19666711 19666712 rs201247305 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000066 0.00574 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 5.000000,126407.000000, 0.000040,0.999960, 735 chr21 19666715 19666716 rs779171766 0 + A A A/G genomic single by-frequency 0.000082 0.006417 missense exact 1 1 EVA_EXAC, 2 A,G, 121399.000000,5.000000, 0.999959,0.000041, 735 chr21 19666717 19666718 rs750020972 0 + A A A/G genomic single unknown 0 0 coding-synon exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19666723 19666724 rs746126429 0 + T T C/T genomic single by-frequency 0.000049 0.004971 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 3.000000,121391.000000, 0.000025,0.999975, 735 chr21 19666732 19666733 rs771810875 0 + G G A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121379.000000, 0.000008,0.999992, 735 chr21 19666734 19666735 rs775281790 0 + C C A/C genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121369.000000, 0.000008,0.999992, 735 chr21 19666739 19666740 rs746890958 0 + G G A/G genomic single by-frequency 0.000049 0.004972 missense exact 1 1 EVA_EXAC, 2 A,G, 3.000000,121343.000000, 0.000025,0.999975, 735 chr21 19666740 19666741 rs375370843 0 + C C C/T genomic single by-cluster 0.000016 0.002871 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121329.000000,1.000000, 0.999992,0.000008, 735 chr21 19666742 19666743 rs776497470 0 + G G G/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 G,T, 121321.000000,1.000000, 0.999992,0.000008, 735 chr21 19666743 19666744 rs761371509 0 + C C A/C genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121319.000000, 0.000008,0.999992, 735 chr21 19666747 19666748 rs749950017 0 + T T -/T genomic deletion by-frequency 0.000099 0.007032 frameshift exact 1 1 EVA_EXAC, 2 -,T, 6.000000,121296.000000, 0.000049,0.999951, 735 chr21 19666753 19666754 rs764696101 0 + T T C/T genomic single unknown 0.000016 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121237.000000, 0.000008,0.999992, 735 chr21 19666756 19666757 rs772960321 0 + A A A/T genomic single unknown 0.000017 0.002873 nonsense exact 1 1 EVA_EXAC, 2 A,T, 121171.000000,1.000000, 0.999992,0.000008, 735 chr21 19666761 19666762 rs143432711 0 + C C C/T genomic single by-cluster 0.00005 0.004976 splice-3 exact 1 3 EVA_EXAC,ILLUMINA,NHLBI-ESP, 2 C,T, 121155.000000,3.000000, 0.999975,0.000025, 735 chr21 19666764 19666764 rs755889485 0 + - - -/T genomic insertion unknown 0.000017 0.002873 intron between 1 1 EVA_EXAC, 2 -,T, 121127.000000,1.000000, 0.999992,0.000008, 735 chr21 19666768 19666769 rs368032551 0 + A A A/C genomic single by-cluster 0.000017 0.002873 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 121119.000000,1.000000, 0.999992,0.000008, 735 chr21 19666771 19666772 rs372216531 0 + A A A/G genomic single by-cluster,by-frequency 0.000165 0.009085 intron exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 121106.000000,10.000000, 0.999917,0.000083, 735 chr21 19666776 19666777 rs756618135 0 + G G G/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 G,T, 121105.000000,1.000000, 0.999992,0.000008, 735 chr21 19666786 19666787 rs764653056 0 + A A A/T genomic single unknown 0.000017 0.002874 intron exact 1 1 EVA_EXAC, 2 A,T, 121037.000000,1.000000, 0.999992,0.000008, 735 chr21 19666787 19666788 rs754354437 0 + T T G/T genomic single unknown 0.000017 0.002874 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121041.000000, 0.000008,0.999992, 735 chr21 19666805 19666806 rs779867588 0 + T T -/T genomic deletion unknown 0.000017 0.002875 intron exact 1 1 EVA_EXAC, 2 -,T, 1.000000,120961.000000, 0.000008,0.999992, 735 chr21 19666857 19666858 rs766844821 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19666863 19666864 rs550266884 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19666881 19666882 rs757325670 0 + G G C/G genomic single by-frequency 0.00005 0.004975 intron exact 1 1 EVA_EXAC, 2 C,G, 3.000000,121203.000000, 0.000025,0.999975, 735 chr21 19666885 19666886 rs778888023 0 + G G A/G genomic single unknown 0.000017 0.002872 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121209.000000, 0.000008,0.999992, 735 chr21 19666889 19666890 rs746037972 0 + G G C/G genomic single by-frequency 0.000049 0.004975 intron exact 1 1 EVA_EXAC, 2 C,G, 3.000000,121207.000000, 0.000025,0.999975, 735 chr21 19666892 19666893 rs568075405 0 + G G G/T genomic single by-1000genomes 0.000016 0.002872 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 126218.000000,2.000000, 0.999984,0.000016, 735 chr21 19666896 19666897 rs374861503 0 + G G G/T genomic single by-cluster,by-frequency 0.000082 0.006422 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 G,T, 121223.000000,5.000000, 0.999959,0.000041, 735 chr21 19666900 19666901 rs1540000 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.394121 0.204277 intron exact 1 30 1000GENOMES,ABI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 34148.000000,92080.000000, 0.270526,0.729474, maf-5-some-pop,genotype-conflict 735 chr21 19666904 19666905 rs768391912 0 + A A A/T genomic single by-frequency 0.000033 0.004061 intron exact 1 1 EVA_EXAC, 2 A,T, 121242.000000,2.000000, 0.999983,0.000016, 735 chr21 19666905 19666906 rs776606731 0 + A A A/T genomic single by-frequency 0.000033 0.004061 intron exact 1 1 EVA_EXAC, 2 A,T, 121242.000000,2.000000, 0.999983,0.000016, 735 chr21 19666908 19666909 rs748068936 0 + T T C/T genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121247.000000, 0.000008,0.999992, 735 chr21 19666909 19666910 rs2824718 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.488941 0.073533 intron exact 1 30 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 72870.000000,53346.000000, 0.577344,0.422656, maf-5-some-pop 735 chr21 19666914 19666915 rs772863412 0 + C C A/C genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121241.000000, 0.000008,0.999992, 735 chr21 19666917 19666918 rs762627432 0 + A A A/G genomic single unknown 0.000016 0.002872 splice-5 exact 1 1 EVA_EXAC, 2 A,G, 121233.000000,1.000000, 0.999992,0.000008, 735 chr21 19666924 19666925 rs770706751 0 + T T C/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121239.000000, 0.000008,0.999992, 735 chr21 19666927 19666928 rs774208898 0 + T T A/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,121241.000000, 0.000008,0.999992, 735 chr21 19666929 19666930 rs761081488 0 + A A A/G genomic single by-frequency 0.000099 0.007034 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121226.000000,6.000000, 0.999951,0.000049, 735 chr21 19666931 19666932 rs150923238 0 + A A A/G genomic single by-cluster 0.000033 0.004062 missense exact 1 3 EVA_EXAC,NHLBI-ESP,WEILL_CORNELL_DGM, 2 A,G, 121228.000000,2.000000, 0.999983,0.000016, 735 chr21 19666933 19666934 rs754327553 0 + T T C/T genomic single by-frequency 0.000181 0.009523 missense exact 1 1 EVA_EXAC, 2 C,T, 11.000000,121217.000000, 0.000091,0.999909, 735 chr21 19666935 19666936 rs762245083 0 + T T C/T genomic single unknown 0 0 coding-synon exact 1 1 EVA_EXAC, 0 735 chr21 19666936 19666937 rs748851550 0 + A A -/A genomic deletion unknown 0.000099 0.007034 frameshift exact 1 1 EVA_EXAC, 2 -,A, 6.000000,121219.000000, 0.000049,0.999951, 735 chr21 19666938 19666939 rs765298370 0 + C C C/T genomic single by-frequency 0.000033 0.004062 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121222.000000,2.000000, 0.999983,0.000016, 735 chr21 19666939 19666940 rs374128782 0 + C C C/G/T genomic single by-cluster,by-frequency 0.000264 0.011485 missense exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 C,G,T, 121210.000000,10.000000,6.000000, 0.999868,0.000082,0.000049, 735 chr21 19666940 19666941 rs140721787 0 + G G A/G genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 A,G, 1.000000,13003.000000, 0.000077,0.999923, 735 chr21 19666955 19666956 rs780239894 0 + G G A/G genomic single unknown 0.000017 0.002873 nonsense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121145.000000, 0.000008,0.999992, 735 chr21 19666958 19666959 rs751827457 0 + A A A/G genomic single unknown 0.000017 0.002873 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121141.000000,1.000000, 0.999992,0.000008, 735 chr21 19666967 19666968 rs754764474 0 + G G C/G genomic single by-frequency 0.000033 0.004063 missense exact 1 1 EVA_EXAC, 2 C,G, 2.000000,121112.000000, 0.000017,0.999983, 735 chr21 19666971 19666972 rs376582963 0 + G G A/C/G genomic single by-cluster,by-frequency 0.000066 0.005747 intron exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 A,C,G, 3.000000,1.000000,121086.000000, 0.000025,0.000008,0.999967, 735 chr21 19666976 19666977 rs369233950 0 + A A A/G genomic single by-cluster,by-frequency 0.00005 0.004978 intron exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 121051.000000,3.000000, 0.999975,0.000025, 735 chr21 19666987 19666988 rs777927771 0 + C C C/T genomic single by-frequency 0.000033 0.004067 intron exact 1 1 EVA_EXAC, 2 C,T, 120890.000000,2.000000, 0.999983,0.000017, 735 chr21 19666997 19666998 rs139473028 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00362 0.04239 intron exact 1 8 1000GENOMES,CLINSEQ_SNP,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,NHLBI-ESP, 2 A,G, 125554.000000,228.000000, 0.998187,0.001813, 735 chr21 19667002 19667003 rs770616833 0 + A A A/C genomic single unknown 0.000017 0.002879 intron exact 1 1 EVA_EXAC, 2 A,C, 120629.000000,1.000000, 0.999992,0.000008, 735 chr21 19667005 19667006 rs774118870 0 + C C A/C genomic single unknown 0.000017 0.00288 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120525.000000, 0.000008,0.999992, 735 chr21 19667008 19667008 rs769086390 0 + - - -/AGAG genomic insertion unknown 0.000017 0.002879 intron between 1 1 EVA_EXAC, 2 -,AGAG, 120609.000000,1.000000, 0.999992,0.000008, 735 chr21 19667015 19667016 rs759140114 0 + T T A/T genomic single by-frequency 0.000033 0.004076 intron exact 1 1 EVA_EXAC, 2 A,T, 2.000000,120386.000000, 0.000017,0.999983, 735 chr21 19667027 19667028 rs540161109 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19667067 19667068 rs149653614 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19667095 19667096 rs576592068 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19667113 19667114 rs184517299 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667121 19667122 rs543929534 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19667125 19667126 rs13047771 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.305934 0.243663 intron exact 1 24 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4064.000000,944.000000, 0.811502,0.188498, maf-5-some-pop,genotype-conflict 735 chr21 19667151 19667152 rs145516693 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19667156 19667157 rs554760336 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19667203 19667204 rs749470107 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667229 19667230 rs141269141 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19667254 19667255 rs73210244 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076315 0.179815 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 199.000000,4809.000000, 0.039736,0.960264, maf-5-some-pop 735 chr21 19667259 19667260 rs189228625 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19667267 19667268 rs746754201 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667309 19667310 rs546102280 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19667338 19667339 rs564095710 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19667348 19667349 rs73210245 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 214.000000,4794.000000, 0.042732,0.957268, maf-5-some-pop 735 chr21 19667357 19667358 rs116570821 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 735 chr21 19667358 19667359 rs531995275 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19667413 19667414 rs115980273 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19667433 19667434 rs116907908 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 intron exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4926.000000,82.000000, 0.983626,0.016374, maf-5-some-pop 735 chr21 19667436 19667437 rs373153782 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19667464 19667465 rs776693119 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19667467 19667468 rs761658082 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19667482 19667483 rs539709181 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19667502 19667503 rs376218590 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19667507 19667508 rs181202606 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19667509 19667510 rs868848492 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19667515 19667516 rs546226419 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19667521 19667522 rs537647275 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19667530 19667531 rs556034903 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19667541 19667542 rs2824719 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.407674 0.194008 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1428.000000,3580.000000, 0.285144,0.714856, maf-5-some-pop,maf-5-all-pops 735 chr21 19667554 19667555 rs541970861 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19667555 19667556 rs186241057 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19667578 19667579 rs572025559 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19667583 19667584 rs761292609 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667605 19667606 rs114841118 0 + C C C/G genomic single by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 1 1000GENOMES, 2 C,G, 4958.000000,50.000000, 0.990016,0.009984, maf-5-some-pop 735 chr21 19667617 19667618 rs576617687 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19667635 19667636 rs774180206 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667662 19667663 rs189907420 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19667680 19667681 rs17002532 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 735 chr21 19667682 19667683 rs767974360 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667711 19667712 rs543205530 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19667776 19667777 rs753135338 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667798 19667799 rs756715205 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19667814 19667815 rs73322028 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,COMPLETE_GENOMICS, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 735 chr21 19667863 19667864 rs17771186 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.055854 0.157504 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 C,T, 4864.000000,144.000000, 0.971246,0.028754, maf-5-some-pop 735 chr21 19667911 19667912 rs180720043 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19667914 19667915 rs7280630 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 735 chr21 19667923 19667924 rs533364243 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19667932 19667933 rs112076905 0 + G G -/G genomic deletion by-cluster 0.5 0 intron exact 1 2 BUSHMAN,TISHKOFF, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19667955 19667956 rs147726435 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19667978 19667979 rs570317410 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668029 19668030 rs757348180 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668040 19668041 rs76777389 0 + G G A/G genomic single by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 1 1000GENOMES, 2 A,G, 50.000000,4958.000000, 0.009984,0.990016, maf-5-some-pop 735 chr21 19668073 19668074 rs779063619 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668082 19668083 rs186102833 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 0 735 chr21 19668086 19668087 rs746124674 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668088 19668089 rs549576140 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19668127 19668128 rs567879623 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668196 19668197 rs535510996 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668208 19668209 rs547895057 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668228 19668229 rs781098035 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668233 19668234 rs748030063 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668234 19668235 rs567774941 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668240 19668241 rs529845903 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19668284 19668285 rs553915859 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668295 19668296 rs762565228 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19668296 19668297 rs571903395 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668314 19668315 rs549988393 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668329 19668330 rs370797870 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19668334 19668335 rs190886077 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 735 chr21 19668338 19668339 rs751056633 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19668342 19668343 rs557509235 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19668346 19668347 rs754582757 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19668351 19668352 rs142521280 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.064842 0.167978 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4840.000000,168.000000, 0.966454,0.033546, maf-5-some-pop 735 chr21 19668360 19668361 rs183432274 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19668379 19668380 rs377662549 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 735 chr21 19668391 19668392 rs868494478 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19668400 19668401 rs573509208 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19668408 19668409 rs541079283 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668426 19668427 rs559794604 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668444 19668445 rs533304291 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19668448 19668449 rs540950041 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19668452 19668453 rs538518203 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668455 19668456 rs563557870 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19668456 19668457 rs531200039 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19668463 19668464 rs754317118 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19668469 19668469 rs552349311 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.000798 0.019964 intron between 1 1 1000GENOMES, 2 -,A, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19668489 19668490 rs185816765 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19668492 19668493 rs549711427 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19668496 19668497 rs57270279 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.499982 0.002995 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2519.000000,2489.000000, 0.502995,0.497005, maf-5-some-pop,maf-5-all-pops 735 chr21 19668504 19668505 rs190598124 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668558 19668559 rs374531053 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19668559 19668560 rs546927030 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668580 19668581 rs775860577 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668595 19668596 rs565761559 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19668651 19668652 rs183748317 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668652 19668653 rs779377946 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19668672 19668676 rs746272522 0 + AAAT AAAT -/AAAT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19668721 19668722 rs187837151 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19668749 19668750 rs575972349 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668762 19668763 rs192928185 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668763 19668764 rs760962984 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668766 19668767 rs758667665 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19668790 19668791 rs182353535 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668800 19668801 rs573644730 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668801 19668802 rs540817745 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668820 19668828 rs538490207 0 + ACACACAT ACACACAT -/ACACACAT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,ACACACAT, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19668824 19668825 rs559316806 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668834 19668835 rs747055028 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19668876 19668877 rs754371723 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668930 19668931 rs578027731 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19668942 19668943 rs56051401 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.092336 0.194016 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 243.000000,4765.000000, 0.048522,0.951478, maf-5-some-pop 735 chr21 19668956 19668957 rs143401299 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19668959 19668960 rs530940160 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19668971 19668972 rs765346101 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19668976 19668977 rs2824720 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.417034 0.18601 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3524.000000,1484.000000, 0.703674,0.296326, maf-5-some-pop,maf-5-all-pops 735 chr21 19668980 19668981 rs186967961 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19668989 19668990 rs192488570 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19668996 19668997 rs117315510 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19669022 19669023 rs148369644 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19669027 19669028 rs533018526 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669035 19669036 rs551204403 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19669042 19669043 rs569262132 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669044 19669045 rs80163768 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,C, 39.000000,4969.000000, 0.007788,0.992212, maf-5-some-pop 735 chr21 19669080 19669081 rs554984301 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19669122 19669123 rs747916243 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19669149 19669150 rs567207715 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19669196 19669197 rs755894754 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19669199 19669200 rs111536358 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4943.000000,65.000000, 0.987021,0.012979, 735 chr21 19669252 19669253 rs777736746 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19669267 19669268 rs528978576 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19669282 19669283 rs185048501 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19669305 19669306 rs553102098 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19669329 19669330 rs749288017 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19669346 19669347 rs577775119 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669350 19669351 rs113671006 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 735 chr21 19669362 19669363 rs557180133 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669373 19669374 rs575856678 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19669429 19669430 rs200228511 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19669485 19669486 rs561303285 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669486 19669487 rs769764936 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19669488 19669489 rs528773683 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669490 19669491 rs192021262 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19669497 19669497 rs34428802 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19669504 19669505 rs574518212 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19669512 19669513 rs113142838 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4943.000000,65.000000, 0.987021,0.012979, 735 chr21 19669516 19669517 rs532607150 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19669542 19669543 rs17002539 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.065959 0.169201 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,HAMMER_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 735 chr21 19669554 19669555 rs569401166 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19669591 19669592 rs530553808 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19669643 19669644 rs185326429 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19669672 19669673 rs990261 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.407845 0.193868 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1429.000000,3579.000000, 0.285343,0.714657, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19669674 19669675 rs534882375 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19669675 19669676 rs9976107 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.171057 0.237209 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 473.000000,4535.000000, 0.094449,0.905551, maf-5-some-pop 735 chr21 19669764 19669765 rs571376451 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669776 19669777 rs149612450 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0.024454 0.107838 intron exact 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,G, 62.000000,4946.000000, 0.012380,0.987620, 735 chr21 19669778 19669779 rs780617908 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19669808 19669809 rs189390235 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669815 19669816 rs767007094 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19669849 19669850 rs11702854 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.006766 0.057769 intron exact 1 10 1000GENOMES,ABI,BL,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19669854 19669855 rs575795342 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19669953 19669954 rs371890700 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19669993 19669994 rs543171686 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19670001 19670002 rs769012755 0 + T T C/T genomic single by-frequency 0.000104 0.007199 intron exact 1 1 EVA_EXAC, 2 C,T, 6.000000,115738.000000, 0.000052,0.999948, 735 chr21 19670003 19670004 rs776870121 0 + T T C/T genomic single by-frequency 0.000104 0.007198 intron exact 1 1 EVA_EXAC, 2 C,T, 6.000000,115758.000000, 0.000052,0.999948, 735 chr21 19670014 19670015 rs762309586 0 + T T G/T genomic single by-frequency 0.000034 0.004147 intron exact 1 1 EVA_EXAC, 2 G,T, 2.000000,116262.000000, 0.000017,0.999983, 735 chr21 19670017 19670018 rs765728934 0 + A A A/G genomic single by-frequency 0.000034 0.004143 intron exact 1 1 EVA_EXAC, 2 A,G, 116508.000000,2.000000, 0.999983,0.000017, 735 chr21 19670018 19670019 rs750986066 0 + C C C/T genomic single unknown 0.000017 0.002929 intron exact 1 1 EVA_EXAC, 2 C,T, 116527.000000,1.000000, 0.999991,0.000009, 735 chr21 19670019 19670020 rs762997924 0 + A A A/C genomic single by-frequency 0.000034 0.004139 intron exact 1 1 EVA_EXAC, 2 A,C, 116708.000000,2.000000, 0.999983,0.000017, 735 chr21 19670020 19670021 rs376550128 0 + A A A/G genomic single by-cluster,by-frequency 0.000068 0.005852 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 116788.000000,4.000000, 0.999966,0.000034, 735 chr21 19670022 19670023 rs554974984 0 + T T A/C/T genomic single by-1000genomes 0.000034 0.004134 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 A,C,T, 1.000000,2.000000,122005.000000, 0.000008,0.000016,0.999975, 735 chr21 19670023 19670024 rs780975099 0 + A A A/G genomic single unknown 0.000017 0.002922 intron exact 1 1 EVA_EXAC, 2 A,G, 117089.000000,1.000000, 0.999991,0.000009, 735 chr21 19670031 19670032 rs752430347 0 + A A A/G genomic single unknown 0.000017 0.002907 intron exact 1 1 EVA_EXAC, 2 A,G, 118341.000000,1.000000, 0.999992,0.000008, 735 chr21 19670037 19670038 rs779123138 0 + T T -/T genomic deletion unknown 0.000017 0.002898 intron exact 1 1 EVA_EXAC, 2 -,T, 1.000000,119067.000000, 0.000008,0.999992, 735 chr21 19670043 19670044 rs755999112 0 + G G A/G genomic single by-frequency 0.00005 0.005003 intron exact 1 1 EVA_EXAC, 2 A,G, 3.000000,119853.000000, 0.000025,0.999975, 735 chr21 19670046 19670047 rs777835427 0 + C C A/C genomic single unknown 0.000017 0.002886 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120059.000000, 0.000008,0.999992, 735 chr21 19670047 19670048 rs370016626 0 + C C C/T genomic single by-cluster,by-frequency 0.000033 0.004079 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 120174.000000,2.000000, 0.999983,0.000017, 735 chr21 19670061 19670062 rs770528581 0 + T T C/T genomic single unknown 0.000017 0.002876 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120863.000000, 0.000008,0.999992, 735 chr21 19670062 19670063 rs368498314 0 + A A A/G genomic single by-cluster,by-frequency 0.00005 0.004981 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 120893.000000,3.000000, 0.999975,0.000025, 735 chr21 19670063 19670064 rs147103214 0 + T T G/T genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 G,T, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19670064 19670065 rs745463205 0 + T T A/T genomic single unknown 0.000017 0.002875 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120951.000000, 0.000008,0.999992, 735 chr21 19670070 19670071 rs771623402 0 + G G C/G genomic single unknown 0.000017 0.002874 coding-synon exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121043.000000, 0.000008,0.999992, 735 chr21 19670072 19670073 rs775279843 0 + C C C/G genomic single unknown 0.000017 0.002874 missense exact 1 1 EVA_EXAC, 2 C,G, 121081.000000,1.000000, 0.999992,0.000008, 735 chr21 19670080 19670081 rs748446963 0 + G G A/G genomic single by-frequency 0.000033 0.004062 missense exact 1 1 EVA_EXAC, 2 A,G, 2.000000,121188.000000, 0.000017,0.999983, 735 chr21 19670082 19670083 rs770191909 0 + T T C/T genomic single by-frequency 0.000049 0.004974 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 3.000000,121221.000000, 0.000025,0.999975, 735 chr21 19670086 19670087 rs773675637 0 + T T C/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121237.000000, 0.000008,0.999992, 735 chr21 19670100 19670101 rs138544495 0 + T T C/T genomic single by-cluster 0.000016 0.002872 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121271.000000, 0.000008,0.999992, 735 chr21 19670105 19670106 rs766389999 0 + C C C/T genomic single by-frequency 0.000066 0.005743 missense exact 1 1 EVA_EXAC, 2 C,T, 121274.000000,4.000000, 0.999967,0.000033, 735 chr21 19670111 19670112 rs372882311 0 + C C C/T genomic single by-cluster,by-frequency 0.000082 0.00642 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121275.000000,5.000000, 0.999959,0.000041, 735 chr21 19670112 19670113 rs143990487 0 + G G A/G genomic single by-cluster 0.000033 0.004061 coding-synon exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 2.000000,121268.000000, 0.000016,0.999983, 735 chr21 19670117 19670118 rs2824721 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.37066 0.218955 missense exact 1 38 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 95007.000000,31301.000000, 0.752185,0.247815, maf-5-some-pop,maf-5-all-pops 735 chr21 19670126 19670127 rs375925991 0 + G G A/G genomic single by-cluster,by-frequency 0.000066 0.005756 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 4.000000,120718.000000, 0.000033,0.999967, 735 chr21 19670131 19670132 rs755944895 0 + G G A/G genomic single unknown 0.000017 0.00288 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120573.000000, 0.000008,0.999992, 735 chr21 19670133 19670134 rs369657590 0 + T T C/G/T genomic single by-cluster,by-frequency 0.000033 0.004075 coding-synon exact 1 SingleClassTriAllelic,InconsistentAlleles 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,120452.000000, 0.000017,0.999983, 735 chr21 19670140 19670141 rs753777044 0 + C C C/T genomic single by-frequency 0.000067 0.005784 missense exact 1 1 EVA_EXAC, 2 C,T, 119532.000000,4.000000, 0.999967,0.000033, 735 chr21 19670143 19670144 rs757271842 0 + C C C/T genomic single unknown 0.000017 0.002901 missense exact 1 1 EVA_EXAC, 2 C,T, 118815.000000,1.000000, 0.999992,0.000008, 735 chr21 19670145 19670146 rs768939472 0 + C C A/C genomic single unknown 0 0 coding-synon exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19670160 19670161 rs778416430 0 + A A A/G genomic single unknown 0.000017 0.002951 intron exact 1 1 EVA_EXAC, 2 A,G, 114823.000000,1.000000, 0.999991,0.000009, 735 chr21 19670175 19670176 rs748727985 0 + A A -/A genomic deletion unknown 0.000018 0.003 intron exact 1 1 EVA_EXAC, 2 -,A, 1.000000,111116.000000, 0.000009,0.999991, 735 chr21 19670184 19670185 rs745361649 0 + G G A/G genomic single by-frequency 0.000074 0.006083 intron exact 1 1 EVA_EXAC, 2 A,G, 4.000000,108086.000000, 0.000037,0.999963, 735 chr21 19670186 19670187 rs184321759 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004371 0.046543 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 112520.000000,242.000000, 0.997854,0.002146, 735 chr21 19670189 19670190 rs750800157 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19670193 19670194 rs779551247 0 + A A A/G genomic single unknown 0.000019 0.003097 intron exact 1 1 EVA_EXAC, 2 A,G, 104279.000000,1.000000, 0.999990,0.000010, 735 chr21 19670195 19670196 rs746712693 0 + A A A/C genomic single unknown 0.000019 0.003107 intron exact 1 1 EVA_EXAC, 2 A,C, 103601.000000,1.000000, 0.999990,0.000010, 735 chr21 19670200 19670201 rs565434943 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19670226 19670227 rs532880293 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19670418 19670419 rs544463758 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19670437 19670441 rs10537881 0 + ACTT ACTT -/ACTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,ACTT, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19670454 19670455 rs762361049 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19670455 19670456 rs188300552 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19670471 19670472 rs530491634 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19670483 19670484 rs548681547 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19670500 19670501 rs765297038 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19670510 19670511 rs750435634 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19670543 19670547 rs758929143 0 + TAAG TAAG -/TAAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19670572 19670572 rs11415685 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron between 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 -,T, 4946.000000,62.000000, 0.987620,0.012380, 735 chr21 19670580 19670581 rs113037185 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19670581 19670582 rs560505314 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19670608 19670609 rs865943934 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19670725 19670726 rs113511019 0 + A A A/C genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,TISHKOFF, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19670758 19670759 rs372992621 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19670764 19670765 rs539802355 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19670769 19670770 rs766573382 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19670775 19670776 rs528075197 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19670828 19670829 rs140447914 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19670834 19670835 rs150392354 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19670844 19670845 rs77421789 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19670849 19670850 rs550776526 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19670850 19670851 rs569094721 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19670885 19670886 rs536710388 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19670894 19670895 rs780569543 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19670939 19670940 rs181821331 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19670963 19670967 rs541483512 0 + TTTA TTTA -/TTTA genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 735 chr21 19670985 19670986 rs747195421 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19670993 19670994 rs573146174 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19671057 19671058 rs375109238 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19671193 19671194 rs369729279 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19671206 19671207 rs755917158 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671207 19671208 rs777770079 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671217 19671218 rs75703640 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 735 chr21 19671244 19671245 rs528258774 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19671293 19671294 rs757198369 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671295 19671296 rs542319912 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19671299 19671300 rs377554712 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19671381 19671382 rs779009956 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671402 19671403 rs745337283 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671405 19671406 rs544524871 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19671425 19671426 rs771510903 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671507 19671508 rs562705060 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19671530 19671532 rs748228003 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671554 19671555 rs138142732 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19671592 19671593 rs542266959 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19671599 19671600 rs560648722 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19671646 19671647 rs2824722 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.46845 0.121572 intron exact 1 24 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3133.000000,1875.000000, 0.625599,0.374401, maf-5-some-pop 735 chr21 19671659 19671660 rs746685194 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671676 19671677 rs769047386 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671678 19671679 rs186134326 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19671715 19671716 rs111737430 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 A,T, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19671718 19671719 rs34819616 0 + A A A/C genomic single unknown 0.375 0.216506 intron exact 1 2 ABI,ENSEMBL, 2 A,C, 3.000000,1.000000, 0.750000,0.250000, 735 chr21 19671761 19671762 rs142902053 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19671784 19671785 rs550910937 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19671786 19671787 rs762168857 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671800 19671801 rs770226762 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671801 19671802 rs370692432 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19671853 19671854 rs536455738 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19671861 19671862 rs146085794 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19671868 19671869 rs548084186 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19671870 19671871 rs550009736 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19671893 19671894 rs534329552 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19671948 19671949 rs563463742 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19671950 19671951 rs577180740 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19671979 19671980 rs766419419 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19671999 19672000 rs138065874 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19672019 19672020 rs556440153 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672023 19672024 rs751793620 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19672078 19672079 rs574839471 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19672085 19672086 rs144144314 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19672087 19672088 rs34402555 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.432063 0.171327 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3427.000000,1581.000000, 0.684305,0.315695, maf-5-some-pop 735 chr21 19672124 19672125 rs572831602 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19672162 19672163 rs540346409 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19672177 19672178 rs564691784 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19672240 19672241 rs190941185 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672248 19672249 rs544472925 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672274 19672275 rs181493255 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19672305 19672306 rs552033175 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19672336 19672337 rs148679480 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19672337 19672338 rs548381376 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672432 19672432 rs774040302 0 + - - -/TA genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19672433 19672434 rs60553864 0 + C C A/C genomic single unknown 0 0 intron exact 1 MixedObserved 2 GMI,HGSV, 0 735 chr21 19672433 19672434 rs371409109 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.376791 0.215463 intron exact 1 MixedObserved 3 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK, 2 -,C, 3747.000000,1261.000000, 0.748203,0.251797, maf-5-some-pop,maf-5-all-pops 735 chr21 19672433 19672448 rs386816750 0 + CGTCTCTTGGATATA CGTCTCTTGGATATA ATCCTT/CGTCTCTTGGATATA genomic in-del by-cluster 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19672433 19672433 rs149585952 0 + - - -/ATCCTTTCCCC genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved 2 1000GENOMES,LUNTER, 0 735 chr21 19672434 19672435 rs60322819 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 HGSV, 0 735 chr21 19672434 19672435 rs200376007 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.375797 0.216044 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,GMI,WEILL_CORNELL_DGM, 2 A,G, 3752.000000,1256.000000, 0.749201,0.250799, maf-5-some-pop,maf-5-all-pops 735 chr21 19672435 19672436 rs201073073 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19672437 19672438 rs60285619 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.376791 0.215463 intron exact 1 MixedObserved 4 1000GENOMES,BILGI_BIOE,EVA_GENOME_DK,HGSV, 2 -,T, 3747.000000,1261.000000, 0.748203,0.251797, maf-5-some-pop,maf-5-all-pops 735 chr21 19672437 19672446 rs138316279 0 + TCTTGGATA TCTTGGATA -/TCTTGGATA genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 4 1000GENOMES,GMI,LUNTER,SSMP, 0 735 chr21 19672441 19672448 rs369262431 0 + GGATATA GGATATA -/GGATATA genomic deletion by-cluster,by-frequency,by-1000genomes 0.375598 0.21616 intron range 1 4 1000GENOMES,BILGI_BIOE,HGSV,PADH-LAB_SPU, 2 -,GGATATA, 3753.000000,1255.000000, 0.749401,0.250599, maf-5-some-pop,maf-5-all-pops 735 chr21 19672445 19672450 rs750577341 0 + ATATC ATATC -/ATATC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 735 chr21 19672447 19672448 rs201979664 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19672448 19672448 rs200863544 0 + - - -/CTT/TAGCTATCCTT genomic insertion by-cluster 0 0 intron between 1 2 GMI,LUNTER, 0 735 chr21 19672454 19672455 rs527749889 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672486 19672487 rs552646569 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19672496 19672497 rs565686515 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19672512 19672513 rs375195505 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BILGI_BIOE, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19672513 19672513 rs201820746 0 + - - -/TC genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 735 chr21 19672514 19672515 rs368219476 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,BILGI_BIOE, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19672515 19672516 rs556181049 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19672517 19672519 rs796215101 0 + TT TT -/TT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 735 chr21 19672518 19672518 rs199972990 0 + - - -/CT/TT genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 735 chr21 19672524 19672525 rs200122559 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 MixedObserved 4 1000GENOMES,BILGI_BIOE,GMI,WEILL_CORNELL_DGM, 2 C,T, 4954.000000,54.000000, 0.989217,0.010783, 735 chr21 19672524 19672527 rs386816751 0 + CTT CTT CTT/TTC genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 735 chr21 19672526 19672527 rs12481767 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.019377 0.096505 intron exact 1 4 1000GENOMES,CSHL-HAPMAP,GMI,WEILL_CORNELL_DGM, 2 C,T, 49.000000,4959.000000, 0.009784,0.990216, 735 chr21 19672527 19672527 rs141752813 0 + - - -/TTTC/TTTCTTTCTTTCTCTCTTTTTC genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 8 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,LUNTER,SSMP,TISHKOFF, 0 735 chr21 19672528 19672528 rs10701453 0 + - - -/TTCT/TTTC genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 4 GMI,HUMANGENOME_JCVI,PJP,TISHKOFF, 1 TTCT, 2.000000, 1.000000, 735 chr21 19672533 19672533 rs386394359 0 + - - -/TTCT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 735 chr21 19672536 19672537 rs59117886 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 MixedObserved 4 1000GENOMES,GMI,HGSV,WEILL_CORNELL_DGM, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19672536 19672536 rs397735862 0 + - - -/TTCT genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 GMI,HGSV, 0 735 chr21 19672540 19672541 rs572616763 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19672541 19672542 rs199996315 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19672542 19672543 rs539909651 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19672543 19672544 rs200941336 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19672544 19672545 rs558623283 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19672548 19672549 rs767861246 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19672560 19672561 rs60513669 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 2 HGSV,TISHKOFF, 0 735 chr21 19672564 19672565 rs57626708 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19672566 19672567 rs58699023 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19672569 19672571 rs548668117 0 + CT CT -/CT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 735 chr21 19672575 19672576 rs58994965 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19672580 19672581 rs577060974 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672583 19672585 rs57054816 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 735 chr21 19672587 19672588 rs150730834 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.070783 0.174302 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4824.000000,184.000000, 0.963259,0.036741, maf-5-some-pop 735 chr21 19672589 19672590 rs57665302 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19672590 19672591 rs562494177 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672599 19672611 rs200438700 0 + TCTCTCTTTCTT TCTCTCTTTCTT -/TCTCTCTTTCTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 4 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 735 chr21 19672599 19672600 rs868333215 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 735 chr21 19672602 19672603 rs60839497 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19672603 19672611 rs567969792 0 + TCTTTCTT TCTTTCTT -/TCTTTCTT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 735 chr21 19672606 19672618 rs56062028 0 + TTCTTTCTCTCT TTCTTTCTCTCT -/TTCTTTCTCTCT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HGSV, 0 735 chr21 19672606 19672607 rs529988110 0 + T T C/T genomic single by-frequency,by-1000genomes 0.094137 0.195465 intron exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 248.000000,4760.000000, 0.049521,0.950479, maf-5-some-pop 735 chr21 19672610 19672611 rs57453491 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 5 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,SSMP,WEILL_CORNELL_DGM, 0 735 chr21 19672660 19672664 rs201956191 0 + TTCT TTCT -/TTCT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 735 chr21 19672668 19672674 rs386816752 0 + TTCTCT TTCTCT C/TTCTCT genomic in-del unknown 0 0 intron rangeDeletion 1 FlankMismatchGenomeShorter 1 TISHKOFF, 0 735 chr21 19672673 19672674 rs10711798 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.384401 0.210799 intron exact 1 12 1000GENOMES,BILGI_BIOE,BL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP, 2 -,T, 3708.000000,1300.000000, 0.740415,0.259585, maf-5-some-pop,maf-5-all-pops 735 chr21 19672684 19672685 rs796770022 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19672697 19672698 rs542123250 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672724 19672725 rs560045480 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19672726 19672727 rs527482553 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19672727 19672728 rs552132271 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19672729 19672730 rs570913579 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19672730 19672731 rs531726865 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19672748 19672749 rs549745039 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19672762 19672763 rs568140503 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19672782 19672783 rs535717894 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19672802 19672803 rs554458271 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19672803 19672804 rs566095790 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19672825 19672825 rs554777552 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 1 1000GENOMES, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19672848 19672849 rs867478553 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19672868 19672869 rs750365656 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19672930 19672931 rs139429685 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19672959 19672960 rs186973637 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19672960 19672961 rs749950945 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19672978 19672979 rs191163991 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19673041 19673042 rs183426991 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19673054 19673055 rs866323240 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19673076 19673077 rs757900405 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673111 19673112 rs56122413 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.164219 0.234823 intron exact 1 MixedObserved 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 452.000000,4556.000000, 0.090256,0.909744, maf-5-some-pop 735 chr21 19673111 19673111 rs35422651 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.439224 0.163383 intron between 1 MixedObserved 11 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,LUNTER,SSMP, 2 -,T, 3377.000000,1631.000000, 0.674321,0.325679, maf-5-some-pop 735 chr21 19673120 19673120 rs397814369 0 + - - -/T genomic insertion unknown 0 0 intron between 1 2 ABI,HGSV, 0 735 chr21 19673130 19673131 rs779484216 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673183 19673184 rs746665592 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673207 19673208 rs2824723 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.3752 0.216391 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1253.000000,3755.000000, 0.250200,0.749800, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19673257 19673258 rs574495085 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19673289 19673290 rs541709416 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19673295 19673296 rs376609593 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19673315 19673316 rs189960635 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19673368 19673369 rs760315553 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19673372 19673373 rs182349366 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19673392 19673393 rs369091975 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19673403 19673404 rs545965025 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19673417 19673418 rs563969759 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19673434 19673435 rs531668649 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19673473 19673478 rs143454650 0 + ATAAG ATAAG -/ATAAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron range 1 2 1000GENOMES,LUNTER, 2 -,ATAAG, 34.000000,4974.000000, 0.006789,0.993211, 735 chr21 19673533 19673534 rs748460800 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673582 19673583 rs549880609 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19673590 19673591 rs528894075 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19673616 19673617 rs770173738 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673684 19673685 rs147579521 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19673735 19673736 rs28549104 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19673751 19673752 rs28691719 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19673837 19673838 rs572815705 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19673838 19673839 rs765831496 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19673842 19673843 rs749820435 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673843 19673844 rs8130239 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.009539 0.068399 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WI_SSAHASNP, 2 A,T, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19673852 19673853 rs774228651 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673853 19673854 rs759677857 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673862 19673863 rs767803485 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19673902 19673903 rs140943382 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19673929 19673930 rs76177385 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 735 chr21 19673932 19673933 rs28698883 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19673969 19673970 rs55706183 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 4 1000GENOMES,HGSV,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19673971 19673972 rs8133660 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.286564 0.247312 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 868.000000,4140.000000, 0.173323,0.826677, maf-5-some-pop 735 chr21 19674006 19674007 rs551922365 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19674007 19674008 rs761666914 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674038 19674039 rs570278474 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674071 19674072 rs765170044 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674079 19674080 rs750357106 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674091 19674092 rs537900337 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19674092 19674093 rs187725856 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19674111 19674112 rs78901638 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 62.000000,4946.000000, 0.012380,0.987620, 735 chr21 19674161 19674162 rs28602344 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19674170 19674172 rs749340451 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674182 19674183 rs28503505 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19674187 19674188 rs766799098 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19674199 19674200 rs535419164 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674200 19674201 rs28520584 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19674234 19674235 rs10482896 0 + C C A/C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.068931 0.172377 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 14 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4829.000000,179.000000, 0.964257,0.035743, maf-5-some-pop 735 chr21 19674236 19674237 rs750975517 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674243 19674244 rs572283903 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19674244 19674245 rs28713519 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19674248 19674249 rs755207128 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19674252 19674253 rs547980415 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19674280 19674281 rs112833356 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19674298 19674299 rs28523855 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19674319 19674320 rs754504771 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674325 19674326 rs563907743 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674394 19674395 rs193257633 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19674396 19674397 rs780781574 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674417 19674418 rs575843977 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674464 19674465 rs747848939 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674479 19674480 rs543467059 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19674484 19674485 rs781329135 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19674518 19674519 rs185163171 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19674553 19674554 rs149812603 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19674554 19674555 rs547755406 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19674554 19674567 rs576433067 0 + GAAAAGGCTTTTG GAAAAGGCTTTTG -/GAAAAGGCTTTTG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 MixedObserved 1 1000GENOMES, 2 -,GAAAAGGCTTTTG, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19674576 19674577 rs559507386 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674579 19674580 rs533638895 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19674594 19674595 rs749668859 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674614 19674615 rs552109501 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19674626 19674627 rs145871628 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674633 19674634 rs771288248 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674649 19674650 rs537639159 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19674665 19674666 rs745905707 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674673 19674674 rs188827306 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19674680 19674681 rs2824724 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.383053 0.211653 intron exact 1 33 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3715.000000,1293.000000, 0.741813,0.258187, maf-5-some-pop,maf-5-all-pops 735 chr21 19674704 19674705 rs535224264 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19674712 19674713 rs149017809 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674713 19674714 rs192664047 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19674795 19674796 rs539680099 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674827 19674828 rs775829061 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674847 19674848 rs761033355 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19674871 19674872 rs373758451 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19674917 19674918 rs557636823 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19674952 19674953 rs185007669 0 + T T C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19675029 19675030 rs556924526 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19675036 19675037 rs543205833 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19675038 19675039 rs143818377 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 735 chr21 19675091 19675092 rs561975218 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19675092 19675093 rs574050112 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19675100 19675101 rs188619928 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19675105 19675106 rs180714062 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19675137 19675138 rs376936081 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19675153 19675154 rs371530176 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19675154 19675155 rs183641526 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19675173 19675174 rs113603089 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,TISHKOFF, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19675189 19675192 rs772139415 0 + ATT ATT -/ATT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675225 19675225 rs756120880 0 + - - -/TTTG genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19675275 19675276 rs777848255 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19675326 19675327 rs765114948 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675403 19675404 rs749179013 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19675418 19675419 rs189137575 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19675422 19675423 rs533172960 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19675422 19675423 rs562892904 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19675457 19675458 rs2824725 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.379942 0.213577 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3731.000000,1277.000000, 0.745008,0.254992, maf-5-some-pop,maf-5-all-pops 735 chr21 19675466 19675467 rs563962030 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19675467 19675468 rs762818916 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19675487 19675488 rs778739747 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19675489 19675490 rs182586884 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19675540 19675541 rs751545405 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675556 19675556 rs201605508 0 + - - -/A genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 735 chr21 19675558 19675559 rs9981155 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.490287 0.069008 intron exact 1 MixedObserved 14 1000GENOMES,BUSHMAN,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SSAHASNP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 2155.000000,2853.000000, 0.430312,0.569688, maf-5-some-pop,maf-5-all-pops 735 chr21 19675558 19675560 rs386816753 0 + CT CT AC/CT genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19675558 19675558 rs35075011 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 735 chr21 19675559 19675560 rs9983837 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.125528 0.21681 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4671.000000,337.000000, 0.932708,0.067292, maf-5-some-pop 735 chr21 19675561 19675562 rs35606282 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19675578 19675579 rs754451802 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675609 19675610 rs528948939 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19675617 19675618 rs146556032 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19675637 19675638 rs370554534 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19675642 19675644 rs746834014 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675646 19675647 rs767073410 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675656 19675657 rs9983921 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.373598 0.21731 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3763.000000,1245.000000, 0.751398,0.248602, maf-5-some-pop,maf-5-all-pops 735 chr21 19675741 19675742 rs9984010 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.378962 0.21417 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3736.000000,1272.000000, 0.746006,0.253994, maf-5-some-pop,maf-5-all-pops 735 chr21 19675752 19675753 rs58327154 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.096293 0.197165 intron exact 1 13 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4754.000000,254.000000, 0.949281,0.050719, maf-5-some-pop 735 chr21 19675777 19675778 rs186711809 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19675790 19675791 rs548212148 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19675795 19675796 rs754105486 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675811 19675812 rs757675659 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675812 19675813 rs779258938 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19675817 19675818 rs776303337 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19675844 19675844 rs34084673 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19675847 19675848 rs867393861 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19675867 19675868 rs192018402 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19675914 19675915 rs181200079 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19675924 19675925 rs530749939 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19675930 19675931 rs568011630 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19675940 19675941 rs573760710 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19675947 19675948 rs185569007 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19675978 19675979 rs536678960 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676008 19676009 rs553185207 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19676023 19676024 rs766833727 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19676033 19676034 rs772263898 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676036 19676037 rs550529961 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19676047 19676048 rs184509070 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN, 0 735 chr21 19676057 19676058 rs545404505 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19676118 19676119 rs751942497 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19676159 19676160 rs9984181 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.151668 0.229849 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4594.000000,414.000000, 0.917332,0.082668, maf-5-some-pop 735 chr21 19676177 19676178 rs76991398 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 5 1000GENOMES,BGI,GMI,JMKIDD_LAB,SSMP, 2 C,G, 4849.000000,159.000000, 0.968251,0.031749, maf-5-some-pop 735 chr21 19676181 19676182 rs190284072 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19676185 19676186 rs141205006 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19676204 19676205 rs752858573 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19676217 19676218 rs559153840 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676234 19676235 rs777794952 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19676246 19676247 rs528681973 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19676260 19676261 rs182104831 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 735 chr21 19676284 19676285 rs565631488 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19676298 19676299 rs762614280 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676312 19676313 rs186975191 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19676337 19676338 rs550941408 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19676350 19676351 rs867662497 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19676445 19676446 rs117631800 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19676446 19676447 rs774259670 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676450 19676451 rs191940885 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,G, 29.000000,4979.000000, 0.005791,0.994209, 735 chr21 19676457 19676458 rs549006848 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19676478 19676479 rs767447379 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676486 19676487 rs567595166 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19676487 19676488 rs114294923 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19676491 19676492 rs760204002 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676578 19676578 rs779499426 0 + - - -/TG genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 735 chr21 19676579 19676579 rs147144131 0 + - - -/TG genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,LUNTER, 0 735 chr21 19676591 19676592 rs553165790 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19676615 19676616 rs578127699 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19676676 19676677 rs753570099 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19676684 19676685 rs375363632 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,TISHKOFF, 0 735 chr21 19676721 19676722 rs539156057 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19676747 19676748 rs557359382 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19676804 19676805 rs2824726 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.193028 0.243422 intron exact 1 20 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4466.000000,542.000000, 0.891773,0.108227, maf-5-some-pop 735 chr21 19676807 19676808 rs543298073 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19676820 19676821 rs539138143 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19676833 19676834 rs184190864 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19676866 19676867 rs115836402 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 4962.000000,46.000000, 0.990815,0.009185, 735 chr21 19676947 19676948 rs757167148 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19676966 19676967 rs145064627 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19677010 19677011 rs532838335 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19677013 19677014 rs373365330 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19677050 19677051 rs4557074 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.026399 0.111815 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 C,G, 67.000000,4941.000000, 0.013379,0.986621, maf-5-some-pop 735 chr21 19677059 19677060 rs142568195 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19677083 19677084 rs150150880 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19677097 19677098 rs188299614 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19677102 19677103 rs567433602 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19677191 19677192 rs535296716 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19677197 19677198 rs114127046 0 + T T G/T genomic single by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 1 1000GENOMES, 2 G,T, 50.000000,4958.000000, 0.009984,0.990016, maf-5-some-pop 735 chr21 19677266 19677266 rs34897917 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19677273 19677274 rs17002545 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 4 1000GENOMES,EVA_DECODE,PERLEGEN,WEILL_CORNELL_DGM, 2 C,G, 59.000000,4949.000000, 0.011781,0.988219, maf-5-some-pop 735 chr21 19677277 19677281 rs542505845 0 + GACA GACA -/GACA genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,GACA, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19677295 19677296 rs539095498 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19677355 19677356 rs193059140 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19677394 19677395 rs117312198 0 + C C A/C genomic single by-cluster,by-1000genomes 0.016528 0.089391 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,C, 1.000000,119.000000, 0.008333,0.991667, 735 chr21 19677463 19677464 rs138585496 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19677468 19677469 rs536245707 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19677469 19677470 rs554984834 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19677472 19677473 rs182928305 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,ILLUMINA,TISHKOFF, 0 735 chr21 19677496 19677497 rs11909148 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.378962 0.21417 intron exact 1 16 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP, 2 A,G, 3736.000000,1272.000000, 0.746006,0.253994, maf-5-some-pop,maf-5-all-pops 735 chr21 19677500 19677500 rs755421244 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 735 chr21 19677520 19677521 rs79677049 0 + T T G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 735 chr21 19677523 19677523 rs59103494 0 + - - -/TTT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 TTT, 2.000000, 1.000000, 735 chr21 19677527 19677528 rs540945490 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19677536 19677537 rs866062203 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19677543 19677544 rs565294176 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19677565 19677566 rs149331253 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 735 chr21 19677567 19677568 rs543500481 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19677575 19677576 rs577023298 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19677591 19677592 rs373632811 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19677600 19677601 rs9975548 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 735 chr21 19677610 19677611 rs186847431 0 + T T A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 735 chr21 19677629 19677630 rs376828654 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19677633 19677634 rs369606694 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19677654 19677655 rs373014994 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19677660 19677661 rs377352146 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,SSMP,WEILL_CORNELL_DGM, 0 735 chr21 19677662 19677663 rs867804070 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19677665 19677666 rs370994795 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19677673 19677674 rs563031232 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19677685 19677686 rs191684858 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 735 chr21 19677707 19677708 rs548678790 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19677740 19677741 rs371406500 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 735 chr21 19677747 19677748 rs746609988 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19677751 19677752 rs139471633 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.307919 0.243198 intron exact 1 MixedObserved 7 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 G,T, 952.000000,4056.000000, 0.190096,0.809904, maf-5-some-pop,maf-5-all-pops 735 chr21 19677751 19677753 rs386816754 0 + TT TT GC/TT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 735 chr21 19677752 19677753 rs143390112 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.307919 0.243198 intron exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 952.000000,4056.000000, 0.190096,0.809904, maf-5-some-pop,maf-5-all-pops 735 chr21 19677755 19677756 rs11909416 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.489722 0.070945 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2145.000000,2863.000000, 0.428315,0.571685, maf-5-some-pop,maf-5-all-pops 735 chr21 19677775 19677776 rs868364578 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19677776 19677777 rs532344288 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19677786 19677787 rs67418853 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.42666 0.176893 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1545.000000,3463.000000, 0.308506,0.691494, maf-5-some-pop 735 chr21 19677792 19677793 rs569360783 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19677794 19677795 rs536783592 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19677795 19677796 rs142110067 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19677796 19677797 rs771466360 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19677799 19677800 rs183606723 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19677826 19677827 rs534178063 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19677871 19677872 rs558819047 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19677911 19677912 rs561860250 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19677947 19677947 rs768491289 0 + - - -/TTA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19677977 19677978 rs17836378 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.288127 0.247076 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4134.000000,874.000000, 0.825479,0.174521, maf-5-some-pop 735 chr21 19678012 19678013 rs760102358 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19678016 19678017 rs866438617 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19678051 19678052 rs17836380 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.289683 0.24683 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4128.000000,880.000000, 0.824281,0.175719, maf-5-some-pop 735 chr21 19678061 19678062 rs189613785 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678065 19678066 rs575221761 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678077 19678078 rs542721663 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678080 19678081 rs151312762 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4950.000000,58.000000, 0.988419,0.011582, 735 chr21 19678084 19678085 rs139348595 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19678092 19678093 rs774067585 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678100 19678101 rs193068901 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678127 19678128 rs565168055 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19678193 19678194 rs532486328 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678198 19678199 rs550776619 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678209 19678210 rs775868038 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19678215 19678216 rs569096573 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678216 19678217 rs759339653 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678280 19678281 rs570471018 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19678291 19678292 rs34336190 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19678296 19678297 rs530105870 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19678300 19678301 rs548663819 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678304 19678305 rs566897285 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678342 19678343 rs771949759 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678361 19678362 rs533012721 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19678367 19678368 rs185796587 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19678393 19678394 rs546739908 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678405 19678406 rs190473173 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678406 19678407 rs760076873 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678414 19678415 rs570787142 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19678452 19678452 rs372493426 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 735 chr21 19678489 19678490 rs17781093 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.286042 0.247388 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 866.000000,4142.000000, 0.172923,0.827077, maf-5-some-pop 735 chr21 19678494 19678495 rs150071286 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19678536 19678537 rs574985004 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678571 19678572 rs181635012 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19678586 19678586 rs34232905 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19678609 19678610 rs369798269 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19678616 19678617 rs79847953 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4947.000000,61.000000, 0.987819,0.012180, 735 chr21 19678617 19678618 rs554648311 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678626 19678627 rs572892813 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678649 19678650 rs753423379 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678654 19678655 rs534933406 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19678657 19678658 rs546249132 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19678659 19678660 rs10482897 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.286303 0.24735 intron exact 1 19 1000GENOMES,AFFY,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 867.000000,4141.000000, 0.173123,0.826877, maf-5-some-pop 735 chr21 19678662 19678663 rs764798191 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678663 19678664 rs146626954 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19678665 19678666 rs532422235 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678673 19678674 rs368754273 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 735 chr21 19678701 19678702 rs544534555 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19678704 19678705 rs186108595 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678741 19678742 rs529893680 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678759 19678760 rs1573442 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.423881 0.179625 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1527.000000,3481.000000, 0.304912,0.695088, maf-5-some-pop,genotype-conflict 735 chr21 19678774 19678775 rs547802430 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,C, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19678782 19678783 rs113144743 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 4 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF, 2 C,T, 52.000000,4956.000000, 0.010383,0.989617, maf-5-some-pop 735 chr21 19678842 19678843 rs188667739 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678852 19678853 rs750265678 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19678869 19678870 rs566232808 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19678893 19678894 rs369451085 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19678901 19678902 rs570527004 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19678915 19678916 rs556886976 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19678941 19678942 rs17002547 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 3 1000GENOMES,PERLEGEN,TISHKOFF, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 735 chr21 19678944 19678945 rs550063805 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19678985 19678986 rs201107724 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.018594 0.094611 intron exact 1 2 1000GENOMES,EVA-GONL, 2 -,T, 47.000000,4961.000000, 0.009385,0.990615, 735 chr21 19678991 19678992 rs756776969 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19679001 19679002 rs752149732 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19679021 19679022 rs568707300 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19679025 19679026 rs115557369 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19679026 19679027 rs535189365 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19679032 19679033 rs76986312 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19679051 19679052 rs754989256 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19679096 19679097 rs572873820 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679118 19679119 rs533899384 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679145 19679146 rs368643181 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19679147 19679148 rs781401586 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19679153 19679154 rs748183198 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19679183 19679184 rs545854979 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19679184 19679185 rs554879826 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19679205 19679206 rs181413795 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19679236 19679237 rs139079769 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.145978 0.227331 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,A, 397.000000,4611.000000, 0.079273,0.920727, maf-5-some-pop 735 chr21 19679264 19679265 rs544270008 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679275 19679276 rs756302054 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19679306 19679307 rs562791100 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19679312 19679313 rs144943577 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 44.000000,4964.000000, 0.008786,0.991214, 735 chr21 19679449 19679450 rs541984193 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19679459 19679459 rs35096074 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19679513 19679514 rs572974045 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19679557 19679558 rs185259685 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19679608 19679609 rs146783849 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19679609 19679610 rs552261563 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19679610 19679611 rs564092187 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19679634 19679635 rs764825830 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19679635 19679635 rs533872520 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.00319 0.039809 intron between 1 1 1000GENOMES, 2 -,A, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19679645 19679646 rs531595577 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19679649 19679650 rs549804905 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679683 19679684 rs568720711 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679685 19679686 rs535801658 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19679738 19679739 rs868148773 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19679761 19679762 rs191148412 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679881 19679882 rs566160104 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679899 19679900 rs533833503 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19679922 19679923 rs558691477 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19679934 19679935 rs2207387 0 - C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.105924 0.204309 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 4727.000000,281.000000, 0.943890,0.056110, maf-5-some-pop 735 chr21 19679940 19679941 rs369168411 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19679944 19679945 rs372156886 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19679959 19679960 rs7277309 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.226779 0.248919 intron exact 1 17 1000GENOMES,AFFY,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 653.000000,4355.000000, 0.130391,0.869609, maf-5-some-pop 735 chr21 19679962 19679963 rs369702759 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19679974 19679974 rs148604339 0 + - - -/AAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 intron between 1 1 1000GENOMES, 2 -,AAT, 4937.000000,71.000000, 0.985823,0.014177, 735 chr21 19679977 19679978 rs373228710 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19679982 19679983 rs2824727 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.281313 0.248031 intron exact 1 16 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,T, 848.000000,4160.000000, 0.169329,0.830671, maf-5-some-pop 735 chr21 19679988 19679989 rs148966932 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19680007 19680008 rs143697781 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19680043 19680044 rs768044216 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680053 19680054 rs560253304 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19680054 19680055 rs544522045 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19680061 19680062 rs148255493 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19680066 19680067 rs79517433 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680069 19680070 rs564232022 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680071 19680072 rs2207386 0 - C C A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.456332 0.141164 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1764.000000,3244.000000, 0.352236,0.647764, maf-5-some-pop,maf-5-all-pops 735 chr21 19680086 19680087 rs2207385 0 - C C G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.447421 0.153379 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 3316.000000,1692.000000, 0.662141,0.337859, maf-5-some-pop 735 chr21 19680097 19680098 rs561961491 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19680124 19680125 rs62213419 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19680128 19680129 rs764930843 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680199 19680200 rs773029384 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680237 19680238 rs763376828 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680240 19680241 rs182667020 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680254 19680255 rs546695552 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680265 19680266 rs141239090 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19680266 19680267 rs751996596 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680297 19680298 rs566232569 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19680321 19680322 rs533554547 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19680328 19680329 rs2824728 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.489837 0.070558 intron exact 1 23 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2861.000000,2147.000000, 0.571286,0.428714, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19680329 19680330 rs187253852 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680332 19680333 rs537957975 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680343 19680344 rs767923579 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680356 19680357 rs191986246 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19680360 19680361 rs752775882 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680362 19680363 rs7281437 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.132066 0.220435 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4652.000000,356.000000, 0.928914,0.071086, maf-5-some-pop,genotype-conflict 735 chr21 19680421 19680422 rs535692970 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680439 19680440 rs553777536 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19680478 19680479 rs376603410 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19680491 19680492 rs572049756 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19680498 19680499 rs182715384 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680576 19680577 rs557561179 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680590 19680591 rs576100583 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680626 19680627 rs777943072 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680638 19680639 rs375870342 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19680641 19680642 rs147015779 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19680693 19680693 rs372780584 0 + - - -/AC/ACACAC genomic insertion by-cluster 0 0 intron between 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 0 735 chr21 19680694 19680696 rs3138687 0 + CA CA (CA)14/15/16/17/19 genomic microsatellite unknown 0 0 intron rangeInsertion 1 FlankMismatchGenomeLonger 1 GDB-SNP, 0 735 chr21 19680699 19680699 rs201804900 0 + - - -/AG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 735 chr21 19680700 19680701 rs7283015 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.496382 0.042378 intron exact 1 MixedObserved 17 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 C,G, 2717.000000,2291.000000, 0.542532,0.457468, maf-5-some-pop,maf-5-all-pops 735 chr21 19680700 19680700 rs112753429 0 + - - -/GA genomic insertion unknown 0.5 0 intron between 1 MixedObserved 1 BUSHMAN, 2 -,GA, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19680718 19680719 rs529277077 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680720 19680722 rs796951580 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 735 chr21 19680721 19680723 rs60253128 0 + AT AT -/AT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 735 chr21 19680721 19680721 rs56025152 0 + - - -/ACACACACAA/ACACAT/CA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 rs-cluster-nonoverlapping-alleles 735 chr21 19680722 19680723 rs57180870 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.332799 0.23589 intron exact 1 13 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 1056.000000,3952.000000, 0.210863,0.789137, maf-5-some-pop 735 chr21 19680722 19680722 rs869063177 0 + - - -/CA genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 735 chr21 19680723 19680723 rs370747948 0 + - - -/AC genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 735 chr21 19680743 19680744 rs746325025 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19680758 19680759 rs187524273 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680780 19680781 rs758180783 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680782 19680783 rs533693336 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680791 19680792 rs551974504 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680792 19680793 rs2824729 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.335101 0.23507 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3942.000000,1066.000000, 0.787141,0.212859, maf-5-some-pop,maf-5-all-pops 735 chr21 19680799 19680800 rs746781050 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680829 19680830 rs113106858 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.34526 0.23114 intron exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3897.000000,1111.000000, 0.778155,0.221845, maf-5-some-pop,maf-5-all-pops 735 chr21 19680835 19680836 rs549612626 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19680852 19680853 rs776453179 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19680861 19680862 rs373596799 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19680885 19680886 rs568194150 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19680886 19680887 rs535095001 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19680893 19680894 rs138163081 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19680915 19680916 rs33940921 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 6 ABI,BILGI_BIOE,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP, 1 -, 2.000000, 1.000000, 735 chr21 19680915 19680917 rs576090312 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 5 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 -,TT, 1827.000000,1296.000000, 0.585014,0.414986, maf-5-some-pop,maf-5-all-pops 735 chr21 19680916 19680917 rs527950287 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.482858 0.09098 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 1885.000000,1296.000000, 0.592581,0.407419, maf-5-some-pop,maf-5-all-pops 735 chr21 19680930 19680930 rs58768389 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 735 chr21 19680938 19680939 rs62213420 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19680941 19680942 rs565617107 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19680949 19680950 rs747652917 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681029 19681030 rs539370891 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19681064 19681065 rs557496379 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19681083 19681084 rs772976624 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681092 19681093 rs762751854 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681143 19681144 rs143428258 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19681202 19681203 rs4401286 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.472522 0.113946 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1917.000000,3091.000000, 0.382788,0.617212, maf-5-some-pop,maf-5-all-pops 735 chr21 19681223 19681224 rs533560504 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19681233 19681234 rs774719677 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681254 19681255 rs759843539 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681257 19681258 rs138658872 0 + C C C/T genomic single by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 735 chr21 19681258 19681259 rs4571147 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.258843 0.249844 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 765.000000,4243.000000, 0.152756,0.847244, maf-5-some-pop 735 chr21 19681274 19681275 rs760723446 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681283 19681284 rs764220974 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681298 19681299 rs541042180 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19681299 19681300 rs559805603 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19681300 19681301 rs578240834 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19681366 19681367 rs545723990 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19681406 19681407 rs563824545 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19681431 19681432 rs531008293 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19681435 19681436 rs376066934 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19681447 19681448 rs776764939 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19681478 19681479 rs754059174 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681515 19681516 rs549593419 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19681533 19681535 rs762104975 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19681536 19681537 rs765181203 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19681540 19681541 rs561614252 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19681544 19681545 rs529013482 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19681552 19681553 rs148564639 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.260227 0.249791 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4238.000000,770.000000, 0.846246,0.153754, maf-5-some-pop 735 chr21 19681596 19681597 rs866011277 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19681616 19681617 rs142910380 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4942.000000,66.000000, 0.986821,0.013179, 735 chr21 19681637 19681638 rs146155299 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681660 19681661 rs140200882 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 95.000000,4913.000000, 0.018970,0.981030, maf-5-some-pop 735 chr21 19681702 19681703 rs551266965 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19681728 19681729 rs865864481 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19681785 19681786 rs781151166 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681834 19681835 rs569983723 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19681875 19681876 rs536846833 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19681879 19681880 rs375169578 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19681880 19681884 rs564298028 0 + AAAC AAAC -/AAAC genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AAAC, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19681898 19681899 rs555562651 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19681938 19681939 rs9941891 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076315 0.179815 intron exact 1 8 1000GENOMES,BCM_SSAHASNP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 199.000000,4809.000000, 0.039736,0.960264, maf-5-some-pop 735 chr21 19681939 19681940 rs146794896 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4962.000000,46.000000, 0.990815,0.009185, 735 chr21 19681943 19681944 rs140437546 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 5 1000GENOMES,EVA_DECODE,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4975.000000,33.000000, 0.993411,0.006589, 735 chr21 19681964 19681965 rs191636279 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19681971 19681972 rs769414475 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19681984 19681985 rs781148042 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19681998 19681999 rs542320559 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682056 19682057 rs545464308 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19682069 19682070 rs145232424 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19682093 19682094 rs555225470 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19682106 19682107 rs575418291 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19682109 19682110 rs770659370 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682150 19682151 rs747706687 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19682151 19682152 rs148877480 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 intron exact 1 4 1000GENOMES,EVA-GONL,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4910.000000,98.000000, 0.980431,0.019569, maf-5-some-pop 735 chr21 19682152 19682153 rs146973061 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19682170 19682171 rs73322055 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.261608 0.24973 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4233.000000,775.000000, 0.845248,0.154752, maf-5-some-pop 735 chr21 19682172 19682173 rs182656897 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19682194 19682195 rs187532381 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19682233 19682234 rs547100205 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19682240 19682241 rs558879011 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682245 19682246 rs192618515 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682281 19682282 rs772373720 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682288 19682288 rs777121475 0 + - - -/TCTC genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19682294 19682305 rs570116381 0 + TGCACAGCTTT TGCACAGCTTT -/TGCACAGCTTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron range 1 2 1000GENOMES,EVA_DECODE, 2 -,TGCACAGCTTT, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19682312 19682313 rs551006441 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682354 19682355 rs61167523 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.314301 0.241589 intron exact 1 16 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4030.000000,978.000000, 0.804712,0.195288, maf-5-some-pop,maf-5-all-pops 735 chr21 19682400 19682401 rs59950636 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.261884 0.249717 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 776.000000,4232.000000, 0.154952,0.845048, maf-5-some-pop 735 chr21 19682511 19682512 rs548869439 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682544 19682545 rs567461049 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682565 19682566 rs73322059 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.300926 0.244758 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4084.000000,924.000000, 0.815495,0.184505, maf-5-some-pop 735 chr21 19682588 19682589 rs117759094 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682615 19682616 rs138106343 0 + A A A/C genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,C, 4992.000000,16.000000, 0.996805,0.003195, 735 chr21 19682627 19682628 rs768946940 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19682668 19682669 rs556754127 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19682672 19682673 rs761900319 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682682 19682683 rs539019045 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19682683 19682684 rs765456933 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682695 19682696 rs60518022 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4853.000000,155.000000, 0.969050,0.030950, maf-5-some-pop 735 chr21 19682700 19682701 rs549082044 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19682769 19682770 rs575820288 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19682782 19682783 rs565800383 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.046395 0.145069 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,A, 119.000000,4889.000000, 0.023762,0.976238, maf-5-some-pop 735 chr21 19682786 19682787 rs184385506 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19682787 19682788 rs531041298 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19682788 19682792 rs749388775 0 + AAAC AAAC -/AAAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682789 19682790 rs554824934 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19682790 19682791 rs372759891 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19682796 19682797 rs11088673 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.480618 0.096516 intron exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2997.000000,2011.000000, 0.598442,0.401558, maf-5-some-pop,maf-5-all-pops 735 chr21 19682815 19682816 rs190443930 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19682819 19682820 rs752676852 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682821 19682822 rs756059126 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682822 19682823 rs59347826 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.379942 0.213577 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1277.000000,3731.000000, 0.254992,0.745008, maf-5-some-pop,maf-5-all-pops 735 chr21 19682832 19682833 rs58276255 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.379354 0.213933 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1274.000000,3734.000000, 0.254393,0.745607, maf-5-some-pop,maf-5-all-pops 735 chr21 19682854 19682855 rs371173282 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19682864 19682865 rs563308478 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682904 19682905 rs546638720 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19682908 19682909 rs568720334 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682922 19682923 rs770606526 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19682941 19682942 rs549260267 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682951 19682952 rs567495447 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682954 19682955 rs553827725 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 735 chr21 19682965 19682966 rs528284558 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19682982 19682983 rs73212033 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.150667 0.229419 intron exact 1 14 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 411.000000,4597.000000, 0.082069,0.917931, maf-5-some-pop 735 chr21 19682998 19682999 rs763149445 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19683003 19683004 rs116500998 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19683021 19683022 rs535550602 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,EVA-GONL, 2 -,A, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19683025 19683026 rs539158136 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19683033 19683034 rs192683169 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19683042 19683043 rs184493022 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19683068 19683069 rs558636367 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19683069 19683070 rs536499450 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19683089 19683090 rs199833775 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19683183 19683184 rs537370173 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19683195 19683196 rs201232387 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 intron exact 1 DuplicateObserved 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,T, 53.000000,4955.000000, 0.010583,0.989417, 735 chr21 19683195 19683195 rs753409804 0 + - - -/T genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 735 chr21 19683215 19683216 rs73212037 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.424814 0.178718 intron exact 1 13 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1533.000000,3475.000000, 0.306110,0.693890, maf-5-some-pop,maf-5-all-pops 735 chr21 19683223 19683224 rs559819784 0 + A A C/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 735 chr21 19683247 19683251 rs746931250 0 + TTCT TTCT -/TTCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19683248 19683251 rs762393650 0 + TCT TCT -/TCT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19683249 19683250 rs371122239 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 LUNTER, 0 735 chr21 19683250 19683253 rs199735939 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 735 chr21 19683250 19683254 rs200321116 0 + TTTT TTTT -/TTTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 735 chr21 19683251 19683254 rs751263601 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19683252 19683254 rs766824995 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19683253 19683254 rs2207384 0 - T T A/G genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0.5 0 intron exact 1 MixedObserved 13 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,CSHL-HAPMAP,ENSEMBL,GMI,HAMMER_LAB,ILLUMINA,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19683253 19683256 rs796066440 0 + TTT TTT C/TTT genomic in-del unknown 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 735 chr21 19683255 19683256 rs867700766 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19683256 19683257 rs145361875 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 BL,GMI,WEILL_CORNELL_DGM, 0 735 chr21 19683257 19683258 rs865971408 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19683266 19683269 rs869201095 0 + TTT TTT -/TTT genomic deletion unknown 0 0 intron range 1 1 TSC-CSHL, 0 735 chr21 19683295 19683296 rs536717820 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 -,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19683296 19683297 rs113465511 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 10 1000GENOMES,BUSHMAN,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 1 -, 2.000000, 1.000000, 735 chr21 19683296 19683297 rs540415032 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19683296 19683296 rs573334064 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron between 1 2 1000GENOMES,HAMMER_LAB, 2 -,G, 4947.000000,61.000000, 0.987819,0.012180, 735 chr21 19683297 19683298 rs867752353 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19683301 19683303 rs386816755 0 + GG GG A/GG genomic in-del unknown 0 0 intron rangeDeletion 1 FlankMismatchGenomeShorter 1 TISHKOFF, 0 735 chr21 19683302 19683303 rs11701138 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.381697 0.212499 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BGI,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1286.000000,3722.000000, 0.256789,0.743211, maf-5-some-pop,maf-5-all-pops 735 chr21 19683302 19683303 rs372460603 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19683303 19683303 rs367998580 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 735 chr21 19683312 19683313 rs577281309 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19683343 19683344 rs544710772 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19683345 19683346 rs189200089 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19683350 19683351 rs74499944 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 735 chr21 19683358 19683359 rs373815762 0 + T T A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19683404 19683405 rs542296813 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19683434 19683435 rs769098024 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19683441 19683442 rs142314376 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19683460 19683461 rs563851872 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19683477 19683478 rs146115862 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 735 chr21 19683484 19683485 rs148203305 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19683495 19683496 rs73322065 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.445855 0.155373 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3328.000000,1680.000000, 0.664537,0.335463, maf-5-some-pop,maf-5-all-pops 735 chr21 19683507 19683507 rs36008545 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.282895 0.247826 intron between 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 4154.000000,854.000000, 0.829473,0.170527, maf-5-some-pop,maf-5-all-pops 735 chr21 19683508 19683508 rs397866409 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19683514 19683515 rs181175799 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19683564 19683565 rs112152598 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19683601 19683602 rs773468556 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19683602 19683603 rs559844471 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19683609 19683610 rs777542616 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19683628 19683629 rs753286606 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19683670 19683670 rs34233774 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19683699 19683700 rs1118289 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 7 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 735 chr21 19683725 19683726 rs371646701 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19683731 19683732 rs150751766 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19683767 19683768 rs766628596 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19683773 19683774 rs186390241 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19683843 19683844 rs137960342 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19683853 19683854 rs189633107 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19683870 19683871 rs149480851 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 47.000000,4961.000000, 0.009385,0.990615, 735 chr21 19683873 19683874 rs114394781 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, maf-5-some-pop 735 chr21 19683874 19683875 rs557386215 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19683924 19683925 rs557008271 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19683948 19683949 rs752492896 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684001 19684002 rs559864696 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19684016 19684017 rs778405383 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19684020 19684021 rs575278008 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19684027 19684028 rs146136672 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19684075 19684076 rs28637313 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.204496 0.245824 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 579.000000,4429.000000, 0.115615,0.884385, maf-5-some-pop,maf-5-all-pops 735 chr21 19684091 19684092 rs764094588 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684104 19684105 rs542339564 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19684116 19684117 rs756781449 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684162 19684163 rs180722128 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684209 19684210 rs778356766 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684215 19684216 rs185978367 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19684233 19684234 rs565026917 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19684243 19684244 rs781380262 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19684268 19684269 rs571374112 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 735 chr21 19684287 19684288 rs757934519 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684290 19684291 rs796555370 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 735 chr21 19684321 19684322 rs532344528 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684332 19684333 rs140117714 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684348 19684349 rs143934549 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 735 chr21 19684350 19684351 rs779699826 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684369 19684370 rs530166624 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684371 19684372 rs548537189 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684386 19684387 rs562633172 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684488 19684489 rs202236281 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19684493 19684494 rs530935459 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19684512 19684513 rs777098740 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19684538 19684539 rs192287671 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684563 19684564 rs534172996 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19684569 19684570 rs183430858 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684584 19684585 rs185810933 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19684598 19684599 rs538417358 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19684601 19684602 rs556508361 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19684602 19684603 rs146383652 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 735 chr21 19684651 19684652 rs866350939 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19684690 19684691 rs531008671 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19684758 19684759 rs372800483 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19684812 19684813 rs535980326 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19684813 19684814 rs554565233 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19684839 19684840 rs748593086 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19684862 19684863 rs550688609 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19684871 19684872 rs769893075 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19684925 19684926 rs79385037 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.048295 0.147699 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 4884.000000,124.000000, 0.975240,0.024760, maf-5-some-pop 735 chr21 19684974 19684975 rs372104431 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19685003 19685004 rs540278895 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19685005 19685006 rs773417709 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19685025 19685026 rs190613650 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19685037 19685038 rs866686119 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19685051 19685052 rs2824730 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.379942 0.213577 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,T, 3731.000000,1277.000000, 0.745008,0.254992, maf-5-some-pop,maf-5-all-pops 735 chr21 19685056 19685057 rs113946263 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,BUSHMAN, 2 -,C, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19685065 19685066 rs8127234 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 735 chr21 19685078 19685079 rs112982004 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.041436 0.137845 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 106.000000,4902.000000, 0.021166,0.978834, maf-5-some-pop 735 chr21 19685079 19685080 rs774605797 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19685105 19685106 rs142747367 0 + A A A/C genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 A,C, 4984.000000,24.000000, 0.995208,0.004792, 735 chr21 19685131 19685132 rs548394364 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19685182 19685182 rs34582893 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19685221 19685222 rs770102264 0 + T T C/T genomic single by-frequency 0.00015 0.008658 intron exact 1 1 EVA_EXAC, 2 C,T, 9.000000,120021.000000, 0.000075,0.999925, 735 chr21 19685223 19685224 rs368892564 0 + G G A/G/T genomic single by-cluster,by-frequency 0.000067 0.005772 intron exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 A,G,T, 1.000000,120058.000000,3.000000, 0.000008,0.999967,0.000025, 735 chr21 19685225 19685226 rs77229231 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013023 0.079635 intron exact 1 8 1000GENOMES,BGI,CLINSEQ_SNP,EVA_EXAC,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,SSMP, 2 A,G, 124349.000000,887.000000, 0.992917,0.007083, maf-5-some-pop 735 chr21 19685238 19685239 rs774981143 0 + A A A/G/T genomic single by-frequency 0.000314 0.012527 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 120967.000000,1.000000,18.000000, 0.999843,0.000008,0.000149, 735 chr21 19685240 19685241 rs201778867 0 + G G G/T genomic single by-cluster 0.000017 0.002874 intron exact 1 2 CLINSEQ_SNP,EVA_EXAC, 2 G,T, 121063.000000,1.000000, 0.999992,0.000008, 735 chr21 19685243 19685244 rs775537935 0 + C C C/T genomic single by-frequency 0.000033 0.004063 intron exact 1 1 EVA_EXAC, 2 C,T, 121158.000000,2.000000, 0.999983,0.000017, 735 chr21 19685256 19685257 rs761002888 0 + C C C/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 C,T, 121313.000000,1.000000, 0.999992,0.000008, 735 chr21 19685257 19685258 rs763920943 0 + T T G/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121323.000000, 0.000008,0.999992, 735 chr21 19685260 19685261 rs753687052 0 + C C C/T genomic single unknown 0.000016 0.002871 splice-5 exact 1 1 EVA_EXAC, 2 C,T, 121341.000000,1.000000, 0.999992,0.000008, 735 chr21 19685261 19685262 rs527666973 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000148 0.00861 missense exact 1 3 1000GENOMES,EVA_EXAC,ILLUMINA, 2 A,C, 10.000000,126346.000000, 0.000079,0.999921, 735 chr21 19685263 19685263 rs34942696 0 + - - -/C genomic insertion unknown 0 0 frameshift between 1 1 ABI, 0 735 chr21 19685267 19685268 rs765072586 0 + C C A/C genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121371.000000, 0.000008,0.999992, 735 chr21 19685272 19685273 rs369361046 0 + C C A/C genomic single by-cluster,by-frequency 0.000033 0.004059 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 2.000000,121374.000000, 0.000016,0.999984, 735 chr21 19685274 19685275 rs552186062 0 + G G G/T genomic single by-1000genomes 0.000033 0.004059 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 126379.000000,3.000000, 0.999976,0.000024, 735 chr21 19685276 19685277 rs564350633 0 + T T C/T genomic single by-cluster 0.000016 0.00287 missense exact 1 4 EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,121377.000000, 0.000008,0.999992, 735 chr21 19685277 19685277 rs35184231 0 + - - -/T genomic insertion unknown 0 0 frameshift between 1 1 ABI, 0 735 chr21 19685291 19685292 rs77200626 0 + G G C/G genomic single by-cluster,by-1000genomes 0.001301 0.025469 nonsense exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP,OMIM-CURATED-RECORDS, 2 C,G, 80.000000,126316.000000, 0.000633,0.999367, clinically-assoc,has-omim-omia,submitted-by-lsdb 735 chr21 19685295 19685296 rs754632037 0 + T T C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121387.000000, 0.000008,0.999992, 735 chr21 19685315 19685316 rs780889907 0 + G G C/G genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 C,G, 2.000000,121390.000000, 0.000016,0.999984, 735 chr21 19685324 19685325 rs760186415 0 + G G A/G genomic single by-cluster,by-frequency 0.000115 0.007592 missense exact 1 5 EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,121389.000000, 0.000058,0.999942, 735 chr21 19685325 19685326 rs149384708 0 + T T G/T genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 G,T, 1.000000,121395.000000, 0.000008,0.999992, 735 chr21 19685327 19685328 rs144744682 0 + T T C/T genomic single by-cluster 0.000049 0.004971 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 3.000000,121393.000000, 0.000025,0.999975, 735 chr21 19685335 19685336 rs547294416 0 + G G A/G genomic single by-cluster,by-frequency 0.000066 0.00574 coding-synon exact 1 2 EVA-GONL,EVA_EXAC, 2 A,G, 4.000000,121390.000000, 0.000033,0.999967, 735 chr21 19685345 19685346 rs771999495 0 + C C A/C genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121373.000000, 0.000008,0.999992, 735 chr21 19685346 19685347 rs111276490 0 + T T C/T genomic single unknown 0.5 0 missense exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19685351 19685352 rs375777008 0 + C C C/T genomic single by-cluster,by-frequency 0.000099 0.00703 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121366.000000,6.000000, 0.999951,0.000049, 735 chr21 19685352 19685353 rs369769966 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000198 0.009941 coding-synon,missense exact 1 SingleClassTriAllelic 4 1000GENOMES,EVA_DECODE,EVA_EXAC,NHLBI-ESP, 3 A,G,T, 9.000000,126369.000000,4.000000, 0.000071,0.999897,0.000032, 735 chr21 19685361 19685362 rs373828613 0 + C C A/C/G genomic single by-cluster,by-frequency 0.000049 0.004972 missense exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 A,C,G, 1.000000,121359.000000,2.000000, 0.000008,0.999975,0.000016, 735 chr21 19685371 19685372 rs765120268 0 + C C C/T genomic single by-frequency 0.000148 0.00861 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121337.000000,9.000000, 0.999926,0.000074, 735 chr21 19685372 19685373 rs750285967 0 + G G A/G genomic single by-cluster,by-frequency 0.000214 0.010348 missense exact 1 2 EVA_EXAC,ILLUMINA, 2 A,G, 13.000000,121327.000000, 0.000107,0.999893, 735 chr21 19685382 19685383 rs762968217 0 + T T G/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121309.000000, 0.000008,0.999992, 735 chr21 19685385 19685386 rs765740901 0 + A A A/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,T, 121297.000000,1.000000, 0.999992,0.000008, 735 chr21 19685388 19685389 rs751066756 0 + A A A/C genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,C, 121273.000000,1.000000, 0.999992,0.000008, 735 chr21 19685390 19685391 rs550314806 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000165 0.009079 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126254.000000,12.000000, 0.999905,0.000095, 735 chr21 19685391 19685392 rs780801754 0 + G G A/G genomic single by-frequency 0.000033 0.004061 missense exact 1 1 EVA_EXAC, 2 A,G, 2.000000,121244.000000, 0.000016,0.999983, 735 chr21 19685393 19685394 rs752390425 0 + A A A/G genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 A,G, 121231.000000,1.000000, 0.999992,0.000008, 735 chr21 19685394 19685395 rs757525993 0 + C C C/G/T genomic single by-frequency 0.000049 0.004974 splice-3 exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 121223.000000,2.000000,1.000000, 0.999975,0.000016,0.000008, 735 chr21 19685398 19685399 rs568570679 0 + A A A/C genomic single by-1000genomes 0.000017 0.002873 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 126158.000000,2.000000, 0.999984,0.000016, 735 chr21 19685404 19685405 rs7281534 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.46646 0.12508 intron exact 1 MixedObserved 23 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 79324.000000,46426.000000, 0.630807,0.369193, maf-5-some-pop,maf-5-all-pops 735 chr21 19685404 19685408 rs772560060 0 + AGAG AGAG -/AGAG genomic deletion unknown 0.000017 0.002874 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,AGAG, 1.000000,121093.000000, 0.000008,0.999992, 735 chr21 19685407 19685408 rs780771531 0 + G G C/G genomic single unknown 0.000017 0.00288 intron exact 1 1 EVA_EXAC, 2 C,G, 1.000000,120573.000000, 0.000008,0.999992, 735 chr21 19685424 19685425 rs747069529 0 + C C A/C genomic single unknown 0.000017 0.002888 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,119919.000000, 0.000008,0.999992, 735 chr21 19685440 19685441 rs768905318 0 + G G A/G genomic single unknown 0.000017 0.002911 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,118013.000000, 0.000008,0.999992, 735 chr21 19685441 19685442 rs367616414 0 + C C A/C/T genomic single by-cluster,by-frequency 0.000085 0.006518 intron exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 A,C,T, 1.000000,117665.000000,4.000000, 0.000008,0.999958,0.000034, 735 chr21 19685442 19685443 rs371037903 0 + G G A/G genomic single by-cluster,by-frequency 0.000034 0.004129 intron exact 1 3 EVA_EXAC,EVA_MGP,NHLBI-ESP, 2 A,G, 2.000000,117312.000000, 0.000017,0.999983, 735 chr21 19685448 19685449 rs865918330 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19685487 19685488 rs112884868 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19685523 19685524 rs554702800 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19685544 19685545 rs79179727 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4920.000000,88.000000, 0.982428,0.017572, 735 chr21 19685557 19685558 rs114994530 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 88.000000,4920.000000, 0.017572,0.982428, 735 chr21 19685559 19685560 rs6517809 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.051326 0.151752 intron exact 1 9 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 735 chr21 19685570 19685571 rs182961016 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19685587 19685590 rs774761117 0 + TCA TCA -/TCA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19685619 19685620 rs188127749 0 + T T C/G/T genomic single by-1000genomes 0 0 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19685652 19685652 rs557198662 0 + - - -/TC/TCTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron between 1 InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,TCTC, 4950.000000,58.000000, 0.988419,0.011582, 735 chr21 19685665 19685666 rs143954180 0 + C C A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 6 1000GENOMES,BL,EVA-GONL,GMI,ILLUMINA,WEILL_CORNELL_DGM, 0 735 chr21 19685666 19685666 rs145916814 0 + - - -/TATA/TCTA genomic insertion by-cluster,by-frequency,by-1000genomes 0.351438 0.238922 intron between 1 2 1000GENOMES,LUNTER, 3 -,TATA,TCTA, 3888.000000,49.000000,1071.000000, 0.776358,0.009784,0.213858, 735 chr21 19685667 19685668 rs8133003 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.4711 0.116682 intron exact 1 14 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,PJP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 3106.000000,1902.000000, 0.620208,0.379792, maf-5-some-pop,maf-5-all-pops 735 chr21 19685667 19685667 rs59702784 0 + - - -/CTAT/CTCT genomic insertion by-cluster 0 0 intron between 1 2 GMI,HGSV, 0 735 chr21 19685668 19685668 rs575644491 0 + - - -/TG genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 735 chr21 19685669 19685670 rs187735282 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4938.000000,70.000000, 0.986022,0.013978, 735 chr21 19685680 19685681 rs574541242 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19685702 19685703 rs151065817 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.037988 0.132479 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4911.000000,97.000000, 0.980631,0.019369, maf-5-some-pop 735 chr21 19685721 19685723 rs550879831 0 + TC TC -/TC genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 intron range 1 1 1000GENOMES, 2 -,TC, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19685745 19685746 rs560196876 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19685754 19685755 rs114931165 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4898.000000,110.000000, 0.978035,0.021965, maf-5-some-pop 735 chr21 19685798 19685799 rs545764123 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19685808 19685809 rs538350727 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19685869 19685870 rs192467082 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19685908 19685909 rs17002548 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.05397 0.155153 intron exact 1 6 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 139.000000,4869.000000, 0.027756,0.972244, maf-5-some-pop 735 chr21 19685909 19685910 rs550210624 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19685944 19685945 rs557936771 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19685958 19685959 rs867277692 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19685981 19685982 rs568783342 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19685991 19685992 rs1999289 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.483852 0.088393 intron exact 1 21 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 2054.000000,2954.000000, 0.410144,0.589856, maf-5-some-pop,maf-5-all-pops 735 chr21 19686009 19686010 rs117315731 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,C, 4972.000000,36.000000, 0.992812,0.007188, 735 chr21 19686016 19686017 rs536231437 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19686030 19686031 rs141012518 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686040 19686041 rs748550027 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686130 19686131 rs770141487 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686131 19686132 rs144718141 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686157 19686158 rs185016042 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19686206 19686207 rs570353520 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686207 19686208 rs374556804 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19686210 19686211 rs5842679 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19686210 19686213 rs201464811 0 + AAA AAA -/AAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.443598 0.158176 intron range 1 MixedObserved 5 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 -,AAA, 1663.000000,3345.000000, 0.332069,0.667931, maf-5-some-pop,maf-5-all-pops 735 chr21 19686211 19686213 rs755542766 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686223 19686224 rs397867672 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19686224 19686225 rs397866924 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19686225 19686226 rs397867360 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19686226 19686227 rs866872926 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19686232 19686233 rs117647996 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.03722 0.131242 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,WEILL_CORNELL_DGM, 2 A,T, 95.000000,4913.000000, 0.018970,0.981030, maf-5-some-pop 735 chr21 19686240 19686241 rs187972823 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19686265 19686266 rs749297326 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686274 19686275 rs756445077 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19686296 19686297 rs866307813 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19686319 19686320 rs556172553 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686320 19686321 rs574708929 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19686328 19686329 rs147622770 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19686348 19686349 rs553571108 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19686349 19686350 rs774704038 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686350 19686351 rs142155667 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19686366 19686367 rs772430722 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686373 19686374 rs776513552 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686394 19686395 rs866573580 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19686412 19686413 rs573531719 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19686434 19686435 rs545901860 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686440 19686441 rs5842680 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.474363 0.110278 intron exact 1 MixedObserved 14 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 3071.000000,1937.000000, 0.613219,0.386781, maf-5-some-pop,maf-5-all-pops 735 chr21 19686440 19686441 rs201742136 0 + T T C/T genomic single unknown 0 0 intron exact 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 735 chr21 19686446 19686447 rs398081479 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 BGI, 0 735 chr21 19686447 19686448 rs397866778 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19686494 19686495 rs577347927 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19686495 19686496 rs192008179 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19686517 19686518 rs9305860 0 + C C A/C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.018594 0.094611 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 9 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 735 chr21 19686550 19686551 rs543840859 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686555 19686555 rs575693613 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 735 chr21 19686577 19686578 rs2406174 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.461037 0.134028 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3203.000000,1805.000000, 0.639577,0.360423, maf-5-some-pop 735 chr21 19686592 19686593 rs374137172 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19686593 19686594 rs113851331 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19686596 19686597 rs367744941 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19686604 19686605 rs185196662 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686605 19686606 rs28485981 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSAHASNP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19686616 19686617 rs564313606 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686619 19686620 rs866691997 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19686624 19686625 rs751207803 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686651 19686652 rs566295229 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19686663 19686664 rs138630329 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686680 19686681 rs148825570 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19686694 19686695 rs780836532 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686695 19686696 rs143465601 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4931.000000,77.000000, 0.984625,0.015375, maf-5-some-pop 735 chr21 19686697 19686698 rs756543112 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686698 19686699 rs147979995 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19686718 19686719 rs142483885 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19686732 19686733 rs568234749 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686740 19686741 rs535383729 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19686751 19686752 rs553505249 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19686765 19686766 rs775435180 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19686769 19686770 rs563548881 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 -,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19686777 19686778 rs189677812 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19686780 19686781 rs745963245 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686785 19686786 rs539288769 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19686786 19686787 rs144657368 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4954.000000,54.000000, 0.989217,0.010783, 735 chr21 19686805 19686806 rs576507683 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686809 19686810 rs543435550 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19686812 19686813 rs562127461 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19686813 19686814 rs574358152 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686821 19686822 rs138971522 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.094497 0.195752 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 249.000000,4759.000000, 0.049720,0.950280, maf-5-some-pop 735 chr21 19686828 19686829 rs761479000 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686845 19686846 rs142113813 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19686850 19686851 rs28532285 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 10 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 59.000000,4949.000000, 0.011781,0.988219, 735 chr21 19686859 19686860 rs763012828 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686863 19686864 rs370358832 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19686873 19686874 rs551981483 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19686892 19686893 rs766306501 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19686919 19686919 rs549317489 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,SSMP, 0 735 chr21 19686931 19686932 rs569276514 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19686935 19686936 rs564011774 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19686952 19686953 rs181465011 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19686958 19686959 rs2824731 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.383632 0.211288 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1296.000000,3712.000000, 0.258786,0.741214, maf-5-some-pop 735 chr21 19686985 19686986 rs759069367 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687012 19687013 rs138253927 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 DuplicateObserved 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,A, 79.000000,4929.000000, 0.015775,0.984225, maf-5-some-pop 735 chr21 19687012 19687012 rs755395415 0 + - - -/A genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 735 chr21 19687016 19687017 rs184442859 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 735 chr21 19687018 19687019 rs767126300 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687021 19687022 rs752444773 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687065 19687066 rs756422920 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19687068 19687069 rs139389476 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 28.000000,4980.000000, 0.005591,0.994409, 735 chr21 19687086 19687087 rs2824732 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.499784 0.010381 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2452.000000,2556.000000, 0.489617,0.510383, maf-5-some-pop 735 chr21 19687104 19687105 rs757968489 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19687143 19687144 rs565684381 0 + A A A/G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19687156 19687157 rs199944398 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19687193 19687194 rs368906619 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19687194 19687195 rs745907636 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687201 19687202 rs557965083 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687208 19687209 rs772315002 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687216 19687217 rs576423235 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687220 19687221 rs537571479 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19687221 19687222 rs555425398 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687243 19687244 rs780113238 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687275 19687276 rs574089510 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19687277 19687278 rs541487674 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687279 19687280 rs149638070 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19687284 19687285 rs76438909 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19687285 19687286 rs545239437 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687290 19687291 rs563930647 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19687294 19687295 rs531262945 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687299 19687300 rs543514323 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19687304 19687305 rs769469081 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687346 19687347 rs188295223 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687375 19687376 rs2144203 0 - G G C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.081446 0.184634 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 34 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 213.000000,4795.000000, 0.042532,0.957468, maf-5-some-pop 735 chr21 19687406 19687407 rs774312752 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19687408 19687409 rs28605207 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.053593 0.154675 intron exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 138.000000,4870.000000, 0.027556,0.972444, maf-5-some-pop 735 chr21 19687414 19687415 rs371456985 0 + A A A/G genomic single unknown 0.000154 0.008773 intron exact 1 1 NHLBI-ESP, 2 A,G, 13005.000000,1.000000, 0.999923,0.000077, 735 chr21 19687416 19687417 rs773065450 0 + G G A/G genomic single unknown 0.000017 0.002881 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120495.000000, 0.000008,0.999992, 735 chr21 19687418 19687419 rs144258692 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003213 0.03995 intron exact 1 6 1000GENOMES,BGI,EVA_EXAC,GMI,NHLBI-ESP,SSMP, 2 A,C, 125367.000000,219.000000, 0.998256,0.001744, 735 chr21 19687430 19687431 rs766326542 0 + C C C/T genomic single unknown 0.000017 0.002878 intron exact 1 1 EVA_EXAC, 2 C,T, 120761.000000,1.000000, 0.999992,0.000008, 735 chr21 19687432 19687433 rs751547343 0 + T T C/T genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120803.000000, 0.000008,0.999992, 735 chr21 19687433 19687434 rs759018686 0 + A A A/G genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 A,G, 120809.000000,1.000000, 0.999992,0.000008, 735 chr21 19687438 19687439 rs767048989 0 + T T C/T genomic single unknown 0.000017 0.002876 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120893.000000, 0.000008,0.999992, 735 chr21 19687440 19687441 rs773336068 0 + T T -/T genomic deletion unknown 0.000017 0.002876 intron exact 1 1 EVA_EXAC, 2 -,T, 1.000000,120923.000000, 0.000008,0.999992, 735 chr21 19687452 19687453 rs752300282 0 + T T C/T genomic single by-frequency 0.000116 0.007601 intron exact 1 1 EVA_EXAC, 2 C,T, 7.000000,121115.000000, 0.000058,0.999942, 735 chr21 19687462 19687463 rs755808165 0 + C C C/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 C,T, 121231.000000,1.000000, 0.999992,0.000008, 735 chr21 19687481 19687482 rs765450009 0 + G G A/G genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121343.000000, 0.000008,0.999992, 735 chr21 19687485 19687486 rs750792964 0 + T T A/T genomic single by-frequency 0.000049 0.004972 missense exact 1 1 EVA_EXAC, 2 A,T, 3.000000,121347.000000, 0.000025,0.999975, 735 chr21 19687489 19687490 rs758743894 0 + C C C/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 C,T, 121355.000000,1.000000, 0.999992,0.000008, 735 chr21 19687491 19687492 rs533271314 0 + C C C/T genomic single by-1000genomes 0.000033 0.00406 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126355.000000,3.000000, 0.999976,0.000024, 735 chr21 19687493 19687494 rs747558341 0 + G G C/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121359.000000, 0.000008,0.999992, 735 chr21 19687495 19687496 rs755069394 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121359.000000, 0.000008,0.999992, 735 chr21 19687496 19687497 rs142775372 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000066 0.005741 coding-synon exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 C,T, 126365.000000,5.000000, 0.999960,0.000040, 735 chr21 19687497 19687498 rs146029374 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001614 0.02836 missense exact 1 SingleClassTriAllelic 6 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,JMKIDD_LAB,NHLBI-ESP, 3 A,C,G, 126257.000000,1.000000,110.000000, 0.999122,0.000008,0.000870, 735 chr21 19687503 19687504 rs368662013 0 + C C A/C/T genomic single by-cluster 0.000016 0.00287 missense exact 1 SingleClassTriAllelic,InconsistentAlleles 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 1.000000,121363.000000, 0.000008,0.999992, 735 chr21 19687504 19687505 rs139992374 0 + C C C/T genomic single by-cluster 0.000214 0.010347 missense exact 1 4 EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,T, 121353.000000,13.000000, 0.999893,0.000107, 735 chr21 19687505 19687506 rs148711749 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003553 0.042 coding-synon exact 1 11 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,NHLBI-ESP,WEILL_CORNELL_DGM, 2 A,G, 225.000000,126145.000000, 0.001780,0.998219, 735 chr21 19687506 19687507 rs774236854 0 + T T C/T genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121356.000000, 0.000016,0.999984, 735 chr21 19687510 19687511 rs555897866 0 + A A A/G genomic single by-1000genomes 0.000016 0.002871 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 126362.000000,2.000000, 0.999984,0.000016, 735 chr21 19687511 19687512 rs766958931 0 + G G A/G genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121355.000000, 0.000008,0.999992, 735 chr21 19687512 19687513 rs774988811 0 + A A A/T genomic single by-frequency 0.000049 0.004972 missense exact 1 1 EVA_EXAC, 2 A,T, 121353.000000,3.000000, 0.999975,0.000025, 735 chr21 19687516 19687517 rs11088674 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.033517 0.125041 missense exact 1 15 1000GENOMES,CLINSEQ_SNP,EVA_DECODE,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,HAMMER_LAB,ILLUMINA,NHLBI-ESP,PERLEGEN,SC_SNP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 2343.000000,124019.000000, 0.018542,0.981458, maf-5-some-pop,genotype-conflict 735 chr21 19687518 19687519 rs763786688 0 + A A A/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,T, 121353.000000,1.000000, 0.999992,0.000008, 735 chr21 19687521 19687522 rs372010407 0 + A A A/G genomic single by-cluster 0.000016 0.002871 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 121351.000000,1.000000, 0.999992,0.000008, 735 chr21 19687523 19687524 rs758757827 0 + T T C/T genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121351.000000, 0.000008,0.999992, 735 chr21 19687524 19687525 rs766881566 0 + G G A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121349.000000, 0.000008,0.999992, 735 chr21 19687529 19687530 rs752061746 0 + A A A/G genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121337.000000,1.000000, 0.999992,0.000008, 735 chr21 19687536 19687537 rs201326949 0 + C C C/G genomic single unknown 0.001998 0.031544 missense exact 1 NonIntegerChromCount 1 CLINSEQ_SNP, 2 C,G, 1308.689941,1.310000, 0.999000,0.001000, 735 chr21 19687537 19687538 rs755553149 0 + C C A/C genomic single unknown 0.000016 0.002871 nonsense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121321.000000, 0.000008,0.999992, 735 chr21 19687540 19687541 rs781781695 0 + T T C/T genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121319.000000, 0.000008,0.999992, 735 chr21 19687543 19687544 rs139156916 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000099 0.007032 missense exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 3 C,G,T, 1.000000,7.000000,126312.000000, 0.000008,0.000055,0.999937, 735 chr21 19687545 19687546 rs778026112 0 + C C C/T genomic single by-frequency 0.000115 0.007595 missense exact 1 1 EVA_EXAC, 2 C,T, 121297.000000,7.000000, 0.999942,0.000058, 735 chr21 19687547 19687548 rs749506886 0 + T T A/C/T genomic single by-frequency 0.000115 0.007596 coding-synon,missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,6.000000,121291.000000, 0.000008,0.000049,0.999942, 735 chr21 19687556 19687557 rs774147379 0 + G G G/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 G,T, 121223.000000,1.000000, 0.999992,0.000008, 735 chr21 19687560 19687561 rs745742701 0 + G G A/C/G genomic single by-frequency 0.000033 0.004064 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,G, 1.000000,1.000000,121086.000000, 0.000008,0.000008,0.999983, 735 chr21 19687573 19687574 rs376129645 0 + C C C/G/T genomic single by-cluster 0.000308 0.012405 splice-3 exact 1 SingleClassTriAllelic,InconsistentAlleles 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,NHLBI-ESP, 2 C,T, 13004.000000,2.000000, 0.999846,0.000154, 735 chr21 19687577 19687578 rs775343840 0 + G G G/T genomic single unknown 0.000017 0.002892 intron exact 1 1 EVA_EXAC, 2 G,T, 119563.000000,1.000000, 0.999992,0.000008, 735 chr21 19687580 19687581 rs372351802 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000017 0.002899 intron exact 1 3 1000GENOMES,EVA_EXAC,SSMP, 2 C,G, 3.000000,123993.000000, 0.000024,0.999976, 735 chr21 19687581 19687582 rs779347159 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19687583 19687584 rs763549960 0 + A A A/G genomic single by-frequency 0.000017 0.002907 intron exact 1 1 EVA_EXAC, 2 A,G, 118345.000000,1.000000, 0.999992,0.000008, 735 chr21 19687585 19687586 rs747100959 0 + A A -/A genomic deletion unknown 0.000017 0.00291 intron exact 1 1 EVA_EXAC, 2 -,A, 1.000000,118086.000000, 0.000008,0.999992, 735 chr21 19687587 19687588 rs376457477 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19687588 19687589 rs776305999 0 + G G A/G genomic single by-frequency 0.000034 0.004136 intron exact 1 1 EVA_EXAC, 2 A,G, 2.000000,116920.000000, 0.000017,0.999983, 735 chr21 19687594 19687595 rs761392599 0 + T T G/T genomic single unknown 0.000017 0.002941 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,115573.000000, 0.000009,0.999991, 735 chr21 19687603 19687603 rs770927742 0 + - - -/AAATACTTT genomic insertion unknown 0.000016 0.00287 intron between 1 1 EVA_EXAC, 2 -,AAATACTTT, 121393.000000,1.000000, 0.999992,0.000008, 735 chr21 19687604 19687605 rs766791060 0 + A A A/G genomic single by-frequency 0.00007 0.005928 intron exact 1 1 EVA_EXAC, 2 A,G, 113808.000000,4.000000, 0.999965,0.000035, 735 chr21 19687610 19687611 rs751975999 0 + A A A/C genomic single unknown 0.000018 0.002993 intron exact 1 1 EVA_EXAC, 2 A,C, 111611.000000,1.000000, 0.999991,0.000009, 735 chr21 19687612 19687613 rs760037286 0 + C C C/T genomic single unknown 0.000018 0.003006 intron exact 1 1 EVA_EXAC, 2 C,T, 110683.000000,1.000000, 0.999991,0.000009, 735 chr21 19687616 19687617 rs768116620 0 + A A A/G genomic single unknown 0.000018 0.003022 intron exact 1 1 EVA_EXAC, 2 A,G, 109525.000000,1.000000, 0.999991,0.000009, 735 chr21 19687618 19687619 rs753186488 0 + T T C/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121317.000000, 0.000008,0.999992, 735 chr21 19687625 19687626 rs578243359 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687642 19687643 rs144758205 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19687650 19687651 rs71675872 0 + C C -/C genomic deletion by-cluster,by-1000genomes 0.019769 0.097435 intron exact 1 2 1000GENOMES,LUNTER, 2 -,C, 50.000000,4958.000000, 0.009984,0.990016, 735 chr21 19687653 19687654 rs770678859 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19687667 19687668 rs116368029 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_MGP,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 735 chr21 19687682 19687683 rs575785466 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19687690 19687691 rs147894844 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 A,G, 4974.000000,34.000000, 0.993211,0.006789, 735 chr21 19687692 19687693 rs558265070 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_GENOME_DK, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 735 chr21 19687708 19687709 rs144363802 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 735 chr21 19687715 19687715 rs750916574 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 735 chr21 19687721 19687722 rs151192350 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19687722 19687723 rs13049960 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19687757 19687757 rs199938163 0 + - - -/A genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 735 chr21 19687758 19687759 rs199839618 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.34989 0.229177 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,BILGI_BIOE,GMI,WEILL_CORNELL_DGM, 2 A,G, 3876.000000,1132.000000, 0.773962,0.226038, maf-5-some-pop,maf-5-all-pops 735 chr21 19687758 19687933 rs869254496 0 + ATAACAAACCTGCACGTTGTGCACATGTACCGTAGAACTTAAAGTATAATAAAATATATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACACA ATAACAAACCTGCACGTTGTGCACATGTACCGTAGAACTTAAAGTATAATAAAATATATATATATAAAATAATAAACATGAGTCCTTTGCCACAGCTCAAGGTGGAGCTAGCTTTGATACTGAGTAAATGACGAGTTAGTGGGTGCAGCACACCAACATGGCACATGTATACACA lengthTooLong genomic in-del unknown 0 0 intron range 1 MixedObserved,ObservedTooLong 1 HUMANGENOME_JCVI, 0 735 chr21 19687758 19687758 rs60239843 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.298398 0.245271 intron between 1 MixedObserved 10 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,LUNTER,SSMP, 2 -,T, 914.000000,4094.000000, 0.182508,0.817492, maf-5-some-pop 735 chr21 19687759 19687760 rs371733472 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19687773 19687774 rs560529733 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19687780 19687781 rs111769623 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 4 1000GENOMES,BUSHMAN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 735 chr21 19687782 19687783 rs76487230 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.326741 0.23793 intron exact 1 5 1000GENOMES,ENSEMBL,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3978.000000,1030.000000, 0.794329,0.205671, maf-5-some-pop,maf-5-all-pops 735 chr21 19687789 19687790 rs79798227 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.324382 0.238678 intron exact 1 5 1000GENOMES,ENSEMBL,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1020.000000,3988.000000, 0.203674,0.796326, maf-5-some-pop,maf-5-all-pops 735 chr21 19687805 19687806 rs60764030 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.387074 0.209071 intron exact 1 5 1000GENOMES,EVA-GONL,HGSV,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,C, 3694.000000,1314.000000, 0.737620,0.262380, maf-5-some-pop,maf-5-all-pops 735 chr21 19687811 19687811 rs536861040 0 + - - -/AT genomic insertion by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron between 1 3 1000GENOMES,SSIP,SSMP, 2 -,AT, 4842.000000,166.000000, 0.966853,0.033147, maf-5-some-pop 735 chr21 19687864 19687865 rs9979507 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 5 1000GENOMES,EVA-GONL,HGSV,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 68.000000,4940.000000, 0.013578,0.986422, 735 chr21 19687866 19687867 rs9982987 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA-GONL,HGSV,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 66.000000,4942.000000, 0.013179,0.986821, 735 chr21 19687882 19687883 rs79086182 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 3 ENSEMBL,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19687889 19687890 rs57816523 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19687896 19687897 rs9979516 0 + G G A/G genomic single by-cluster,by-hapmap 0.375 0.216506 intron exact 1 5 CSHL-HAPMAP,ENSEMBL,HGSV,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3.000000,1.000000, 0.750000,0.250000, 735 chr21 19687913 19687914 rs78703238 0 + A A A/G genomic single by-cluster 0.5 0 intron exact 1 3 ENSEMBL,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19687933 19687934 rs111863632 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 4.000000, 1.000000, 735 chr21 19687934 19687935 rs71319680 0 + A A A/G genomic single by-cluster,by-frequency 0.5 0 intron exact 1 4 ENSEMBL,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 735 chr21 19687948 19687949 rs553358565 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19687955 19687956 rs78079954 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19687956 19687957 rs148139458 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 735 chr21 19687958 19687959 rs71319681 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 intron exact 1 5 1000GENOMES,ENSEMBL,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4812.000000,196.000000, 0.960863,0.039137, 735 chr21 19687965 19687966 rs71319682 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 intron exact 1 6 1000GENOMES,ENSEMBL,EVA-GONL,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 C,G, 2.000000,2.000000, 0.500000,0.500000, 735 chr21 19687981 19687982 rs2406175 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.410737 0.191478 intron exact 1 7 1000GENOMES,DDI,EVA-GONL,GMI,HGSV,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 3562.000000,1446.000000, 0.711262,0.288738, maf-5-some-pop,maf-5-all-pops 735 chr21 19687987 19687987 rs373298185 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 3 LUNTER,SSIP,SSMP, 0 735 chr21 19687988 19687988 rs71318137 0 + - - -/AT/TA genomic insertion by-cluster 0.5 0 intron between 1 InconsistentAlleles 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI, 2 -,TA, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19687989 19687989 rs748257566 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19688027 19688028 rs575875602 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19688040 19688041 rs13046109 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 SSAHASNP,WEILL_CORNELL_DGM, 0 735 chr21 19688042 19688043 rs13050432 0 + T T C/T genomic single by-cluster,by-2hit-2allele 0 0 intron exact 1 2 SSAHASNP,WEILL_CORNELL_DGM, 0 735 chr21 19688058 19688059 rs71319683 0 + T T C/T genomic single by-cluster,by-frequency 0.5 0 intron exact 1 4 ENSEMBL,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 735 chr21 19688065 19688066 rs536962110 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.348354 0.22984 intron exact 1 1 1000GENOMES, 2 -,C, 1125.000000,3883.000000, 0.224641,0.775359, maf-5-some-pop,maf-5-all-pops 735 chr21 19688070 19688071 rs542796781 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19688072 19688073 rs71319684 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.388775 0.207946 intron exact 1 7 1000GENOMES,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 1323.000000,3685.000000, 0.264177,0.735823, maf-5-some-pop,maf-5-all-pops 735 chr21 19688089 19688090 rs71319685 0 + A A A/G genomic single by-cluster,by-frequency 0.5 0 intron exact 1 5 ENSEMBL,EVA-GONL,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 735 chr21 19688118 19688119 rs573372509 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19688124 19688125 rs77154296 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 ENSEMBL,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19688125 19688126 rs78331124 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 75.000000,4933.000000, 0.014976,0.985024, maf-5-some-pop 735 chr21 19688131 19688132 rs71319686 0 + C C C/T genomic single by-cluster,by-frequency 0.5 0 intron exact 1 7 DDI,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 735 chr21 19688141 19688142 rs558880943 0 + C C C/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 735 chr21 19688172 19688173 rs3859709 0 - C C A/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,SC_JCM,SC_SNP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 735 chr21 19688205 19688206 rs145578518 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 735 chr21 19688209 19688210 rs538722128 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,C, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19688218 19688219 rs190956335 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19688220 19688221 rs76200728 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 ENSEMBL,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19688223 19688224 rs76858208 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19688265 19688266 rs181373483 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19688302 19688303 rs148450826 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA-GONL,GMI,WEILL_CORNELL_DGM, 0 735 chr21 19688312 19688313 rs142706414 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19688341 19688343 rs5842681 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.161267 0.233723 intron range 1 MixedObserved 8 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA_GENOME_DK,GMI,LUNTER,SSMP, 2 -,AT, 4565.000000,443.000000, 0.911542,0.088459, maf-5-some-pop 735 chr21 19688341 19688345 rs780927862 0 + ATAT ATAT -/ATAT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19688343 19688345 rs777687240 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19688356 19688358 rs3077991 0 + TA TA -/TA genomic deletion by-cluster 0 0 intron range 1 SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 735 chr21 19688358 19688359 rs11909781 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.021333 0.101051 intron exact 1 6 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,JMKIDD_LAB,SSAHASNP, 2 A,T, 4954.000000,54.000000, 0.989217,0.010783, 735 chr21 19688371 19688372 rs558228049 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19688373 19688374 rs530732549 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19688441 19688442 rs191382199 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19688488 19688489 rs561067332 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19688565 19688566 rs754186275 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19688568 19688569 rs183134390 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19688573 19688574 rs79995561 0 + C C C/T genomic single by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4958.000000,50.000000, 0.990016,0.009984, 735 chr21 19688586 19688587 rs571697045 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19688587 19688588 rs539001690 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19688588 19688589 rs550732313 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19688603 19688604 rs569498648 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19688628 19688629 rs536568924 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19688648 19688649 rs554694960 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19688664 19688665 rs773252830 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19688680 19688681 rs151002321 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19688768 19688769 rs76911250 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 5 1000GENOMES,BGI,EVA-GONL,GMI,SSMP, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19688779 19688780 rs553026730 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19688785 19688786 rs57837813 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.481165 0.095199 intron exact 1 22 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2990.000000,2018.000000, 0.597045,0.402955, maf-5-some-pop,maf-5-all-pops 735 chr21 19688809 19688810 rs187773788 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19688819 19688820 rs145911151 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.193966 0.243639 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 545.000000,4463.000000, 0.108826,0.891174, maf-5-some-pop 735 chr21 19688828 19688829 rs544957131 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19688839 19688840 rs747061311 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19688843 19688844 rs563161760 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19688849 19688850 rs140802776 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19688854 19688855 rs189729391 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19688855 19688856 rs561207992 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19688917 19688918 rs372537892 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19688935 19688936 rs543287675 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19688938 19688939 rs563201177 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19688948 19688949 rs528292761 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19688952 19688953 rs546844124 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19688958 19688959 rs781292228 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19688983 19688984 rs749043035 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19688984 19688985 rs565364615 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689009 19689010 rs9977229 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.245631 0.249962 intron exact 1 22 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 718.000000,4290.000000, 0.143371,0.856629, maf-5-some-pop 735 chr21 19689018 19689019 rs545462232 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19689026 19689027 rs144571575 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 40.000000,4968.000000, 0.007987,0.992013, 735 chr21 19689032 19689033 rs553313762 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19689038 19689039 rs569158980 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689081 19689082 rs2824733 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.235854 0.249599 intron exact 1 21 1000GENOMES,BCMHGSC_JDW,CHURCH_CG54K,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 684.000000,4324.000000, 0.136581,0.863419, maf-5-some-pop,maf-5-all-pops 735 chr21 19689092 19689093 rs117042272 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 735 chr21 19689108 19689109 rs775009672 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19689109 19689110 rs371661918 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 735 chr21 19689110 19689111 rs566868562 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689133 19689134 rs772783010 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19689160 19689161 rs2824734 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.47023 0.118317 intron exact 1 29 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3115.000000,1893.000000, 0.622005,0.377995, maf-5-some-pop,maf-5-all-pops 735 chr21 19689178 19689179 rs558903347 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19689206 19689207 rs182341590 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19689212 19689213 rs868208671 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19689217 19689218 rs146662741 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689235 19689236 rs556876942 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19689247 19689248 rs575303302 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689279 19689280 rs542692130 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19689284 19689285 rs554882622 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19689313 19689314 rs140303846 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,G, 43.000000,4965.000000, 0.008586,0.991414, 735 chr21 19689319 19689320 rs187714269 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19689344 19689345 rs150322580 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19689369 19689370 rs564953745 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689378 19689379 rs62213422 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.265727 0.249505 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4218.000000,790.000000, 0.842252,0.157748, maf-5-some-pop,maf-5-all-pops 735 chr21 19689386 19689387 rs192538781 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19689399 19689400 rs80199894 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 3 1000GENOMES,SSMP,TISHKOFF, 2 C,T, 66.000000,4942.000000, 0.013179,0.986821, 735 chr21 19689404 19689405 rs530030669 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19689412 19689413 rs80073337 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19689477 19689478 rs566792742 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689479 19689480 rs765751852 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19689527 19689528 rs185284056 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19689565 19689566 rs369520115 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19689583 19689584 rs188546198 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19689584 19689585 rs867997505 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19689591 19689592 rs138294122 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19689614 19689615 rs750959001 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19689631 19689632 rs143455987 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0.11228 0.208646 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,T, 299.000000,4709.000000, 0.059705,0.940296, 735 chr21 19689657 19689658 rs549642865 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19689701 19689702 rs149180332 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19689751 19689752 rs143394123 0 + G G C/G genomic single by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 1 1000GENOMES, 2 C,G, 32.000000,4976.000000, 0.006390,0.993610, 735 chr21 19689765 19689766 rs139316684 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689775 19689776 rs536238221 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19689784 19689785 rs569662719 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19689792 19689793 rs573144932 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19689862 19689863 rs766808109 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19689901 19689902 rs751607516 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19689910 19689911 rs192885306 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19689944 19689945 rs546225358 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19689962 19689963 rs576952386 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 735 chr21 19689969 19689970 rs756623047 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19689999 19690000 rs2824735 0 + T T C/T genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 T, 418.000000, 1.000000, 735 chr21 19690010 19690011 rs764570017 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19690046 19690047 rs62213423 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19690049 19690050 rs62213424 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19690072 19690082 rs748910194 0 + TCCCATCCCA TCCCATCCCA -/TCCCATCCCA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690072 19690077 rs752539477 0 + TCCCA TCCCA -/TCCCA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_GENOME_DK, 0 735 chr21 19690077 19690078 rs538555525 0 + T T C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA-GONL, 0 735 chr21 19690077 19690082 rs771049168 0 + TCCCA TCCCA -/TCCCA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690115 19690117 rs777719618 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 735 chr21 19690118 19690126 rs746890708 0 + CCCATCCC CCCATCCC -/CCCATCCC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 735 chr21 19690120 19690121 rs9981260 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 3 HUMANGENOME_JCVI,SSMP,WUGSC_SSAHASNP, 1 T, 2.000000, 1.000000, 735 chr21 19690120 19690122 rs544895531 0 + CA CA -/CA genomic deletion unknown 0 0 intron range 1 MixedObserved 2 EVA_GENOME_DK,HGSV, 0 735 chr21 19690121 19690122 rs551709276 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19690123 19690126 rs58179749 0 + CCC CCC -/CCC genomic deletion unknown 0 0 intron range 1 MixedObserved 2 EVA_GENOME_DK,HGSV, 0 735 chr21 19690123 19690124 rs781454743 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690125 19690126 rs28555397 0 + C C C/T genomic single by-cluster,by-1000genomes 0.244898 0.249948 intron exact 1 12 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,SSAHASNP,SSMP, 2 C,T, 1.000000,6.000000, 0.142857,0.857143, 735 chr21 19690128 19690129 rs376433487 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 735 chr21 19690135 19690136 rs369231192 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19690138 19690139 rs371571529 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19690140 19690141 rs9974961 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 735 chr21 19690143 19690144 rs376608483 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19690145 19690146 rs369574659 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19690150 19690151 rs374033466 0 + T T C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 735 chr21 19690153 19690154 rs62213425 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19690158 19690159 rs867402747 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19690160 19690161 rs62213426 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19690163 19690164 rs62213427 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19690172 19690173 rs184894587 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19690174 19690174 rs71189596 0 + - - -/CCATCCCATCCCATCCCATCCCATC genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 CCATCCCATCCCATCCCATCCCATC, 2.000000, 1.000000, 735 chr21 19690210 19690225 rs60306073 0 + CATCCCATCCCATCC CATCCCATCCCATCC -/CATCCCATCCCATCC genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 735 chr21 19690211 19690226 rs201535589 0 + ATCCCATCCCATCCT ATCCCATCCCATCCT -/ATCCCATCCCATCCT genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 735 chr21 19690217 19690218 rs553479198 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 5 1000GENOMES,DDI,EVA-GONL,SSIP,WEILL_CORNELL_DGM, 2 C,T, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 735 chr21 19690220 19690221 rs867364503 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19690305 19690306 rs757042579 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690306 19690307 rs11700619 0 + T T G/T genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 735 chr21 19690313 19690314 rs530151908 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19690330 19690331 rs77420394 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 62.000000,4946.000000, 0.012380,0.987620, 735 chr21 19690357 19690358 rs745679214 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690426 19690427 rs62213428 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19690477 19690478 rs560119368 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19690488 19690489 rs369855537 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19690506 19690507 rs4143364 0 - C C A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.283158 0.247791 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 855.000000,4153.000000, 0.170727,0.829273, maf-5-some-pop 735 chr21 19690507 19690508 rs552586655 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19690536 19690537 rs536892094 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19690593 19690594 rs571171213 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19690605 19690606 rs779891248 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690608 19690609 rs746493667 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690610 19690611 rs866637757 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19690611 19690612 rs531791292 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19690693 19690694 rs150631028 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 4 1000GENOMES,EVA-GONL,JMKIDD_LAB,SSMP, 2 C,G, 4963.000000,45.000000, 0.991014,0.008986, 735 chr21 19690706 19690707 rs78951134 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.030689 0.120156 intron exact 1 SingleClassTriAllelic 4 1000GENOMES,JMKIDD_LAB,SSMP,TISHKOFF, 3 A,G,T, 4930.000000,74.000000,4.000000, 0.984425,0.014776,0.000799, 735 chr21 19690715 19690716 rs560065397 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19690720 19690721 rs554557146 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19690726 19690730 rs773940851 0 + AAAT AAAT -/AAAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19690735 19690736 rs28533761 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.029116 0.117091 intron exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,WEILL_CORNELL_DGM, 2 A,C, 4934.000000,74.000000, 0.985224,0.014776, 735 chr21 19690752 19690753 rs373912100 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19690761 19690762 rs139149586 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19690776 19690777 rs558569036 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19690777 19690778 rs56243729 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,HGSV, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19690789 19690790 rs8130250 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.383632 0.211288 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1296.000000,3712.000000, 0.258786,0.741214, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19690820 19690821 rs149923963 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19690838 19690839 rs768624064 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19690868 19690869 rs146035302 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19690890 19690891 rs111847317 0 + A A A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19691039 19691040 rs565256840 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19691040 19691041 rs766870072 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19691043 19691044 rs752046150 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19691047 19691048 rs541930913 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19691051 19691052 rs560256346 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19691077 19691078 rs61242017 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.473818 0.111381 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3077.000000,1931.000000, 0.614417,0.385583, maf-5-some-pop,maf-5-all-pops 735 chr21 19691082 19691083 rs112681977 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19691094 19691095 rs74845000 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB, 2 A,T, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 735 chr21 19691119 19691120 rs752776752 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19691130 19691131 rs115277127 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.029116 0.117091 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,T, 74.000000,4934.000000, 0.014776,0.985224, maf-5-some-pop 735 chr21 19691173 19691174 rs756268530 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19691214 19691215 rs139990080 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19691242 19691243 rs777990120 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19691314 19691315 rs143459969 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 65.000000,4943.000000, 0.012979,0.987021, 735 chr21 19691378 19691379 rs562268609 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19691380 19691381 rs529772695 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19691417 19691418 rs146679078 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19691456 19691457 rs561255207 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19691473 19691474 rs566616949 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19691487 19691488 rs9978427 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.206336 0.246157 intron exact 1 18 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 585.000000,4423.000000, 0.116813,0.883187, maf-5-some-pop 735 chr21 19691496 19691497 rs552182354 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19691572 19691573 rs368409175 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19691590 19691591 rs549606059 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19691612 19691613 rs538148884 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19691637 19691638 rs377419438 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19691677 19691678 rs370544349 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19691678 19691679 rs188635711 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19691688 19691689 rs574285760 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19691709 19691710 rs868646535 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19691726 19691729 rs72042094 0 + TCT TCT -/TCT genomic deletion by-cluster,by-frequency,by-1000genomes 0.491987 0.062789 intron range 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,TCT, 2187.000000,2821.000000, 0.436701,0.563299, maf-5-some-pop,maf-5-all-pops 735 chr21 19691727 19691730 rs770540083 0 + CTT CTT -/CTT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19691729 19691731 rs773901934 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 EVA_DECODE, 0 735 chr21 19691729 19691730 rs866633451 0 + T T C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 ILLUMINA, 0 735 chr21 19691731 19691733 rs199982105 0 + TT TT -/TT genomic deletion by-1000genomes 0 0 intron range 1 MixedObserved 1 1000GENOMES, 0 735 chr21 19691731 19691732 rs201909509 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19691732 19691733 rs200017772 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19691761 19691762 rs35796863 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19691767 19691769 rs759037934 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19691813 19691814 rs180722982 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 735 chr21 19691823 19691824 rs564616526 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 -,A, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19691831 19691832 rs183649152 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 735 chr21 19691838 19691839 rs572536706 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19691907 19691908 rs545845312 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19691933 19691934 rs372775134 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19691936 19691937 rs564526278 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19691945 19691946 rs189311325 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19691973 19691974 rs768211372 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19691991 19691992 rs754342861 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19691997 19691998 rs544135454 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 735 chr21 19692017 19692018 rs374712343 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19692034 19692035 rs780785832 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19692037 19692038 rs762429376 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19692039 19692040 rs140229265 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19692041 19692042 rs529505644 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19692061 19692062 rs765653747 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19692105 19692106 rs750855383 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19692108 19692109 rs747676438 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19692149 19692150 rs722682 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498009 0.031487 intron exact 1 30 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2346.000000,2662.000000, 0.468450,0.531550, maf-5-some-pop,maf-5-all-pops 735 chr21 19692164 19692165 rs528100962 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19692188 19692193 rs548262967 0 + TACTT TACTT -/TACTT genomic deletion by-cluster 0 0 intron range 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19692214 19692215 rs773031629 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19692222 19692223 rs142567489 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19692231 19692232 rs558778901 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19692329 19692330 rs568099842 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19692340 19692341 rs527394399 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19692341 19692342 rs182296958 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19692348 19692349 rs751652537 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19692381 19692382 rs771257592 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19692407 19692408 rs537150783 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19692430 19692431 rs537490870 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19692441 19692442 rs549663421 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19692471 19692472 rs774917533 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19692488 19692489 rs754946275 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19692509 19692510 rs755206551 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19692521 19692522 rs186898841 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19692535 19692536 rs535256399 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19692547 19692548 rs781262196 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19692548 19692549 rs55941767 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.478768 0.100824 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1988.000000,3020.000000, 0.396965,0.603035, maf-5-some-pop,maf-5-all-pops 735 chr21 19692571 19692572 rs9979312 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.492871 0.059277 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2205.000000,2803.000000, 0.440296,0.559704, maf-5-some-pop,maf-5-all-pops 735 chr21 19692597 19692598 rs371792770 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19692605 19692606 rs539306803 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19692615 19692616 rs573274096 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19692622 19692623 rs150944789 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19692623 19692624 rs557826092 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19692697 19692698 rs2824736 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.498503 0.027315 intron exact 1 25 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2367.000000,2641.000000, 0.472644,0.527356, maf-5-some-pop,maf-5-all-pops 735 chr21 19692739 19692740 rs141054548 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19692740 19692741 rs769691050 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19692748 19692749 rs60248332 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 3 1000GENOMES,HGSV,JMKIDD_LAB, 2 C,T, 4951.000000,57.000000, 0.988618,0.011382, 735 chr21 19692855 19692856 rs574418261 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19692893 19692894 rs770616022 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19692950 19692951 rs541602182 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19693048 19693049 rs139224210 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,T, 19.000000,4989.000000, 0.003794,0.996206, 735 chr21 19693051 19693052 rs527357983 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19693055 19693056 rs141910146 0 + A A A/C genomic single by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4958.000000,50.000000, 0.990016,0.009984, 735 chr21 19693080 19693081 rs2824737 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.48978 0.070751 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2146.000000,2862.000000, 0.428514,0.571486, maf-5-some-pop,maf-5-all-pops 735 chr21 19693081 19693082 rs541994521 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19693083 19693084 rs549399796 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19693123 19693124 rs867723592 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19693161 19693162 rs147112400 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 735 chr21 19693212 19693212 rs555037647 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 735 chr21 19693221 19693222 rs75775770 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.049812 0.149749 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4880.000000,128.000000, 0.974441,0.025559, maf-5-some-pop 735 chr21 19693230 19693231 rs74721289 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19693298 19693299 rs2824738 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.48491 0.08554 intron exact 1 29 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2069.000000,2939.000000, 0.413139,0.586861, maf-5-some-pop,maf-5-all-pops 735 chr21 19693305 19693306 rs771663118 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19693316 19693317 rs138307329 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19693322 19693323 rs775167966 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19693401 19693402 rs10154181 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.282632 0.247861 intron exact 1 21 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4155.000000,853.000000, 0.829673,0.170327, maf-5-some-pop,maf-5-all-pops 735 chr21 19693428 19693429 rs57412874 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.211212 0.246973 intron exact 1 13 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 601.000000,4407.000000, 0.120008,0.879992, maf-5-some-pop 735 chr21 19693429 19693430 rs796146542 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19693440 19693441 rs747623567 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19693454 19693455 rs149550814 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,EVA-GONL,ILLUMINA,WEILL_CORNELL_DGM, 2 C,G, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19693463 19693464 rs12483073 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.347032 0.230401 intron exact 1 23 1000GENOMES,ABI,AFFY,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1119.000000,3889.000000, 0.223442,0.776558, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19693476 19693477 rs777545514 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19693478 19693479 rs866313411 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19693506 19693507 rs555812006 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19693514 19693514 rs371580534 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 735 chr21 19693559 19693560 rs371433141 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,TISHKOFF, 0 735 chr21 19693603 19693603 rs112546154 0 + - - -/C genomic insertion unknown 0.5 0 intron between 1 1 BUSHMAN, 2 -,C, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19693662 19693662 rs763293354 0 + - - -/CTT genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19693665 19693666 rs866575767 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19693666 19693666 rs751011766 0 + - - -/TTT genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 735 chr21 19693667 19693667 rs35081352 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 ABI,HUMANGENOME_JCVI,PJP, 1 T, 2.000000, 1.000000, 735 chr21 19693668 19693669 rs868715179 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19693725 19693726 rs376498294 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19693729 19693730 rs528077913 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19693745 19693746 rs3787581 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.464416 0.128553 intron exact 1 16 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1836.000000,3172.000000, 0.366613,0.633387, maf-5-some-pop,maf-5-all-pops 735 chr21 19693790 19693791 rs751673466 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19693795 19693796 rs553432683 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19693799 19693800 rs578124027 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19693817 19693818 rs545302990 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19693822 19693823 rs191697380 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 735 chr21 19693826 19693827 rs148316299 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 75.000000,4933.000000, 0.014976,0.985024, 735 chr21 19693830 19693831 rs3787582 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.141934 0.225437 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 385.000000,4623.000000, 0.076877,0.923123, maf-5-some-pop 735 chr21 19693835 19693836 rs774519771 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19693846 19693847 rs752825624 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19693861 19693862 rs3787583 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.2776 0.248472 intron exact 1 16 1000GENOMES,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 834.000000,4174.000000, 0.166534,0.833466, maf-5-some-pop,maf-5-all-pops 735 chr21 19693890 19693891 rs570249904 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19693910 19693911 rs529110503 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19693913 19693914 rs772525281 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19693914 19693915 rs3787584 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.2768 0.248559 intron exact 1 15 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 G,T, 4177.000000,831.000000, 0.834065,0.165935, maf-5-some-pop,maf-5-all-pops 735 chr21 19693946 19693947 rs760718310 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19693947 19693948 rs565882166 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19693965 19693966 rs533126126 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19693974 19693975 rs559201209 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19693995 19693996 rs2824739 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.480302 0.097267 intron exact 1 23 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,C, 2007.000000,3001.000000, 0.400759,0.599241, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19694019 19694020 rs865915317 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19694027 19694028 rs756948129 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19694031 19694032 rs776912161 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19694037 19694038 rs570128316 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19694050 19694051 rs111720693 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19694089 19694090 rs867800749 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19694133 19694134 rs537562307 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19694135 19694136 rs549358881 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19694136 19694137 rs182061590 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19694137 19694138 rs534758473 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19694147 19694148 rs553611194 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19694148 19694149 rs13049075 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19694229 19694230 rs185559830 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19694286 19694287 rs190271961 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19694312 19694313 rs2824740 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.48955 0.071525 intron exact 1 MixedObserved 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2142.000000,2866.000000, 0.427716,0.572284, maf-5-some-pop,maf-5-all-pops 735 chr21 19694312 19694323 rs386816756 0 + CATACATTACA CATACATTACA CATACATTACA/TATACATTACT genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 735 chr21 19694322 19694323 rs139917435 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 4 1000GENOMES,EVA-GONL,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,T, 4971.000000,37.000000, 0.992612,0.007388, 735 chr21 19694401 19694402 rs2824741 0 + C C C/G genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 C, 418.000000, 1.000000, 735 chr21 19694407 19694408 rs555276911 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19694408 19694409 rs370204192 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19694414 19694415 rs751266144 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19694455 19694456 rs374363233 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19694514 19694515 rs561486056 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19694531 19694532 rs573298916 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19694564 19694565 rs9974453 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.487684 0.077502 intron exact 1 22 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2111.000000,2897.000000, 0.421526,0.578474, maf-5-some-pop,maf-5-all-pops 735 chr21 19694588 19694589 rs767531946 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19694654 19694655 rs543495224 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19694659 19694660 rs775115068 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19694676 19694677 rs143524772 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19694710 19694711 rs533089052 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19694721 19694722 rs540625700 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19694746 19694747 rs146260321 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 54.000000,4954.000000, 0.010783,0.989217, 735 chr21 19694748 19694749 rs563475340 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19694751 19694752 rs530769359 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19694758 19694759 rs371682077 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19694789 19694790 rs549498475 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19694790 19694791 rs182092568 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19694844 19694845 rs746572950 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19694878 19694879 rs375109433 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19694940 19694941 rs748842479 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19694955 19694956 rs535003892 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19694961 19694962 rs546693879 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19694991 19694992 rs368286278 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19694997 19694998 rs571882421 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19695005 19695006 rs538967716 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19695006 19695007 rs561762898 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19695038 19695039 rs13052987 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19695047 19695048 rs557093172 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19695049 19695050 rs372029900 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19695064 19695065 rs13052998 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19695093 19695094 rs139038709 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19695098 19695099 rs778655858 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19695142 19695143 rs149870365 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA-GONL,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 735 chr21 19695245 19695246 rs79673747 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05246 0.153226 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4873.000000,135.000000, 0.973043,0.026957, maf-5-some-pop 735 chr21 19695246 19695247 rs545718752 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19695260 19695261 rs724128 0 - G G A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.425277 0.178263 intron exact 1 29 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1536.000000,3472.000000, 0.306709,0.693291, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19695272 19695273 rs528325896 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19695286 19695287 rs185506974 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19695314 19695315 rs766603648 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19695330 19695331 rs191010698 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19695347 19695348 rs184045462 0 + A A A/C/G genomic single by-frequency,by-1000genomes 0.003987 0.0445 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,G, 4998.000000,7.000000,3.000000, 0.998003,0.001398,0.000599, 735 chr21 19695355 19695356 rs144954415 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19695389 19695390 rs115240958 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4949.000000,59.000000, 0.988219,0.011781, 735 chr21 19695392 19695393 rs769159286 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19695399 19695400 rs561332516 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19695415 19695416 rs149067766 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19695424 19695425 rs370224351 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19695431 19695436 rs547286238 0 + TTCTC TTCTC -/TTCTC genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 intron range 1 1 1000GENOMES, 2 -,TTCTC, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19695434 19695435 rs546928167 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19695495 19695496 rs754158956 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19695504 19695505 rs571560831 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19695511 19695512 rs144281300 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19695530 19695531 rs550857617 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19695556 19695557 rs569236761 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19695560 19695561 rs536431951 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19695599 19695600 rs188578244 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19695606 19695607 rs765338637 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19695612 19695613 rs567323863 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19695617 19695618 rs113707577 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19695644 19695650 rs765340335 0 + TCATAA TCATAA -/TCATAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19695680 19695681 rs9305861 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 intron exact 1 9 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 103.000000,4905.000000, 0.020567,0.979433, maf-5-some-pop 735 chr21 19695686 19695687 rs372457776 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19695696 19695697 rs759383072 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19695723 19695724 rs531572830 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19695729 19695730 rs545052114 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19695799 19695800 rs7282954 0 + T T A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.463149 0.137791 intron exact 1 SingleClassTriAllelic 25 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 3 A,G,T, 14.000000,3202.000000,1792.000000, 0.002796,0.639377,0.357827, maf-5-some-pop,maf-5-all-pops 735 chr21 19695832 19695833 rs369066995 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19695847 19695848 rs141710308 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19695864 19695865 rs561067140 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19695868 19695869 rs760632022 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19695872 19695873 rs562060434 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19695911 19695913 rs201980318 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron range 1 3 1000GENOMES,EVA-GONL,HAMMER_LAB, 2 -,TG, 37.000000,4971.000000, 0.007388,0.992612, 735 chr21 19695912 19695914 rs367594060 0 + GT GT -/GT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 735 chr21 19695960 19695961 rs576622743 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,T, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19695966 19695967 rs528546950 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19695967 19695968 rs540362675 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19696019 19696020 rs147115430 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19696048 19696049 rs757254029 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19696078 19696079 rs192849318 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19696083 19696084 rs753245706 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696222 19696223 rs373862845 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19696226 19696227 rs550595601 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19696276 19696277 rs2824742 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.300421 0.244863 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4086.000000,922.000000, 0.815895,0.184105, maf-5-some-pop,maf-5-all-pops 735 chr21 19696286 19696287 rs778404028 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696299 19696300 rs530346708 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19696300 19696301 rs750130988 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696334 19696335 rs183737476 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19696361 19696362 rs566959625 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19696362 19696363 rs758752999 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696438 19696439 rs547375655 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19696474 19696475 rs780333946 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696487 19696488 rs534454106 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19696544 19696545 rs747391255 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696569 19696570 rs552774050 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19696581 19696582 rs374505011 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19696583 19696584 rs571357066 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19696641 19696642 rs538606466 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19696663 19696664 rs147738361 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19696682 19696683 rs575563395 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19696696 19696697 rs745721152 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19696713 19696714 rs768998818 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696718 19696719 rs865934616 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19696729 19696730 rs186860332 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19696763 19696764 rs866548801 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19696821 19696822 rs191869356 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19696833 19696834 rs781739318 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19696864 19696865 rs183591348 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19696865 19696866 rs2824743 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.294576 0.245994 intron exact 1 22 1000GENOMES,AFFY,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 899.000000,4109.000000, 0.179513,0.820487, maf-5-some-pop,maf-5-all-pops 735 chr21 19696900 19696901 rs540448739 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19696955 19696956 rs565219020 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19696997 19696998 rs1474825 0 - A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.487558 0.077886 intron exact 1 27 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 2899.000000,2109.000000, 0.578874,0.421126, maf-5-some-pop,maf-5-all-pops 735 chr21 19697014 19697015 rs1474824 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.487432 0.07827 intron exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2901.000000,2107.000000, 0.579273,0.420727, maf-5-some-pop,maf-5-all-pops 735 chr21 19697032 19697033 rs562544307 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19697050 19697051 rs1474823 0 - A A C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.487495 0.078078 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2900.000000,2108.000000, 0.579073,0.420927, maf-5-some-pop,maf-5-all-pops 735 chr21 19697052 19697053 rs548461882 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19697089 19697090 rs538479958 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19697114 19697115 rs78840293 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB, 2 A,C, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 735 chr21 19697133 19697134 rs775374997 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697206 19697207 rs568746447 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19697233 19697234 rs760575185 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697237 19697238 rs527867185 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19697242 19697243 rs1474822 0 - A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.372189 0.218105 intron exact 1 19 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 1238.000000,3770.000000, 0.247204,0.752796, maf-5-some-pop,maf-5-all-pops 735 chr21 19697291 19697292 rs571229065 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19697312 19697313 rs538740221 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19697336 19697337 rs140945202 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 5 1000GENOMES,EVA-GONL,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4969.000000,39.000000, 0.992212,0.007788, 735 chr21 19697339 19697340 rs568862027 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19697375 19697376 rs536301132 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19697386 19697387 rs554545096 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19697387 19697388 rs188285064 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19697389 19697391 rs150514804 0 + CA CA -/CA genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 DuplicateObserved 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 0 735 chr21 19697389 19697389 rs540954587 0 + - - -/CA genomic insertion by-cluster 0 0 intron between 1 DuplicateObserved 2 EVA_GENOME_DK,SSIP, 0 735 chr21 19697391 19697392 rs867113128 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 735 chr21 19697391 19697391 rs745597399 0 + - - -/CA genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697401 19697402 rs557023541 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19697407 19697408 rs990213 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.42648 0.177073 intron exact 1 20 1000GENOMES,ABI,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3404.000000,1517.000000, 0.691729,0.308271, maf-5-some-pop,maf-5-all-pops 735 chr21 19697408 19697408 rs372933208 0 + - - -/ACAT/AT genomic insertion by-cluster,by-frequency,by-1000genomes 0.048866 0.14978 intron between 1 2 1000GENOMES,LUNTER, 3 -,ACAT,AT, 3404.000000,27.000000,60.000000, 0.975079,0.007734,0.017187, 735 chr21 19697456 19697459 rs143733199 0 + TTC TTC -/TTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron range 1 2 1000GENOMES,LUNTER, 2 -,TTC, 59.000000,4949.000000, 0.011781,0.988219, 735 chr21 19697468 19697469 rs370236857 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19697470 19697471 rs761212484 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697496 19697497 rs530831566 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19697511 19697512 rs74672734 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 735 chr21 19697554 19697557 rs771517643 0 + ATT ATT -/ATT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19697556 19697557 rs562682341 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19697557 19697558 rs990214 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.438666 0.164028 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1627.000000,3381.000000, 0.324880,0.675120, maf-5-some-pop,maf-5-all-pops 735 chr21 19697637 19697638 rs114600298 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 2 A,G, 40.000000,4968.000000, 0.007987,0.992013, 735 chr21 19697643 19697644 rs552866246 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19697649 19697650 rs779705937 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697665 19697666 rs560591155 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19697680 19697681 rs751884826 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697708 19697709 rs193230393 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19697726 19697727 rs552447925 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19697742 19697743 rs564712714 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19697785 19697786 rs755411552 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697790 19697791 rs185437815 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19697812 19697813 rs556736751 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19697831 19697832 rs371913938 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19697841 19697842 rs550693521 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19697842 19697843 rs867567250 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19697853 19697854 rs58841731 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 7 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4943.000000,65.000000, 0.987021,0.012979, 735 chr21 19697857 19697858 rs542008874 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19697864 19697865 rs536238065 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19697870 19697871 rs548183742 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19697906 19697907 rs150202278 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19697913 19697914 rs748748290 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19697929 19697930 rs534093690 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19697930 19697931 rs558424292 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19697931 19697932 rs576616507 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19697942 19697943 rs376491401 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19697948 19697949 rs73194620 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.367913 0.220446 intron exact 1 13 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1217.000000,3791.000000, 0.243011,0.756989, maf-5-some-pop,maf-5-all-pops 735 chr21 19697949 19697950 rs556225914 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698004 19698005 rs777941735 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698013 19698014 rs561992899 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,HAMMER_LAB, 0 735 chr21 19698017 19698018 rs749401070 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698030 19698031 rs190689060 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698070 19698071 rs541832334 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698071 19698072 rs138700090 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19698099 19698100 rs73194625 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.371785 0.218331 intron exact 1 15 1000GENOMES,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3772.000000,1236.000000, 0.753195,0.246805, maf-5-some-pop,maf-5-all-pops 735 chr21 19698163 19698164 rs774753112 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698178 19698179 rs572610364 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698190 19698191 rs760521677 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698192 19698193 rs181492966 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698193 19698194 rs113669906 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 735 chr21 19698209 19698210 rs186093733 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19698247 19698248 rs776424585 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698261 19698262 rs761739648 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698262 19698263 rs531921263 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698263 19698264 rs985824 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.459346 0.136653 intron exact 1 31 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3218.000000,1790.000000, 0.642572,0.357428, maf-5-some-pop,genotype-conflict 735 chr21 19698283 19698284 rs368737846 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19698305 19698306 rs562534714 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698314 19698315 rs371771106 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19698315 19698316 rs985825 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.025622 0.110247 intron exact 1 10 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,HGSV,JMKIDD_LAB,PERLEGEN,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4943.000000,65.000000, 0.987021,0.012979, 735 chr21 19698317 19698318 rs547829018 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698359 19698360 rs566469594 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19698370 19698371 rs371484364 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698403 19698404 rs532842225 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19698414 19698415 rs546690114 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19698422 19698423 rs772664261 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698451 19698452 rs762483591 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698462 19698463 rs552442103 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19698487 19698488 rs570449578 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19698492 19698493 rs537617520 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698493 19698494 rs753987805 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19698524 19698525 rs555964772 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698544 19698545 rs75037634 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 735 chr21 19698582 19698583 rs188676658 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698591 19698592 rs554015273 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698608 19698609 rs544141823 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19698617 19698618 rs376809929 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19698618 19698619 rs572401869 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698648 19698649 rs149389602 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19698657 19698658 rs115302437 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,TISHKOFF, 2 C,T, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 735 chr21 19698672 19698673 rs765273861 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19698686 19698687 rs576822592 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698693 19698694 rs544003035 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19698699 19698700 rs756179618 0 + T T C/T genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121393.000000, 0.000008,0.999992, 735 chr21 19698703 19698704 rs777740453 0 + T T C/T genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121399.000000, 0.000008,0.999992, 735 chr21 19698719 19698720 rs752627358 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19698722 19698723 rs754037023 0 + G G A/G genomic single by-frequency 0.000115 0.007592 intron exact 1 1 EVA_EXAC, 2 A,G, 7.000000,121401.000000, 0.000058,0.999942, 735 chr21 19698726 19698727 rs369417772 0 + T T A/T genomic single by-cluster,by-frequency 0.000115 0.007592 intron exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,T, 7.000000,121401.000000, 0.000058,0.999942, 735 chr21 19698741 19698742 rs779176480 0 + C C A/C genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121407.000000, 0.000008,0.999992, 735 chr21 19698743 19698744 rs201871970 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000066 0.005739 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126411.000000,5.000000, 0.999960,0.000040, 735 chr21 19698748 19698749 rs2273204 0 - C C A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.00232 0.03398 missense exact 1 9 1000GENOMES,AMU,EVA_EXAC,EVA_SVP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,PERLEGEN,YUSUKE, 2 A,G, 156.000000,126260.000000, 0.001234,0.998766, 735 chr21 19698751 19698752 rs780007428 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121407.000000, 0.000008,0.999992, 735 chr21 19698761 19698762 rs201108486 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000016 0.00287 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 2.000000,126412.000000, 0.000016,0.999984, 735 chr21 19698765 19698766 rs372486774 0 + T T C/T genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121405.000000, 0.000008,0.999992, 735 chr21 19698778 19698779 rs776018412 0 + A A A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 121405.000000,1.000000, 0.999992,0.000008, 735 chr21 19698779 19698780 rs149895112 0 + G G A/G genomic single by-cluster,by-frequency 0.000066 0.005739 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 4.000000,121404.000000, 0.000033,0.999967, 735 chr21 19698781 19698782 rs375750429 0 + T T C/T genomic single by-cluster,by-frequency 0.000099 0.007029 missense exact 1 3 EVA_DECODE,EVA_EXAC,NHLBI-ESP, 2 C,T, 6.000000,121402.000000, 0.000049,0.999951, 735 chr21 19698800 19698801 rs773048154 0 + T T C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121405.000000, 0.000008,0.999992, 735 chr21 19698809 19698810 rs759949776 0 + A A A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121407.000000,1.000000, 0.999992,0.000008, 735 chr21 19698811 19698812 rs767804740 0 + C C C/T genomic single by-frequency 0.000082 0.006417 missense exact 1 1 EVA_EXAC, 2 C,T, 121401.000000,5.000000, 0.999959,0.000041, 735 chr21 19698812 19698813 rs753203076 0 + G G A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121407.000000, 0.000008,0.999992, 735 chr21 19698813 19698814 rs560034944 0 + T T C/T genomic single by-1000genomes 0.000016 0.00287 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,126412.000000, 0.000016,0.999984, 735 chr21 19698821 19698821 rs776946971 0 + - - -/GA genomic insertion unknown 0.000016 0.00287 frameshift between 1 1 EVA_EXAC, 2 -,GA, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19698823 19698824 rs764172781 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121403.000000, 0.000008,0.999992, 735 chr21 19698827 19698829 rs759633123 0 + CA CA -/CA genomic deletion unknown 0.000016 0.00287 frameshift range 1 1 EVA_EXAC, 2 -,CA, 1.000000,121399.000000, 0.000008,0.999992, 735 chr21 19698829 19698833 rs764002040 0 + CAGT CAGT -/CAGT genomic deletion by-frequency 0.000049 0.004971 frameshift range 1 1 EVA_EXAC, 2 -,CAGT, 3.000000,121397.000000, 0.000025,0.999975, 735 chr21 19698840 19698841 rs753862883 0 + T T G/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121393.000000, 0.000008,0.999992, 735 chr21 19698846 19698847 rs757381504 0 + G G C/G genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 C,G, 2.000000,121388.000000, 0.000016,0.999984, 735 chr21 19698860 19698861 rs779081663 0 + C C C/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,G, 121377.000000,1.000000, 0.999992,0.000008, 735 chr21 19698863 19698864 rs750681969 0 + T T C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121371.000000, 0.000008,0.999992, 735 chr21 19698866 19698867 rs758146315 0 + T T C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121371.000000, 0.000008,0.999992, 735 chr21 19698874 19698875 rs779734141 0 + G G A/G genomic single unknown 0 0 missense exact 1 1 EVA_EXAC, 0 735 chr21 19698875 19698876 rs773989238 0 + C C -/C genomic deletion unknown 0.000016 0.00287 frameshift exact 1 1 EVA_EXAC, 2 -,C, 1.000000,121362.000000, 0.000008,0.999992, 735 chr21 19698891 19698892 rs369001319 0 + G G A/G genomic single by-cluster,by-frequency 0.000082 0.006419 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 5.000000,121309.000000, 0.000041,0.999959, 735 chr21 19698893 19698894 rs768481803 0 + T T A/T genomic single by-frequency 0.000033 0.00406 intron exact 1 1 EVA_EXAC, 2 A,T, 2.000000,121310.000000, 0.000016,0.999983, 735 chr21 19698897 19698898 rs200644703 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000561 0.016732 intron exact 1 8 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 126254.000000,36.000000, 0.999715,0.000285, 735 chr21 19698905 19698906 rs75388779 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016296 0.088784 intron exact 1 15 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,WEILL_CORNELL_DGM, 2 C,T, 125227.000000,1013.000000, 0.991976,0.008024, 735 chr21 19698906 19698907 rs374410143 0 + G G A/G genomic single by-cluster,by-frequency 0.000066 0.005744 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 4.000000,121212.000000, 0.000033,0.999967, 735 chr21 19698910 19698911 rs377160330 0 + T T G/T genomic single unknown 0.000154 0.008773 intron exact 1 1 NHLBI-ESP, 2 G,T, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19698912 19698913 rs772961927 0 + A A A/G genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,G, 121163.000000,1.000000, 0.999992,0.000008, 735 chr21 19698914 19698915 rs760410723 0 + C C C/T genomic single by-cluster,by-frequency 0.000182 0.009527 intron exact 1 5 DDI,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 121135.000000,11.000000, 0.999909,0.000091, 735 chr21 19698927 19698928 rs772427057 0 + C C C/T genomic single unknown 0.000017 0.002874 intron exact 1 1 EVA_EXAC, 2 C,T, 121061.000000,1.000000, 0.999992,0.000008, 735 chr21 19698930 19698931 rs775724255 0 + T T A/T genomic single unknown 0.000017 0.002875 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,121015.000000, 0.000008,0.999992, 735 chr21 19698932 19698933 rs778455710 0 + G G C/G genomic single unknown 0.000017 0.002876 intron exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,120929.000000, 0.000008,0.999992, 735 chr21 19698935 19698936 rs764498652 0 + C C C/T genomic single unknown 0.000017 0.002876 intron exact 1 1 EVA_EXAC, 2 C,T, 120885.000000,1.000000, 0.999992,0.000008, 735 chr21 19698936 19698937 rs370764503 0 + T T C/T genomic single by-cluster,by-frequency 0.000149 0.008628 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 9.000000,120849.000000, 0.000074,0.999926, 735 chr21 19698941 19698942 rs568452776 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19698951 19698952 rs531505919 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19698956 19698957 rs866953504 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19698989 19698990 rs549524349 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699001 19699002 rs181416326 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19699002 19699003 rs535339739 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19699017 19699018 rs779261448 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19699047 19699048 rs9982094 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 735 chr21 19699075 19699076 rs550512213 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19699094 19699095 rs566077479 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699104 19699105 rs780545511 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19699117 19699118 rs118001987 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19699121 19699122 rs772185294 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19699124 19699125 rs776433669 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19699136 19699137 rs115023459 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19699165 19699166 rs185259835 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19699204 19699205 rs79300982 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 4927.000000,81.000000, 0.983826,0.016174, maf-5-some-pop 735 chr21 19699231 19699232 rs556135284 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699233 19699234 rs190898811 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19699245 19699246 rs377235342 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19699275 19699276 rs747921345 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19699412 19699413 rs539517122 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19699447 19699448 rs769681632 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19699508 19699509 rs568631748 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19699509 19699510 rs773176506 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19699530 19699531 rs77389783 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19699565 19699566 rs762430238 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19699599 19699600 rs572069154 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699604 19699605 rs553468098 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699682 19699683 rs563748536 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19699743 19699744 rs73194628 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.356169 0.226336 intron exact 1 14 1000GENOMES,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1161.000000,3847.000000, 0.231829,0.768171, maf-5-some-pop,maf-5-all-pops 735 chr21 19699752 19699753 rs549663485 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699769 19699770 rs561864501 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19699853 19699854 rs529072316 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699872 19699873 rs182943750 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699896 19699897 rs138680241 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699906 19699907 rs150319097 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BL, 0 735 chr21 19699909 19699910 rs555691400 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19699918 19699919 rs548145285 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19699951 19699952 rs373039313 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19699963 19699964 rs746390166 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19699967 19699968 rs141693457 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19699976 19699977 rs539940824 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699977 19699978 rs187055651 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19699982 19699983 rs570055845 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19699987 19699988 rs570853165 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19700004 19700005 rs537489207 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700029 19700030 rs556073625 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700044 19700044 rs5842682 0 + - - -/T/TTTTTTG/TTTTTTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.49639 0.063207 intron between 1 InconsistentAlleles 14 1000GENOMES,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 3 -,TTTTTTG,TTTTTTT, 2209.000000,15.000000,2784.000000, 0.441094,0.002995,0.555911, rs-cluster-nonoverlapping-alleles 735 chr21 19700050 19700050 rs72550496 0 + - - -/G/T genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 3 1000GENOMES,BGI,EVA_GENOME_DK, 0 735 chr21 19700051 19700051 rs397758320 0 + - - -/T genomic insertion unknown 0 0 intron between 1 2 ABI,HGSV, 0 735 chr21 19700064 19700065 rs146279214 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 735 chr21 19700065 19700066 rs148472174 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19700107 19700108 rs553295294 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19700112 19700113 rs572066570 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19700117 19700118 rs772381532 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19700126 19700127 rs756474079 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19700139 19700140 rs556646460 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19700153 19700154 rs764675068 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19700172 19700173 rs192333899 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19700197 19700198 rs564035664 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19700225 19700226 rs545484314 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19700226 19700227 rs563888828 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19700239 19700240 rs757406256 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19700245 19700246 rs575613276 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19700259 19700260 rs543050463 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700283 19700284 rs577600466 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19700305 19700306 rs141777312 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19700350 19700351 rs150516270 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19700352 19700353 rs547520140 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19700354 19700355 rs559289626 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19700355 19700356 rs533200295 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700356 19700357 rs564049439 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19700393 19700393 rs34185085 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19700403 19700404 rs183240270 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19700410 19700411 rs745945558 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19700421 19700422 rs537425447 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19700474 19700475 rs549122791 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19700490 19700491 rs369817447 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19700509 19700510 rs1041805 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.486725 0.080381 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2912.000000,2096.000000, 0.581470,0.418530, maf-5-some-pop,maf-5-all-pops 735 chr21 19700522 19700523 rs532720402 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19700527 19700528 rs139459563 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700560 19700561 rs553669887 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19700583 19700585 rs528665945 0 + AG AG -/AG genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 735 chr21 19700592 19700593 rs571507748 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700630 19700631 rs538876769 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19700700 19700701 rs7281315 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.220843 0.248294 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 633.000000,4375.000000, 0.126398,0.873602, maf-5-some-pop 735 chr21 19700720 19700721 rs575749360 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19700724 19700725 rs747947045 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19700767 19700768 rs985327 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.263535 0.249633 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,CHURCH_CG54K,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4226.000000,782.000000, 0.843850,0.156150, maf-5-some-pop,maf-5-all-pops 735 chr21 19700768 19700769 rs116064097 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 735 chr21 19700780 19700781 rs573835769 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700783 19700784 rs187511702 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19700793 19700794 rs559646918 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700801 19700802 rs533137690 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19700807 19700808 rs773121239 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19700834 19700835 rs545257273 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19700865 19700866 rs144318029 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,T, 40.000000,4968.000000, 0.007987,0.992013, 735 chr21 19700889 19700890 rs59762739 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4951.000000,57.000000, 0.988618,0.011382, 735 chr21 19700945 19700946 rs140108327 0 + G G C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19700968 19700969 rs564078277 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19700976 19700977 rs373867844 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19701014 19701015 rs376239185 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701042 19701043 rs567544076 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19701045 19701046 rs985326 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.459346 0.136653 intron exact 1 31 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3218.000000,1790.000000, 0.642572,0.357428, maf-5-some-pop,maf-5-all-pops 735 chr21 19701050 19701051 rs773854816 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19701070 19701071 rs756936850 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19701074 19701075 rs191615762 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19701095 19701096 rs182626693 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19701130 19701131 rs74732316 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19701222 19701223 rs145520015 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 735 chr21 19701229 19701230 rs570743476 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19701262 19701263 rs538816173 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701287 19701288 rs187086097 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19701290 19701291 rs569363641 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701303 19701304 rs1041406 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.459233 0.136827 intron exact 1 31 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1789.000000,3219.000000, 0.357228,0.642772, maf-5-some-pop,maf-5-all-pops 735 chr21 19701331 19701332 rs555476975 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701388 19701389 rs573550174 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701391 19701392 rs541049749 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701419 19701420 rs552976489 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19701421 19701423 rs68023548 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.459233 0.136827 intron range 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,CT, 1789.000000,3219.000000, 0.357228,0.642772, maf-5-some-pop,maf-5-all-pops 735 chr21 19701422 19701424 rs3077993 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 TSC-CSHL, 0 735 chr21 19701423 19701425 rs568308102 0 + CT CT -/CT genomic deletion unknown 0 0 intron range 1 7 ABI,BCMHGSC_JDW,BUSHMAN,DEVINE_LAB,HGSV,HUMANGENOME_JCVI,PJP, 0 735 chr21 19701435 19701436 rs761845548 0 + A A A/G genomic single unknown 0.000017 0.002872 intron exact 1 1 EVA_EXAC, 2 A,G, 121189.000000,1.000000, 0.999992,0.000008, 735 chr21 19701436 19701437 rs145335004 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000891 0.021085 intron exact 1 5 1000GENOMES,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,T, 126139.000000,57.000000, 0.999548,0.000452, 735 chr21 19701439 19701440 rs750592502 0 + C C C/T genomic single by-frequency 0.000083 0.006422 intron exact 1 1 EVA_EXAC, 2 C,T, 121189.000000,5.000000, 0.999959,0.000041, 735 chr21 19701441 19701442 rs375329840 0 + T T A/G/T genomic single by-cluster,by-frequency 0.000116 0.007599 intron exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 A,G,T, 6.000000,1.000000,121185.000000, 0.000050,0.000008,0.999942, 735 chr21 19701442 19701443 rs751307016 0 + C C C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 121175.000000,1.000000, 0.999992,0.000008, 735 chr21 19701447 19701448 rs754852311 0 + G G A/G genomic single unknown 0.000017 0.002872 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121199.000000, 0.000008,0.999992, 735 chr21 19701450 19701451 rs780960476 0 + T T C/T genomic single unknown 0.000017 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121191.000000, 0.000008,0.999992, 735 chr21 19701451 19701452 rs748130369 0 + T T G/T genomic single by-frequency 0.000182 0.009525 intron exact 1 1 EVA_EXAC, 2 G,T, 11.000000,121189.000000, 0.000091,0.999909, 735 chr21 19701453 19701454 rs566996685 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19701456 19701457 rs755637809 0 + C C A/C genomic single unknown 0.000017 0.002872 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121203.000000, 0.000008,0.999992, 735 chr21 19701470 19701471 rs367594675 0 + A A A/C genomic single unknown 0.000154 0.008773 intron exact 1 1 NHLBI-ESP, 2 A,C, 12997.000000,1.000000, 0.999923,0.000077, 735 chr21 19701473 19701474 rs777441244 0 + T T C/T genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121219.000000, 0.000008,0.999992, 735 chr21 19701476 19701477 rs371682564 0 + C C C/T genomic single by-cluster,by-frequency 0.000198 0.009947 intron exact 1 4 EVA_EXAC,EVA_MGP,NHLBI-ESP,WEILL_CORNELL_DGM, 2 C,T, 121212.000000,12.000000, 0.999901,0.000099, 735 chr21 19701477 19701478 rs770489084 0 + A A A/C genomic single by-frequency 0.000033 0.004062 intron exact 1 1 EVA_EXAC, 2 A,C, 121224.000000,2.000000, 0.999983,0.000016, 735 chr21 19701485 19701486 rs754255036 0 + C C C/T genomic single unknown 0 0 missense exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19701487 19701488 rs774115229 0 + A A A/G genomic single unknown 0.000017 0.002872 missense exact 1 1 EVA_EXAC, 2 A,G, 121207.000000,1.000000, 0.999992,0.000008, 735 chr21 19701500 19701501 rs747310332 0 + C C C/T genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,T, 121171.000000,1.000000, 0.999992,0.000008, 735 chr21 19701503 19701504 rs769100534 0 + C C C/G genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,G, 121165.000000,1.000000, 0.999992,0.000008, 735 chr21 19701509 19701510 rs368842840 0 + C C C/T genomic single by-cluster 0.000017 0.002873 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121127.000000,1.000000, 0.999992,0.000008, 735 chr21 19701526 19701527 rs762326416 0 + A A A/C genomic single by-frequency 0.000033 0.004069 missense exact 1 1 EVA_EXAC, 2 A,C, 120796.000000,2.000000, 0.999983,0.000017, 735 chr21 19701529 19701530 rs545194203 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000116 0.007615 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 125662.000000,10.000000, 0.999920,0.000080, 735 chr21 19701531 19701532 rs773282560 0 + A A A/C/G genomic single by-frequency 0.000166 0.009107 coding-synon,missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,G, 120514.000000,1.000000,9.000000, 0.999917,0.000008,0.000075, 735 chr21 19701536 19701537 rs867683446 0 + T T C/T genomic single unknown 0 0 missense exact 1 1 ILLUMINA, 0 735 chr21 19701538 19701539 rs144951297 0 + A A A/G genomic single by-cluster 0.000017 0.002886 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 120076.000000,1.000000, 0.999992,0.000008, 735 chr21 19701539 19701539 rs761910262 0 + - - -/T genomic insertion unknown 0.000017 0.002886 frameshift between 1 1 EVA_EXAC, 2 -,T, 120076.000000,1.000000, 0.999992,0.000008, 735 chr21 19701569 19701570 rs751848704 0 + G G A/G genomic single unknown 0.000017 0.002935 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,116061.000000, 0.000009,0.999991, 735 chr21 19701571 19701572 rs563483921 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701576 19701577 rs77090664 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002694 0.036601 coding-synon exact 1 5 1000GENOMES,EVA_EXAC,ILLUMINA,JMKIDD_LAB,NHLBI-ESP, 2 A,G, 119752.000000,180.000000, 0.998499,0.001501, 735 chr21 19701584 19701585 rs767444117 0 + C C C/T genomic single unknown 0.000018 0.00297 missense exact 1 1 EVA_EXAC, 2 C,T, 113327.000000,1.000000, 0.999991,0.000009, 735 chr21 19701590 19701591 rs752625731 0 + G G A/G genomic single unknown 0.000018 0.002984 nonsense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,112271.000000, 0.000009,0.999991, 735 chr21 19701607 19701608 rs756127959 0 + A A A/T genomic single by-frequency 0.000055 0.005239 missense exact 1 1 EVA_EXAC, 2 A,T, 109301.000000,3.000000, 0.999973,0.000027, 735 chr21 19701612 19701613 rs777927429 0 + T T A/C/T genomic single by-frequency 0.000055 0.005257 splice-3 exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 2.000000,1.000000,108519.000000, 0.000018,0.000009,0.999972, 735 chr21 19701622 19701623 rs756844691 0 + G G A/G genomic single unknown 0.000019 0.003052 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,107319.000000, 0.000009,0.999991, 735 chr21 19701630 19701631 rs778395617 0 + A A A/G genomic single unknown 0.000019 0.003065 intron exact 1 1 EVA_EXAC, 2 A,G, 106467.000000,1.000000, 0.999991,0.000009, 735 chr21 19701645 19701646 rs745561876 0 + C C C/T genomic single unknown 0.000019 0.003097 intron exact 1 1 EVA_EXAC, 2 C,T, 104263.000000,1.000000, 0.999990,0.000010, 735 chr21 19701647 19701648 rs535962473 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19701652 19701653 rs371390036 0 + T T C/T genomic single by-cluster,by-frequency 0.000136 0.008237 intron exact 1 4 EVA-GONL,EVA_EXAC,EVA_MGP,NHLBI-ESP, 2 C,T, 7.000000,103135.000000, 0.000068,0.999932, 735 chr21 19701657 19701658 rs776990442 0 + T T C/T genomic single unknown 0.00002 0.003128 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,102227.000000, 0.000010,0.999990, 735 chr21 19701661 19701662 rs748587281 0 + T T C/T genomic single unknown 0.00002 0.003142 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,101291.000000, 0.000010,0.999990, 735 chr21 19701680 19701681 rs374177444 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19701691 19701692 rs751440276 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19701695 19701696 rs149226166 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 735 chr21 19701698 19701698 rs200857609 0 + - - -/A genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 735 chr21 19701726 19701727 rs528463229 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19701729 19701730 rs762349457 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19701752 19701753 rs192186457 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701769 19701770 rs201070040 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.288127 0.247076 intron exact 1 4 1000GENOMES,EVA_GENOME_DK,GMI,WARNICH_LAB, 2 -,T, 874.000000,4134.000000, 0.174521,0.825479, maf-5-some-pop 735 chr21 19701778 19701780 rs199548953 0 + TG TG -/TG genomic deletion unknown 0 0 intron range 1 2 1000GENOMES,BUSHMAN, 0 735 chr21 19701779 19701780 rs5842684 0 + G G G/T genomic single by-cluster 0.5 0 intron exact 1 MixedObserved 6 BGI,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSAHASNP, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19701779 19701780 rs35428923 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.459118 0.137002 intron exact 1 MixedObserved 11 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,PJP,SSMP, 2 -,G, 1788.000000,3220.000000, 0.357029,0.642971, maf-5-some-pop,maf-5-all-pops 735 chr21 19701780 19701781 rs397793834 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 735 chr21 19701815 19701816 rs538120985 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19701835 19701836 rs7364052 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 6 1000GENOMES,HGSV,ILLUMINA-UK,SC_SNP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 33.000000,4975.000000, 0.006589,0.993411, 735 chr21 19701837 19701838 rs532667876 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19701884 19701885 rs550718690 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19701889 19701890 rs368556107 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19701904 19701905 rs566526596 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19701905 19701906 rs569097848 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19701917 19701918 rs780966816 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19701941 19701942 rs75661931 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 32.000000,4976.000000, 0.006390,0.993610, 735 chr21 19701977 19701978 rs758450334 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702015 19702016 rs548781835 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19702018 19702019 rs567389161 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19702025 19702026 rs184504613 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19702041 19702042 rs553025917 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19702067 19702068 rs755595693 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19702139 19702140 rs2824744 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.465788 0.126237 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3159.000000,1849.000000, 0.630791,0.369209, maf-5-some-pop,maf-5-all-pops 735 chr21 19702140 19702141 rs868845168 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19702160 19702161 rs538927517 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19702162 19702163 rs190191047 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19702183 19702184 rs73322100 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.281049 0.248064 intron exact 1 13 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4161.000000,847.000000, 0.830871,0.169129, maf-5-some-pop,maf-5-all-pops 735 chr21 19702295 19702296 rs193297060 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19702317 19702319 rs776176501 0 + AC AC -/AC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702319 19702320 rs755900461 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702382 19702383 rs11911274 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.20511 0.245937 intron exact 1 MixedObserved 21 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4427.000000,581.000000, 0.883986,0.116014, maf-5-some-pop 735 chr21 19702382 19702385 rs386816757 0 + CTT CTT CTT/GTC genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 735 chr21 19702418 19702419 rs780370646 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19702466 19702467 rs140467142 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 735 chr21 19702481 19702482 rs540217536 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19702502 19702503 rs749095432 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702566 19702567 rs145694793 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 735 chr21 19702569 19702570 rs8128136 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.106278 0.204558 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 282.000000,4726.000000, 0.056310,0.943690, maf-5-some-pop 735 chr21 19702581 19702582 rs58601086 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,HGSV, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19702600 19702601 rs745359818 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702605 19702606 rs550212038 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19702606 19702607 rs138288474 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19702609 19702618 rs769234319 0 + CTGATGATT CTGATGATT -/CTGATGATT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702633 19702634 rs562868892 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19702672 19702673 rs530215626 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19702675 19702675 rs34646259 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19702698 19702699 rs1474821 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.164873 0.235061 intron exact 1 34 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 454.000000,4554.000000, 0.090655,0.909345, maf-5-some-pop,genotype-conflict 735 chr21 19702702 19702703 rs141761342 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19702716 19702717 rs561909921 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19702722 19702723 rs546758432 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19702734 19702735 rs184510038 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19702778 19702779 rs145488617 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19702791 19702792 rs117851033 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 32.000000,4976.000000, 0.006390,0.993610, 735 chr21 19702799 19702800 rs760335615 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702806 19702807 rs372185539 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19702807 19702808 rs777083448 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19702901 19702902 rs76135675 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 735 chr21 19702987 19702988 rs149548083 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19703008 19703009 rs762302927 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19703053 19703054 rs74656692 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,G, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19703059 19703060 rs554754784 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19703077 19703078 rs544483674 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19703117 19703118 rs573213396 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19703155 19703156 rs189217672 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19703170 19703171 rs565081220 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19703181 19703182 rs769861923 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19703204 19703205 rs375347382 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19703223 19703224 rs576802025 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19703247 19703248 rs544233324 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19703251 19703252 rs13049874 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19703261 19703262 rs8133512 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495634 0.046521 intron exact 1 19 1000GENOMES,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2738.000000,2270.000000, 0.546725,0.453275, maf-5-some-pop,maf-5-all-pops 735 chr21 19703262 19703263 rs181189738 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19703281 19703282 rs373263598 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19703303 19703304 rs185599215 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19703374 19703375 rs62213459 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_DECODE, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19703384 19703385 rs766482341 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19703389 19703389 rs559205646 0 + - - -/AA/AAA genomic insertion by-cluster 0 0 intron between 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 735 chr21 19703407 19703408 rs60877901 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 735 chr21 19703407 19703407 rs34006357 0 + - - -/AA genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 HUMANGENOME_JCVI,PJP, 1 AA, 2.000000, 1.000000, 735 chr21 19703408 19703409 rs199701058 0 - G G C/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 735 chr21 19703408 19703408 rs397689438 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 2 ABI,HGSV, 0 735 chr21 19703425 19703426 rs546697267 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19703457 19703458 rs571400731 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19703483 19703484 rs28564713 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 intron exact 1 5 1000GENOMES,PJP,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 86.000000,4922.000000, 0.017173,0.982827, maf-5-some-pop 735 chr21 19703485 19703486 rs546932449 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19703488 19703489 rs117640246 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 735 chr21 19703509 19703510 rs569011751 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19703512 19703513 rs763078342 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19703563 19703564 rs536559108 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19703578 19703578 rs529379179 0 + - - -/TTT genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19703643 19703644 rs534552788 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19703644 19703645 rs116475634 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19703648 19703649 rs13046051 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.261056 0.249755 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 773.000000,4235.000000, 0.154353,0.845647, maf-5-some-pop 735 chr21 19703665 19703666 rs751666588 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19703733 19703734 rs189914152 0 + G G G/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 G,T, 4984.000000,24.000000, 0.995208,0.004792, 735 chr21 19703736 19703737 rs569049296 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19703761 19703762 rs576939881 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19703783 19703784 rs142682807 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19703798 19703799 rs147382959 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19703810 19703811 rs574992298 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19703815 19703816 rs538084174 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19703863 19703864 rs180718525 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19703958 19703959 rs755135865 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19703984 19703985 rs781416505 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19704072 19704073 rs560651658 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704073 19704074 rs369847354 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19704113 19704114 rs577532350 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19704115 19704116 rs757093407 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19704127 19704128 rs527873446 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19704186 19704187 rs529012994 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19704206 19704207 rs542987050 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704249 19704250 rs57382089 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 54.000000,4954.000000, 0.010783,0.989217, 735 chr21 19704272 19704273 rs369746714 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704295 19704296 rs1155847 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.188631 0.242351 intron exact 1 38 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 528.000000,4480.000000, 0.105431,0.894569, maf-5-some-pop 735 chr21 19704325 19704326 rs568824099 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704330 19704331 rs745859500 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19704333 19704334 rs529701449 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704334 19704335 rs772047068 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19704340 19704341 rs779371143 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19704342 19704343 rs145109232 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704351 19704352 rs770279819 0 + A A A/T genomic single unknown 0.000017 0.002876 intron exact 1 1 EVA_EXAC, 2 A,T, 120925.000000,1.000000, 0.999992,0.000008, 735 chr21 19704359 19704360 rs773765421 0 + T T C/T genomic single by-cluster 0.000017 0.002875 intron exact 1 2 EVA_DECODE,EVA_EXAC, 2 C,T, 1.000000,120969.000000, 0.000008,0.999992, 735 chr21 19704366 19704367 rs566685523 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704378 19704379 rs762911267 0 + A A A/C genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,C, 121131.000000,1.000000, 0.999992,0.000008, 735 chr21 19704379 19704380 rs771074027 0 + C C C/T genomic single by-cluster,by-frequency 0.00005 0.004976 intron exact 1 2 EVA_EXAC,WEILL_CORNELL_DGM, 2 C,T, 121135.000000,3.000000, 0.999975,0.000025, 735 chr21 19704390 19704391 rs774389702 0 + A A A/T genomic single by-frequency 0.000148 0.008614 intron exact 1 1 EVA_EXAC, 2 A,T, 121243.000000,9.000000, 0.999926,0.000074, 735 chr21 19704391 19704392 rs759818398 0 + A A A/G genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 A,G, 121251.000000,1.000000, 0.999992,0.000008, 735 chr21 19704405 19704406 rs767357761 0 + G G C/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121339.000000, 0.000008,0.999992, 735 chr21 19704415 19704416 rs372420249 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000049 0.004971 missense exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 G,T, 126374.000000,4.000000, 0.999968,0.000032, 735 chr21 19704419 19704420 rs558352557 0 + G G A/G genomic single by-1000genomes 0.000082 0.006418 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 6.000000,126380.000000, 0.000047,0.999953, 735 chr21 19704421 19704422 rs8134187 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.031183 0.12091 missense exact 1 18 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 2200.000000,124190.000000, 0.017406,0.982594, maf-5-some-pop 735 chr21 19704428 19704429 rs753850136 0 + A A A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121379.000000,1.000000, 0.999992,0.000008, 735 chr21 19704432 19704433 rs61735770 0 + T T C/T genomic single unknown 0.02597 0.110952 missense exact 1 1 CORNELL, 2 C,T, 1.000000,75.000000, 0.013158,0.986842, 735 chr21 19704434 19704435 rs756678214 0 + C C C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121387.000000,1.000000, 0.999992,0.000008, 735 chr21 19704435 19704436 rs778504575 0 + G G A/G genomic single by-frequency 0.000049 0.004971 missense exact 1 1 EVA_EXAC, 2 A,G, 3.000000,121383.000000, 0.000025,0.999975, 735 chr21 19704441 19704442 rs375661015 0 + C C C/T genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121385.000000,1.000000, 0.999992,0.000008, 735 chr21 19704446 19704447 rs147743156 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002386 0.034459 coding-synon exact 1 10 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 C,T, 148.000000,126246.000000, 0.001171,0.998829, 735 chr21 19704452 19704453 rs779746893 0 + A A A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121387.000000,1.000000, 0.999992,0.000008, 735 chr21 19704457 19704458 rs748497707 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121385.000000, 0.000008,0.999992, 735 chr21 19704463 19704464 rs770192217 0 + A A A/G genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 A,G, 121386.000000,2.000000, 0.999984,0.000016, 735 chr21 19704471 19704472 rs778213155 0 + A A A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 121381.000000,1.000000, 0.999992,0.000008, 735 chr21 19704474 19704475 rs776466028 0 + G G C/G genomic single by-frequency 0.000033 0.004059 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,121374.000000, 0.000016,0.999984, 735 chr21 19704475 19704476 rs367925854 0 + G G A/G genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 1.000000,121363.000000, 0.000008,0.999992, 735 chr21 19704478 19704479 rs774494874 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121363.000000,1.000000, 0.999992,0.000008, 735 chr21 19704483 19704484 rs186100831 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704485 19704486 rs759604431 0 + G G A/G genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121345.000000, 0.000008,0.999992, 735 chr21 19704487 19704488 rs868630008 0 + C C C/T genomic single unknown 0 0 missense exact 1 1 YSAMUELS, 0 735 chr21 19704488 19704489 rs142662013 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000181 0.009519 coding-synon exact 1 5 1000GENOMES,EVA_EXAC,EXOME_CHIP,JMKIDD_LAB,NHLBI-ESP, 2 C,T, 126327.000000,13.000000, 0.999897,0.000103, 735 chr21 19704489 19704490 rs146718638 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000511 0.015974 missense exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,G, 32.000000,126302.000000, 0.000253,0.999747, 735 chr21 19704498 19704499 rs760519704 0 + G G A/G genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121295.000000, 0.000008,0.999992, 735 chr21 19704506 19704507 rs764007050 0 + T T C/T genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121251.000000, 0.000008,0.999992, 735 chr21 19704507 19704508 rs753666164 0 + G G A/G genomic single by-frequency 0.000066 0.005743 intron exact 1 1 EVA_EXAC, 2 A,G, 4.000000,121246.000000, 0.000033,0.999967, 735 chr21 19704514 19704515 rs761821093 0 + C C C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 121181.000000,1.000000, 0.999992,0.000008, 735 chr21 19704523 19704524 rs770118816 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19704528 19704529 rs764582247 0 + T T C/T genomic single by-frequency 0.000066 0.005747 intron exact 1 1 EVA_EXAC, 2 C,T, 4.000000,121074.000000, 0.000033,0.999967, 735 chr21 19704534 19704535 rs370419721 0 + T T C/T genomic single by-cluster,by-1000genomes 0.00005 0.00498 intron exact 1 3 1000GENOMES,EVA_EXAC,SSMP, 2 C,T, 4.000000,125978.000000, 0.000032,0.999968, 735 chr21 19704547 19704548 rs758885509 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19704553 19704554 rs572801317 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704562 19704563 rs553698654 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19704591 19704592 rs564681021 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704643 19704644 rs747472049 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19704664 19704665 rs151102302 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 0 735 chr21 19704708 19704709 rs531985180 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704721 19704722 rs191934756 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19704722 19704723 rs562470135 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704724 19704725 rs573569688 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19704735 19704736 rs529673932 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704776 19704777 rs542301629 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19704788 19704789 rs547890135 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19704820 19704821 rs559232264 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19704825 19704826 rs139872029 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704854 19704855 rs766925163 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19704856 19704857 rs527584278 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19704867 19704868 rs76834604 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4926.000000,82.000000, 0.983626,0.016374, maf-5-some-pop 735 chr21 19704883 19704884 rs555870641 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19704898 19704899 rs570303415 0 + A A A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19704949 19704950 rs537678813 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704956 19704957 rs548739916 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19704961 19704962 rs181991019 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19704966 19704967 rs13047621 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.268995 0.249277 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 802.000000,4206.000000, 0.160144,0.839856, maf-5-some-pop,maf-5-all-pops 735 chr21 19704992 19704993 rs767702907 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19705039 19705040 rs553885676 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705039 19705040 rs764075484 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19705050 19705051 rs149854117 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016647 0.089824 intron exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 3 A,C,T, 37.000000,4966.000000,5.000000, 0.007388,0.991613,0.000998, 735 chr21 19705061 19705062 rs558533466 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705064 19705065 rs544446852 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19705067 19705068 rs576686461 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19705101 19705102 rs757070000 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19705107 19705108 rs185775853 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705108 19705109 rs562566144 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705119 19705120 rs111840198 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19705126 19705127 rs564534528 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19705185 19705186 rs145841080 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19705202 19705203 rs760612560 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19705298 19705299 rs758216923 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19705316 19705317 rs548018303 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19705325 19705326 rs527327123 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19705337 19705338 rs578161611 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705382 19705383 rs564733976 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19705408 19705409 rs866484613 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19705410 19705411 rs564074060 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705449 19705450 rs9983637 0 + T T A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.479177 0.099889 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3015.000000,1993.000000, 0.602037,0.397963, maf-5-some-pop,maf-5-all-pops 735 chr21 19705474 19705475 rs140532674 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19705493 19705494 rs568496761 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19705512 19705513 rs777052575 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19705515 19705516 rs144183117 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19705516 19705517 rs866557804 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19705537 19705538 rs375850541 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705557 19705558 rs146542011 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19705558 19705559 rs113200366 0 + T T G/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19705586 19705587 rs190384612 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19705590 19705591 rs558471680 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19705606 19705607 rs114601397 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 4 1000GENOMES,EVA_DECODE,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4963.000000,45.000000, 0.991014,0.008986, 735 chr21 19705686 19705687 rs537622342 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19705855 19705855 rs549494581 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 735 chr21 19705864 19705864 rs397976342 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 735 chr21 19705866 19705867 rs773392186 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19705883 19705884 rs555684337 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19705902 19705903 rs182930565 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19705923 19705924 rs368237987 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19705927 19705928 rs187814069 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19705936 19705937 rs9980774 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.483053 0.090479 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 2965.000000,2043.000000, 0.592053,0.407947, maf-5-some-pop,maf-5-all-pops 735 chr21 19705952 19705953 rs571692075 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19705955 19705956 rs551505177 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19705968 19705969 rs571371607 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19705982 19705983 rs753715143 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19705985 19705986 rs17002565 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 735 chr21 19705993 19705994 rs531511943 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706039 19706040 rs759596949 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706097 19706098 rs543565370 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706099 19706100 rs561726152 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706110 19706111 rs767649940 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706142 19706146 rs777223757 0 + ATTT ATTT -/ATTT genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 735 chr21 19706176 19706177 rs373329400 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19706177 19706177 rs10700342 0 + - - -/ATC genomic insertion by-cluster,by-frequency,by-1000genomes 0.473359 0.112298 intron between 1 11 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,ATC, 1926.000000,3082.000000, 0.384585,0.615415, maf-5-some-pop,maf-5-all-pops 735 chr21 19706178 19706178 rs34543832 0 + - - -/ATC/TCA genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 7 BCMHGSC_JDW,GMI,HGSV,HUMANGENOME_JCVI,MARSHFIELD,PJP,TISHKOFF, 1 TCA, 2.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 735 chr21 19706179 19706179 rs386394360 0 + - - -/TCA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 735 chr21 19706180 19706180 rs34745418 0 + - - -/ATC/TCA genomic insertion unknown 0 0 intron between 1 2 ABI,BGI, 0 735 chr21 19706181 19706182 rs146366394 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 BL,GMI, 0 735 chr21 19706183 19706184 rs146051836 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BL, 0 735 chr21 19706202 19706203 rs529135517 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706218 19706219 rs775551308 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706277 19706278 rs760746436 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706298 19706300 rs558101517 0 + TT TT -/TT genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 1 1000GENOMES, 2 -,TT, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19706323 19706323 rs79373951 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 intron between 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,A, 4910.000000,98.000000, 0.980431,0.019569, maf-5-some-pop 735 chr21 19706338 19706339 rs191423183 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 735 chr21 19706342 19706343 rs529309338 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19706343 19706344 rs547407241 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19706346 19706347 rs116218843 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4949.000000,59.000000, 0.988219,0.011781, 735 chr21 19706347 19706348 rs182551873 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706349 19706350 rs750142740 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706380 19706381 rs551818748 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19706425 19706426 rs758256254 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706462 19706463 rs549452201 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19706466 19706467 rs374752474 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19706494 19706495 rs188038500 0 + A A A/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 A,T, 4982.000000,26.000000, 0.994808,0.005192, 735 chr21 19706582 19706583 rs79042782 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706599 19706600 rs193076896 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19706639 19706640 rs766399467 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706676 19706677 rs556065224 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706703 19706704 rs367638847 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19706712 19706713 rs567755201 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706713 19706714 rs566051086 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19706727 19706728 rs535257012 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19706737 19706738 rs775192245 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19706747 19706748 rs185030349 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19706761 19706762 rs2824745 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.369346 0.219673 intron exact 1 18 1000GENOMES,AFFY,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1224.000000,3784.000000, 0.244409,0.755591, maf-5-some-pop 735 chr21 19706794 19706795 rs754534935 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19706796 19706797 rs143286589 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19706797 19706798 rs557553178 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19706831 19706832 rs187988929 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19706836 19706837 rs555833944 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19706888 19706889 rs571137115 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19706910 19706911 rs115516965 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 4945.000000,63.000000, 0.987420,0.012580, 735 chr21 19706915 19706916 rs562046695 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19707001 19707002 rs529059452 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19707037 19707038 rs755675943 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707038 19707039 rs376092615 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19707043 19707044 rs192021389 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19707061 19707062 rs559855987 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19707076 19707077 rs533466579 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19707083 19707084 rs777514180 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707094 19707095 rs568605602 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19707186 19707187 rs569939399 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19707187 19707188 rs530981439 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19707246 19707247 rs184574781 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19707247 19707248 rs749592621 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707285 19707286 rs567964820 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19707286 19707287 rs375883937 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19707287 19707288 rs575693747 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19707296 19707297 rs865920319 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19707297 19707298 rs6517810 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.061482 0.164198 intron exact 1 10 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 735 chr21 19707302 19707303 rs368208271 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19707311 19707312 rs772578210 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707327 19707328 rs558304580 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19707343 19707344 rs189385764 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19707347 19707348 rs557882776 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19707352 19707353 rs181595299 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19707444 19707445 rs775494387 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707450 19707451 rs8128038 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.090531 0.192535 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4770.000000,238.000000, 0.952476,0.047524, maf-5-some-pop 735 chr21 19707469 19707470 rs140806120 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19707471 19707472 rs9978711 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 735 chr21 19707474 19707475 rs35011121 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19707593 19707594 rs768726938 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707626 19707627 rs375006322 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19707676 19707677 rs8132001 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.090531 0.192535 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 238.000000,4770.000000, 0.047524,0.952476, maf-5-some-pop 735 chr21 19707758 19707759 rs573899506 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19707761 19707762 rs762645125 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707767 19707768 rs2824746 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.359575 0.224707 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 3831.000000,1177.000000, 0.764976,0.235024, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19707798 19707799 rs559596640 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19707803 19707804 rs751407898 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707804 19707805 rs577951189 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19707829 19707830 rs77656333 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19707840 19707841 rs563833075 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19707857 19707858 rs530778222 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19707858 19707859 rs150173307 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19707864 19707865 rs572988372 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19707889 19707890 rs2824747 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.262985 0.249663 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4228.000000,780.000000, 0.844249,0.155751, maf-5-some-pop 735 chr21 19707894 19707894 rs574494017 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,A, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19707899 19707900 rs184257991 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19707978 19707979 rs546931575 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19707986 19707987 rs752111221 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19707989 19707990 rs2824748 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.494774 0.05085 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 2248.000000,2760.000000, 0.448882,0.551118, maf-5-some-pop,maf-5-all-pops 735 chr21 19708000 19708001 rs79720027 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 291.000000,4717.000000, 0.058107,0.941893, maf-5-some-pop 735 chr21 19708012 19708013 rs372697679 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19708014 19708015 rs189568893 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19708015 19708016 rs138627460 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19708059 19708060 rs753590885 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19708076 19708077 rs555344376 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19708167 19708168 rs377167624 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19708228 19708229 rs115233052 0 + A A A/G genomic single by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 1 1000GENOMES, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, 735 chr21 19708242 19708243 rs756907579 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19708256 19708257 rs5842685 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.330016 0.236849 intron exact 1 5 1000GENOMES,BILGI_BIOE,GMI,PJP,SSMP, 2 -,T, 3964.000000,1044.000000, 0.791534,0.208466, maf-5-some-pop,maf-5-all-pops 735 chr21 19708257 19708258 rs574365354 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19708270 19708271 rs397749912 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 735 chr21 19708275 19708276 rs534904681 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19708331 19708332 rs544118764 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19708346 19708347 rs989891 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.454904 0.143228 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1752.000000,3256.000000, 0.349840,0.650160, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19708350 19708351 rs180920420 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19708358 19708359 rs545257435 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19708402 19708403 rs186117696 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19708404 19708405 rs112834750 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19708415 19708415 rs200203846 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 GMI, 0 735 chr21 19708446 19708447 rs529239248 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19708514 19708515 rs142877720 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19708535 19708536 rs549124897 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19708592 19708593 rs17002571 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.109461 0.206758 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 291.000000,4717.000000, 0.058107,0.941893, maf-5-some-pop 735 chr21 19708625 19708626 rs561326876 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19708640 19708641 rs117672955 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 735 chr21 19708673 19708674 rs79169940 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4851.000000,157.000000, 0.968650,0.031350, maf-5-some-pop 735 chr21 19708718 19708719 rs565274406 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19708790 19708791 rs532531485 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19708798 19708799 rs190919180 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,WARNICH_LAB, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19708817 19708818 rs569601486 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19708819 19708820 rs537158351 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19708848 19708849 rs147360025 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19708855 19708856 rs776718339 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19708917 19708917 rs34888947 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19708920 19708921 rs551494323 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19708943 19708944 rs371058548 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19708959 19708960 rs762031883 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19708975 19708976 rs770154691 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19709030 19709031 rs567267470 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709053 19709054 rs137905128 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19709054 19709055 rs9984682 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 735 chr21 19709064 19709065 rs578015290 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709094 19709095 rs865912404 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19709117 19709118 rs538409461 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19709124 19709125 rs376061246 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19709132 19709133 rs557129582 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19709152 19709153 rs181368217 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709214 19709214 rs374531780 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 BGI, 0 735 chr21 19709215 19709216 rs376915171 0 + C C A/C genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 735 chr21 19709215 19709217 rs796211364 0 + CA CA -/CA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19709215 19709215 rs35152086 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron between 1 MixedObserved 19 1000GENOMES,ABI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PADH-LAB_SPU,PJP,SSIP,SSMP,TISHKOFF, 2 -,A, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 735 chr21 19709216 19709217 rs369744757 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved 1 BILGI_BIOE, 0 735 chr21 19709216 19709216 rs67997118 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 2 DEVINE_LAB,PJP, 0 735 chr21 19709260 19709261 rs368813575 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19709272 19709273 rs745790594 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19709359 19709360 rs370393932 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19709376 19709377 rs373701822 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19709383 19709384 rs536154255 0 + T T C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19709388 19709389 rs143568077 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 735 chr21 19709406 19709407 rs549320199 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19709417 19709418 rs367874299 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19709426 19709427 rs538694021 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19709442 19709443 rs77270312 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.164546 0.234942 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 453.000000,4555.000000, 0.090455,0.909545, maf-5-some-pop 735 chr21 19709459 19709460 rs540251037 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709460 19709461 rs760097222 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19709469 19709470 rs143919729 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19709483 19709484 rs763592509 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19709505 19709506 rs187150660 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19709595 19709596 rs544437128 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19709607 19709608 rs148771238 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19709610 19709611 rs13046004 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.301429 0.244653 intron exact 1 23 1000GENOMES,ABI,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 926.000000,4082.000000, 0.184904,0.815096, maf-5-some-pop,maf-5-all-pops 735 chr21 19709616 19709617 rs58714128 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.090169 0.192235 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4771.000000,237.000000, 0.952676,0.047324, maf-5-some-pop 735 chr21 19709646 19709647 rs12626940 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.46865 0.121211 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1877.000000,3131.000000, 0.374800,0.625200, maf-5-some-pop,maf-5-all-pops 735 chr21 19709669 19709669 rs531723785 0 + - - -/CAGAAATAAG genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 intron between 1 1 1000GENOMES, 2 -,CAGAAATAAG, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19709707 19709708 rs758808105 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19709708 19709709 rs191134362 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19709732 19709733 rs142388211 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 2 A,G, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19709764 19709765 rs571526873 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709783 19709784 rs113864297 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19709813 19709814 rs543361229 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19709818 19709819 rs2244884 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.2768 0.248559 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4177.000000,831.000000, 0.834065,0.165935, maf-5-some-pop,maf-5-all-pops 735 chr21 19709844 19709845 rs767966722 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19709847 19709848 rs557021336 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709860 19709861 rs73323915 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 73.000000,4935.000000, 0.014577,0.985423, maf-5-some-pop 735 chr21 19709862 19709863 rs536094081 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709877 19709878 rs2824749 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.362104 0.223456 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1189.000000,3819.000000, 0.237420,0.762580, maf-5-some-pop,maf-5-all-pops 735 chr21 19709880 19709881 rs573025631 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 intron exact 1 3 1000GENOMES,EVA_DECODE,EVA_GENOME_DK, 2 A,G, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 735 chr21 19709881 19709882 rs540186307 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 C,G, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 735 chr21 19709904 19709905 rs372938032 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19709935 19709936 rs139776836 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19709951 19709952 rs770101566 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19709969 19709970 rs577206334 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19709974 19709975 rs144480975 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19709994 19709995 rs757596714 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19710010 19710011 rs773610623 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19710045 19710046 rs565284222 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19710051 19710052 rs146560128 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19710052 19710053 rs530298502 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19710070 19710071 rs540829811 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19710141 19710142 rs57290564 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.089808 0.191933 intron exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4772.000000,236.000000, 0.952875,0.047125, maf-5-some-pop 735 chr21 19710144 19710145 rs183416943 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19710244 19710245 rs149799975 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19710268 19710269 rs760602859 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19710284 19710285 rs187538471 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19710290 19710291 rs369374447 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19710292 19710293 rs145748403 0 + T T C/T genomic single by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19710307 19710329 rs781782645 0 + TTTCAAATCAGATGGGTTATTC TTTCAAATCAGATGGGTTATTC -/TTTCAAATCAGATGGGTTATTC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19710329 19710330 rs532040545 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19710344 19710345 rs149090476 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19710363 19710364 rs569075213 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19710371 19710372 rs536421357 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19710381 19710382 rs189742763 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19710401 19710402 rs373638154 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19710428 19710429 rs566583413 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19710437 19710438 rs143150511 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19710449 19710450 rs867778690 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19710468 19710469 rs529909751 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19710472 19710473 rs763960301 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19710478 19710479 rs558671653 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19710479 19710480 rs62214960 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19710539 19710540 rs377597009 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19710547 19710548 rs138806864 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19710609 19710610 rs9982848 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.270892 0.249126 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 809.000000,4199.000000, 0.161542,0.838458, maf-5-some-pop,maf-5-all-pops 735 chr21 19710656 19710657 rs141489704 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19710768 19710769 rs575053162 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19710853 19710854 rs13047279 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.21695 0.247806 intron exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4388.000000,620.000000, 0.876198,0.123802, maf-5-some-pop,maf-5-all-pops 735 chr21 19710873 19710874 rs147007830 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19710880 19710881 rs764844378 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19710991 19710992 rs771986759 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19710995 19710996 rs532056217 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711000 19711001 rs776440310 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19711006 19711007 rs377425077 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19711022 19711023 rs137917371 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19711043 19711044 rs564867289 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19711044 19711045 rs112175137 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 735 chr21 19711051 19711057 rs199660153 0 + AGAGAA AGAGAA -/AGAGAA genomic deletion unknown 0 0 intron range 1 1 GMI, 0 735 chr21 19711056 19711057 rs10645650 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.38734 0.208896 intron exact 1 15 1000GENOMES,BCMHGSC_JDW,BGI,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 1718.000000,612.000000, 0.737339,0.262661, maf-5-some-pop,maf-5-all-pops 735 chr21 19711057 19711057 rs57668525 0 + - - -/AGAG genomic insertion by-cluster,by-frequency,by-1000genomes 0.476155 0.106555 intron between 1 8 1000GENOMES,BUSHMAN,DDI,EVA-GONL,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,AGAG, 1718.000000,2678.000000, 0.390810,0.609190, maf-5-some-pop,maf-5-all-pops 735 chr21 19711059 19711059 rs140374579 0 + - - -/GAGA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 735 chr21 19711069 19711069 rs397940765 0 + - - -/AGAG genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 735 chr21 19711086 19711087 rs117638453 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,MPI_MOLGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19711098 19711099 rs751888361 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711103 19711104 rs554375382 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19711127 19711128 rs182355832 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19711188 19711189 rs548117769 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711230 19711231 rs566325418 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711272 19711273 rs755464462 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711273 19711274 rs533765337 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711287 19711288 rs141604471 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19711297 19711298 rs781582536 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711314 19711315 rs769382884 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19711315 19711316 rs570872129 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19711325 19711326 rs78654278 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19711358 19711359 rs12483255 0 + G G A/G genomic single by-hapmap 0 0 intron exact 1 1 CSHL-HAPMAP, 0 735 chr21 19711368 19711369 rs374179410 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19711375 19711376 rs150541538 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 735 chr21 19711391 19711392 rs2210226 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 intron exact 1 5 1000GENOMES,ABI,COMPLETE_GENOMICS,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4935.000000,73.000000, 0.985423,0.014577, maf-5-some-pop 735 chr21 19711398 19711399 rs536928153 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19711421 19711422 rs574817672 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19711424 19711425 rs2210227 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.370974 0.218781 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 1232.000000,3776.000000, 0.246006,0.753994, maf-5-some-pop,maf-5-all-pops 735 chr21 19711483 19711484 rs554534689 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19711490 19711491 rs572663240 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711510 19711511 rs2210228 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.318896 0.240319 intron exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 997.000000,4011.000000, 0.199081,0.800919, maf-5-some-pop,maf-5-all-pops 735 chr21 19711519 19711521 rs138008409 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron range 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,AT, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 735 chr21 19711536 19711537 rs558922938 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19711544 19711545 rs77456189 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19711562 19711563 rs114684451 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 735 chr21 19711658 19711659 rs79474433 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4945.000000,63.000000, 0.987420,0.012580, 735 chr21 19711675 19711676 rs187730703 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19711702 19711703 rs548057978 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19711708 19711709 rs746807583 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711717 19711718 rs768603817 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711783 19711784 rs8134450 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499732 0.011578 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2446.000000,2562.000000, 0.488419,0.511581, maf-5-some-pop,maf-5-all-pops 735 chr21 19711786 19711786 rs539990388 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.00319 0.039809 intron between 1 1 1000GENOMES, 2 -,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19711787 19711788 rs527449309 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711791 19711792 rs560715985 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19711806 19711807 rs552108036 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711846 19711847 rs761297487 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711847 19711848 rs764519950 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19711853 19711854 rs373957917 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19711860 19711861 rs764797325 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711863 19711864 rs772717182 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19711896 19711897 rs17002576 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.091253 0.193131 intron exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 240.000000,4768.000000, 0.047923,0.952077, maf-5-some-pop 735 chr21 19711909 19711910 rs139687253 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711913 19711914 rs550296527 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19711915 19711916 rs568342380 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19711956 19711957 rs13050192 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 16 1000GENOMES,ABI,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 735 chr21 19712003 19712008 rs563283233 0 + TTGTT TTGTT -/TTGTT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 735 chr21 19712006 19712007 rs10716082 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.239568 0.249782 intron exact 1 9 1000GENOMES,ABI,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,T, 557.000000,3446.000000, 0.139146,0.860854, maf-5-some-pop,maf-5-all-pops 735 chr21 19712006 19712006 rs768669333 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 DDI,HAMMER_LAB, 0 735 chr21 19712007 19712007 rs569160455 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.34962 0.229294 intron between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 3446.000000,1005.000000, 0.774208,0.225792, maf-5-some-pop,maf-5-all-pops 735 chr21 19712011 19712011 rs35745106 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 6 ABI,GMI,HUMANGENOME_JCVI,LUNTER,PJP,TISHKOFF, 1 T, 2.000000, 1.000000, 735 chr21 19712014 19712014 rs398121476 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 GMI, 0 735 chr21 19712110 19712111 rs751912074 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19712182 19712183 rs192528817 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19712189 19712190 rs566399732 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19712193 19712194 rs539995465 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19712202 19712203 rs2824750 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.370974 0.218781 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3776.000000,1232.000000, 0.753994,0.246006, maf-5-some-pop 735 chr21 19712203 19712204 rs185160373 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19712287 19712288 rs543972012 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19712313 19712315 rs548208184 0 + AT AT -/AT genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 1 1000GENOMES, 2 -,AT, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19712316 19712317 rs551840487 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19712319 19712320 rs188793283 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19712337 19712338 rs113390701 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19712342 19712343 rs755684662 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19712440 19712441 rs13050848 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.237593 0.249692 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 690.000000,4318.000000, 0.137780,0.862220, maf-5-some-pop,maf-5-all-pops 735 chr21 19712484 19712485 rs758355716 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19712514 19712515 rs559988008 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19712531 19712532 rs796678518 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 735 chr21 19712537 19712538 rs140037015 0 + G G C/G/T genomic single by-frequency,by-1000genomes 0.002394 0.034521 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 C,G,T, 1.000000,5002.000000,5.000000, 0.000200,0.998802,0.000998, 735 chr21 19712561 19712565 rs749418670 0 + GGAA GGAA -/GGAA genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 735 chr21 19712579 19712580 rs11908859 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,WEILL_CORNELL_DGM, 2 G,T, 4988.000000,20.000000, 0.996006,0.003994, 735 chr21 19712602 19712603 rs780208519 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19712670 19712671 rs531561026 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19712673 19712674 rs528137483 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19712677 19712678 rs151244552 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19712682 19712683 rs192638287 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19712705 19712706 rs139322014 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 735 chr21 19712752 19712753 rs757460512 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19712820 19712821 rs548336383 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19712846 19712848 rs746911395 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19712855 19712856 rs547813694 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19712896 19712897 rs566333951 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19712943 19712944 rs779039514 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19712948 19712949 rs867984837 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19712980 19712981 rs746794134 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713007 19713010 rs533877914 0 + AGT AGT -/AGT genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 1 1000GENOMES, 2 -,AGT, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19713041 19713068 rs6147433 0 + ACTCCTTAAGAAGCCCACAAAAACCTC ACTCCTTAAGAAGCCCACAAAAACCTC -/ACTCCTTAAGAAGCCCACAAAAACCTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.229136 0.249128 intron range 1 8 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER, 2 -,ACTCCTTAAGAAGCCCACAAAAACCTC, 661.000000,4347.000000, 0.131989,0.868011, maf-5-some-pop,maf-5-all-pops 735 chr21 19713042 19713069 rs55901975 0 + CTCCTTAAGAAGCCCACAAAAACCTCA CTCCTTAAGAAGCCCACAAAAACCTCA -/CTCCTTAAGAAGCCCACAAAAACCTCA genomic deletion by-cluster 0 0 intron range 1 2 HGSV,TISHKOFF, 0 735 chr21 19713054 19713055 rs4452233 0 + C C A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.141596 0.225274 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 11 1000GENOMES,BUSHMAN,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,SC_JCM,SSMP, 2 C,G, 4624.000000,384.000000, 0.923323,0.076677, maf-5-some-pop 735 chr21 19713082 19713082 rs71318138 0 + - - -/C genomic insertion unknown 0.5 0 intron between 1 1 HUMANGENOME_JCVI, 2 -,C, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19713103 19713104 rs558478438 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19713106 19713107 rs189639658 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19713138 19713139 rs780944787 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19713194 19713195 rs567835622 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19713215 19713216 rs372371543 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19713260 19713261 rs574216137 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19713350 19713351 rs769740275 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713361 19713362 rs541379681 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19713371 19713371 rs556559859 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 intron between 1 1 1000GENOMES, 2 -,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19713377 19713377 rs368553421 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 735 chr21 19713428 19713433 rs555342188 0 + AGTGC AGTGC -/AGTGC genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,AGTGC, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19713437 19713438 rs553360567 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19713473 19713474 rs571755618 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19713490 19713491 rs55929900 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.111576 0.20818 intron exact 1 13 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 297.000000,4711.000000, 0.059305,0.940695, maf-5-some-pop 735 chr21 19713504 19713505 rs202147148 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19713514 19713515 rs531369056 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19713521 19713522 rs180696746 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19713526 19713527 rs150009156 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, 735 chr21 19713528 19713537 rs774320062 0 + CCACTGTGC CCACTGTGC -/CCACTGTGC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713531 19713532 rs556887930 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713535 19713536 rs529414218 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19713566 19713567 rs200262996 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19713573 19713574 rs547949643 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19713601 19713602 rs114198211 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4950.000000,58.000000, 0.988419,0.011582, 735 chr21 19713606 19713607 rs759934525 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713616 19713617 rs767706354 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713626 19713627 rs539324683 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19713627 19713628 rs183627242 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19713646 19713647 rs558654435 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,EVA_GENOME_DK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19713647 19713648 rs761213432 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713669 19713670 rs537221330 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19713689 19713690 rs757960137 0 + A A A/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,T, 121119.000000,1.000000, 0.999992,0.000008, 735 chr21 19713693 19713694 rs779657017 0 + A A A/C genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,C, 121127.000000,1.000000, 0.999992,0.000008, 735 chr21 19713704 19713705 rs751244556 0 + C C A/C genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121161.000000, 0.000008,0.999992, 735 chr21 19713709 19713710 rs371533040 0 + T T C/T genomic single by-cluster,by-frequency 0.000033 0.004062 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,121194.000000, 0.000017,0.999983, 735 chr21 19713712 19713713 rs113725651 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19713719 19713720 rs147834777 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000033 0.004061 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 4.000000,126238.000000, 0.000032,0.999968, 735 chr21 19713721 19713722 rs749692894 0 + T T C/T genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121239.000000, 0.000008,0.999992, 735 chr21 19713724 19713725 rs771466704 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_EXAC, 0 735 chr21 19713725 19713726 rs767550386 0 + T T -/T genomic deletion unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 -,T, 1.000000,121246.000000, 0.000008,0.999992, 735 chr21 19713726 19713727 rs201009477 0 + T T C/G/T genomic single by-cluster 0.000033 0.004061 intron exact 1 SingleClassTriAllelic 2 CLINSEQ_SNP,EVA_EXAC, 3 C,G,T, 1.000000,1.000000,121244.000000, 0.000008,0.000008,0.999983, 735 chr21 19713731 19713732 rs764728515 0 + G G A/G genomic single unknown 0.000016 0.002872 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,121269.000000, 0.000008,0.999992, 735 chr21 19713741 19713742 rs775810588 0 + G G A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121303.000000, 0.000008,0.999992, 735 chr21 19713743 19713744 rs368823859 0 + G G A/G genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 A,G, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19713761 19713762 rs747253707 0 + G G A/G genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121347.000000, 0.000008,0.999992, 735 chr21 19713764 19713765 rs202066879 0 + G G A/C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001137 0.023814 missense exact 1 SingleClassQuadAllelic 4 1000GENOMES,CLINSEQ_SNP,EVA_EXAC,ILLUMINA, 4 A,C,G,T, 64.000000,6.000000,126285.000000,1.000000, 0.000507,0.000047,0.999438,0.000008, rs-cluster-nonoverlapping-alleles 735 chr21 19713765 19713766 rs535174161 0 + G G A/G genomic single by-1000genomes 0.000016 0.002871 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 2.000000,126358.000000, 0.000016,0.999984, 735 chr21 19713770 19713771 rs773071181 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121357.000000, 0.000008,0.999992, 735 chr21 19713778 19713779 rs762418341 0 + A A A/G genomic single by-frequency 0.000033 0.004059 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121358.000000,2.000000, 0.999984,0.000016, 735 chr21 19713782 19713783 rs113178154 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002995 0.03858 missense exact 1 10 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_EXAC,EXOME_CHIP,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 126162.000000,212.000000, 0.998322,0.001678, 735 chr21 19713788 19713789 rs751154905 0 + C C A/C genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 A,C, 2.000000,121368.000000, 0.000016,0.999984, 735 chr21 19713796 19713797 rs754631821 0 + A A A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121371.000000,1.000000, 0.999992,0.000008, 735 chr21 19713797 19713798 rs767144283 0 + T T C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121375.000000, 0.000008,0.999992, 735 chr21 19713801 19713802 rs775202094 0 + T T -/T genomic deletion by-cluster,by-frequency 0.000033 0.004059 frameshift exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 2.000000,121372.000000, 0.000016,0.999984, 735 chr21 19713804 19713805 rs537737617 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003783 0.043326 coding-synon,missense exact 1 SingleClassTriAllelic 4 1000GENOMES,EVA_EXAC,JMKIDD_LAB,SSIP, 3 A,C,G, 237.000000,2.000000,126147.000000, 0.001875,0.000016,0.998109, 735 chr21 19713806 19713807 rs779448631 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121381.000000,1.000000, 0.999992,0.000008, 735 chr21 19713810 19713811 rs140560081 0 + T T C/T genomic single by-cluster 0.000033 0.004059 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,121378.000000, 0.000016,0.999984, 735 chr21 19713820 19713821 rs2824751 0 + C C A/C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.348981 0.231205 coding-synon exact 1 SingleClassTriAllelic 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 200.000000,98167.000000,28005.000000, 0.001583,0.776810,0.221608, maf-5-some-pop,microattr-tpa 735 chr21 19713822 19713823 rs576287723 0 + C C C/T genomic single by-1000genomes 0.000082 0.006417 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 126384.000000,6.000000, 0.999953,0.000047, 735 chr21 19713833 19713834 rs768916512 0 + A A A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 121375.000000,1.000000, 0.999992,0.000008, 735 chr21 19713841 19713842 rs757326873 0 + G G A/G genomic single unknown 0.000016 0.00287 coding-synon exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,121363.000000, 0.000008,0.999992, 735 chr21 19713842 19713843 rs747951372 0 + T T C/T genomic single by-frequency 0.000099 0.00703 missense exact 1 1 EVA_EXAC, 2 C,T, 6.000000,121360.000000, 0.000049,0.999951, 735 chr21 19713852 19713853 rs769516018 0 + C C C/T genomic single by-frequency 0.000082 0.006418 missense exact 1 1 EVA_EXAC, 2 C,T, 121357.000000,5.000000, 0.999959,0.000041, 735 chr21 19713856 19713856 rs755690856 0 + - - -/A genomic insertion by-frequency 0.000033 0.004059 frameshift between 1 1 EVA_EXAC, 2 -,A, 121360.000000,2.000000, 0.999984,0.000016, 735 chr21 19713874 19713875 rs773161368 0 + A A A/G genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 A,G, 121321.000000,1.000000, 0.999992,0.000008, 735 chr21 19713880 19713881 rs762891954 0 + G G G/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 G,T, 121305.000000,1.000000, 0.999992,0.000008, 735 chr21 19713881 19713882 rs765810638 0 + C C A/C genomic single by-frequency 0.000049 0.004973 intron exact 1 1 EVA_EXAC, 2 A,C, 3.000000,121297.000000, 0.000025,0.999975, 735 chr21 19713890 19713891 rs376716677 0 + C C A/C/T genomic single by-cluster,by-frequency 0.000181 0.009522 intron exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 A,C,T, 1.000000,121255.000000,10.000000, 0.000008,0.999909,0.000082, 735 chr21 19713891 19713892 rs767178876 0 + G G A/G/T genomic single by-cluster 0.000016 0.002872 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 EVA_EXAC,YSAMUELS, 2 G,T, 121261.000000,1.000000, 0.999992,0.000008, 735 chr21 19713900 19713901 rs752336144 0 + C C A/C genomic single unknown 0.000016 0.002872 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121215.000000, 0.000008,0.999992, 735 chr21 19713902 19713903 rs370018286 0 + A A A/T genomic single by-cluster,by-frequency 0.000049 0.004974 intron exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,T, 121221.000000,3.000000, 0.999975,0.000025, 735 chr21 19713910 19713911 rs765537960 0 + C C C/G genomic single by-frequency 0.000033 0.004063 intron exact 1 1 EVA_EXAC, 2 C,G, 121148.000000,2.000000, 0.999983,0.000017, 735 chr21 19713914 19713915 rs189301007 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00005 0.004976 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 5.000000,126133.000000, 0.000040,0.999960, 735 chr21 19713915 19713916 rs758975101 0 + C C A/C genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121119.000000, 0.000008,0.999992, 735 chr21 19713919 19713920 rs761239567 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19713938 19713939 rs561853028 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19713962 19713963 rs573932539 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19713973 19713974 rs750675029 0 + G G G/T genomic single unknown 0 0 intron exact 1 3 EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19713974 19713975 rs115140011 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 94.000000,4914.000000, 0.018770,0.981230, maf-5-some-pop 735 chr21 19713996 19713997 rs559922275 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19714020 19714021 rs866354448 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19714055 19714056 rs533142870 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19714056 19714057 rs551776627 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19714060 19714061 rs116500713 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19714119 19714120 rs558636622 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19714124 19714125 rs2824752 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.312104 0.242163 intron exact 1 23 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 969.000000,4039.000000, 0.193490,0.806510, maf-5-some-pop,genotype-conflict 735 chr21 19714158 19714159 rs554672620 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714168 19714169 rs549307944 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19714207 19714208 rs567498257 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714218 19714219 rs777727956 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714221 19714222 rs534921743 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714247 19714248 rs748809941 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714278 19714279 rs7275641 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.081811 0.184966 intron exact 1 8 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 735 chr21 19714291 19714292 rs565788371 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19714300 19714301 rs182002063 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19714327 19714328 rs557741791 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19714328 19714329 rs762206473 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19714335 19714336 rs774050254 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714371 19714372 rs369211052 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714427 19714428 rs537336511 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19714434 19714435 rs759050408 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714474 19714475 rs555730357 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714502 19714503 rs765652109 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19714512 19714513 rs771871839 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714513 19714514 rs573867679 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714515 19714516 rs750565523 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19714531 19714532 rs758680366 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19714540 19714541 rs375619724 0 + G G AA/G genomic in-del unknown 0 0 intron rangeInsertion 1 FlankMismatchGenomeLonger 1 TISHKOFF, 0 735 chr21 19714570 19714571 rs141291664 0 + T T C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714574 19714575 rs147010736 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714576 19714577 rs775955794 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714611 19714612 rs761161996 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714629 19714630 rs557644506 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19714675 19714676 rs578052296 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19714689 19714690 rs371571255 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19714719 19714720 rs764669322 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714743 19714744 rs543172809 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19714758 19714759 rs147633866 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19714773 19714774 rs149036851 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19714789 19714790 rs373516440 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19714791 19714792 rs143045299 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19714793 19714794 rs148187268 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714804 19714805 rs77399590 0 + C C A/C genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19714810 19714811 rs62214961 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.325799 0.238232 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 1026.000000,3982.000000, 0.204872,0.795128, maf-5-some-pop,maf-5-all-pops 735 chr21 19714827 19714828 rs546792224 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19714840 19714841 rs186697513 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19714871 19714872 rs190362526 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19714872 19714873 rs750531887 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714879 19714880 rs758503560 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714881 19714882 rs17002579 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 intron exact 1 4 1000GENOMES,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 65.000000,4943.000000, 0.012979,0.987021, 735 chr21 19714903 19714904 rs766623641 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19714932 19714933 rs868764176 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19714940 19714941 rs145334090 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19714961 19714962 rs181813425 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19715001 19715002 rs76495250 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19715077 19715078 rs755953379 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19715105 19715106 rs559668733 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19715114 19715115 rs777674803 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19715115 19715116 rs749252362 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19715238 19715239 rs781174235 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19715242 19715243 rs7276084 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 735 chr21 19715256 19715257 rs2210229 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.055478 0.157039 intron exact 1 10 1000GENOMES,ABI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 4865.000000,143.000000, 0.971446,0.028554, maf-5-some-pop 735 chr21 19715321 19715322 rs534763707 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19715354 19715355 rs778236069 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19715360 19715361 rs186375169 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19715383 19715384 rs138418885 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, 735 chr21 19715431 19715432 rs745413299 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19715471 19715472 rs190284434 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19715567 19715568 rs771818631 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19715617 19715618 rs557208567 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19715634 19715635 rs182107652 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19715694 19715695 rs373363934 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19715705 19715706 rs561198443 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19715708 19715710 rs541140717 0 + AA AA -/AA genomic deletion by-frequency,by-1000genomes 0.006766 0.057769 intron range 1 1 1000GENOMES, 2 -,AA, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19715727 19715728 rs546091656 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19715734 19715735 rs565006156 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19715760 19715761 rs528768269 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19715765 19715766 rs540562979 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19715773 19715774 rs780769942 0 + T T C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121135.000000, 0.000008,0.999992, 735 chr21 19715774 19715775 rs565470544 0 + T T C/T genomic single by-1000genomes 0.000081 0.006378 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 5.000000,103327.000000, 0.000048,0.999952, 735 chr21 19715776 19715777 rs755060748 0 + C C C/T genomic single by-frequency 0.000163 0.00903 intron exact 1 1 EVA_EXAC, 2 C,T, 98072.000000,8.000000, 0.999918,0.000082, 735 chr21 19715778 19715779 rs781444604 0 + C C C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 121171.000000,1.000000, 0.999992,0.000008, 735 chr21 19715788 19715789 rs748348933 0 + G G G/T genomic single unknown 0.00002 0.00317 intron exact 1 1 EVA_EXAC, 2 G,T, 99507.000000,1.000000, 0.999990,0.000010, 735 chr21 19715798 19715799 rs769574661 0 + T T A/T genomic single by-frequency 0.000079 0.006268 intron exact 1 1 EVA_EXAC, 2 A,T, 4.000000,101798.000000, 0.000039,0.999961, 735 chr21 19715800 19715801 rs777549898 0 + A A A/G genomic single unknown 0.000019 0.003121 intron exact 1 1 EVA_EXAC, 2 A,G, 102687.000000,1.000000, 0.999990,0.000010, 735 chr21 19715801 19715802 rs376507413 0 + A A A/G genomic single by-cluster,by-frequency 0.000543 0.016464 intron exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 103134.000000,28.000000, 0.999729,0.000271, 735 chr21 19715810 19715811 rs770844067 0 + T T C/T genomic single unknown 0.000018 0.003034 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,108613.000000, 0.000009,0.999991, 735 chr21 19715817 19715818 rs774324787 0 + C C C/T genomic single unknown 0.000018 0.002981 intron exact 1 1 EVA_EXAC, 2 C,T, 112545.000000,1.000000, 0.999991,0.000009, 735 chr21 19715818 19715819 rs759018607 0 + A A A/C genomic single unknown 0.000018 0.002972 intron exact 1 1 EVA_EXAC, 2 A,C, 113189.000000,1.000000, 0.999991,0.000009, 735 chr21 19715820 19715821 rs138221037 0 + A A A/C genomic single by-cluster,by-1000genomes 0.001489 0.027246 splice-5 exact 1 7 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_EXAC,EVA_MGP,EXOME_CHIP,ILLUMINA, 2 A,C, 119000.000000,86.000000, 0.999278,0.000722, 735 chr21 19715826 19715827 rs775163227 0 + A A A/G/T genomic single by-frequency 0.000034 0.00415 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 116100.000000,1.000000,1.000000, 0.999983,0.000009,0.000009, 735 chr21 19715829 19715830 rs201966028 0 + T T G/T genomic single by-cluster 0.00012 0.007741 missense exact 1 5 CLINSEQ_SNP,EVA_DECODE,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 7.000000,116781.000000, 0.000060,0.999940, 735 chr21 19715847 19715848 rs750810304 0 + G G G/T genomic single by-frequency 0.000033 0.004088 missense exact 1 1 EVA_EXAC, 2 G,T, 119646.000000,2.000000, 0.999983,0.000017, 735 chr21 19715852 19715853 rs763467135 0 + T T C/T genomic single unknown 0.000017 0.002887 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,119969.000000, 0.000008,0.999992, 735 chr21 19715854 19715855 rs200407714 0 + G G G/T genomic single by-cluster 0.000017 0.002886 missense exact 1 2 CLINSEQ_SNP,EVA_EXAC, 2 G,T, 120081.000000,1.000000, 0.999992,0.000008, 735 chr21 19715855 19715856 rs752151511 0 + T T G/T genomic single by-frequency 0.00005 0.004997 coding-synon exact 1 1 EVA_EXAC, 2 G,T, 3.000000,120119.000000, 0.000025,0.999975, 735 chr21 19715857 19715858 rs267606083 0 + C C C/T genomic single by-cluster 0 0 missense exact 1 1 YSAMUELS, 0 clinically-assoc,submitted-by-lsdb 735 chr21 19715858 19715859 rs755045381 0 + A A A/G genomic single by-frequency 0.0001 0.007063 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120254.000000,6.000000, 0.999950,0.000050, 735 chr21 19715859 19715860 rs781154385 0 + T T C/T genomic single by-cluster,by-frequency 0.000033 0.004076 missense exact 1 2 EVA_EXAC,WEILL_CORNELL_DGM, 2 C,T, 2.000000,120358.000000, 0.000017,0.999983, 735 chr21 19715864 19715865 rs752898682 0 + C C C/T genomic single unknown 0.000017 0.002881 nonsense exact 1 1 EVA_EXAC, 2 C,T, 120473.000000,1.000000, 0.999992,0.000008, 735 chr21 19715867 19715868 rs756286397 0 + A A A/G genomic single unknown 0.000017 0.00288 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120577.000000,1.000000, 0.999992,0.000008, 735 chr21 19715869 19715870 rs373594153 0 + T T C/T genomic single by-cluster,by-frequency 0.000033 0.004072 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 2.000000,120616.000000, 0.000017,0.999983, 735 chr21 19715873 19715874 rs749057741 0 + T T A/T genomic single unknown 0.000017 0.002879 coding-synon exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120671.000000, 0.000008,0.999992, 735 chr21 19715892 19715893 rs201371507 0 + T T G/T genomic single by-cluster 0.000017 0.002875 missense exact 1 2 CLINSEQ_SNP,EVA_EXAC, 2 G,T, 1.000000,120947.000000, 0.000008,0.999992, 735 chr21 19715896 19715897 rs778779258 0 + A A A/T genomic single by-frequency 0.000066 0.005749 missense exact 1 1 EVA_EXAC, 2 A,T, 120996.000000,4.000000, 0.999967,0.000033, 735 chr21 19715899 19715900 rs551443895 0 + C C C/G genomic single by-1000genomes 0.000017 0.002875 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 126022.000000,2.000000, 0.999984,0.000016, 735 chr21 19715900 19715900 rs765937590 0 + - - -/T genomic insertion unknown 0.000099 0.00704 frameshift between 1 1 EVA_EXAC, 2 -,T, 121015.000000,6.000000, 0.999950,0.000050, 735 chr21 19715902 19715903 rs202105439 0 + T T C/T genomic single by-cluster 0.000017 0.002874 missense exact 1 3 CLINSEQ_SNP,EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121047.000000, 0.000008,0.999992, 735 chr21 19715906 19715907 rs774871192 0 + C C A/C genomic single unknown 0.000017 0.002874 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121077.000000, 0.000008,0.999992, 735 chr21 19715908 19715909 rs200310332 0 + C C C/T genomic single unknown 0 0 missense exact 1 1 GOLDSTEINLAB, 0 735 chr21 19715910 19715911 rs78070123 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001452 0.026908 missense exact 1 7 1000GENOMES,EVA_EXAC,EXOME_CHIP,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,NHLBI-ESP, 2 A,G, 126003.000000,105.000000, 0.999167,0.000833, 735 chr21 19715922 19715923 rs768413094 0 + T T C/T genomic single by-frequency 0.000033 0.004063 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121128.000000, 0.000017,0.999983, 735 chr21 19715923 19715924 rs377563522 0 + T T C/T genomic single by-cluster,by-frequency 0.000083 0.006424 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 5.000000,121133.000000, 0.000041,0.999959, 735 chr21 19715925 19715926 rs763380744 0 + C C A/C genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121139.000000, 0.000008,0.999992, 735 chr21 19715928 19715929 rs766881927 0 + A A A/G genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 A,G, 121147.000000,1.000000, 0.999992,0.000008, 735 chr21 19715932 19715933 rs752063923 0 + T T C/T genomic single by-frequency 0.000033 0.004063 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121142.000000, 0.000017,0.999983, 735 chr21 19715935 19715936 rs200413486 0 + T T C/T genomic single by-cluster 0.000017 0.002873 missense exact 1 2 CLINSEQ_SNP,EVA_EXAC, 2 C,T, 1.000000,121145.000000, 0.000008,0.999992, 735 chr21 19715937 19715938 rs762171433 0 + C C C/T genomic single by-frequency 0.000066 0.005746 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 121138.000000,4.000000, 0.999967,0.000033, 735 chr21 19715938 19715938 rs777653277 0 + - - -/T genomic insertion unknown 0 0 frameshift between 1 1 EVA_DECODE, 0 735 chr21 19715946 19715947 rs61735771 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004053 0.044835 missense exact 1 9 1000GENOMES,CORNELL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,JMKIDD_LAB,NHLBI-ESP, 2 C,T, 273.000000,125873.000000, 0.002164,0.997836, maf-5-some-pop 735 chr21 19715949 19715950 rs756265110 0 + A A A/C genomic single by-frequency 0.00005 0.004976 missense exact 1 1 EVA_EXAC, 2 A,C, 121129.000000,3.000000, 0.999975,0.000025, 735 chr21 19715950 19715951 rs777938605 0 + C C C/T genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,T, 121125.000000,1.000000, 0.999992,0.000008, 735 chr21 19715967 19715968 rs754087760 0 + T T A/T genomic single unknown 0.000017 0.002874 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,121091.000000, 0.000008,0.999992, 735 chr21 19715969 19715970 rs756993508 0 + A A A/G genomic single unknown 0.000017 0.002874 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121089.000000,1.000000, 0.999992,0.000008, 735 chr21 19715974 19715975 rs778689394 0 + T T C/T genomic single by-frequency 0.00005 0.004978 splice-3 exact 1 1 EVA_EXAC, 2 C,T, 3.000000,121067.000000, 0.000025,0.999975, 735 chr21 19715987 19715988 rs549004943 0 + A A A/G genomic single by-1000genomes 0.00005 0.004979 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 126014.000000,4.000000, 0.999968,0.000032, 735 chr21 19715998 19715999 rs142930372 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00406 0.044872 intron exact 1 6 1000GENOMES,EVA_EXAC,ILLUMINA,NHLBI-ESP,SSMP,WARNICH_LAB, 2 C,T, 271.000000,125673.000000, 0.002152,0.997848, 735 chr21 19716010 19716011 rs146158551 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000761 0.01949 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_EXAC,JMKIDD_LAB, 3 A,C,G, 125832.000000,1.000000,47.000000, 0.999619,0.000008,0.000373, 735 chr21 19716017 19716018 rs768323414 0 + G G A/G genomic single by-frequency 0.00005 0.004983 intron exact 1 1 EVA_EXAC, 2 A,G, 3.000000,120789.000000, 0.000025,0.999975, 735 chr21 19716019 19716020 rs776384368 0 + A A A/G genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 A,G, 120775.000000,1.000000, 0.999992,0.000008, 735 chr21 19716024 19716025 rs747825673 0 + T T A/T genomic single unknown 0.000017 0.002878 intron exact 1 MixedObserved 1 EVA_EXAC, 2 A,T, 1.000000,120713.000000, 0.000008,0.999992, 735 chr21 19716024 19716026 rs753576236 0 + TC TC -/TC genomic deletion unknown 0.000017 0.002878 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,TC, 1.000000,120697.000000, 0.000008,0.999992, 735 chr21 19716029 19716030 rs370110169 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716046 19716047 rs191002773 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19716081 19716082 rs538470875 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716096 19716097 rs557397333 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19716101 19716102 rs62214962 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 735 chr21 19716116 19716117 rs575336510 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716124 19716125 rs542569775 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716136 19716137 rs554531702 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19716151 19716152 rs572945081 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716155 19716156 rs763065453 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716158 19716159 rs868631285 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19716225 19716226 rs374462144 0 + T T C/T genomic single by-cluster 0.000017 0.002877 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,120781.000000, 0.000008,0.999992, 735 chr21 19716228 19716229 rs774574792 0 + C C C/T genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 C,T, 120775.000000,1.000000, 0.999992,0.000008, 735 chr21 19716233 19716234 rs760002285 0 + T T A/T genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120770.000000, 0.000008,0.999992, 735 chr21 19716234 19716234 rs754554677 0 + - - -/A genomic insertion unknown 0.000017 0.002877 intron between 1 1 EVA_EXAC, 2 -,A, 120770.000000,1.000000, 0.999992,0.000008, 735 chr21 19716238 19716239 rs767886875 0 + A A A/C genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 A,C, 120773.000000,1.000000, 0.999992,0.000008, 735 chr21 19716240 19716241 rs776101969 0 + G G G/T genomic single unknown 0.000017 0.002878 intron exact 1 1 EVA_EXAC, 2 G,T, 120761.000000,1.000000, 0.999992,0.000008, 735 chr21 19716242 19716243 rs373808758 0 + C C C/G genomic single by-cluster,by-frequency 0.000364 0.013491 intron exact 1 3 EVA-GONL,EVA_EXAC,NHLBI-ESP, 2 C,G, 120738.000000,22.000000, 0.999818,0.000182, 735 chr21 19716244 19716245 rs540896622 0 + G G G/T genomic single by-1000genomes 0.000017 0.002878 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 125760.000000,2.000000, 0.999984,0.000016, 735 chr21 19716245 19716246 rs201343676 0 + C C C/G genomic single by-cluster 0.000083 0.006434 intron exact 1 2 CLINSEQ_SNP,EVA_EXAC, 2 C,G, 120745.000000,5.000000, 0.999959,0.000041, 735 chr21 19716246 19716247 rs368798563 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000547 0.016521 intron exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,G, 35.000000,125705.000000, 0.000278,0.999722, 735 chr21 19716254 19716255 rs765514249 0 + A A A/T genomic single unknown 0.000017 0.002878 intron exact 1 1 EVA_EXAC, 2 A,T, 120709.000000,1.000000, 0.999992,0.000008, 735 chr21 19716256 19716257 rs750175440 0 + G G A/G genomic single unknown 0.000017 0.002878 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120699.000000, 0.000008,0.999992, 735 chr21 19716259 19716269 rs779400548 0 + TCTACAACAT TCTACAACAT -/TCTACAACAT genomic deletion unknown 0.000017 0.002878 intron range 1 1 EVA_EXAC, 2 -,TCTACAACAT, 1.000000,120693.000000, 0.000008,0.999992, 735 chr21 19716269 19716270 rs758264502 0 + A A A/G genomic single unknown 0.000017 0.002879 splice-5 exact 1 1 EVA_EXAC, 2 A,G, 120659.000000,1.000000, 0.999992,0.000008, 735 chr21 19716274 19716275 rs779827707 0 + A A A/C genomic single unknown 0.000017 0.002879 missense exact 1 1 EVA_EXAC, 2 A,C, 120639.000000,1.000000, 0.999992,0.000008, 735 chr21 19716281 19716282 rs746999425 0 + G G A/G genomic single by-frequency 0.000033 0.004072 missense exact 1 1 EVA_EXAC, 2 A,G, 2.000000,120610.000000, 0.000017,0.999983, 735 chr21 19716283 19716284 rs754489997 0 + C C A/C genomic single by-frequency 0.000116 0.007618 missense exact 1 1 EVA_EXAC, 2 A,C, 7.000000,120583.000000, 0.000058,0.999942, 735 chr21 19716294 19716295 rs780863674 0 + C C C/T genomic single by-frequency 0.000033 0.004073 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 120534.000000,2.000000, 0.999983,0.000017, 735 chr21 19716299 19716300 rs747727417 0 + T T A/T genomic single unknown 0.000017 0.00288 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120517.000000, 0.000008,0.999992, 735 chr21 19716302 19716303 rs371189471 0 + G G A/G genomic single by-cluster,by-frequency 0.000083 0.006441 missense exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 5.000000,120499.000000, 0.000041,0.999959, 735 chr21 19716304 19716305 rs577336108 0 + T T C/T genomic single by-1000genomes 0.000017 0.002881 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,125502.000000, 0.000016,0.999984, 735 chr21 19716306 19716307 rs746186136 0 + C C A/C genomic single unknown 0.000017 0.002881 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120481.000000, 0.000008,0.999992, 735 chr21 19716312 19716313 rs772516367 0 + G G A/G genomic single unknown 0.000017 0.002882 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120429.000000, 0.000008,0.999992, 735 chr21 19716313 19716314 rs376523498 0 + A A A/T genomic single by-cluster 0.000017 0.002882 missense exact 1 2 EVA_EXAC,TISHKOFF, 2 A,T, 120421.000000,1.000000, 0.999992,0.000008, 735 chr21 19716325 19716326 rs761180914 0 + C C C/T genomic single unknown 0.000017 0.002882 missense exact 1 1 EVA_EXAC, 2 C,T, 120349.000000,1.000000, 0.999992,0.000008, 735 chr21 19716331 19716332 rs764089811 0 + C C C/T genomic single by-frequency 0.00005 0.004993 missense exact 1 1 EVA_EXAC, 2 C,T, 120327.000000,3.000000, 0.999975,0.000025, 735 chr21 19716332 19716333 rs776691605 0 + G G A/G genomic single by-frequency 0.00005 0.004993 nonsense exact 1 1 EVA_EXAC, 2 A,G, 3.000000,120319.000000, 0.000025,0.999975, 735 chr21 19716339 19716340 rs761943278 0 + T T G/T genomic single by-frequency 0.000033 0.004077 missense exact 1 1 EVA_EXAC, 2 G,T, 2.000000,120282.000000, 0.000017,0.999983, 735 chr21 19716340 19716341 rs765358847 0 + C C C/T genomic single unknown 0.000017 0.002883 missense exact 1 1 EVA_EXAC, 2 C,T, 120271.000000,1.000000, 0.999992,0.000008, 735 chr21 19716344 19716345 rs141821069 0 + C C C/T genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 C,T, 13005.000000,1.000000, 0.999923,0.000077, 735 chr21 19716346 19716347 rs80073031 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000233 0.010788 missense exact 1 5 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,T, 125219.000000,15.000000, 0.999880,0.000120, 735 chr21 19716350 19716351 rs148444544 0 + G G C/G genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 C,G, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19716353 19716354 rs758090149 0 + C C C/T genomic single unknown 0.000017 0.002886 missense exact 1 1 EVA_EXAC, 2 C,T, 120097.000000,1.000000, 0.999992,0.000008, 735 chr21 19716355 19716356 rs368235009 0 + G G C/G genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 C,G, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19716358 19716359 rs748444944 0 + G G -/G genomic deletion unknown 0.000017 0.002886 frameshift exact 1 1 EVA_EXAC, 2 -,G, 1.000000,120019.000000, 0.000008,0.999992, 735 chr21 19716361 19716362 rs766220195 0 + G G A/G genomic single unknown 0.000017 0.002888 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,119869.000000, 0.000008,0.999992, 735 chr21 19716363 19716364 rs751396694 0 + A A A/G genomic single by-frequency 0.000033 0.004085 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 119820.000000,2.000000, 0.999983,0.000017, 735 chr21 19716364 19716365 rs371944765 0 + G G C/G genomic single by-cluster,by-frequency 0.000083 0.006459 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,G, 5.000000,119805.000000, 0.000042,0.999958, 735 chr21 19716376 19716377 rs142617767 0 + C C A/C genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 A,C, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19716380 19716381 rs781336073 0 + T T A/T genomic single unknown 0.000017 0.002904 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,118585.000000, 0.000008,0.999992, 735 chr21 19716389 19716390 rs752231584 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_EXAC, 0 735 chr21 19716390 19716391 rs778253879 0 + A A -/A genomic deletion unknown 0.000034 0.004131 intron exact 1 1 EVA_EXAC, 2 -,A, 2.000000,117161.000000, 0.000017,0.999983, 735 chr21 19716390 19716390 rs758701791 0 + - - -/A genomic insertion unknown 0.000034 0.004131 intron between 1 1 EVA_EXAC, 2 -,A, 2.000000,117161.000000, 0.000017,0.999983, 735 chr21 19716391 19716392 rs755723716 0 + A A A/T genomic single unknown 0.000017 0.002926 intron exact 1 1 EVA_EXAC, 2 A,T, 116799.000000,1.000000, 0.999991,0.000009, 735 chr21 19716398 19716399 rs78573401 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.109746 0.206951 intron exact 1 11 1000GENOMES,ENSEMBL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,NHLBI-ESP,WEILL_CORNELL_DGM, 2 A,T, 6869.000000,113073.000000, 0.057269,0.942731, maf-5-some-pop 735 chr21 19716415 19716416 rs748989528 0 + T T C/T genomic single by-frequency 0.000108 0.007334 intron exact 1 1 EVA_EXAC, 2 C,T, 6.000000,111506.000000, 0.000054,0.999946, 735 chr21 19716418 19716419 rs772263269 0 + C C C/T genomic single by-frequency 0.000036 0.004256 intron exact 1 1 EVA_EXAC, 2 C,T, 110390.000000,2.000000, 0.999982,0.000018, 735 chr21 19716427 19716428 rs780466437 0 + T T C/T genomic single by-frequency 0.000018 0.003033 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,108669.000000, 0.000009,0.999991, 735 chr21 19716428 19716429 rs747444506 0 + G G G/T genomic single by-frequency 0.000037 0.004304 intron exact 1 1 EVA_EXAC, 2 G,T, 107948.000000,2.000000, 0.999981,0.000019, 735 chr21 19716454 19716455 rs755900362 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716468 19716469 rs373858390 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19716470 19716471 rs184162357 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19716471 19716472 rs188864180 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19716472 19716473 rs193039298 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19716477 19716478 rs113478298 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19716521 19716522 rs778946015 0 + C C C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716522 19716523 rs528121988 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716647 19716648 rs546838408 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19716654 19716655 rs571472723 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716725 19716726 rs530634891 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19716727 19716728 rs1028979 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.469445 0.119766 intron exact 1 29 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 G,T, 1885.000000,3123.000000, 0.376398,0.623602, maf-5-some-pop,maf-5-all-pops 735 chr21 19716777 19716778 rs570256314 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716781 19716782 rs765482398 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19716800 19716801 rs111820656 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 735 chr21 19716864 19716865 rs1023384 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.015454 0.086534 intron exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, maf-5-some-pop 735 chr21 19716869 19716870 rs183468235 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19716879 19716881 rs753291853 0 + AC AC -/AC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716889 19716890 rs186831047 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19716895 19716896 rs768433848 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716897 19716898 rs773668788 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19716908 19716909 rs536342351 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19716910 19716911 rs2154691 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.173965 0.238157 intron exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 4526.000000,482.000000, 0.903754,0.096246, maf-5-some-pop,genotype-conflict 735 chr21 19716935 19716936 rs1023385 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.311369 0.242351 intron exact 1 19 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,YUSUKE, 2 A,T, 4042.000000,966.000000, 0.807109,0.192891, maf-5-some-pop 735 chr21 19716951 19716952 rs565914982 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716952 19716953 rs773822285 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19716960 19716961 rs533958460 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717023 19717024 rs559178668 0 + A A A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717025 19717026 rs191864342 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19717045 19717046 rs751635545 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19717048 19717049 rs1023386 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.38286 0.211774 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 3716.000000,1292.000000, 0.742013,0.257987, maf-5-some-pop,maf-5-all-pops 735 chr21 19717049 19717050 rs867732942 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19717051 19717052 rs563063945 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717066 19717067 rs575133740 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717091 19717092 rs537528562 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19717104 19717105 rs767606767 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19717132 19717133 rs554551933 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19717136 19717137 rs774421236 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19717137 19717138 rs9978705 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.007559 0.061011 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 735 chr21 19717172 19717173 rs560981220 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717205 19717206 rs528063892 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717208 19717209 rs13049231 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19717213 19717214 rs1023387 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.382666 0.211895 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 3717.000000,1291.000000, 0.742212,0.257788, maf-5-some-pop 735 chr21 19717217 19717218 rs183585015 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19717240 19717241 rs1023388 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.412583 0.189912 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 3551.000000,1457.000000, 0.709065,0.290935, maf-5-some-pop,genotype-conflict 735 chr21 19717242 19717243 rs550897329 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717266 19717267 rs536859608 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19717276 19717277 rs568686342 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717279 19717280 rs188278414 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717285 19717286 rs556843467 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19717293 19717294 rs192417800 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717295 19717296 rs144705035 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19717297 19717298 rs765072667 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19717308 19717309 rs777406340 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19717327 19717328 rs571187479 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19717332 19717333 rs750452417 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19717333 19717334 rs558692436 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717344 19717345 rs577209335 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717366 19717367 rs538155281 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19717368 19717369 rs753722337 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19717411 19717412 rs577000022 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19717419 19717420 rs779651208 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19717488 19717489 rs372121024 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19717507 19717508 rs575070892 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19717516 19717517 rs778637803 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19717532 19717533 rs9305862 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.096293 0.197165 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 254.000000,4754.000000, 0.050719,0.949281, maf-5-some-pop 735 chr21 19717577 19717578 rs185587212 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19717608 19717609 rs572860022 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19717621 19717622 rs572864870 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717630 19717631 rs369082374 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19717633 19717634 rs2824753 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.276267 0.248616 intron exact 1 16 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4179.000000,829.000000, 0.834465,0.165535, maf-5-some-pop,genotype-conflict 735 chr21 19717634 19717635 rs561670857 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19717670 19717671 rs190456682 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717672 19717673 rs562456070 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19717673 19717674 rs112896188 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19717684 19717685 rs529814352 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19717775 19717776 rs530593333 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19717779 19717780 rs550666362 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19717783 19717784 rs563718591 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19717785 19717786 rs547987279 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19717828 19717829 rs566587617 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19717829 19717830 rs532772413 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19717831 19717832 rs527776684 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19717874 19717875 rs181640996 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 735 chr21 19717876 19717877 rs7282782 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.084 0.186933 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 220.000000,4788.000000, 0.043930,0.956070, maf-5-some-pop 735 chr21 19717885 19717886 rs538272565 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19717889 19717890 rs71319687 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19717893 19717894 rs7283355 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.095216 0.196321 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 251.000000,4757.000000, 0.050120,0.949880, maf-5-some-pop 735 chr21 19717907 19717908 rs7283358 0 + A A A/G/T genomic single by-cluster,by-2hit-2allele,by-1000genomes 0.375 0.216506 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 14 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1.000000,3.000000, 0.250000,0.750000, 735 chr21 19717913 19717914 rs11702334 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.415563 0.18732 intron exact 1 17 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3533.000000,1475.000000, 0.705471,0.294529, maf-5-some-pop,maf-5-all-pops 735 chr21 19717925 19717926 rs536014574 0 + C C C/T genomic single by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 1 1000GENOMES, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 735 chr21 19717936 19717937 rs539810353 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,SSIP, 0 735 chr21 19717955 19717956 rs7283485 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.095216 0.196321 intron exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 251.000000,4757.000000, 0.050120,0.949880, maf-5-some-pop 735 chr21 19717988 19717989 rs13050218 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.197082 0.244335 intron exact 1 8 1000GENOMES,ABI,ENSEMBL,EVA-GONL,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 555.000000,4453.000000, 0.110823,0.889177, maf-5-some-pop 735 chr21 19718002 19718003 rs112899297 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 735 chr21 19718004 19718005 rs539658517 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 735 chr21 19718009 19718010 rs552902857 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19718013 19718014 rs573128530 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19718029 19718030 rs7283085 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.101301 0.200969 intron exact 1 MixedObserved 14 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 268.000000,4740.000000, 0.053514,0.946486, maf-5-some-pop 735 chr21 19718029 19718036 rs386816758 0 + CCTAGGC CCTAGGC CCTAGGC/TCTGGGA genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 735 chr21 19718032 19718033 rs71324231 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.103082 0.202275 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,HUMANGENOME_JCVI,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 273.000000,4735.000000, 0.054513,0.945487, maf-5-some-pop 735 chr21 19718034 19718035 rs529948602 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19718035 19718036 rs7283087 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.103082 0.202275 intron exact 1 12 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,HUMANGENOME_JCVI,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4735.000000,273.000000, 0.945487,0.054513, maf-5-some-pop 735 chr21 19718043 19718044 rs7278479 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.103438 0.202533 intron exact 1 MixedObserved 9 1000GENOMES,BCM_SSAHASNP,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4734.000000,274.000000, 0.945288,0.054713, maf-5-some-pop 735 chr21 19718043 19718045 rs386816759 0 + TG TG CC/TG genomic mnp by-cluster 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19718044 19718045 rs7281997 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.103438 0.202533 intron exact 1 10 1000GENOMES,BCM_SSAHASNP,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,SSAHASNP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4734.000000,274.000000, 0.945288,0.054713, maf-5-some-pop 735 chr21 19718055 19718056 rs867360570 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19718056 19718057 rs867668509 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19718058 19718058 rs71189597 0 + - - -/AAAAAAAAAAAAA genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 AAAAAAAAAAAAA, 2.000000, 1.000000, 735 chr21 19718080 19718081 rs189735216 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19718082 19718083 rs7283650 0 + A A A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 BCM_SSAHASNP, 1 A, 408.000000, 1.000000, 735 chr21 19718133 19718134 rs552375388 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 735 chr21 19718196 19718197 rs770383302 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19718220 19718221 rs532589343 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19718262 19718263 rs113426309 0 + G G A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 735 chr21 19718284 19718285 rs372833169 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19718291 19718292 rs62214963 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 735 chr21 19718297 19718298 rs7282391 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.094856 0.196037 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4758.000000,250.000000, 0.950080,0.049920, maf-5-some-pop 735 chr21 19718327 19718328 rs145479717 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 735 chr21 19718355 19718356 rs116732477 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,T, 4983.000000,25.000000, 0.995008,0.004992, 735 chr21 19718414 19718415 rs182627543 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19718524 19718525 rs17002585 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 3 1000GENOMES,PERLEGEN,WEILL_CORNELL_DGM, 2 G,T, 4951.000000,57.000000, 0.988618,0.011382, 735 chr21 19718528 19718529 rs765663459 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19718531 19718532 rs7279017 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.090531 0.192535 intron exact 1 8 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4770.000000,238.000000, 0.952476,0.047524, maf-5-some-pop 735 chr21 19718533 19718534 rs145373404 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 735 chr21 19718564 19718565 rs558339019 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19718569 19718570 rs375183062 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19718620 19718621 rs528723402 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19718643 19718644 rs576876682 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19718647 19718648 rs2824754 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.478603 0.101197 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1986.000000,3022.000000, 0.396565,0.603435, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19718658 19718659 rs568091895 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19718667 19718668 rs371314045 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19718669 19718670 rs530979714 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19718702 19718703 rs555733825 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19718703 19718704 rs116051361 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4985.000000,23.000000, 0.995407,0.004593, 735 chr21 19718720 19718721 rs187216897 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19718721 19718722 rs560430720 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19718724 19718725 rs137919931 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19718750 19718751 rs775835864 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19718785 19718786 rs546001891 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19718817 19718818 rs2824755 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.477684 0.103247 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3033.000000,1975.000000, 0.605631,0.394369, maf-5-some-pop,maf-5-all-pops 735 chr21 19718891 19718892 rs765014308 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19718903 19718904 rs2824756 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.478685 0.10101 intron exact 1 29 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1987.000000,3021.000000, 0.396765,0.603235, maf-5-some-pop,maf-5-all-pops 735 chr21 19718908 19718909 rs371893896 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19718929 19718930 rs550344403 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19718932 19718933 rs562037786 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19718966 19718967 rs80186026 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4907.000000,101.000000, 0.979832,0.020168, 735 chr21 19718970 19718971 rs116031866 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19718976 19718977 rs17002589 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.057359 0.15934 intron exact 1 10 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4860.000000,148.000000, 0.970447,0.029553, maf-5-some-pop 735 chr21 19718977 19718978 rs566688822 0 + G G A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19718999 19719000 rs145125174 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719013 19719014 rs191967173 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19719045 19719046 rs555730334 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19719061 19719062 rs183651048 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19719074 19719075 rs570197756 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719078 19719079 rs187496081 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719087 19719088 rs113956523 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19719107 19719108 rs537548233 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719119 19719120 rs778877162 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19719153 19719154 rs148350382 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19719157 19719158 rs574079742 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19719192 19719193 rs552535102 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19719256 19719257 rs778144642 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719257 19719258 rs750064230 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19719263 19719264 rs568751167 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 735 chr21 19719264 19719265 rs535098605 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719276 19719277 rs141598438 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19719278 19719279 rs572314168 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719337 19719338 rs150893972 0 + A A A/C genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 1 1000GENOMES, 2 A,C, 4983.000000,25.000000, 0.995008,0.004992, 735 chr21 19719340 19719341 rs191606558 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719348 19719348 rs575311234 0 + - - -/AA genomic insertion by-cluster 0 0 intron between 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719404 19719405 rs771393739 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719420 19719421 rs73194667 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.09701 0.197722 intron exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 256.000000,4752.000000, 0.051118,0.948882, maf-5-some-pop 735 chr21 19719425 19719426 rs2406176 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.371582 0.218444 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3773.000000,1235.000000, 0.753395,0.246605, maf-5-some-pop,genotype-conflict 735 chr21 19719449 19719450 rs562175327 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719480 19719481 rs529275297 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19719487 19719488 rs772261324 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719506 19719507 rs547770904 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19719543 19719544 rs559757507 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19719549 19719550 rs115555652 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 35.000000,4973.000000, 0.006989,0.993011, 735 chr21 19719561 19719562 rs370310481 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 735 chr21 19719574 19719575 rs768780321 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719588 19719591 rs576606510 0 + CAT CAT -/CAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron range 1 2 1000GENOMES,HAMMER_LAB, 2 -,CAT, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19719608 19719609 rs138149767 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719612 19719613 rs114412023 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19719620 19719621 rs537282264 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719644 19719645 rs369728988 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19719651 19719652 rs868773191 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19719714 19719715 rs567838082 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19719744 19719745 rs865832522 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19719749 19719750 rs773103284 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719795 19719796 rs182640313 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719796 19719797 rs535061082 0 + G G A/G genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 735 chr21 19719798 19719799 rs113043082 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 A, 1.000000, 1.000000, 735 chr21 19719821 19719822 rs374714560 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19719825 19719826 rs553718942 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19719841 19719842 rs8130619 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.37955 0.213815 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3733.000000,1275.000000, 0.745407,0.254593, maf-5-some-pop,maf-5-all-pops 735 chr21 19719842 19719843 rs539697987 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19719844 19719845 rs375530166 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19719848 19719849 rs758968551 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719851 19719852 rs557799364 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19719877 19719878 rs766990370 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19719894 19719895 rs747227945 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19720031 19720032 rs8126674 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.093057 0.194599 intron exact 1 MixedObserved 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 245.000000,4763.000000, 0.048922,0.951078, maf-5-some-pop 735 chr21 19720031 19720036 rs386816760 0 + CTGAA CTGAA CTGAA/TT genomic in-del unknown 0 0 intron rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 TISHKOFF, 0 735 chr21 19720046 19720046 rs375461248 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 TISHKOFF, 0 735 chr21 19720055 19720056 rs543662047 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19720068 19720069 rs555848819 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19720082 19720083 rs574193226 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19720153 19720154 rs28368710 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.38286 0.211774 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3716.000000,1292.000000, 0.742013,0.257987, maf-5-some-pop,maf-5-all-pops 735 chr21 19720177 19720178 rs13047058 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.157972 0.232445 intron exact 1 16 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 433.000000,4575.000000, 0.086462,0.913538, maf-5-some-pop 735 chr21 19720183 19720184 rs8130254 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.478104 0.102316 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 1980.000000,3028.000000, 0.395367,0.604633, maf-5-some-pop,maf-5-all-pops 735 chr21 19720227 19720228 rs8134400 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.102726 0.202016 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 4736.000000,272.000000, 0.945687,0.054313, maf-5-some-pop 735 chr21 19720236 19720237 rs187099361 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19720253 19720254 rs74951730 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 88.000000,4920.000000, 0.017572,0.982428, maf-5-some-pop 735 chr21 19720260 19720261 rs549169263 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19720323 19720324 rs567559933 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19720339 19720340 rs4380333 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.184203 0.241186 intron exact 1 14 1000GENOMES,ABI,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4494.000000,514.000000, 0.897364,0.102636, maf-5-some-pop 735 chr21 19720346 19720347 rs78131761 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.16911 0.236552 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4541.000000,467.000000, 0.906749,0.093251, maf-5-some-pop 735 chr21 19720353 19720354 rs8134661 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.315273 0.241329 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 982.000000,4026.000000, 0.196086,0.803914, maf-5-some-pop,maf-5-all-pops 735 chr21 19720365 19720366 rs747087843 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19720372 19720373 rs539075756 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19720410 19720411 rs143806183 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19720414 19720415 rs540759145 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19720442 19720443 rs113336900 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.110167 0.207236 intron exact 1 13 1000GENOMES,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4715.000000,293.000000, 0.941494,0.058506, maf-5-some-pop 735 chr21 19720450 19720451 rs370196357 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19720460 19720461 rs112154409 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19720479 19720480 rs34000631 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.282369 0.247896 intron exact 1 13 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4156.000000,852.000000, 0.829872,0.170128, maf-5-some-pop 735 chr21 19720485 19720486 rs555593979 0 + A A A/C genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19720503 19720504 rs573803194 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19720537 19720538 rs36008274 0 + T T AA/TT genomic mnp unknown 0 0 intron rangeInsertion 1 FlankMismatchGenomeLonger,ObservedMismatch 1 ABI, 0 735 chr21 19720595 19720596 rs541496759 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19720600 19720601 rs2824757 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.185155 0.241444 intron exact 1 18 1000GENOMES,ABI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4491.000000,517.000000, 0.896765,0.103235, maf-5-some-pop 735 chr21 19720618 19720619 rs4322926 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.214843 0.247516 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 613.000000,4395.000000, 0.122404,0.877596, maf-5-some-pop 735 chr21 19720637 19720638 rs545094968 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19720638 19720639 rs192597404 0 + T T A/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19720641 19720642 rs4507184 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.221141 0.248329 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4374.000000,634.000000, 0.873403,0.126597, maf-5-some-pop 735 chr21 19720646 19720647 rs56275251 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 4 1000GENOMES,HAMMER_LAB,HGSV,ILLUMINA-UK, 2 C,G, 4988.000000,20.000000, 0.996006,0.003994, maf-5-some-pop 735 chr21 19720666 19720666 rs755066802 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19720705 19720706 rs561122993 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19720707 19720709 rs761877341 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19720708 19720709 rs79553543 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, maf-5-some-pop 735 chr21 19720768 19720769 rs547432668 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19720791 19720792 rs565656238 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19720792 19720793 rs62214964 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.42263 0.180829 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3489.000000,1519.000000, 0.696685,0.303315, maf-5-some-pop,maf-5-all-pops 735 chr21 19720810 19720811 rs551404030 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19720839 19720840 rs767379653 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19720857 19720858 rs569133596 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19720861 19720862 rs775032042 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19720868 19720869 rs569710774 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19720898 19720899 rs184394253 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19720921 19720922 rs2824758 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.328383 0.237395 intron exact 1 18 1000GENOMES,AFFY,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1037.000000,3971.000000, 0.207069,0.792931, maf-5-some-pop 735 chr21 19720942 19720943 rs2824759 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.452965 0.145963 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1736.000000,3272.000000, 0.346645,0.653355, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19720960 19720961 rs748200044 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19720970 19720971 rs753551743 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19720979 19720980 rs534533680 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19720989 19720990 rs553404584 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721026 19721027 rs2150384 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.326976 0.237854 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3977.000000,1031.000000, 0.794129,0.205871, maf-5-some-pop 735 chr21 19721081 19721082 rs538607927 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721083 19721084 rs79284574 0 + A A A/C/G genomic single by-cluster 0.5 0 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 ENSEMBL,EVA-GONL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19721097 19721098 rs538890004 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19721109 19721110 rs553497414 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19721193 19721194 rs13047640 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.16846 0.236329 intron exact 1 21 1000GENOMES,ABI,AFFY,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 465.000000,4543.000000, 0.092851,0.907149, maf-5-some-pop 735 chr21 19721222 19721223 rs758895573 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19721287 19721293 rs770998811 0 + AGATAA AGATAA -/AGATAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19721316 19721317 rs74425131 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19721318 19721319 rs573354872 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19721330 19721331 rs7279876 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.396182 0.202807 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1363.000000,3645.000000, 0.272165,0.727835, maf-5-some-pop 735 chr21 19721352 19721353 rs79141644 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.16846 0.236329 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4543.000000,465.000000, 0.907149,0.092851, maf-5-some-pop 735 chr21 19721408 19721409 rs77817388 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19721456 19721457 rs190450415 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721457 19721458 rs563254635 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19721473 19721474 rs530558391 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19721493 19721494 rs549266903 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19721501 19721502 rs567471099 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721546 19721547 rs144698038 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721550 19721551 rs80191718 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 735 chr21 19721558 19721559 rs571461855 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721582 19721583 rs193150852 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19721599 19721600 rs13048566 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.282632 0.247861 intron exact 1 20 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4155.000000,853.000000, 0.829673,0.170327, maf-5-some-pop 735 chr21 19721635 19721636 rs770156965 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19721670 19721671 rs778723305 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19721713 19721714 rs147204364 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19721718 19721719 rs116370086 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 735 chr21 19721746 19721747 rs555195333 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19721774 19721775 rs148661517 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721778 19721779 rs9305863 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.061482 0.164198 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_SNP,TISHKOFF,WUGSC_SSAHASNP, 2 C,T, 159.000000,4849.000000, 0.031749,0.968251, maf-5-some-pop 735 chr21 19721785 19721786 rs540720473 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 735 chr21 19721865 19721866 rs553440451 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19721866 19721867 rs8127494 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.485187 0.084778 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2073.000000,2935.000000, 0.413938,0.586062, maf-5-some-pop,maf-5-all-pops 735 chr21 19721881 19721882 rs564490135 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19721911 19721912 rs73893072 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19721917 19721918 rs184499086 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19721939 19721940 rs142223807 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19721998 19721999 rs867105353 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19722011 19722012 rs549003145 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19722035 19722036 rs561197058 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19722041 19722042 rs533200668 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19722066 19722067 rs151209032 0 + C C C/T genomic single by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 735 chr21 19722096 19722097 rs763277246 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722113 19722114 rs571338176 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19722124 19722125 rs752072615 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722127 19722128 rs2824760 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499968 0.003993 intron exact 1 27 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2524.000000,2484.000000, 0.503994,0.496006, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19722129 19722130 rs768744968 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19722190 19722191 rs1475893 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.377582 0.214995 intron exact 1 34 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 1265.000000,3743.000000, 0.252596,0.747404, maf-5-some-pop,maf-5-all-pops 735 chr21 19722198 19722199 rs113424699 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19722203 19722203 rs35936554 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19722214 19722215 rs752848813 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722227 19722228 rs371522852 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19722244 19722245 rs536202076 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19722275 19722278 rs562629896 0 + ATG ATG -/ATG genomic deletion by-frequency,by-1000genomes 0.01388 0.082142 intron range 1 1 1000GENOMES, 2 -,ATG, 35.000000,4973.000000, 0.006989,0.993011, 735 chr21 19722276 19722277 rs373588100 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19722277 19722280 rs72184920 0 + GAT GAT -/GAT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 735 chr21 19722306 19722307 rs554655119 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19722331 19722332 rs777902679 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722356 19722357 rs17781399 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.234982 0.249549 intron exact 1 16 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4327.000000,681.000000, 0.864018,0.135982, maf-5-some-pop 735 chr21 19722368 19722369 rs534206089 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19722373 19722374 rs370259299 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 7 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 735 chr21 19722390 19722391 rs112412642 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 A, 1.000000, 1.000000, 735 chr21 19722390 19722391 rs561689165 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19722417 19722418 rs577481188 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19722443 19722444 rs765327103 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19722461 19722462 rs779900797 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722474 19722475 rs140111245 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19722480 19722481 rs573267053 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19722487 19722488 rs373992512 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19722498 19722499 rs189209498 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19722521 19722522 rs181668269 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19722525 19722526 rs560719808 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19722545 19722546 rs13052606 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.175254 0.238565 intron exact 1 21 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4522.000000,486.000000, 0.902955,0.097045, maf-5-some-pop,microattr-tpa 735 chr21 19722574 19722575 rs118104633 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19722576 19722577 rs565206317 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19722591 19722592 rs371693220 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19722600 19722601 rs62214994 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.057734 0.159793 intron exact 1 12 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4859.000000,149.000000, 0.970248,0.029752, maf-5-some-pop 735 chr21 19722610 19722611 rs769416592 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722621 19722622 rs144009019 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19722622 19722623 rs563839754 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19722628 19722629 rs146416585 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19722672 19722673 rs763371787 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722713 19722714 rs766587343 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722734 19722735 rs532527271 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19722770 19722771 rs548692459 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19722820 19722821 rs751971208 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722829 19722830 rs2824761 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.265453 0.249522 intron exact 1 21 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4219.000000,789.000000, 0.842452,0.157548, maf-5-some-pop 735 chr21 19722833 19722834 rs184028879 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19722869 19722870 rs368557728 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19722878 19722879 rs534217005 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19722895 19722896 rs140955378 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19722909 19722910 rs768172091 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722910 19722911 rs115809112 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4956.000000,52.000000, 0.989617,0.010383, maf-5-some-pop 735 chr21 19722977 19723000 rs745723589 0 + TCTTAGCCCCACCCTCCCCATCC TCTTAGCCCCACCCTCCCCATCC -/TCTTAGCCCCACCCTCCCCATCC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19722986 19722987 rs538401774 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19723007 19723008 rs9305864 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.354881 0.226936 intron exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3853.000000,1155.000000, 0.769369,0.230631, maf-5-some-pop,maf-5-all-pops 735 chr21 19723039 19723040 rs144665900 0 + A A A/C genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,GMI, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19723054 19723055 rs9978650 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493477 0.056735 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2218.000000,2790.000000, 0.442891,0.557109, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19723072 19723073 rs554664731 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19723076 19723076 rs563248607 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 2 EVA_DECODE,SSIP, 0 735 chr21 19723077 19723078 rs138897622 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19723097 19723098 rs540226566 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19723106 19723107 rs117885532 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19723156 19723157 rs371804348 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19723198 19723199 rs547502378 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,C, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19723199 19723200 rs757511416 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723224 19723225 rs573352414 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19723259 19723261 rs769388245 0 + CT CT -/CT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723328 19723329 rs17771702 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.023675 0.106192 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN, 2 A,T, 4948.000000,60.000000, 0.988019,0.011981, maf-5-some-pop 735 chr21 19723354 19723355 rs544145771 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19723383 19723384 rs562319994 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19723398 19723398 rs774610233 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 735 chr21 19723416 19723417 rs376830326 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19723432 19723433 rs548361234 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19723446 19723447 rs148969062 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19723449 19723450 rs76210054 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19723500 19723501 rs2824762 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.488726 0.074229 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2880.000000,2128.000000, 0.575080,0.424920, maf-5-some-pop,maf-5-all-pops 735 chr21 19723510 19723511 rs780521672 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19723515 19723516 rs570899867 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19723516 19723517 rs781155494 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723532 19723533 rs554269132 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19723552 19723553 rs188708847 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19723653 19723654 rs780318268 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19723664 19723665 rs538537208 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19723664 19723665 rs747228069 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723668 19723669 rs111897942 0 + C C A/C genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19723670 19723671 rs148157682 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19723706 19723706 rs771485096 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723724 19723725 rs747645138 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723737 19723738 rs180678874 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19723741 19723742 rs78407761 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.143622 0.226238 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4618.000000,390.000000, 0.922125,0.077875, maf-5-some-pop 735 chr21 19723750 19723751 rs9982295 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.03722 0.131242 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 95.000000,4913.000000, 0.018970,0.981030, maf-5-some-pop 735 chr21 19723752 19723753 rs577963655 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19723754 19723755 rs748835256 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723784 19723785 rs865963695 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19723785 19723786 rs186131573 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 735 chr21 19723804 19723805 rs776762374 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19723806 19723807 rs770642730 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723819 19723820 rs540594381 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19723864 19723865 rs748306436 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19723886 19723887 rs192244597 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,G, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19723897 19723898 rs558124096 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19723899 19723906 rs774709889 0 + ACGTAAG ACGTAAG -/ACGTAAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723901 19723902 rs576457378 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19723908 19723909 rs544088086 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19723911 19723912 rs760021255 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19723918 19723919 rs115057830 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19723923 19723924 rs574520922 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19723958 19723959 rs542013238 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19723976 19723977 rs182244005 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724013 19724014 rs527777427 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724014 19724015 rs8129347 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 109.000000,4899.000000, 0.021765,0.978235, maf-5-some-pop 735 chr21 19724026 19724027 rs564453108 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724032 19724033 rs560491610 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19724049 19724050 rs185771518 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19724085 19724086 rs550466154 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724120 19724121 rs542006000 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724151 19724152 rs78377147 0 + T T A/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,GMI, 2 A,T, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19724174 19724175 rs190397271 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19724178 19724179 rs761264342 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724201 19724202 rs566188502 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724208 19724209 rs533862259 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724212 19724213 rs558263107 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724240 19724241 rs373871683 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19724243 19724244 rs764019484 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724261 19724262 rs770000485 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19724290 19724291 rs576396438 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724297 19724298 rs377061303 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19724298 19724299 rs537470844 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724314 19724315 rs753973324 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724340 19724341 rs73893075 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19724345 19724346 rs529370840 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19724368 19724369 rs542094908 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19724370 19724371 rs574686226 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19724391 19724391 rs147684081 0 + - - -/T/TT/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.453943 0.188812 intron between 1 InconsistentAlleles 11 1000GENOMES,BILGI_BIOE,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 3 -,T,TT, 1511.000000,121.000000,3376.000000, 0.301717,0.024161,0.674121, rs-cluster-nonoverlapping-alleles 735 chr21 19724392 19724392 rs386394361 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 735 chr21 19724397 19724397 rs386394362 0 + - - -/TT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 735 chr21 19724398 19724399 rs201786988 0 + G G G/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19724398 19724398 rs34505525 0 + - - -/TT genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 3 ABI,GMI,HUMANGENOME_JCVI, 1 TT, 2.000000, 1.000000, 735 chr21 19724411 19724412 rs17836432 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.126909 0.217598 intron exact 1 17 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 341.000000,4667.000000, 0.068091,0.931909, maf-5-some-pop 735 chr21 19724412 19724413 rs765533474 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724425 19724426 rs186869005 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724449 19724450 rs191207262 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724459 19724460 rs546305118 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724464 19724465 rs564590750 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724506 19724507 rs751332378 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724508 19724509 rs531688349 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724512 19724513 rs754826394 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724517 19724518 rs781104563 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724544 19724545 rs759211678 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19724572 19724573 rs182841900 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19724578 19724579 rs187741554 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19724605 19724606 rs529588437 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724607 19724608 rs375852476 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19724628 19724629 rs370495893 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19724636 19724637 rs547802970 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724641 19724642 rs147252646 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19724672 19724673 rs748012904 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724678 19724679 rs533365497 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724730 19724731 rs571659128 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19724744 19724745 rs7364087 0 + G G A/G genomic single by-cluster,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SC_SNP, 1 G, 416.000000, 1.000000, 735 chr21 19724751 19724752 rs139029457 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724753 19724754 rs193239183 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19724765 19724766 rs537408057 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19724767 19724768 rs540633036 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19724768 19724769 rs184793372 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724769 19724770 rs777101474 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724779 19724780 rs796099802 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 735 chr21 19724782 19724783 rs568012942 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19724848 19724849 rs770462122 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19724864 19724865 rs143150252 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19724918 19724919 rs553818075 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19724924 19724925 rs572176298 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19724937 19724938 rs374200903 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19725059 19725060 rs746227659 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19725069 19725070 rs563803075 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19725111 19725112 rs571411669 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 5 DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19725171 19725172 rs113603968 0 + G G A/C/G genomic single unknown 0.000017 0.00288 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 BUSHMAN,EVA_EXAC, 2 A,G, 1.000000,120589.000000, 0.000008,0.999992, 735 chr21 19725175 19725176 rs777174369 0 + T T G/T genomic single unknown 0.000017 0.002879 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,120617.000000, 0.000008,0.999992, 735 chr21 19725178 19725179 rs761851718 0 + G G A/G genomic single by-frequency 0.00005 0.004987 intron exact 1 1 EVA_EXAC, 2 A,G, 3.000000,120613.000000, 0.000025,0.999975, 735 chr21 19725180 19725181 rs374846287 0 + A A A/G genomic single by-cluster,by-frequency 0.00005 0.004986 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 120635.000000,3.000000, 0.999975,0.000025, 735 chr21 19725183 19725184 rs773260412 0 + A A A/T genomic single unknown 0.000017 0.002879 intron exact 1 1 EVA_EXAC, 2 A,T, 120643.000000,1.000000, 0.999992,0.000008, 735 chr21 19725188 19725189 rs763250257 0 + C C A/C genomic single by-frequency 0.00005 0.004986 intron exact 1 1 EVA_EXAC, 2 A,C, 3.000000,120661.000000, 0.000025,0.999975, 735 chr21 19725189 19725190 rs368171852 0 + C C A/C genomic single by-cluster,by-frequency 0.000133 0.008141 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 8.000000,120658.000000, 0.000066,0.999934, 735 chr21 19725196 19725197 rs370102624 0 + C C C/T genomic single by-cluster,by-frequency 0.000033 0.00407 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 120720.000000,2.000000, 0.999983,0.000017, 735 chr21 19725200 19725201 rs371766186 0 + T T C/T genomic single by-cluster 0.000017 0.002877 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,120771.000000, 0.000008,0.999992, 735 chr21 19725203 19725204 rs767529698 0 + A A A/T genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 A,T, 120845.000000,1.000000, 0.999992,0.000008, 735 chr21 19725211 19725212 rs375053347 0 + A A A/T genomic single by-cluster 0.000017 0.002875 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 120969.000000,1.000000, 0.999992,0.000008, 735 chr21 19725216 19725217 rs755527421 0 + T T C/T genomic single unknown 0.000017 0.002874 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121043.000000, 0.000008,0.999992, 735 chr21 19725229 19725230 rs777347554 0 + G G A/G genomic single unknown 0.000017 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121195.000000, 0.000008,0.999992, 735 chr21 19725232 19725233 rs753362127 0 + A A A/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 A,T, 121227.000000,1.000000, 0.999992,0.000008, 735 chr21 19725239 19725240 rs756926300 0 + T T C/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121245.000000, 0.000008,0.999992, 735 chr21 19725242 19725243 rs778491832 0 + T T C/T genomic single by-frequency 0.000082 0.006421 missense exact 1 1 EVA_EXAC, 2 C,T, 5.000000,121261.000000, 0.000041,0.999959, 735 chr21 19725243 19725244 rs150535752 0 + C C C/T genomic single by-cluster 0.000016 0.002872 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121267.000000,1.000000, 0.999992,0.000008, 735 chr21 19725248 19725249 rs199814645 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012145 0.076975 missense exact 1 11 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 794.000000,125492.000000, 0.006287,0.993713, maf-5-some-pop 735 chr21 19725249 19725250 rs781637249 0 + T T G/T genomic single by-frequency 0.000066 0.005742 missense exact 1 1 EVA_EXAC, 2 G,T, 4.000000,121278.000000, 0.000033,0.999967, 735 chr21 19725264 19725265 rs200225629 0 + G G C/G genomic single by-cluster 0.000082 0.006421 missense exact 1 6 CLINSEQ_SNP,EVA_DECODE,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,G, 5.000000,121253.000000, 0.000041,0.999959, 735 chr21 19725265 19725266 rs576598283 0 + A A A/T genomic single by-1000genomes 0.000033 0.004061 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 126267.000000,3.000000, 0.999976,0.000024, 735 chr21 19725271 19725272 rs773347807 0 + G G G/T genomic single unknown 0.000016 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 G,T, 121271.000000,1.000000, 0.999992,0.000008, 735 chr21 19725272 19725273 rs763010015 0 + G G G/T genomic single by-frequency 0.000049 0.004974 missense exact 1 1 EVA_EXAC, 2 G,T, 121257.000000,3.000000, 0.999975,0.000025, 735 chr21 19725281 19725281 rs35820113 0 + - - -/C genomic insertion unknown 0 0 frameshift between 1 1 ABI, 0 735 chr21 19725282 19725283 rs140443571 0 + G G G/T genomic single by-cluster 0.000016 0.002872 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 G,T, 121225.000000,1.000000, 0.999992,0.000008, 735 chr21 19725286 19725287 rs761034935 0 + C C A/C/T genomic single by-frequency 0.000033 0.004061 coding-synon,missense exact 1 SingleClassTriAllelic 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 3 A,C,T, 1.000000,121236.000000,1.000000, 0.000008,0.999983,0.000008, 735 chr21 19725297 19725298 rs767441640 0 + C C A/C/T genomic single by-frequency 0.00005 0.004975 nonsense,missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 2.000000,121199.000000,1.000000, 0.000017,0.999975,0.000008, 735 chr21 19725300 19725301 rs760662327 0 + T T C/T genomic single unknown 0.000017 0.002872 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121209.000000, 0.000008,0.999992, 735 chr21 19725301 19725302 rs764001308 0 + A A A/G genomic single unknown 0.000017 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121201.000000,1.000000, 0.999992,0.000008, 735 chr21 19725306 19725307 rs753379130 0 + C C C/T genomic single unknown 0.000017 0.002872 missense exact 1 1 EVA_EXAC, 2 C,T, 121193.000000,1.000000, 0.999992,0.000008, 735 chr21 19725307 19725308 rs546960004 0 + A A A/G genomic single unknown 0 0 coding-synon exact 1 1 EVA-GONL, 0 735 chr21 19725314 19725315 rs756770278 0 + T T C/T genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121173.000000, 0.000008,0.999992, 735 chr21 19725337 19725338 rs376753496 0 + A A A/T genomic single by-cluster 0.000017 0.002874 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 121021.000000,1.000000, 0.999992,0.000008, 735 chr21 19725340 19725341 rs372092689 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000314 0.012528 coding-synon exact 1 4 1000GENOMES,EVA_EXAC,JMKIDD_LAB,SSMP, 2 C,T, 125944.000000,22.000000, 0.999825,0.000175, 735 chr21 19725343 19725344 rs562090989 0 + A A A/G genomic single by-1000genomes 0.000017 0.002875 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 125954.000000,2.000000, 0.999984,0.000016, 735 chr21 19725346 19725347 rs781551698 0 + G G A/G genomic single unknown 0.000017 0.002876 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,120889.000000, 0.000008,0.999992, 735 chr21 19725350 19725351 rs748587664 0 + C C C/T genomic single unknown 0.000017 0.002877 missense exact 1 1 EVA_EXAC, 2 C,T, 120811.000000,1.000000, 0.999992,0.000008, 735 chr21 19725353 19725354 rs201542054 0 + T T C/T genomic single by-cluster,by-frequency 0.000083 0.006434 missense exact 1 4 EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,T, 5.000000,120763.000000, 0.000041,0.999959, 735 chr21 19725368 19725369 rs778191376 0 + T T A/T genomic single unknown 0.000017 0.002886 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120065.000000, 0.000008,0.999992, 735 chr21 19725376 19725377 rs749356922 0 + T T A/T genomic single unknown 0.000017 0.002893 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,119475.000000, 0.000008,0.999992, 735 chr21 19725378 19725379 rs747471398 0 + A A -/A genomic deletion by-frequency 0.000067 0.005799 intron exact 1 1 EVA_EXAC, 2 -,A, 4.000000,118920.000000, 0.000034,0.999966, 735 chr21 19725382 19725383 rs770944898 0 + A A A/G genomic single by-frequency 0.00005 0.005022 intron exact 1 1 EVA_EXAC, 2 A,G, 118931.000000,3.000000, 0.999975,0.000025, 735 chr21 19725389 19725390 rs375489018 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19725390 19725391 rs529304807 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00022 0.010483 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 15.000000,123225.000000, 0.000122,0.999878, 735 chr21 19725394 19725395 rs746098068 0 + A A A/T genomic single unknown 0.000017 0.002914 intron exact 1 MixedObserved 1 EVA_EXAC, 2 A,T, 117781.000000,1.000000, 0.999992,0.000008, 735 chr21 19725394 19725395 rs771025779 0 + A A -/A genomic deletion unknown 0.000068 0.005828 intron exact 1 MixedObserved 1 EVA_EXAC, 2 -,A, 4.000000,117761.000000, 0.000034,0.999966, 735 chr21 19725394 19725394 rs776553104 0 + - - -/A genomic insertion unknown 0.000068 0.005828 intron between 1 MixedObserved 1 EVA_EXAC, 2 -,A, 4.000000,117761.000000, 0.000034,0.999966, 735 chr21 19725398 19725399 rs771923017 0 + A A A/G genomic single unknown 0.000017 0.002914 intron exact 1 1 EVA_EXAC, 2 A,G, 117797.000000,1.000000, 0.999992,0.000008, 735 chr21 19725399 19725400 rs775416135 0 + A A A/T genomic single unknown 0.000017 0.002914 intron exact 1 1 EVA_EXAC, 2 A,T, 117743.000000,1.000000, 0.999992,0.000008, 735 chr21 19725402 19725403 rs760440844 0 + T T A/T genomic single unknown 0.000017 0.002919 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,117337.000000, 0.000009,0.999991, 735 chr21 19725409 19725410 rs541674770 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19725415 19725416 rs199959623 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19725418 19725419 rs17699052 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.074867 0.178405 intron exact 1 17 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 115879.000000,4609.000000, 0.961747,0.038253, maf-5-some-pop 735 chr21 19725431 19725432 rs112626659 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19725463 19725464 rs79627009 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19725490 19725491 rs368937407 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19725495 19725496 rs569956408 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19725510 19725510 rs763613261 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19725526 19725527 rs776542609 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19725530 19725531 rs572089865 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 -,A, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19725531 19725531 rs200836510 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 4976.000000,32.000000, 0.993610,0.006390, 735 chr21 19725558 19725559 rs73194692 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19725575 19725576 rs150839652 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19725583 19725583 rs35990835 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19725621 19725622 rs568033933 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19725629 19725630 rs535121832 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19725636 19725637 rs762000955 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19725639 19725640 rs765363065 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19725646 19725647 rs55744439 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4882.000000,126.000000, 0.974840,0.025160, maf-5-some-pop 735 chr21 19725648 19725649 rs565987930 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19725665 19725666 rs368833699 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19725672 19725673 rs557977808 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19725677 19725678 rs576332464 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 735 chr21 19725736 19725737 rs73323967 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 3 1000GENOMES,COMPLETE_GENOMICS,WEILL_CORNELL_DGM, 2 C,T, 48.000000,4960.000000, 0.009585,0.990415, 735 chr21 19725747 19725748 rs555529932 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19725779 19725780 rs780447935 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19725820 19725821 rs17002592 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 3 1000GENOMES,EVA_DECODE,PERLEGEN, 2 G,T, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19725832 19725833 rs548818172 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19725841 19725845 rs757269008 0 + TTAT TTAT -/TTAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19725891 19725892 rs112059645 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19725916 19725917 rs758626085 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19725980 19725981 rs569430938 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19725992 19725995 rs746144478 0 + ATT ATT -/ATT genomic deletion unknown 0.000019 0.003087 intron range 1 1 EVA_EXAC, 2 -,ATT, 1.000000,104955.000000, 0.000010,0.999990, 735 chr21 19725994 19725995 rs776477768 0 + T T C/T genomic single unknown 0.000019 0.003082 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,105293.000000, 0.000009,0.999991, 735 chr21 19725997 19725998 rs761349019 0 + A A A/G genomic single unknown 0.000019 0.003079 intron exact 1 1 EVA_EXAC, 2 A,G, 105489.000000,1.000000, 0.999991,0.000009, 735 chr21 19725998 19725999 rs764751975 0 + G G A/G genomic single unknown 0.000019 0.00308 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,105401.000000, 0.000009,0.999991, 735 chr21 19726001 19726002 rs750020488 0 + T T A/T genomic single unknown 0.000019 0.003071 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,106017.000000, 0.000009,0.999991, 735 chr21 19726002 19726003 rs573951594 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726008 19726009 rs758052366 0 + A A A/G genomic single unknown 0.000019 0.003056 intron exact 1 1 EVA_EXAC, 2 A,G, 107053.000000,1.000000, 0.999991,0.000009, 735 chr21 19726022 19726023 rs376425559 0 + A A A/G genomic single by-cluster,by-frequency 0.000071 0.005973 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 112110.000000,4.000000, 0.999964,0.000036, 735 chr21 19726024 19726025 rs191993967 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19726025 19726026 rs769905249 0 + T T -/T genomic deletion unknown 0.000018 0.002976 intron exact 1 1 EVA_EXAC, 2 -,T, 1.000000,112894.000000, 0.000009,0.999991, 735 chr21 19726028 19726029 rs756474282 0 + A A A/G genomic single unknown 0.000017 0.002956 intron exact 1 1 EVA_EXAC, 2 A,G, 114401.000000,1.000000, 0.999991,0.000009, 735 chr21 19726032 19726036 rs774262086 0 + TACT TACT -/TACT genomic deletion unknown 0.000017 0.002943 intron range 1 MixedObserved 1 EVA_EXAC, 2 -,TACT, 1.000000,115462.000000, 0.000009,0.999991, 735 chr21 19726032 19726033 rs778302255 0 + T T C/T genomic single unknown 0.000017 0.002939 intron exact 1 MixedObserved 1 EVA_EXAC, 2 C,T, 1.000000,115741.000000, 0.000009,0.999991, 735 chr21 19726041 19726042 rs749780442 0 + T T C/T genomic single unknown 0.000017 0.002906 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,118395.000000, 0.000008,0.999992, 735 chr21 19726046 19726047 rs757353134 0 + C C A/C genomic single unknown 0.000017 0.002897 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,119175.000000, 0.000008,0.999992, 735 chr21 19726052 19726053 rs779134734 0 + G G G/T genomic single unknown 0.000017 0.002891 missense exact 1 1 EVA_EXAC, 2 G,T, 119623.000000,1.000000, 0.999992,0.000008, 735 chr21 19726053 19726054 rs746007866 0 + C C A/C/T genomic single by-frequency 0.000033 0.004088 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,T, 1.000000,119686.000000,1.000000, 0.000008,0.999983,0.000008, 735 chr21 19726057 19726058 rs775906772 0 + T T G/T genomic single by-frequency 0.000033 0.004084 missense exact 1 1 EVA_EXAC, 2 G,T, 2.000000,119894.000000, 0.000017,0.999983, 735 chr21 19726058 19726059 rs746792337 0 + A A A/T genomic single unknown 0.000017 0.002887 missense exact 1 1 EVA_EXAC, 2 A,T, 119953.000000,1.000000, 0.999992,0.000008, 735 chr21 19726060 19726061 rs768369419 0 + A A A/T genomic single unknown 0.000017 0.002886 missense exact 1 1 EVA_EXAC, 2 A,T, 120035.000000,1.000000, 0.999992,0.000008, 735 chr21 19726062 19726063 rs559957109 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001315 0.025605 missense exact 1 3 1000GENOMES,EVA_EXAC,ILLUMINA, 2 A,G, 84.000000,125024.000000, 0.000671,0.999329, 735 chr21 19726067 19726068 rs761670799 0 + A A A/G genomic single unknown 0.000017 0.002884 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120231.000000,1.000000, 0.999992,0.000008, 735 chr21 19726075 19726076 rs764662592 0 + C C C/T genomic single unknown 0.000017 0.002882 missense exact 1 1 EVA_EXAC, 2 C,T, 120407.000000,1.000000, 0.999992,0.000008, 735 chr21 19726079 19726080 rs772705117 0 + A A A/G genomic single unknown 0.000017 0.002881 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120477.000000,1.000000, 0.999992,0.000008, 735 chr21 19726089 19726090 rs144186446 0 + T T G/T genomic single by-cluster 0.000017 0.002879 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 G,T, 1.000000,120607.000000, 0.000008,0.999992, 735 chr21 19726100 19726101 rs765984802 0 + A A A/G genomic single by-frequency 0.000116 0.007615 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120675.000000,7.000000, 0.999942,0.000058, 735 chr21 19726102 19726103 rs751202524 0 + C C C/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,T, 120695.000000,1.000000, 0.999992,0.000008, 735 chr21 19726103 19726104 rs761048882 0 + A A A/G genomic single unknown 0.000017 0.002878 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120691.000000,1.000000, 0.999992,0.000008, 735 chr21 19726110 19726111 rs577908127 0 + A A A/G genomic single by-1000genomes 0.000033 0.00407 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 125721.000000,3.000000, 0.999976,0.000024, 735 chr21 19726111 19726112 rs754301085 0 + T T C/T genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120731.000000, 0.000008,0.999992, 735 chr21 19726125 19726126 rs149710792 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00258 0.035826 missense exact 1 11 1000GENOMES,CLINSEQ_SNP,EVA-GONL,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,ILLUMINA,NHLBI-ESP,WEILL_CORNELL_DGM, 2 A,G, 162.000000,125606.000000, 0.001288,0.998712, 735 chr21 19726131 19726132 rs779617833 0 + T T C/T genomic single by-frequency 0.000033 0.004069 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,120762.000000, 0.000017,0.999983, 735 chr21 19726135 19726136 rs201854024 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000662 0.018185 missense exact 1 3 1000GENOMES,EVA_EXAC,ILLUMINA, 2 C,T, 42.000000,125720.000000, 0.000334,0.999666, 735 chr21 19726137 19726138 rs34162864 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024117 0.107131 missense exact 1 16 1000GENOMES,ABI,CLINSEQ_SNP,ENSEMBL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,HAMMER_LAB,ILLUMINA,NHLBI-ESP,WEILL_CORNELL_DGM, 2 A,G, 1501.000000,124251.000000, 0.011936,0.988064, 735 chr21 19726146 19726147 rs780288119 0 + C C A/C genomic single unknown 0.000017 0.002878 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,120701.000000, 0.000008,0.999992, 735 chr21 19726163 19726164 rs747220581 0 + A A A/C genomic single unknown 0.000017 0.002881 coding-synon exact 1 1 EVA_EXAC, 2 A,C, 120499.000000,1.000000, 0.999992,0.000008, 735 chr21 19726173 19726174 rs768444188 0 + A A A/G genomic single unknown 0.000017 0.002883 missense exact 1 1 EVA_EXAC, 2 A,G, 120311.000000,1.000000, 0.999992,0.000008, 735 chr21 19726178 19726179 rs780855909 0 + A A A/G genomic single unknown 0.000017 0.002884 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120187.000000,1.000000, 0.999992,0.000008, 735 chr21 19726179 19726180 rs549815861 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19726195 19726196 rs748005104 0 + A A A/G genomic single unknown 0.000017 0.002892 intron exact 1 1 EVA_EXAC, 2 A,G, 119555.000000,1.000000, 0.999992,0.000008, 735 chr21 19726202 19726203 rs769706176 0 + G G A/G genomic single unknown 0.000017 0.002896 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,119217.000000, 0.000008,0.999992, 735 chr21 19726209 19726210 rs777810601 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726214 19726215 rs561630675 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19726216 19726217 rs773184292 0 + T T C/T genomic single by-frequency 0.000186 0.009634 intron exact 1 1 EVA_EXAC, 2 C,T, 11.000000,118441.000000, 0.000093,0.999907, 735 chr21 19726219 19726220 rs762408214 0 + A A A/G genomic single unknown 0.000017 0.002909 intron exact 1 1 EVA_EXAC, 2 A,G, 118183.000000,1.000000, 0.999992,0.000008, 735 chr21 19726221 19726222 rs374232995 0 + C C C/T genomic single by-cluster 0.00031 0.012445 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 12920.000000,2.000000, 0.999845,0.000155, 735 chr21 19726223 19726223 rs761716121 0 + - - -/G genomic insertion by-frequency 0.000034 0.004119 intron between 1 1 EVA_EXAC, 2 -,G, 117892.000000,2.000000, 0.999983,0.000017, 735 chr21 19726243 19726244 rs528838370 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726252 19726253 rs558342304 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19726255 19726256 rs753268253 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726261 19726262 rs184544857 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19726271 19726272 rs565722636 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726290 19726291 rs539721921 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19726293 19726294 rs551733034 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726296 19726297 rs569831498 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19726329 19726330 rs536870938 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19726379 19726380 rs756855048 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726416 19726417 rs578238595 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19726464 19726465 rs2824763 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.188316 0.242271 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4481.000000,527.000000, 0.894768,0.105232, maf-5-some-pop 735 chr21 19726477 19726478 rs535160227 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19726487 19726488 rs73893076 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 735 chr21 19726505 19726506 rs771869671 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726513 19726514 rs577646954 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19726522 19726523 rs116512444 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19726535 19726536 rs554191069 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726596 19726597 rs189823722 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726627 19726628 rs747440676 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726628 19726629 rs575407087 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726629 19726630 rs542861117 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726641 19726642 rs561567995 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19726647 19726648 rs139440988 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19726690 19726691 rs769019356 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726711 19726715 rs376609783 0 + GTCT GTCT -/GTCT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 735 chr21 19726728 19726729 rs748396548 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19726832 19726833 rs769945434 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19726843 19726844 rs547495441 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19726846 19726847 rs181425859 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726858 19726859 rs532972529 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19726891 19726892 rs375678260 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 SSMP,TISHKOFF, 0 735 chr21 19726931 19726932 rs574109316 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726963 19726964 rs551672902 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 735 chr21 19726969 19726970 rs116064269 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19726996 19726997 rs543139078 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19726998 19726999 rs184399635 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727005 19727006 rs769799803 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727031 19727032 rs773293008 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727088 19727089 rs369066623 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19727109 19727110 rs116385741 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19727123 19727124 rs115628048 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19727127 19727128 rs763113270 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727166 19727167 rs189276082 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19727189 19727190 rs569826851 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19727202 19727203 rs144149114 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19727213 19727214 rs146436477 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19727268 19727269 rs372120257 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727290 19727291 rs140757778 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19727302 19727303 rs545638864 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 -,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19727303 19727304 rs143274663 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19727352 19727353 rs554841049 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727356 19727357 rs180932764 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19727368 19727369 rs759185179 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19727374 19727375 rs763927906 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727405 19727406 rs186129888 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19727428 19727429 rs151162296 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19727434 19727435 rs190936496 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19727447 19727448 rs532909863 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19727456 19727457 rs181381261 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19727470 19727471 rs771911859 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19727475 19727476 rs563315032 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727476 19727477 rs530712606 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19727479 19727480 rs778515154 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727504 19727505 rs186050901 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19727512 19727513 rs749980652 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727536 19727537 rs549288492 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19727544 19727545 rs140558712 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19727552 19727553 rs8130490 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.449853 0.150196 intron exact 1 24 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 1711.000000,3297.000000, 0.341653,0.658347, maf-5-some-pop,maf-5-all-pops 735 chr21 19727578 19727579 rs546662293 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19727580 19727581 rs747320927 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727607 19727608 rs571412590 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19727613 19727614 rs538786903 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19727617 19727618 rs114690595 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19727619 19727620 rs569259515 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727630 19727631 rs577260113 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19727632 19727633 rs547323849 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727643 19727644 rs536526188 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727686 19727687 rs2824764 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.444931 0.15653 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1673.000000,3335.000000, 0.334065,0.665935, maf-5-some-pop,maf-5-all-pops 735 chr21 19727702 19727703 rs191386391 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19727733 19727734 rs575306141 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19727777 19727778 rs748631731 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727778 19727779 rs183145732 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727835 19727836 rs770310338 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727878 19727879 rs2824765 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.444931 0.15653 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1673.000000,3335.000000, 0.334065,0.665935, maf-5-some-pop,maf-5-all-pops 735 chr21 19727889 19727890 rs577804483 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19727919 19727920 rs150464934 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19727927 19727928 rs763063595 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19727933 19727934 rs187783896 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19727989 19727990 rs78054620 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 735 chr21 19728000 19728001 rs542525689 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728025 19728026 rs760385647 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728042 19728043 rs561259870 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728089 19728090 rs9983373 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.031052 0.120672 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 735 chr21 19728090 19728091 rs546378054 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19728142 19728143 rs571153961 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19728168 19728169 rs776617175 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19728187 19728188 rs138259589 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19728208 19728209 rs114254768 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 735 chr21 19728247 19728248 rs569122232 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728264 19728265 rs142667470 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19728301 19728302 rs761799734 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728350 19728351 rs548551726 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19728365 19728366 rs567162035 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19728409 19728410 rs190641695 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19728430 19728431 rs559194223 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19728454 19728455 rs544006219 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 735 chr21 19728465 19728466 rs146900863 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728476 19728477 rs557037093 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728479 19728480 rs758040312 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728502 19728503 rs575105581 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19728504 19728505 rs538732720 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19728516 19728517 rs114784882 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 4 1000GENOMES,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19728543 19728544 rs755242512 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19728552 19728553 rs781707065 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19728555 19728556 rs115242901 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4965.000000,43.000000, 0.991414,0.008586, 735 chr21 19728556 19728557 rs752928448 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19728561 19728562 rs572795732 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19728581 19728582 rs765942557 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728593 19728594 rs113010558 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19728609 19728610 rs540162465 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19728616 19728617 rs751157420 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728631 19728632 rs564719430 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728636 19728637 rs182328551 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19728650 19728651 rs550632511 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728651 19728652 rs564010687 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19728677 19728678 rs563003254 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19728688 19728689 rs530001424 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19728702 19728703 rs548553248 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728703 19728704 rs748494040 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728721 19728722 rs558042752 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19728748 19728749 rs2824766 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.449599 0.150533 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3299.000000,1709.000000, 0.658746,0.341254, maf-5-some-pop,maf-5-all-pops 735 chr21 19728798 19728799 rs139041692 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19728801 19728802 rs142948614 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19728807 19728808 rs571026399 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728842 19728843 rs749360752 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728863 19728864 rs538465356 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19728901 19728902 rs771069021 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19728971 19728972 rs556736854 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19728974 19728975 rs187698799 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19728977 19728978 rs113845460 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 735 chr21 19729065 19729066 rs2824767 0 + A A A/C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.320575 0.239832 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 1004.000000,4004.000000, 0.200479,0.799521, maf-5-some-pop 735 chr21 19729098 19729099 rs745837778 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19729112 19729113 rs776452264 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729120 19729121 rs3787590 0 + T T C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.34303 0.232046 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 3907.000000,1101.000000, 0.780152,0.219848, maf-5-some-pop,maf-5-all-pops 735 chr21 19729141 19729142 rs115339816 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19729188 19729189 rs564857624 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19729193 19729194 rs576583499 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729194 19729195 rs544403552 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729214 19729215 rs773349129 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729221 19729222 rs762987149 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729260 19729261 rs562581697 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19729286 19729287 rs112111090 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19729317 19729318 rs143720423 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19729345 19729346 rs560486475 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19729406 19729407 rs527703008 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729417 19729418 rs552878895 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19729470 19729471 rs184487552 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729471 19729472 rs751053629 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729490 19729491 rs754621297 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729493 19729494 rs188501819 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729514 19729515 rs550343140 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 735 chr21 19729531 19729532 rs375586076 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19729555 19729556 rs200764860 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 2 1000GENOMES,LUNTER, 2 -,A, 40.000000,4968.000000, 0.007987,0.992013, 735 chr21 19729574 19729576 rs766404093 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729580 19729581 rs148123232 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729582 19729583 rs753040501 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729622 19729623 rs554379923 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729629 19729630 rs141882142 0 + A A A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 1 1000GENOMES, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 735 chr21 19729645 19729646 rs756531862 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729684 19729685 rs150784696 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19729717 19729718 rs202065348 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 1 1000GENOMES, 2 -,A, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19729757 19729758 rs754818084 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19729763 19729764 rs574071087 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19729768 19729769 rs576716037 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729805 19729806 rs563539082 0 + C C G/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 735 chr21 19729838 19729839 rs544225803 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19729845 19729846 rs556302692 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19729853 19729854 rs574582068 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19729871 19729871 rs200051263 0 + - - -/AG genomic insertion by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron between 1 1 1000GENOMES, 2 -,AG, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19729923 19729924 rs542275592 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19729952 19729953 rs560592544 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19730037 19730038 rs527640843 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19730038 19730039 rs370235154 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19730119 19730120 rs2824768 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.449853 0.150196 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1711.000000,3297.000000, 0.341653,0.658347, maf-5-some-pop,maf-5-all-pops 735 chr21 19730120 19730121 rs142673561 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19730146 19730147 rs779007526 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19730171 19730172 rs114904365 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4964.000000,44.000000, 0.991214,0.008786, 735 chr21 19730192 19730193 rs146016583 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 735 chr21 19730196 19730197 rs529484181 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19730197 19730198 rs547834695 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19730242 19730243 rs573679043 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19730270 19730271 rs192865975 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19730311 19730312 rs533680332 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19730326 19730327 rs558126060 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19730329 19730330 rs556523574 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19730334 19730335 rs570142563 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19730348 19730349 rs538128388 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19730377 19730378 rs772314668 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19730386 19730386 rs576429504 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19730417 19730418 rs139825352 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 735 chr21 19730419 19730420 rs775630236 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19730464 19730465 rs184628547 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19730484 19730485 rs867593463 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19730488 19730489 rs541665329 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19730537 19730538 rs2824769 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.182933 0.240836 intron exact 1 17 1000GENOMES,AFFY,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 510.000000,4498.000000, 0.101837,0.898163, maf-5-some-pop,genotype-conflict 735 chr21 19730556 19730557 rs572565732 0 + T T C/T genomic single by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 1 1000GENOMES, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19730557 19730558 rs546368460 0 + C C C/T genomic single by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 1 1000GENOMES, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 735 chr21 19730558 19730559 rs564455259 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19730561 19730562 rs531621650 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19730574 19730575 rs8126887 0 + G G C/G genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WI_SSAHASNP, 1 G, 420.000000, 1.000000, 735 chr21 19730681 19730682 rs760120719 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19730698 19730699 rs866625354 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19730714 19730715 rs149657353 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 735 chr21 19730748 19730749 rs868755970 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19730750 19730750 rs34089904 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19730756 19730757 rs145451706 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19730770 19730771 rs773154485 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19730782 19730783 rs529447094 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19730804 19730805 rs148436581 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 735 chr21 19730826 19730827 rs868807359 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19730843 19730843 rs527512850 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19730891 19730892 rs533071823 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19730898 19730899 rs7277098 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.450609 0.149185 intron exact 1 20 1000GENOMES,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3291.000000,1717.000000, 0.657149,0.342851, maf-5-some-pop,maf-5-all-pops 735 chr21 19730911 19730912 rs142561351 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 42.000000,4966.000000, 0.008387,0.991613, 735 chr21 19730939 19730940 rs570393499 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19730942 19730943 rs766259966 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19730983 19730984 rs537467081 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19730996 19730997 rs189916246 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731012 19731013 rs568275409 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19731016 19731017 rs374282679 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19731056 19731057 rs779078885 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19731060 19731061 rs151100069 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19731069 19731070 rs554009635 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731078 19731079 rs560890264 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19731102 19731103 rs112037263 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 735 chr21 19731115 19731118 rs201515770 0 + ACA ACA -/ACA genomic deletion by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron range 1 2 1000GENOMES,LUNTER, 2 -,ACA, 43.000000,4965.000000, 0.008586,0.991414, 735 chr21 19731145 19731146 rs759019663 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731150 19731151 rs539825566 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19731175 19731176 rs539903870 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731213 19731214 rs767188650 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731218 19731219 rs75554845 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4962.000000,46.000000, 0.990815,0.009185, 735 chr21 19731219 19731220 rs142493098 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 43.000000,4965.000000, 0.008586,0.991414, 735 chr21 19731244 19731245 rs543460437 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731253 19731254 rs146904822 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19731262 19731263 rs191129444 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731264 19731265 rs73893078 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,T, 4949.000000,59.000000, 0.988219,0.011781, 735 chr21 19731265 19731266 rs183638913 0 + T T A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19731266 19731267 rs773982315 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19731270 19731271 rs533365242 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731285 19731286 rs147948801 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 43.000000,4965.000000, 0.008586,0.991414, 735 chr21 19731314 19731315 rs73323978 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.039721 0.13629 intron exact 1 SingleClassTriAllelic 6 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,G, 58.000000,43.000000,4907.000000, 0.011582,0.008586,0.979832, maf-5-some-pop,maf-5-all-pops 735 chr21 19731316 19731317 rs549504143 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19731317 19731318 rs568096748 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19731336 19731337 rs141844816 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19731338 19731339 rs189321496 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731357 19731358 rs150410684 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 42.000000,4966.000000, 0.008387,0.991613, 735 chr21 19731364 19731365 rs138147195 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731390 19731391 rs558190055 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731402 19731403 rs149599905 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731403 19731404 rs17781453 0 + G G A/C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.333265 0.264416 intron exact 1 SingleClassTriAllelic 19 1000GENOMES,CHURCH_CG54K,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,G, 825.000000,182.000000,4001.000000, 0.164736,0.036342,0.798922, maf-5-some-pop,genotype-conflict 735 chr21 19731424 19731425 rs182011123 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 1 1000GENOMES, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19731461 19731462 rs757749198 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731462 19731463 rs541292932 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731470 19731471 rs143269017 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 735 chr21 19731473 19731474 rs577770297 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731490 19731490 rs35623451 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19731506 19731506 rs35459605 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19731511 19731512 rs779334443 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731533 19731534 rs186902939 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731534 19731535 rs118019419 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,TISHKOFF, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19731535 19731536 rs531307357 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19731598 19731599 rs371299901 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19731619 19731620 rs750501280 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731633 19731634 rs532077585 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19731652 19731653 rs190104627 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19731654 19731655 rs74488649 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.071153 0.174681 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4823.000000,185.000000, 0.963059,0.036941, maf-5-some-pop 735 chr21 19731661 19731662 rs73893080 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19731716 19731717 rs867505032 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19731736 19731737 rs138027959 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19731754 19731755 rs571865519 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19731770 19731771 rs747169926 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731792 19731793 rs533305473 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731808 19731809 rs551282134 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19731818 19731819 rs186185945 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19731820 19731821 rs73196410 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.262985 0.249663 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 780.000000,4228.000000, 0.155751,0.844249, maf-5-some-pop 735 chr21 19731821 19731822 rs73196413 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.26271 0.249677 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4229.000000,779.000000, 0.844449,0.155551, maf-5-some-pop 735 chr21 19731859 19731860 rs567293965 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19731868 19731870 rs77477929 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.264906 0.249555 intron range 1 DuplicateObserved 11 1000GENOMES,BILGI_BIOE,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AA, 787.000000,4221.000000, 0.157149,0.842851, maf-5-some-pop 735 chr21 19731868 19731868 rs761400318 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 735 chr21 19731879 19731880 rs534701273 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731893 19731894 rs369233284 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19731908 19731909 rs536972656 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19731917 19731918 rs749137362 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731939 19731940 rs770881653 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19731951 19731952 rs553211191 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19731986 19731987 rs577910104 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19732018 19732019 rs545343075 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19732025 19732026 rs556248220 0 + C C C/T genomic single by-cluster,by-frequency 0.000178 0.009445 intron exact 1 4 EVA-GONL,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 89636.000000,8.000000, 0.999911,0.000089, 735 chr21 19732029 19732030 rs759113667 0 + A A A/G genomic single unknown 0.000022 0.003314 intron exact 1 1 EVA_EXAC, 2 A,G, 91047.000000,1.000000, 0.999989,0.000011, 735 chr21 19732043 19732044 rs767264470 0 + A A A/G genomic single unknown 0.000022 0.003283 intron exact 1 1 EVA_EXAC, 2 A,G, 92773.000000,1.000000, 0.999989,0.000011, 735 chr21 19732057 19732058 rs754136142 0 + A A A/G genomic single unknown 0.00002 0.003168 intron exact 1 1 EVA_EXAC, 2 A,G, 99657.000000,1.000000, 0.999990,0.000010, 735 chr21 19732060 19732061 rs762313118 0 + T T C/T genomic single unknown 0.00002 0.003143 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,101245.000000, 0.000010,0.999990, 735 chr21 19732068 19732069 rs765811360 0 + C C C/G genomic single unknown 0.000019 0.003076 intron exact 1 1 EVA_EXAC, 2 C,G, 105687.000000,1.000000, 0.999991,0.000009, 735 chr21 19732090 19732091 rs751001671 0 + G G A/G genomic single unknown 0.000018 0.002989 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,111917.000000, 0.000009,0.999991, 735 chr21 19732091 19732092 rs368602174 0 + A A A/C genomic single by-cluster 0.000018 0.002987 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 112041.000000,1.000000, 0.999991,0.000009, 735 chr21 19732097 19732098 rs149843219 0 + C C C/T genomic single unknown 0.000156 0.00883 missense exact 1 1 NHLBI-ESP, 2 C,T, 12887.000000,1.000000, 0.999922,0.000078, 735 chr21 19732120 19732121 rs780014026 0 + T T G/T genomic single by-frequency 0.000035 0.004168 missense exact 1 1 EVA_EXAC, 2 G,T, 2.000000,115132.000000, 0.000017,0.999983, 735 chr21 19732126 19732127 rs751738422 0 + T T C/T genomic single by-frequency 0.000035 0.004161 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,115500.000000, 0.000017,0.999983, 735 chr21 19732128 19732129 rs755152765 0 + A A A/G genomic single by-frequency 0.000035 0.004159 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 115638.000000,2.000000, 0.999983,0.000017, 735 chr21 19732134 19732134 rs34824949 0 + - - -/G genomic insertion unknown 0 0 frameshift between 1 1 ABI, 0 735 chr21 19732135 19732136 rs781534787 0 + T T C/T genomic single unknown 0.000017 0.002936 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,116005.000000, 0.000009,0.999991, 735 chr21 19732138 19732139 rs370865239 0 + A A A/G genomic single unknown 0.000156 0.00883 missense exact 1 1 NHLBI-ESP, 2 A,G, 12851.000000,1.000000, 0.999922,0.000078, 735 chr21 19732142 19732142 rs767355919 0 + - - -/TTA genomic insertion by-frequency 0.000034 0.00415 cds-indel between 1 1 EVA_EXAC, 2 -,TTA, 116106.000000,2.000000, 0.999983,0.000017, 735 chr21 19732143 19732143 rs773303854 0 + - - -/CCACAT genomic insertion by-frequency 0.000034 0.00415 cds-indel between 1 1 EVA_EXAC, 2 -,CCACAT, 116096.000000,2.000000, 0.999983,0.000017, 735 chr21 19732145 19732146 rs747916640 0 + C C C/T genomic single by-frequency 0.000086 0.00656 missense exact 1 1 EVA_EXAC, 2 C,T, 116171.000000,5.000000, 0.999957,0.000043, 735 chr21 19732146 19732147 rs145871860 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000069 0.005868 coding-synon exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,G, 5.000000,121161.000000, 0.000041,0.999959, 735 chr21 19732150 19732151 rs374578220 0 + C C C/T genomic single by-cluster 0.000017 0.002934 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 116141.000000,1.000000, 0.999991,0.000009, 735 chr21 19732152 19732153 rs749234571 0 + C C C/G genomic single unknown 0.000017 0.002935 coding-synon exact 1 1 EVA_EXAC, 2 C,G, 116073.000000,1.000000, 0.999991,0.000009, 735 chr21 19732163 19732164 rs201269085 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000311 0.012469 missense exact 1 5 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,G, 120676.000000,22.000000, 0.999818,0.000182, 735 chr21 19732167 19732168 rs773725839 0 + T T A/T genomic single unknown 0.000017 0.002945 coding-synon exact 1 1 EVA_EXAC, 2 A,T, 1.000000,115303.000000, 0.000009,0.999991, 735 chr21 19732168 19732169 rs747858941 0 + C C C/T genomic single unknown 0 0 missense exact 1 1 EVA_DECODE, 0 735 chr21 19732172 19732173 rs121908060 0 - G G C/T genomic single unknown 0 0 nonsense exact 1 1 OMIM-CURATED-RECORDS, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 735 chr21 19732174 19732175 rs760665103 0 + T T -/T genomic deletion unknown 0.000017 0.002955 frameshift exact 1 1 EVA_EXAC, 2 -,T, 1.000000,114535.000000, 0.000009,0.999991, 735 chr21 19732179 19732180 rs528622467 0 + A A A/C genomic single by-cluster 0.000018 0.002975 coding-synon exact 1 2 EVA_EXAC,ILLUMINA, 2 A,C, 112979.000000,1.000000, 0.999991,0.000009, 735 chr21 19732191 19732192 rs771596993 0 + G G A/G genomic single unknown 0.000018 0.00302 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,109627.000000, 0.000009,0.999991, 735 chr21 19732201 19732202 rs80012949 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002192 0.03303 intron exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,G, 134.000000,112444.000000, 0.001190,0.998810, 735 chr21 19732204 19732205 rs762232991 0 + T T C/T genomic single by-frequency 0.000038 0.004337 intron exact 1 1 EVA_EXAC, 2 C,T, 2.000000,106332.000000, 0.000019,0.999981, 735 chr21 19732207 19732208 rs765723318 0 + C C C/T genomic single unknown 0.000019 0.003079 intron exact 1 1 EVA_EXAC, 2 C,T, 105463.000000,1.000000, 0.999991,0.000009, 735 chr21 19732210 19732211 rs561822342 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000038 0.004366 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 109924.000000,4.000000, 0.999964,0.000036, 735 chr21 19732220 19732221 rs763561477 0 + G G A/G genomic single unknown 0.00002 0.003142 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,101319.000000, 0.000010,0.999990, 735 chr21 19732226 19732227 rs766978300 0 + A A A/G genomic single unknown 0.00002 0.003188 intron exact 1 1 EVA_EXAC, 2 A,G, 98371.000000,1.000000, 0.999990,0.000010, 735 chr21 19732233 19732234 rs75692821 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 51.000000,4957.000000, 0.010184,0.989816, 735 chr21 19732256 19732257 rs771421004 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732303 19732304 rs541016487 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19732319 19732320 rs182284075 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19732320 19732321 rs772820884 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19732324 19732325 rs142531840 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,GMI,JMKIDD_LAB, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19732331 19732332 rs558673604 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19732332 19732333 rs371534030 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19732337 19732338 rs112954536 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 735 chr21 19732345 19732346 rs559919561 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 735 chr21 19732380 19732381 rs540789241 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19732388 19732388 rs768204492 0 + - - -/CTGTATCA genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19732404 19732405 rs560754515 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19732413 19732414 rs567433008 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19732423 19732424 rs868749814 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19732491 19732491 rs776080358 0 + - - -/GCA genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 735 chr21 19732508 19732508 rs776145542 0 + - - -/GT genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19732539 19732540 rs574618883 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732555 19732556 rs762140716 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732578 19732579 rs765766994 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732580 19732581 rs750828256 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732603 19732607 rs566078262 0 + TGAG TGAG -/TGAG genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 intron range 1 1 1000GENOMES, 2 -,TGAG, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19732604 19732605 rs761062150 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19732642 19732643 rs534832841 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19732647 19732648 rs185462692 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19732648 19732649 rs190957285 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19732662 19732663 rs572623360 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19732665 19732666 rs183498468 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19732706 19732707 rs115118612 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 735 chr21 19732710 19732711 rs60600268 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.499575 0.01457 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2431.000000,2577.000000, 0.485423,0.514577, maf-5-some-pop,maf-5-all-pops 735 chr21 19732712 19732713 rs755222611 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732741 19732742 rs563112975 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19732766 19732767 rs532177527 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732805 19732806 rs189134751 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19732810 19732811 rs749098906 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732821 19732822 rs770701498 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19732824 19732825 rs114618834 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024463 0.107923 intron exact 1 SingleClassTriAllelic 4 1000GENOMES,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 3 A,C,T, 60.000000,4946.000000,2.000000, 0.011981,0.987620,0.000399, 735 chr21 19732842 19732843 rs192839407 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19732850 19732851 rs183718072 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19732907 19732908 rs187805659 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19732920 19732921 rs577728338 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19732934 19732935 rs544946420 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19732940 19732941 rs563604124 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19732948 19732949 rs191876062 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19732980 19732981 rs549153644 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19733094 19733095 rs559448180 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19733097 19733098 rs71319688 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 9 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,WEILL_CORNELL_DGM, 2 A,T, 46.000000,4962.000000, 0.009185,0.990815, 735 chr21 19733170 19733171 rs547981711 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733182 19733183 rs774945978 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733186 19733187 rs528544877 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19733259 19733260 rs546725719 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19733260 19733261 rs760224440 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733289 19733290 rs768281890 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733310 19733311 rs2824770 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.469839 0.119042 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 C,T, 3119.000000,1889.000000, 0.622804,0.377196, maf-5-some-pop,maf-5-all-pops 735 chr21 19733335 19733336 rs139989145 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 25.000000,4983.000000, 0.004992,0.995008, 735 chr21 19733366 19733367 rs550949145 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19733385 19733386 rs536528176 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19733390 19733391 rs183593383 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19733423 19733424 rs141324781 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19733437 19733438 rs555177587 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19733467 19733468 rs3787592 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.441705 0.160466 intron exact 1 25 1000GENOMES,ABI,BCM_SSAHASNP,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP,YUSUKE, 2 A,T, 1649.000000,3359.000000, 0.329273,0.670727, maf-5-some-pop,maf-5-all-pops 735 chr21 19733518 19733519 rs773648366 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733592 19733593 rs150731004 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19733593 19733594 rs139026396 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19733604 19733605 rs763329288 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733606 19733607 rs767034833 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733625 19733626 rs3787593 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499587 0.014371 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 2432.000000,2576.000000, 0.485623,0.514377, maf-5-some-pop,maf-5-all-pops 735 chr21 19733651 19733652 rs544999615 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19733663 19733664 rs755167847 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733665 19733666 rs563178186 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19733692 19733693 rs575492752 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19733695 19733696 rs539064911 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733746 19733747 rs770056360 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 735 chr21 19733774 19733775 rs115913687 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19733785 19733786 rs188289197 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19733884 19733885 rs369761086 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19733928 19733929 rs558538435 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19733929 19733932 rs755772911 0 + AGA AGA -/AGA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19733961 19733962 rs528287845 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19733983 19733984 rs546639695 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19734040 19734041 rs9977711 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.070042 0.173537 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 182.000000,4826.000000, 0.036342,0.963658, maf-5-some-pop 735 chr21 19734052 19734053 rs17771793 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.028728 0.116357 intron exact 1 11 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 73.000000,4935.000000, 0.014577,0.985423, maf-5-some-pop 735 chr21 19734184 19734185 rs2824771 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.470424 0.117954 intron exact 1 27 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3113.000000,1895.000000, 0.621605,0.378395, maf-5-some-pop 735 chr21 19734185 19734186 rs745711125 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734194 19734195 rs781073033 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19734200 19734201 rs11357306 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.46845 0.121572 intron exact 1 MixedObserved 13 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,A, 3133.000000,1875.000000, 0.625599,0.374401, maf-5-some-pop,maf-5-all-pops 735 chr21 19734200 19734201 rs200661500 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 1 ILLUMINA, 0 735 chr21 19734209 19734210 rs200744313 0 + A A A/C genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19734209 19734210 rs796922920 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 HGSV, 0 735 chr21 19734210 19734211 rs201489550 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19734235 19734236 rs758305701 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734248 19734249 rs780020839 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734394 19734395 rs149906608 0 + A A A/T genomic single by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 1 1000GENOMES, 2 A,T, 4985.000000,23.000000, 0.995407,0.004593, 735 chr21 19734417 19734418 rs746516678 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734429 19734430 rs375529996 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19734431 19734432 rs147575568 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19734484 19734485 rs768087533 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734493 19734494 rs116055344 0 + T T C/T genomic single by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 1 1000GENOMES, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 735 chr21 19734510 19734511 rs368907639 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 735 chr21 19734555 19734556 rs776218168 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734570 19734571 rs113761367 0 + G G C/G genomic single by-cluster 0.5 0 intron exact 1 3 BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19734605 19734606 rs747706426 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734606 19734607 rs192413381 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19734609 19734610 rs553064830 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19734667 19734668 rs577659712 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19734683 19734684 rs538403513 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19734704 19734705 rs556897269 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19734709 19734710 rs140941307 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19734717 19734718 rs867077626 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19734718 19734719 rs372709982 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19734727 19734728 rs185448005 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19734734 19734735 rs769517624 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734735 19734736 rs190670928 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 735 chr21 19734806 19734807 rs773418963 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734830 19734831 rs572658640 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19734860 19734861 rs2824772 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.471578 0.115772 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 1907.000000,3101.000000, 0.380791,0.619209, maf-5-some-pop,maf-5-all-pops 735 chr21 19734866 19734867 rs181473877 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19734876 19734877 rs564978252 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19734949 19734950 rs766981874 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734960 19734961 rs557262158 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19734980 19734981 rs577070109 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19734982 19734983 rs760127548 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19734987 19734989 rs537573737 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TT, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19735023 19735024 rs79374529 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4953.000000,55.000000, 0.989018,0.010982, 735 chr21 19735082 19735083 rs8131365 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.052838 0.153711 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4872.000000,136.000000, 0.972843,0.027157, maf-5-some-pop 735 chr21 19735087 19735088 rs111941959 0 + G G G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 1.000000, 1.000000, 735 chr21 19735099 19735100 rs530061816 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19735100 19735101 rs559411834 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19735102 19735103 rs756255512 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19735305 19735306 rs528157493 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19735400 19735401 rs2824773 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499801 0.009982 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2454.000000,2554.000000, 0.490016,0.509984, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19735401 19735402 rs758254396 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19735460 19735461 rs2824774 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.469937 0.118861 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1890.000000,3118.000000, 0.377396,0.622604, maf-5-some-pop,maf-5-all-pops 735 chr21 19735497 19735498 rs552801521 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19735548 19735549 rs187158689 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 735 chr21 19735554 19735555 rs570986691 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19735565 19735566 rs538712741 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19735567 19735568 rs144786873 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,G, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19735575 19735576 rs188640175 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19735586 19735587 rs535851341 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19735687 19735688 rs554181966 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19735688 19735689 rs74790642 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19735692 19735693 rs181378771 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19735696 19735697 rs116084942 0 + A A A/G genomic single by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 1 1000GENOMES, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 735 chr21 19735697 19735698 rs754929623 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19735704 19735705 rs185216230 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19735755 19735756 rs761292727 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19735762 19735762 rs34859096 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19735860 19735861 rs576979581 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19735881 19735883 rs10531849 0 + AC AC -/CA genomic in-del unknown 0 0 intron range 1 MixedObserved,ObservedMismatch,InconsistentAlleles 12 1000GENOMES,BGI,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,AC, 3113.000000,1895.000000, 0.621605,0.378395, maf-5-some-pop,maf-5-all-pops 735 chr21 19735881 19735881 rs750158826 0 + - - -/AC genomic insertion unknown 0 0 intron between 1 MixedObserved 1 DDI, 0 735 chr21 19735882 19735884 rs75170382 0 + CA CA -/CA genomic deletion by-cluster 0.5 0 intron range 1 MixedObserved 3 BUSHMAN,GMI,TISHKOFF, 2 -,CA, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19735882 19735883 rs200091241 0 + C C C/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19735883 19735884 rs200870460 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19735901 19735905 rs777100170 0 + GAAA GAAA -/GAAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19735916 19735917 rs781599942 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19735918 19735919 rs544664598 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19735933 19735934 rs780527118 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19735945 19735946 rs562844883 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736008 19736009 rs570289412 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19736031 19736035 rs772663114 0 + TGTG TGTG -/TGTG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736033 19736035 rs761592416 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736035 19736036 rs769309572 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736038 19736039 rs189731373 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19736057 19736057 rs776002356 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736080 19736081 rs765565756 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19736098 19736099 rs532699741 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736140 19736141 rs573659047 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19736149 19736150 rs552128580 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736172 19736173 rs368316471 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19736175 19736176 rs774873556 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736216 19736217 rs377664325 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19736274 19736275 rs79874813 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.068931 0.172377 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4829.000000,179.000000, 0.964257,0.035743, maf-5-some-pop 735 chr21 19736279 19736280 rs2225404 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.471863 0.115225 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3098.000000,1910.000000, 0.618610,0.381390, maf-5-some-pop,maf-5-all-pops 735 chr21 19736287 19736288 rs376051910 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19736302 19736303 rs552631064 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736352 19736353 rs182902610 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19736359 19736360 rs760863581 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736379 19736380 rs187025582 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19736380 19736381 rs865829404 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19736400 19736401 rs192313465 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19736408 19736409 rs554688729 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19736410 19736411 rs183431055 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19736428 19736429 rs528544772 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19736429 19736430 rs368659098 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19736434 19736435 rs375854366 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19736444 19736445 rs535987160 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736455 19736456 rs370247585 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19736458 19736459 rs554120563 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736467 19736468 rs754022939 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736500 19736501 rs762035204 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736502 19736503 rs537206213 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19736552 19736553 rs556878068 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19736566 19736567 rs566163465 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736581 19736582 rs74581367 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 4 1000GENOMES,BGI,GMI,SSMP, 2 G,T, 4982.000000,26.000000, 0.994808,0.005192, 735 chr21 19736584 19736585 rs558599175 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736591 19736592 rs188829646 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736605 19736606 rs868614752 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19736633 19736634 rs58939811 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074843 0.178382 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 195.000000,4813.000000, 0.038938,0.961062, maf-5-some-pop 735 chr21 19736683 19736684 rs537654553 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736696 19736697 rs556364010 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19736710 19736711 rs2225405 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.479014 0.100263 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1991.000000,3017.000000, 0.397564,0.602436, maf-5-some-pop,maf-5-all-pops 735 chr21 19736711 19736712 rs542372550 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19736715 19736716 rs560486857 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19736754 19736755 rs572490198 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19736783 19736784 rs548843155 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19736805 19736806 rs752136004 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736818 19736819 rs62214995 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19736850 19736851 rs755718481 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736884 19736885 rs568939826 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19736891 19736892 rs777154625 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19736898 19736899 rs546428425 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19736908 19736909 rs371776534 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 735 chr21 19736913 19736914 rs564644376 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19736964 19736965 rs755864102 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19736981 19736982 rs531895925 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19737028 19737028 rs35986295 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19737059 19737060 rs115639136 0 + T T G/T genomic single by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 1 1000GENOMES, 2 G,T, 36.000000,4972.000000, 0.007188,0.992812, 735 chr21 19737088 19737089 rs552989167 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19737103 19737104 rs191620495 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19737126 19737127 rs149019622 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19737137 19737138 rs182633472 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19737145 19737146 rs187094864 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19737150 19737151 rs533565514 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19737211 19737212 rs531077146 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19737228 19737229 rs570640313 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19737269 19737270 rs550551540 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19737270 19737271 rs113371368 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4952.000000,56.000000, 0.988818,0.011182, 735 chr21 19737325 19737326 rs746278924 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737343 19737344 rs551214336 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19737360 19737361 rs772440619 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737369 19737370 rs749308875 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19737373 19737374 rs556080495 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19737373 19737373 rs753474529 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 SSMP, 0 735 chr21 19737397 19737398 rs112012496 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19737398 19737399 rs375014868 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19737404 19737405 rs776128286 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737413 19737414 rs374279651 0 + C C C/T genomic single by-cluster,by-frequency 0.000033 0.004071 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 120658.000000,2.000000, 0.999983,0.000017, 735 chr21 19737414 19737415 rs755135369 0 + G G A/G/T genomic single by-frequency 0.000099 0.007051 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 3.000000,120644.000000,3.000000, 0.000025,0.999950,0.000025, 735 chr21 19737415 19737416 rs752937933 0 + C C C/T genomic single unknown 0.000017 0.002878 intron exact 1 1 EVA_EXAC, 2 C,T, 120689.000000,1.000000, 0.999992,0.000008, 735 chr21 19737418 19737419 rs755844175 0 + T T C/T genomic single unknown 0.000017 0.002878 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120731.000000, 0.000008,0.999992, 735 chr21 19737426 19737427 rs777548021 0 + A A A/C genomic single by-frequency 0.00005 0.004982 intron exact 1 1 EVA_EXAC, 2 A,C, 120865.000000,3.000000, 0.999975,0.000025, 735 chr21 19737439 19737440 rs377544932 0 + A A A/G genomic single by-cluster,by-frequency 0.000628 0.017704 intron exact 1 4 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,NHLBI-ESP, 2 A,G, 121008.000000,38.000000, 0.999686,0.000314, 735 chr21 19737440 19737441 rs370774034 0 + T T C/T genomic single by-cluster 0.000017 0.002874 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121049.000000, 0.000008,0.999992, 735 chr21 19737447 19737448 rs778954131 0 + T T C/T genomic single unknown 0.000017 0.002873 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121105.000000, 0.000008,0.999992, 735 chr21 19737456 19737457 rs745336763 0 + C C C/G genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,G, 121161.000000,1.000000, 0.999992,0.000008, 735 chr21 19737457 19737458 rs771646497 0 + G G A/G genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121163.000000, 0.000008,0.999992, 735 chr21 19737461 19737462 rs775237545 0 + G G A/G genomic single unknown 0.000017 0.002873 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121183.000000, 0.000008,0.999992, 735 chr21 19737467 19737468 rs768722235 0 + C C C/G genomic single unknown 0 0 missense exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737479 19737480 rs148969435 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000247 0.011121 coding-synon,missense exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 3 A,G,T, 126199.000000,16.000000,1.000000, 0.999865,0.000127,0.000008, 735 chr21 19737488 19737489 rs773708711 0 + A A A/G genomic single unknown 0.000016 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121223.000000,1.000000, 0.999992,0.000008, 735 chr21 19737507 19737508 rs763433228 0 + G G A/G genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121235.000000, 0.000008,0.999992, 735 chr21 19737509 19737510 rs766775662 0 + A A A/G genomic single unknown 0.000016 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121233.000000,1.000000, 0.999992,0.000008, 735 chr21 19737517 19737518 rs774964633 0 + A A A/C genomic single by-frequency 0.000049 0.004974 missense exact 1 1 EVA_EXAC, 2 A,C, 121231.000000,3.000000, 0.999975,0.000025, 735 chr21 19737522 19737523 rs143785380 0 + C C C/G genomic single by-cluster 0.000066 0.005744 missense exact 1 4 EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,G, 121214.000000,4.000000, 0.999967,0.000033, 735 chr21 19737528 19737528 rs765953444 0 + - - -/GATCCA genomic insertion unknown 0.000016 0.002872 cds-indel between 1 1 EVA_EXAC, 2 -,GATCCA, 121219.000000,1.000000, 0.999992,0.000008, 735 chr21 19737536 19737537 rs373018815 0 + T T C/T genomic single by-cluster 0.000017 0.002872 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121193.000000, 0.000008,0.999992, 735 chr21 19737539 19737540 rs752850077 0 + C C C/G genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,G, 121177.000000,1.000000, 0.999992,0.000008, 735 chr21 19737541 19737542 rs756323568 0 + A A A/G genomic single unknown 0.000017 0.002873 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121167.000000,1.000000, 0.999992,0.000008, 735 chr21 19737542 19737543 rs138300762 0 + A A A/C genomic single by-cluster 0.000033 0.004063 missense exact 1 2 CLINSEQ_SNP,EVA_EXAC, 2 A,C, 121166.000000,2.000000, 0.999983,0.000017, 735 chr21 19737546 19737547 rs753603647 0 + C C C/G genomic single by-frequency 0.000066 0.005746 missense exact 1 1 EVA_EXAC, 2 C,G, 121146.000000,4.000000, 0.999967,0.000033, 735 chr21 19737551 19737552 rs757113081 0 + A A A/G genomic single unknown 0.000017 0.002873 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121105.000000,1.000000, 0.999992,0.000008, 735 chr21 19737554 19737555 rs376072076 0 + A A A/G genomic single by-cluster 0.000017 0.002874 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 121073.000000,1.000000, 0.999992,0.000008, 735 chr21 19737557 19737558 rs745843751 0 + A A A/T genomic single unknown 0.000017 0.002874 coding-synon exact 1 1 EVA_EXAC, 2 A,T, 121045.000000,1.000000, 0.999992,0.000008, 735 chr21 19737561 19737562 rs776647019 0 + G G C/G genomic single by-cluster,by-frequency 0.000099 0.007041 missense exact 1 2 EVA_EXAC,EVA_FINRISK, 2 C,G, 6.000000,120998.000000, 0.000050,0.999950, 735 chr21 19737563 19737564 rs779718807 0 + G G A/G genomic single by-frequency 0.00005 0.00498 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 3.000000,120947.000000, 0.000025,0.999975, 735 chr21 19737569 19737570 rs746587487 0 + A A A/G genomic single unknown 0.000017 0.002877 intron exact 1 1 EVA_EXAC, 2 A,G, 120835.000000,1.000000, 0.999992,0.000008, 735 chr21 19737573 19737574 rs554309535 0 + C C C/T genomic single by-1000genomes 0.000282 0.011863 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 125698.000000,18.000000, 0.999857,0.000143, 735 chr21 19737576 19737577 rs781041359 0 + T T C/T genomic single unknown 0.000017 0.00288 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120583.000000, 0.000008,0.999992, 735 chr21 19737595 19737596 rs572441900 0 + A A A/C genomic single by-1000genomes 0.000183 0.009568 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,C, 125106.000000,12.000000, 0.999904,0.000096, 735 chr21 19737601 19737602 rs370443832 0 + A A A/G genomic single by-cluster,by-frequency 0.000067 0.005774 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 119948.000000,4.000000, 0.999967,0.000033, 735 chr21 19737609 19737610 rs774660962 0 + A A A/G genomic single unknown 0.000017 0.002893 intron exact 1 1 EVA_EXAC, 2 A,G, 119435.000000,1.000000, 0.999992,0.000008, 735 chr21 19737612 19737613 rs760090300 0 + C C C/G genomic single unknown 0.000017 0.002899 intron exact 1 1 EVA_EXAC, 2 C,G, 118983.000000,1.000000, 0.999992,0.000008, 735 chr21 19737616 19737617 rs545890560 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000202 0.010048 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 15.000000,123799.000000, 0.000121,0.999879, 735 chr21 19737635 19737636 rs541943928 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19737649 19737650 rs564535850 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19737660 19737661 rs761293604 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19737665 19737666 rs73893081 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 111.000000,4897.000000, 0.022164,0.977835, maf-5-some-pop 735 chr21 19737687 19737688 rs776713693 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737785 19737789 rs201328617 0 + TCTT TCTT -/TCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron range 1 1 1000GENOMES, 2 -,TCTT, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19737789 19737793 rs564128358 0 + TCTC TCTC -/TCTC genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 intron range 1 1 1000GENOMES, 2 -,TCTC, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19737792 19737793 rs544138672 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19737793 19737794 rs143815372 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19737816 19737817 rs151039683 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19737819 19737820 rs191149046 0 + G G C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19737820 19737824 rs764432753 0 + CTTC CTTC -/CTTC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737834 19737838 rs199867610 0 + TCCC TCCC -/TCCC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737847 19737851 rs368193892 0 + CCCT CCCT -/CCCT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TISHKOFF, 0 735 chr21 19737847 19737855 rs377208434 0 + CCCTTCCT CCCTTCCT -/CCCTTCCT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 TISHKOFF, 0 735 chr21 19737848 19737852 rs201230491 0 + CCTT CCTT -/CCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron range 1 1 1000GENOMES, 2 -,CCTT, 40.000000,4968.000000, 0.007987,0.992013, 735 chr21 19737868 19737869 rs530531383 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19737869 19737871 rs796561745 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 735 chr21 19737879 19737881 rs765209976 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737880 19737881 rs140911054 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 735 chr21 19737891 19737891 rs10655380 0 + - - -/TC/TCTC genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 7 1000GENOMES,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 0 735 chr21 19737898 19737899 rs199912863 0 + T T C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19737898 19737898 rs36139589 0 + - - -/C/CTC/CTCT/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 4 ABI,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI, 1 CTCT, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 735 chr21 19737900 19737904 rs755590532 0 + TTCC TTCC -/TTCC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 735 chr21 19737901 19737904 rs779647167 0 + TCC TCC -/TCC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 735 chr21 19737919 19737920 rs8132178 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 SSAHASNP,WI_SSAHASNP, 0 735 chr21 19737923 19737924 rs8128003 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 SSAHASNP,WI_SSAHASNP, 0 735 chr21 19737931 19737933 rs199828397 0 + TC TC -/TC genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 735 chr21 19737934 19737935 rs527416615 0 + C C C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 735 chr21 19737935 19737935 rs10655381 0 + - - -/TCTT/TT genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737942 19737943 rs200839270 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 GMI,WEILL_CORNELL_DGM, 0 735 chr21 19737943 19737943 rs148782119 0 + - - -/TCTC genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 4 1000GENOMES,DDI,LUNTER,SSMP, 0 735 chr21 19737944 19737944 rs57900704 0 + - - -/CTCT genomic insertion unknown 0 0 intron between 1 1 GMI, 0 735 chr21 19737948 19737949 rs8132307 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 SSAHASNP,WEILL_CORNELL_DGM,WI_SSAHASNP, 0 735 chr21 19737948 19737948 rs397961885 0 + - - -/CTC/CTCC/CTCT genomic insertion by-cluster 0 0 intron between 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV, 0 rs-cluster-nonoverlapping-alleles 735 chr21 19737949 19737949 rs754739488 0 + - - -/TC genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 735 chr21 19737952 19737953 rs867460149 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19737954 19737955 rs8128121 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 SSAHASNP,WI_SSAHASNP, 0 735 chr21 19737958 19737959 rs866237068 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19737960 19737968 rs772720220 0 + TTCCTCCC TTCCTCCC -/TTCCTCCC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737962 19737964 rs530671919 0 + CC CC -/CC genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 735 chr21 19737965 19737966 rs13049006 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 HUMANGENOME_JCVI,SSAHASNP,WEILL_CORNELL_DGM, 1 T, 2.000000, 1.000000, 735 chr21 19737967 19737968 rs551864841 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19737968 19737968 rs754263280 0 + - - -/TTCCTCCC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19737969 19737970 rs563753696 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19737973 19737974 rs184482567 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 0 735 chr21 19737977 19737978 rs537738783 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19737986 19737986 rs71189598 0 + - - lengthTooLong genomic in-del unknown 0 0 intron between 1 ObservedTooLong,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT, 2.000000, 1.000000, 735 chr21 19738017 19738018 rs188761044 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 4 1000GENOMES,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 0 735 chr21 19738017 19738017 rs57962003 0 + - - -/TCCTTCCTTCCT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 735 chr21 19738038 19738039 rs202023535 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19738060 19738061 rs529487185 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.439224 0.163383 intron exact 1 DuplicateObserved 1 1000GENOMES, 2 -,T, 1631.000000,3377.000000, 0.325679,0.674321, maf-5-some-pop,maf-5-all-pops 735 chr21 19738060 19738060 rs778690781 0 + - - -/T genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 EVA_GENOME_DK, 0 735 chr21 19738077 19738077 rs36165986 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 ABI,GMI,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 735 chr21 19738089 19738090 rs565717388 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19738112 19738113 rs112785941 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 7 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 72.000000,4936.000000, 0.014377,0.985623, 735 chr21 19738131 19738132 rs548184330 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19738157 19738158 rs568212552 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19738158 19738159 rs372053889 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19738175 19738176 rs568492647 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19738195 19738196 rs116716310 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 39.000000,4969.000000, 0.007788,0.992212, maf-5-some-pop 735 chr21 19738243 19738244 rs865967848 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19738251 19738252 rs554271001 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19738257 19738258 rs140597397 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4950.000000,58.000000, 0.988419,0.011582, 735 chr21 19738263 19738264 rs537168364 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19738271 19738272 rs539972652 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19738282 19738283 rs776858158 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19738283 19738284 rs557860616 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19738294 19738295 rs576395578 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19738342 19738343 rs543712942 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19738355 19738356 rs77699745 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 8 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 4970.000000,38.000000, 0.992412,0.007588, maf-5-some-pop 735 chr21 19738372 19738373 rs375403943 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19738376 19738377 rs573862925 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19738414 19738415 rs541211722 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19738415 19738416 rs144805435 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19738431 19738432 rs770072052 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19738448 19738449 rs369586893 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19738484 19738485 rs570589989 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19738508 19738509 rs138666453 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19738521 19738522 rs193292929 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19738523 19738524 rs563885248 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19738538 19738539 rs531338685 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19738556 19738557 rs550069562 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19738572 19738573 rs751334435 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19738576 19738577 rs185097851 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19738586 19738587 rs568375764 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19738596 19738597 rs529235570 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19738623 19738624 rs13050461 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.336702 0.234484 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1073.000000,3935.000000, 0.214257,0.785743, maf-5-some-pop,maf-5-all-pops 735 chr21 19738644 19738645 rs767353017 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19738653 19738654 rs565909896 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19738661 19738662 rs752614862 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19738666 19738667 rs539510964 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19738684 19738685 rs756021941 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19738711 19738712 rs558237249 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19738732 19738733 rs566500328 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19738755 19738756 rs78798313 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 735 chr21 19738767 19738768 rs777292243 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19738805 19738806 rs73196427 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.090531 0.192535 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4770.000000,238.000000, 0.952476,0.047524, maf-5-some-pop 735 chr21 19738949 19738950 rs12627490 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.197703 0.244469 intron exact 1 16 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 557.000000,4451.000000, 0.111222,0.888778, maf-5-some-pop,maf-5-all-pops 735 chr21 19738955 19738956 rs573973578 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19739014 19739015 rs189168849 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19739070 19739071 rs553141540 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19739130 19739131 rs2824775 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.340559 0.233022 intron exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3918.000000,1090.000000, 0.782348,0.217652, maf-5-some-pop 735 chr21 19739137 19739138 rs545532767 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19739153 19739154 rs7283118 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.437401 0.165472 intron exact 1 16 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1618.000000,3390.000000, 0.323083,0.676917, maf-5-some-pop,maf-5-all-pops 735 chr21 19739189 19739190 rs531172984 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19739190 19739191 rs149334656 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19739191 19739192 rs181663343 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19739216 19739217 rs184017607 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19739260 19739261 rs547725682 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19739380 19739381 rs752587789 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19739444 19739445 rs188721268 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19739445 19739446 rs533176083 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19739480 19739481 rs180692172 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19739496 19739497 rs570120493 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19739504 19739505 rs755889175 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19739508 19739509 rs9983501 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.335559 0.234904 intron exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3940.000000,1068.000000, 0.786741,0.213259, maf-5-some-pop,maf-5-all-pops 735 chr21 19739540 19739541 rs796094031 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 735 chr21 19739566 19739567 rs563894147 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19739581 19739582 rs747499561 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19739593 19739594 rs377695249 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19739600 19739601 rs144578387 0 + G G A/G genomic single by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 735 chr21 19739603 19739604 rs567361884 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19739607 19739608 rs577054268 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19739618 19739619 rs534945204 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19739697 19739698 rs776660743 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19739698 19739699 rs186291715 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19739708 19739709 rs553631124 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19739741 19739742 rs191943809 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19739751 19739752 rs539234441 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19739753 19739754 rs76485843 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19739757 19739758 rs576063826 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19739793 19739794 rs2824776 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.337841 0.23406 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3930.000000,1078.000000, 0.784744,0.215256, maf-5-some-pop,maf-5-all-pops 735 chr21 19739805 19739806 rs115536107 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4950.000000,58.000000, 0.988419,0.011582, maf-5-some-pop 735 chr21 19739843 19739847 rs72434978 0 + TATA TATA -/TATA genomic deletion by-cluster,by-frequency,by-1000genomes 0.335559 0.234904 intron range 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,TATA, 1068.000000,3940.000000, 0.213259,0.786741, maf-5-some-pop,maf-5-all-pops 735 chr21 19739845 19739849 rs371377159 0 + TATA TATA -/TATA genomic deletion unknown 0 0 intron range 1 4 BCMHGSC_JDW,HUMANGENOME_JCVI,PJP,TISHKOFF, 0 735 chr21 19739887 19739888 rs773491553 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19739892 19739893 rs763079570 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19739893 19739894 rs573684766 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19739894 19739895 rs767401387 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19739906 19739907 rs552935265 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19739916 19739917 rs541306004 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19739949 19739950 rs182529423 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19739969 19739970 rs528762175 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19739993 19739994 rs10451745 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SC_SNP, 0 735 chr21 19740007 19740008 rs548532920 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19740029 19740030 rs572944842 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19740080 19740081 rs533110942 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19740089 19740090 rs760703721 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740119 19740120 rs778550159 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19740143 19740144 rs185782334 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740150 19740151 rs764078615 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740159 19740160 rs563383213 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19740168 19740169 rs147981493 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 735 chr21 19740180 19740181 rs745435893 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19740223 19740225 rs768869925 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740225 19740225 rs765873849 0 + - - -/AT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740232 19740233 rs866942628 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19740247 19740248 rs141613479 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19740261 19740262 rs2824777 0 + C C A/C genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 C, 418.000000, 1.000000, 735 chr21 19740272 19740273 rs190394435 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19740315 19740316 rs753416422 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740345 19740346 rs771490469 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19740362 19740363 rs534717620 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740397 19740398 rs768144297 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19740469 19740470 rs546941208 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19740473 19740474 rs147170020 0 + T T C/T genomic single by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 46.000000,4962.000000, 0.009185,0.990815, 735 chr21 19740495 19740496 rs140431316 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 735 chr21 19740555 19740556 rs544409500 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19740556 19740557 rs182940786 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740557 19740558 rs374223189 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19740591 19740592 rs150796262 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,LUNTER, 0 735 chr21 19740597 19740598 rs764838727 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740617 19740618 rs561136284 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740622 19740623 rs750160429 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740656 19740657 rs781684279 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19740687 19740688 rs186835585 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19740700 19740701 rs866331116 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19740722 19740723 rs2824778 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.335559 0.234904 intron exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1068.000000,3940.000000, 0.213259,0.786741, maf-5-some-pop,maf-5-all-pops 735 chr21 19740728 19740729 rs190285911 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19740731 19740732 rs144305291 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 735 chr21 19740735 19740736 rs776963211 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19740781 19740782 rs559113777 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740792 19740793 rs577867233 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19740824 19740825 rs545015607 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740829 19740830 rs563457512 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740839 19740840 rs147521616 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 735 chr21 19740855 19740856 rs549036444 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740860 19740861 rs561060096 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740891 19740892 rs528596098 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19740927 19740928 rs139338704 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19740944 19740945 rs150062657 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 25.000000,4983.000000, 0.004992,0.995008, 735 chr21 19740968 19740969 rs571146188 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19741049 19741050 rs532803085 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19741051 19741052 rs182536244 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19741087 19741088 rs188001593 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19741142 19741143 rs2824779 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.334642 0.235236 intron exact 1 21 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3944.000000,1064.000000, 0.787540,0.212460, maf-5-some-pop,maf-5-all-pops 735 chr21 19741147 19741148 rs555236868 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19741168 19741169 rs532190359 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19741179 19741180 rs769926506 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741188 19741189 rs567348942 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19741207 19741208 rs534466107 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19741232 19741233 rs773264371 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741256 19741257 rs749571529 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741272 19741273 rs373992117 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19741304 19741305 rs552924543 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19741329 19741330 rs56229305 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 intron exact 1 5 1000GENOMES,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4956.000000,52.000000, 0.989617,0.010383, maf-5-some-pop 735 chr21 19741346 19741347 rs759600220 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19741364 19741365 rs368170564 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19741429 19741430 rs545241884 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19741437 19741438 rs193053537 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19741471 19741472 rs771024518 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741474 19741475 rs868805938 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19741499 19741500 rs775382392 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741503 19741504 rs75695747 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19741504 19741505 rs773763387 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19741509 19741510 rs542395760 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19741516 19741517 rs775457722 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19741525 19741526 rs145392396 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19741528 19741529 rs149142898 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19741574 19741575 rs764135652 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741599 19741600 rs735587 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.061482 0.164198 intron exact 1 12 1000GENOMES,ABI,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 4849.000000,159.000000, 0.968251,0.031749, maf-5-some-pop 735 chr21 19741612 19741613 rs565238679 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19741613 19741614 rs866599059 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19741619 19741620 rs532426465 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19741653 19741654 rs761832434 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741671 19741672 rs551223381 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19741729 19741730 rs139278712 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,A, 55.000000,4953.000000, 0.010982,0.989018, 735 chr21 19741733 19741734 rs764891866 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741860 19741861 rs569557212 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19741878 19741879 rs749871635 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741883 19741884 rs530445731 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19741920 19741921 rs758102626 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741968 19741970 rs796795259 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741969 19741971 rs767504736 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741969 19741969 rs149977840 0 + - - -/AA/AG genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 MixedObserved 2 1000GENOMES,LUNTER, 0 735 chr21 19741971 19741971 rs758811595 0 + - - -/AG genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19741998 19741999 rs548797235 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19742002 19742003 rs567111332 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742003 19742004 rs765899933 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742073 19742074 rs751967158 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742075 19742076 rs374306172 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19742079 19742080 rs552796541 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19742094 19742095 rs571193181 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742116 19742117 rs2824780 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.337386 0.23423 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3932.000000,1076.000000, 0.785144,0.214856, maf-5-some-pop,maf-5-all-pops 735 chr21 19742124 19742125 rs143627484 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742207 19742208 rs781531193 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742209 19742213 rs763955620 0 + ATTC ATTC -/ATTC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19742234 19742235 rs555310011 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 735 chr21 19742283 19742284 rs575171948 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19742286 19742286 rs368685779 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 BILGI_BIOE, 0 735 chr21 19742289 19742290 rs372559743 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19742290 19742291 rs72631911 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 10 BCM-HGSC-SUB,BGI,BL,DDI,ENSEMBL,EVA_GENOME_DK,GMI,ILLUMINA,PJP,WEILL_CORNELL_DGM, 1 A, 8.000000, 1.000000, 735 chr21 19742290 19742290 rs148057792 0 + - - -/A/AA/AAA/AAAA genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 6 1000GENOMES,BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 0 rs-cluster-nonoverlapping-alleles 735 chr21 19742291 19742291 rs756577162 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 DDI, 0 735 chr21 19742298 19742298 rs67549160 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 AA, 2.000000, 1.000000, 735 chr21 19742305 19742306 rs375592716 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 735 chr21 19742325 19742326 rs575166879 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19742369 19742370 rs868062682 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19742375 19742376 rs557509778 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19742377 19742378 rs748710120 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742379 19742379 rs34998887 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19742397 19742398 rs11702131 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.225597 0.248806 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4359.000000,649.000000, 0.870407,0.129593, maf-5-some-pop 735 chr21 19742423 19742424 rs376798559 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19742424 19742425 rs9981106 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.336702 0.234484 intron exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1073.000000,3935.000000, 0.214257,0.785743, maf-5-some-pop,maf-5-all-pops 735 chr21 19742524 19742525 rs540697149 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19742600 19742601 rs565253082 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742609 19742610 rs146780351 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19742615 19742616 rs544595845 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19742628 19742629 rs12627311 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.499203 0.019952 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2604.000000,2404.000000, 0.519968,0.480032, maf-5-some-pop,maf-5-all-pops 735 chr21 19742634 19742635 rs771202863 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742650 19742651 rs778939519 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742695 19742696 rs530408313 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742710 19742714 rs778569877 0 + TATT TATT -/TATT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742733 19742734 rs548909083 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742749 19742750 rs560621634 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19742754 19742755 rs185563550 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19742761 19742762 rs546639182 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742776 19742777 rs10854426 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.031825 0.122064 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4927.000000,81.000000, 0.983826,0.016174, maf-5-some-pop 735 chr21 19742801 19742802 rs768633478 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19742848 19742849 rs140635426 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,T, 4960.000000,48.000000, 0.990415,0.009585, 735 chr21 19742914 19742918 rs376135762 0 + TTAG TTAG -/TTAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,SSMP, 2 -,TTAG, 25.000000,4983.000000, 0.004992,0.995008, 735 chr21 19742945 19742946 rs187947705 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742958 19742959 rs568551104 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19742970 19742971 rs536099532 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743037 19743038 rs761883873 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743056 19743057 rs748658526 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19743068 19743069 rs559541385 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19743091 19743092 rs145686228 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4983.000000,25.000000, 0.995008,0.004992, 735 chr21 19743094 19743095 rs113003963 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19743113 19743114 rs780745034 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743135 19743136 rs542192355 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743155 19743156 rs191985776 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19743163 19743164 rs766059864 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743180 19743181 rs558747185 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743208 19743209 rs140247317 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19743215 19743216 rs751237350 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743292 19743293 rs544759337 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743301 19743302 rs150381342 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19743328 19743329 rs184553146 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19743350 19743351 rs542513583 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19743373 19743374 rs369231332 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19743403 19743404 rs560635609 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743405 19743406 rs528021012 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19743440 19743441 rs374039917 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19743480 19743481 rs767916166 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743529 19743530 rs562090762 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743543 19743544 rs188672233 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 735 chr21 19743550 19743551 rs181581750 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19743569 19743570 rs756642358 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743576 19743577 rs532065063 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743578 19743579 rs184296140 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19743580 19743581 rs73323997 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 56.000000,4952.000000, 0.011182,0.988818, maf-5-some-pop 735 chr21 19743609 19743610 rs138068067 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19743628 19743629 rs778089184 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19743658 19743659 rs530856372 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19743682 19743683 rs78690410 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743701 19743702 rs145279342 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.043728 0.141251 intron exact 1 2 1000GENOMES,LUNTER, 2 -,G, 112.000000,4896.000000, 0.022364,0.977636, maf-5-some-pop 735 chr21 19743728 19743729 rs7281980 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.465052 0.127485 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3166.000000,1842.000000, 0.632188,0.367812, maf-5-some-pop,maf-5-all-pops 735 chr21 19743827 19743828 rs189570724 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19743890 19743891 rs564531344 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19743905 19743906 rs2824781 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.343924 0.231686 intron exact 1 19 1000GENOMES,ABI,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3903.000000,1105.000000, 0.779353,0.220647, maf-5-some-pop,maf-5-all-pops 735 chr21 19743913 19743914 rs114660727 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 735 chr21 19743926 19743927 rs538295661 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19743935 19743936 rs771297708 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19743943 19743944 rs540166237 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19743950 19743951 rs556716020 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19743977 19743978 rs180955115 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19744036 19744037 rs542227908 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19744194 19744195 rs554164326 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19744204 19744205 rs373390736 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19744243 19744244 rs546790674 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19744329 19744330 rs572643575 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19744334 19744335 rs186125843 0 + T T G/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19744415 19744415 rs71318139 0 + - - -/TG/TGTG genomic insertion by-cluster 0.5 0 intron between 1 InconsistentAlleles 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,SSMP, 2 -,TGTG, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19744444 19744444 rs112593800 0 + - - -/GTGTGT genomic insertion unknown 0.5 0 intron between 1 1 BUSHMAN, 2 -,GTGTGT, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19744450 19744456 rs59517605 0 + GTGTGT GTGTGT -/GTGTGT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 735 chr21 19744456 19744457 rs866293637 0 + C C C/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 735 chr21 19744456 19744456 rs56932398 0 + - - -/GT/GTGT/GTGTGT genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 3 GMI,HGSV,HUMANGENOME_JCVI, 1 GTGT, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 735 chr21 19744458 19744459 rs775533120 0 + A A A/G genomic single by-frequency 0.000052 0.005097 intron exact 1 1 EVA_EXAC, 2 A,G, 76972.000000,2.000000, 0.999974,0.000026, 735 chr21 19744459 19744460 rs760788821 0 + C C C/T genomic single by-frequency 0.000056 0.005279 intron exact 1 1 EVA_EXAC, 2 C,T, 71756.000000,2.000000, 0.999972,0.000028, 735 chr21 19744462 19744463 rs764265874 0 + T T C/T genomic single unknown 0.000021 0.00322 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,96411.000000, 0.000010,0.999990, 735 chr21 19744464 19744465 rs754118984 0 + A A A/T genomic single by-frequency 0.000089 0.006657 intron exact 1 1 EVA_EXAC, 2 A,T, 112801.000000,5.000000, 0.999956,0.000044, 735 chr21 19744466 19744467 rs761463957 0 + G G G/T genomic single by-frequency 0.000034 0.004147 intron exact 1 1 EVA_EXAC, 2 G,T, 116276.000000,2.000000, 0.999983,0.000017, 735 chr21 19744467 19744468 rs765095991 0 + G G C/G genomic single unknown 0.000017 0.002921 intron exact 1 1 EVA_EXAC, 2 C,G, 1.000000,117175.000000, 0.000009,0.999991, 735 chr21 19744468 19744469 rs750265544 0 + A A A/T genomic single unknown 0.000017 0.002912 intron exact 1 1 EVA_EXAC, 2 A,T, 117901.000000,1.000000, 0.999992,0.000008, 735 chr21 19744470 19744471 rs758356078 0 + G G A/G/T genomic single by-frequency 0.000034 0.004117 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,G,T, 1.000000,117970.000000,1.000000, 0.000008,0.999983,0.000008, 735 chr21 19744472 19744473 rs751092785 0 + T T C/T genomic single unknown 0.000017 0.002907 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,118299.000000, 0.000008,0.999992, 735 chr21 19744473 19744474 rs374439844 0 + A A A/T genomic single by-cluster,by-frequency 0.000152 0.008713 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,T, 118487.000000,9.000000, 0.999924,0.000076, 735 chr21 19744477 19744478 rs780953719 0 + C C C/T genomic single unknown 0.000017 0.002903 intron exact 1 1 EVA_EXAC, 2 C,T, 118687.000000,1.000000, 0.999992,0.000008, 735 chr21 19744480 19744481 rs747848562 0 + A A A/G genomic single by-frequency 0.000134 0.008198 intron exact 1 1 EVA_EXAC, 2 A,G, 118984.000000,8.000000, 0.999933,0.000067, 735 chr21 19744485 19744486 rs771132612 0 + G G G/T genomic single by-frequency 0.000034 0.004095 intron exact 1 1 EVA_EXAC, 2 G,T, 119260.000000,2.000000, 0.999983,0.000017, 735 chr21 19744489 19744490 rs779331211 0 + G G A/C/G genomic single by-frequency 0.00005 0.005012 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,G, 1.000000,2.000000,119415.000000, 0.000008,0.000017,0.999975, 735 chr21 19744493 19744494 rs753282582 0 + A A -/A genomic deletion unknown 0.000017 0.002895 intron exact 1 1 EVA_EXAC, 2 -,A, 1.000000,119313.000000, 0.000008,0.999992, 735 chr21 19744494 19744494 rs754713573 0 + - - -/G genomic insertion unknown 0.000016 0.00287 intron between 1 1 EVA_EXAC, 2 -,G, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19744495 19744496 rs772541752 0 + G G C/G/T genomic single by-frequency 0.000033 0.004086 intron exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 1.000000,119776.000000,1.000000, 0.000008,0.999983,0.000008, 735 chr21 19744504 19744505 rs760702875 0 + C C C/T genomic single unknown 0.000017 0.002886 intron exact 1 1 EVA_EXAC, 2 C,T, 120073.000000,1.000000, 0.999992,0.000008, 735 chr21 19744527 19744528 rs768742336 0 + C C C/T genomic single by-cluster,by-frequency 0.000431 0.014678 missense exact 1 2 EVA_EXAC,ILLUMINA, 2 C,T, 120528.000000,26.000000, 0.999784,0.000216, 735 chr21 19744528 19744529 rs776663117 0 + G G A/G genomic single by-frequency 0.000066 0.005759 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 4.000000,120596.000000, 0.000033,0.999967, 735 chr21 19744536 19744537 rs762102731 0 + C C C/G genomic single unknown 0.000017 0.002877 missense exact 1 1 EVA_EXAC, 2 C,G, 120841.000000,1.000000, 0.999992,0.000008, 735 chr21 19744537 19744538 rs368651677 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000298 0.012199 coding-synon exact 1 3 1000GENOMES,EVA_EXAC,NHLBI-ESP, 2 A,G, 125853.000000,19.000000, 0.999849,0.000151, 735 chr21 19744554 19744555 rs377566419 0 + C C C/T genomic single unknown 0 0 missense exact 1 1 SSMP, 0 735 chr21 19744585 19744586 rs141311532 0 + C C C/G/T genomic single by-cluster 0.000115 0.007597 coding-synon exact 1 SingleClassTriAllelic 2 EVA_EXAC,NHLBI-ESP, 3 C,G,T, 121245.000000,2.000000,5.000000, 0.999942,0.000016,0.000041, 735 chr21 19744591 19744592 rs766389032 0 + A A A/G genomic single unknown 0.000016 0.002872 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121265.000000,1.000000, 0.999992,0.000008, 735 chr21 19744592 19744593 rs751580110 0 + G G A/G genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121271.000000, 0.000008,0.999992, 735 chr21 19744600 19744601 rs754490153 0 + A A A/G genomic single unknown 0.000016 0.002871 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 121287.000000,1.000000, 0.999992,0.000008, 735 chr21 19744617 19744618 rs780853355 0 + G G G/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 G,T, 121241.000000,1.000000, 0.999992,0.000008, 735 chr21 19744622 19744623 rs531790255 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19744626 19744627 rs752213626 0 + C C C/G genomic single by-frequency 0.000033 0.004064 missense exact 1 1 EVA_EXAC, 2 C,G, 121090.000000,2.000000, 0.999983,0.000017, 735 chr21 19744642 19744643 rs543871957 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00005 0.004992 splice-3 exact 1 3 1000GENOMES,EVA_EXAC,ILLUMINA, 2 C,T, 6.000000,125352.000000, 0.000048,0.999952, 735 chr21 19744644 19744645 rs777338550 0 + T T C/T genomic single unknown 0.000067 0.005768 intron exact 1 1 EVA_EXAC, 2 C,T, 4.000000,120196.000000, 0.000033,0.999967, 735 chr21 19744645 19744645 rs764806583 0 + - - -/A genomic insertion unknown 0.000033 0.004079 intron between 1 1 EVA_EXAC, 2 -,A, 120196.000000,2.000000, 0.999983,0.000017, 735 chr21 19744659 19744660 rs746209618 0 + A A A/C genomic single unknown 0.000017 0.002896 intron exact 1 1 EVA_EXAC, 2 A,C, 119203.000000,1.000000, 0.999992,0.000008, 735 chr21 19744660 19744661 rs758789593 0 + T T C/T genomic single unknown 0.000017 0.002897 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,119127.000000, 0.000008,0.999992, 735 chr21 19744668 19744669 rs780487314 0 + C C A/C genomic single unknown 0.000017 0.002903 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,118649.000000, 0.000008,0.999992, 735 chr21 19744685 19744686 rs747524730 0 + A A A/G genomic single unknown 0.000017 0.002925 intron exact 1 1 EVA_EXAC, 2 A,G, 116903.000000,1.000000, 0.999991,0.000009, 735 chr21 19744686 19744687 rs201064987 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.00012 0.007743 intron exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 C,G,T, 121728.000000,7.000000,1.000000, 0.999934,0.000058,0.000008, 735 chr21 19744711 19744712 rs774506262 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19744734 19744735 rs529769603 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19744738 19744739 rs779041784 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19744740 19744741 rs113674441 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,T, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19744768 19744769 rs746129366 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19744772 19744773 rs746107250 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19744799 19744800 rs566690729 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19744836 19744837 rs370202723 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19744863 19744864 rs552450557 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19744923 19744924 rs866614908 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19745006 19745007 rs781166637 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745042 19745043 rs747905085 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745092 19745093 rs570525766 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745108 19745109 rs769867809 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745185 19745186 rs538053197 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19745208 19745209 rs772956387 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745230 19745231 rs74992886 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,C, 30.000000,4978.000000, 0.005990,0.994010, maf-5-some-pop 735 chr21 19745245 19745246 rs73196436 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 735 chr21 19745290 19745291 rs76430134 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 735 chr21 19745309 19745310 rs375846595 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19745311 19745312 rs553867489 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745312 19745313 rs777027841 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19745319 19745320 rs75201847 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19745320 19745321 rs572412021 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745325 19745326 rs773887651 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745333 19745334 rs540529659 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19745348 19745349 rs759224775 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745358 19745359 rs767114122 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745383 19745384 rs546132116 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19745404 19745405 rs760644030 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19745465 19745466 rs114328278 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 55.000000,4953.000000, 0.010982,0.989018, 735 chr21 19745468 19745469 rs576364168 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19745469 19745470 rs543591454 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745517 19745518 rs190932209 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19745553 19745554 rs181544998 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19745586 19745587 rs776711090 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19745604 19745605 rs113156515 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19745731 19745732 rs753079167 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745739 19745740 rs541918869 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745756 19745757 rs549039186 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19745837 19745838 rs370485787 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19745857 19745858 rs67307948 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.499839 0.008984 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2549.000000,2459.000000, 0.508986,0.491014, maf-5-some-pop,maf-5-all-pops 735 chr21 19745879 19745880 rs570742837 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19745920 19745921 rs754364761 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19745948 19745949 rs531665641 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745957 19745958 rs549997766 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745962 19745963 rs568300247 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19745997 19745998 rs535534757 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19746018 19746019 rs554241649 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19746080 19746081 rs537400198 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19746124 19746125 rs116658564 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19746149 19746150 rs557897312 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19746157 19746158 rs758026870 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19746159 19746160 rs576329049 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19746185 19746186 rs778902435 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19746244 19746245 rs537391223 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19746315 19746316 rs142758381 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 735 chr21 19746343 19746344 rs557735363 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19746382 19746383 rs62214996 0 + G G G/T genomic single unknown 0.5 0 intron exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19746441 19746442 rs73323999 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 735 chr21 19746511 19746512 rs570980049 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19746515 19746516 rs546971245 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19746561 19746562 rs368301886 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19746568 19746569 rs186022251 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19746617 19746618 rs545761404 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19746655 19746656 rs566794449 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19746682 19746683 rs533654713 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_GENOME_DK, 0 735 chr21 19746684 19746685 rs564117216 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19746695 19746696 rs531625004 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19746696 19746697 rs201225315 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19746706 19746707 rs191116934 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19746731 19746732 rs147366960 0 + G G C/G genomic single by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 1 1000GENOMES, 2 C,G, 56.000000,4952.000000, 0.011182,0.988818, 735 chr21 19746732 19746733 rs529105660 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19746755 19746759 rs386816761 0 + GTCC GTCC CTGG/GTCC genomic mnp unknown 0 0 intron rangeSubstitution 1 FlankMismatchGenomeEqual 1 TISHKOFF, 0 735 chr21 19746758 19746759 rs547313530 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19746760 19746761 rs566144241 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19746821 19746821 rs71189602 0 + - - -/A genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 A, 2.000000, 1.000000, 735 chr21 19746850 19746851 rs183370868 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19746886 19746887 rs573127420 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19746963 19746964 rs542506578 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19746981 19746982 rs748480430 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19747006 19747007 rs2824782 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.155656 0.231515 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4582.000000,426.000000, 0.914936,0.085064, maf-5-some-pop,genotype-conflict 735 chr21 19747011 19747012 rs868787074 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19747014 19747015 rs112458430 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19747041 19747042 rs575904123 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19747101 19747102 rs537300646 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19747120 19747121 rs564699428 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19747127 19747128 rs555663828 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747214 19747215 rs115396874 0 + G G A/G genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 735 chr21 19747219 19747220 rs762528679 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19747241 19747242 rs535203104 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747296 19747297 rs553317880 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19747300 19747301 rs572103857 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747312 19747313 rs374555483 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19747335 19747336 rs113172937 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 735 chr21 19747352 19747353 rs564027580 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747392 19747393 rs368962937 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19747398 19747402 rs773413936 0 + TCTG TCTG -/TCTG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19747399 19747400 rs775003968 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19747421 19747422 rs576107503 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19747452 19747453 rs755929760 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19747458 19747459 rs188057879 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19747485 19747486 rs561976384 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19747497 19747498 rs371486634 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19747508 19747509 rs777610215 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19747510 19747511 rs529203511 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19747540 19747541 rs376620691 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19747569 19747570 rs559327922 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747761 19747762 rs533427328 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747772 19747773 rs749231766 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19747788 19747789 rs757577809 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19747814 19747815 rs74347880 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19747823 19747824 rs569687314 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747882 19747883 rs140015511 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19747895 19747896 rs745330332 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19747906 19747907 rs549001499 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19747921 19747922 rs200167801 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19747937 19747938 rs111892325 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19747983 19747984 rs771722771 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19747992 19747993 rs567925865 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19748039 19748040 rs775052315 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748049 19748050 rs779290647 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19748069 19748070 rs535054542 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19748074 19748075 rs553521421 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748091 19748092 rs190889738 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19748094 19748095 rs367905879 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19748112 19748113 rs10084570 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.013097 0.079902 intron exact 1 SingleClassTriAllelic 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP, 3 A,C,G, 4975.000000,31.000000,2.000000, 0.993411,0.006190,0.000399, 735 chr21 19748133 19748134 rs564495209 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_DECODE,EVA_GENOME_DK, 0 735 chr21 19748148 19748149 rs73893086 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 5 1000GENOMES,ILLUMINA-UK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 42.000000,4966.000000, 0.008387,0.991613, 735 chr21 19748157 19748158 rs547924290 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19748159 19748160 rs144294552 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19748164 19748165 rs11088675 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.499784 0.010381 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2452.000000,2556.000000, 0.489617,0.510383, maf-5-some-pop,maf-5-all-pops 735 chr21 19748222 19748223 rs555451181 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748223 19748224 rs74525913 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 68.000000,4940.000000, 0.013578,0.986422, maf-5-some-pop 735 chr21 19748256 19748257 rs8130892 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.195837 0.244062 intron exact 1 14 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 551.000000,4457.000000, 0.110024,0.889976, maf-5-some-pop,maf-5-all-pops 735 chr21 19748288 19748289 rs114123996 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19748307 19748308 rs750546468 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748327 19748328 rs758486587 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748334 19748335 rs10854427 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.499515 0.015568 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2426.000000,2582.000000, 0.484425,0.515575, maf-5-some-pop,maf-5-all-pops 735 chr21 19748382 19748383 rs751888084 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748426 19748427 rs145231264 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 735 chr21 19748468 19748469 rs769684752 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19748493 19748494 rs375707951 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19748517 19748518 rs796709543 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 HAMMER_LAB, 0 735 chr21 19748517 19748517 rs11438174 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.139225 0.224118 intron between 1 DuplicateObserved 10 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PJP, 2 -,T, 377.000000,4631.000000, 0.075280,0.924720, maf-5-some-pop 735 chr21 19748529 19748530 rs201594637 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19748529 19748529 rs397710323 0 + - - -/A/T/TA genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 7 ABI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 735 chr21 19748532 19748533 rs199508623 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19748563 19748564 rs749067516 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748592 19748593 rs142386706 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.138207 0.223612 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 374.000000,4634.000000, 0.074680,0.925319, maf-5-some-pop 735 chr21 19748599 19748600 rs530939463 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748621 19748622 rs535851868 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19748624 19748625 rs182328487 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,DDI,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19748699 19748700 rs369865064 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748704 19748705 rs757162365 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748710 19748711 rs528742431 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748735 19748736 rs546978014 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19748738 19748739 rs571781102 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19748740 19748741 rs539248241 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748759 19748760 rs372415817 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19748767 19748768 rs762654697 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19748781 19748782 rs111744345 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 735 chr21 19748809 19748810 rs569766050 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19748810 19748811 rs778760862 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748839 19748840 rs537185740 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748843 19748844 rs555531630 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19748846 19748847 rs143567857 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748879 19748880 rs745383456 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748887 19748888 rs771632845 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19748980 19748981 rs573561714 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19748996 19748997 rs187709159 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19748997 19748998 rs150983556 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19749029 19749030 rs538625599 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19749042 19749043 rs192699097 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749054 19749055 rs183017703 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19749069 19749070 rs551359677 0 + C C A/G genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 735 chr21 19749086 19749087 rs563188808 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749089 19749090 rs550926776 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749117 19749118 rs375739392 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19749125 19749126 rs530901471 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19749138 19749139 rs776884376 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749151 19749152 rs113765306 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19749165 19749166 rs762182403 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749177 19749178 rs558888173 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19749178 19749179 rs542721499 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19749205 19749206 rs561286394 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749214 19749215 rs115682589 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 735 chr21 19749234 19749235 rs765667186 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749237 19749238 rs773923435 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749279 19749280 rs575582192 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19749306 19749307 rs187641695 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19749370 19749371 rs547235608 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19749371 19749372 rs370231094 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19749402 19749403 rs192638650 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19749419 19749420 rs532905384 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19749424 19749425 rs766614969 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749425 19749426 rs551189436 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19749432 19749433 rs759706894 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749459 19749460 rs376085242 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19749481 19749482 rs768905763 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19749488 19749488 rs765049268 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749493 19749494 rs767726509 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749505 19749506 rs2039251 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.151668 0.229849 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 414.000000,4594.000000, 0.082668,0.917332, maf-5-some-pop 735 chr21 19749514 19749515 rs117577817 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 4 1000GENOMES,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 33.000000,4975.000000, 0.006589,0.993411, 735 chr21 19749552 19749553 rs548826923 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749572 19749573 rs757809191 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19749629 19749630 rs567219367 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749630 19749631 rs78242861 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.072631 0.176182 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 189.000000,4819.000000, 0.037740,0.962260, maf-5-some-pop 735 chr21 19749632 19749633 rs116409926 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 57.000000,4951.000000, 0.011382,0.988618, 735 chr21 19749670 19749671 rs184781546 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19749675 19749676 rs577511302 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749682 19749683 rs567045727 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19749690 19749691 rs535634613 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19749698 19749699 rs538587391 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749718 19749719 rs146076572 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19749719 19749720 rs575098477 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749730 19749731 rs117419788 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19749789 19749790 rs561238879 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749834 19749835 rs573319756 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749888 19749889 rs2824783 0 + T T G/T genomic single by-frequency 0.408163 0.193609 intron exact 1 1 PERLEGEN, 2 G,T, 2.000000,5.000000, 0.285714,0.714286, 735 chr21 19749892 19749893 rs189647731 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19749908 19749909 rs73324001 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 115.000000,4893.000000, 0.022963,0.977037, maf-5-some-pop 735 chr21 19749910 19749911 rs532816849 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19749961 19749962 rs138667592 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19749987 19749988 rs540436802 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19749991 19749992 rs192563889 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA-GONL, 0 735 chr21 19750029 19750030 rs530333735 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19750042 19750043 rs548799432 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19750077 19750078 rs2824784 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.08836 0.190715 intron exact 1 20 1000GENOMES,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 232.000000,4776.000000, 0.046326,0.953674, maf-5-some-pop 735 chr21 19750149 19750150 rs780832174 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750162 19750163 rs534763966 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19750178 19750179 rs542764470 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 -,T, 14.000000,4994.000000, 0.002796,0.997204, 735 chr21 19750226 19750238 rs747259756 0 + CAGGTATGTCTT CAGGTATGTCTT -/CAGGTATGTCTT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19750234 19750235 rs747751499 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750261 19750262 rs546268506 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19750276 19750277 rs78726097 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19750277 19750278 rs773688387 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750318 19750319 rs763593353 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750325 19750326 rs538498031 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19750353 19750354 rs556856087 0 + A A A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,C, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19750399 19750400 rs771523997 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750411 19750412 rs575058509 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19750417 19750418 rs575715358 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19750419 19750420 rs554775318 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19750421 19750422 rs573249768 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19750426 19750427 rs2824785 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.432797 0.170544 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1586.000000,3422.000000, 0.316693,0.683307, maf-5-some-pop,genotype-conflict 735 chr21 19750438 19750439 rs540730419 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19750500 19750501 rs781464905 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19750616 19750617 rs565235809 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19750640 19750640 rs560611122 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750650 19750651 rs113619645 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19750662 19750663 rs577334906 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19750696 19750697 rs544885379 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19750711 19750712 rs371330756 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19750717 19750718 rs759600138 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750718 19750719 rs376247424 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,C, 19.000000,4989.000000, 0.003794,0.996206, 735 chr21 19750776 19750777 rs537615305 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19750809 19750810 rs767634733 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19750832 19750833 rs530453597 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19750841 19750842 rs146961613 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19750865 19750866 rs773057120 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19750882 19750883 rs2027613 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.031439 0.121371 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 735 chr21 19750921 19750922 rs528133179 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19750929 19750930 rs546677824 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19750942 19750943 rs570882028 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19750961 19750962 rs183790441 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19751029 19751030 rs116931147 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19751052 19751053 rs2824786 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.195837 0.244062 intron exact 1 17 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 551.000000,4457.000000, 0.110024,0.889976, maf-5-some-pop 735 chr21 19751070 19751071 rs189283426 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19751088 19751089 rs562716825 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19751119 19751120 rs758357002 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19751120 19751121 rs867373620 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19751153 19751154 rs554428898 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19751153 19751153 rs552035017 0 + - - -/TGAA genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 MixedObserved 1 1000GENOMES, 2 -,TGAA, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19751176 19751177 rs779910299 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19751188 19751189 rs111288964 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 4 BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19751210 19751211 rs566664342 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19751233 19751234 rs181988351 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19751253 19751254 rs751038981 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19751264 19751264 rs531489175 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 735 chr21 19751315 19751316 rs754584389 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19751465 19751466 rs557565164 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19751477 19751477 rs770779828 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19751498 19751499 rs185780325 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 735 chr21 19751500 19751501 rs577448518 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19751512 19751513 rs544595826 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19751550 19751555 rs773833996 0 + AAGAG AAGAG -/AAGAG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 735 chr21 19751585 19751586 rs748238287 0 + T T A/T genomic single by-frequency 0.000518 0.016086 intron exact 1 1 EVA_EXAC, 2 A,T, 4.000000,15434.000000, 0.000259,0.999741, 735 chr21 19751599 19751600 rs556642574 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 missense exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19751603 19751604 rs2027614 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.00708 0.059077 coding-synon exact 1 8 1000GENOMES,ABI,EVA_EXAC,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 20667.000000,103.000000, 0.995041,0.004959, 735 chr21 19751609 19751610 rs773347274 0 + C C C/G genomic single unknown 0.000127 0.007956 coding-synon exact 1 1 EVA_EXAC, 2 C,G, 15791.000000,1.000000, 0.999937,0.000063, 735 chr21 19751629 19751630 rs762798722 0 + G G G/T genomic single unknown 0.000127 0.007983 missense exact 1 1 EVA_EXAC, 2 G,T, 15687.000000,1.000000, 0.999936,0.000064, 735 chr21 19751631 19751631 rs35893025 0 + - - -/C genomic insertion unknown 0 0 frameshift between 1 1 ABI, 0 735 chr21 19751641 19751642 rs542517145 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19751650 19751651 rs560434009 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19751691 19751692 rs527907815 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19751700 19751701 rs539906764 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19751708 19751709 rs759226736 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19751710 19751711 rs144361468 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19751724 19751725 rs532102287 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19751748 19751749 rs190119022 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19751772 19751773 rs181767290 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19751881 19751882 rs529902702 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19751916 19751917 rs186331043 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19751989 19751990 rs577492213 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19751994 19751995 rs148767697 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19752037 19752038 rs530200826 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19752045 19752046 rs191186083 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19752068 19752069 rs747883172 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752077 19752078 rs540180325 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19752080 19752081 rs182290292 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19752136 19752137 rs546814950 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19752150 19752151 rs752257678 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19752175 19752176 rs375290667 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19752251 19752252 rs769539185 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752257 19752258 rs778312636 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752274 19752275 rs749620509 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752313 19752314 rs551289272 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752316 19752317 rs185480891 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19752349 19752350 rs190980415 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19752382 19752383 rs183511125 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 735 chr21 19752391 19752392 rs762299750 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19752404 19752405 rs765593157 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19752419 19752420 rs570906511 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19752430 19752431 rs200865320 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19752445 19752446 rs759952115 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752456 19752457 rs112058274 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 4 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19752469 19752470 rs77277868 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19752470 19752471 rs527327106 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19752483 19752483 rs200672874 0 + - - -/TC genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 735 chr21 19752484 19752488 rs201427865 0 + CACA CACA -/CACA genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 735 chr21 19752484 19752484 rs144691737 0 + - - -/CA/CACA genomic insertion by-cluster,by-frequency,by-1000genomes 0.329783 0.236927 intron between 1 MixedObserved,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,CA, 3965.000000,1043.000000, 0.791733,0.208267, maf-5-some-pop,maf-5-all-pops 735 chr21 19752485 19752486 rs112897950 0 + A A A/T genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 6 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19752487 19752488 rs867458131 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 735 chr21 19752487 19752487 rs781682782 0 + - - -/AA/ACAA genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752494 19752495 rs796544778 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 735 chr21 19752523 19752524 rs201847845 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 735 chr21 19752523 19752523 rs34787707 0 + - - -/AC genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 3 ABI,GMI,HUMANGENOME_JCVI, 1 AC, 2.000000, 1.000000, 735 chr21 19752571 19752572 rs866235563 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19752590 19752591 rs760923295 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752598 19752599 rs554460546 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19752659 19752660 rs566983625 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19752700 19752701 rs567203351 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19752701 19752702 rs545965529 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19752720 19752721 rs560082176 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,C, 56.000000,4952.000000, 0.011182,0.988818, maf-5-some-pop 735 chr21 19752743 19752744 rs532067044 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19752770 19752771 rs766160588 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752804 19752805 rs868637822 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19752836 19752837 rs751572745 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752844 19752845 rs766301099 0 + A A A/G genomic single by-frequency 0.000365 0.013502 intron exact 1 1 EVA_EXAC, 2 A,G, 16439.000000,3.000000, 0.999818,0.000182, 735 chr21 19752893 19752894 rs750950462 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19752895 19752896 rs41421549 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.00716 0.059402 intron exact 1 8 1000GENOMES,AFFY,AFFY_GWHS,COMPLETE_GENOMICS,EVA_EXAC,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 21255.000000,175.000000, 0.991834,0.008166, maf-5-some-pop 735 chr21 19752899 19752900 rs193043065 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19752910 19752911 rs754849478 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19752917 19752918 rs752324596 0 + T T -/T genomic deletion unknown 0.000122 0.007809 intron exact 1 1 EVA_EXAC, 2 -,T, 1.000000,16393.000000, 0.000061,0.999939, 735 chr21 19752941 19752942 rs529708777 0 + T T C/T genomic single by-1000genomes 0.000122 0.007819 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 2.000000,21356.000000, 0.000094,0.999906, 735 chr21 19752950 19752951 rs7283705 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.003307 0.040526 intron exact 1 6 1000GENOMES,BCM_SSAHASNP,EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 21245.000000,67.000000, 0.996856,0.003144, 735 chr21 19752961 19752962 rs866612146 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19753036 19753037 rs560377194 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753060 19753061 rs527634144 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753063 19753064 rs752109092 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753068 19753069 rs111695149 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19753088 19753089 rs552393091 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19753089 19753090 rs755851042 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753102 19753103 rs183478731 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19753116 19753117 rs375256697 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753123 19753124 rs550317797 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753159 19753160 rs188082338 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19753160 19753161 rs146380069 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753200 19753201 rs191845200 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753205 19753206 rs751804560 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19753208 19753209 rs553906897 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753220 19753221 rs116496954 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 735 chr21 19753221 19753222 rs539783000 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19753225 19753238 rs778012661 0 + CATCTTGGCATAC CATCTTGGCATAC -/CATCTTGGCATAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753228 19753229 rs749671954 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753232 19753233 rs796703105 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 735 chr21 19753238 19753239 rs557886020 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19753271 19753272 rs183574597 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19753289 19753290 rs188263179 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19753314 19753315 rs562588472 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753319 19753320 rs574479756 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19753418 19753419 rs139535732 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19753423 19753424 rs55874336 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,HGSV, 0 735 chr21 19753453 19753454 rs772422135 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753457 19753458 rs573513839 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19753482 19753483 rs549277853 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19753495 19753496 rs775664217 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753505 19753506 rs2824787 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.499713 0.011977 intron exact 1 28 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 2444.000000,2564.000000, 0.488019,0.511981, maf-5-some-pop,maf-5-all-pops 735 chr21 19753511 19753512 rs768871275 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753529 19753530 rs527545379 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19753544 19753545 rs776906759 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753545 19753546 rs144182911 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4989.000000,19.000000, 0.996206,0.003794, 735 chr21 19753612 19753613 rs538519318 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19753620 19753621 rs191355419 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753685 19753686 rs768381613 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19753706 19753707 rs531549235 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19753712 19753713 rs75254171 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 735 chr21 19753714 19753715 rs558537639 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19753749 19753750 rs549741835 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19753758 19753759 rs748306351 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19753798 19753799 rs542607569 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19753812 19753813 rs762009086 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753835 19753836 rs766246568 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753836 19753837 rs773985150 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753906 19753907 rs759548907 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753922 19753923 rs767306091 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19753930 19753931 rs2824788 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.137867 0.223442 intron exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 4635.000000,373.000000, 0.925519,0.074481, maf-5-some-pop 735 chr21 19754052 19754053 rs547759320 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754056 19754057 rs565743552 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19754065 19754066 rs184565086 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19754073 19754074 rs534146036 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19754103 19754104 rs558046238 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754107 19754108 rs190415980 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19754113 19754114 rs538246576 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19754151 19754152 rs554155944 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19754152 19754153 rs376526807 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19754180 19754181 rs537226379 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754223 19754224 rs151031763 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19754246 19754247 rs574013031 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19754248 19754249 rs746995855 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754253 19754254 rs116928210 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19754254 19754255 rs181607868 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754270 19754271 rs753598430 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754332 19754333 rs139804405 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19754396 19754397 rs572090758 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754408 19754409 rs186976948 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19754419 19754420 rs1888409 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.310386 0.242597 intron exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 962.000000,4046.000000, 0.192093,0.807907, maf-5-some-pop,maf-5-all-pops 735 chr21 19754425 19754426 rs189815878 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19754455 19754456 rs149796476 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19754479 19754480 rs181390695 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754487 19754488 rs544892114 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754505 19754506 rs1888410 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.347914 0.230028 intron exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1123.000000,3885.000000, 0.224241,0.775759, maf-5-some-pop,maf-5-all-pops 735 chr21 19754507 19754508 rs745507412 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19754571 19754572 rs375525873 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19754584 19754585 rs562412219 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19754592 19754593 rs547597892 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19754605 19754606 rs145006675 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19754625 19754626 rs527584207 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19754669 19754670 rs780361497 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754681 19754682 rs6517811 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.031439 0.121371 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 735 chr21 19754693 19754694 rs185239601 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19754725 19754726 rs768783446 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754758 19754762 rs546961954 0 + TCAA TCAA -/TCAA genomic deletion by-cluster 0 0 intron range 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754817 19754818 rs776670914 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754823 19754824 rs189737094 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754828 19754829 rs537386610 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754876 19754877 rs182349578 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19754945 19754946 rs187222515 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19754952 19754953 rs769865698 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19754987 19754988 rs553993373 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19754996 19754997 rs775125521 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19755029 19755030 rs59499965 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.142272 0.225598 intron exact 1 15 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 386.000000,4622.000000, 0.077077,0.922923, maf-5-some-pop 735 chr21 19755063 19755064 rs759194231 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19755068 19755069 rs772048750 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19755108 19755118 rs549877471 0 + CTCAACAATA CTCAACAATA -/CTCAACAATA genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 735 chr21 19755135 19755136 rs553598605 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755155 19755156 rs191978318 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755171 19755172 rs545791282 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755180 19755181 rs546073513 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19755195 19755196 rs557832813 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19755280 19755281 rs576395008 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755322 19755323 rs868097694 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19755337 19755338 rs775632404 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19755340 19755341 rs183617108 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19755357 19755358 rs561872816 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755379 19755380 rs760674946 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19755382 19755383 rs529094800 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755397 19755398 rs142123186 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19755417 19755418 rs569350133 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755438 19755439 rs533297131 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755449 19755450 rs551354827 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19755464 19755465 rs188509876 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19755537 19755538 rs7275275 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 6 BCMHGSC_JDW,BCM_SSAHASNP,BL,DDI,SSMP,WEILL_CORNELL_DGM, 0 735 chr21 19755678 19755733 rs58025820 0 + GAATGCATAATACCCACAAACTTCTGTGCATGCCAACACTCTCAGAATCTCCTTG GAATGCATAATACCCACAAACTTCTGTGCATGCCAACACTCTCAGAATCTCCTTG lengthTooLong genomic in-del unknown 0 0 intron range 1 ObservedTooLong 1 HGSV, 0 735 chr21 19755688 19755689 rs2298406 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.447421 0.153379 intron exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 G,T, 1692.000000,3316.000000, 0.337859,0.662141, maf-5-some-pop,maf-5-all-pops 735 chr21 19755691 19755692 rs549434906 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19755714 19755715 rs147841309 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19755779 19755780 rs371162278 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WARNICH_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19755845 19755846 rs553629482 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19755848 19755849 rs35909926 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 7 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19755876 19755877 rs190019873 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19755904 19755905 rs370742430 0 + C C A/C genomic single by-cluster 0.000017 0.00291 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 1.000000,118103.000000, 0.000008,0.999992, 735 chr21 19755908 19755909 rs557744870 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000101 0.007119 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 123365.000000,11.000000, 0.999911,0.000089, 735 chr21 19755918 19755919 rs763758058 0 + G G G/T genomic single by-frequency 0.00005 0.00502 intron exact 1 1 EVA_EXAC, 2 G,T, 119019.000000,3.000000, 0.999975,0.000025, 735 chr21 19755925 19755926 rs575950199 0 + A A A/G genomic single by-1000genomes 0.000251 0.011197 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 124560.000000,16.000000, 0.999872,0.000128, 735 chr21 19755930 19755931 rs758701579 0 + T T C/T genomic single unknown 0.000017 0.002887 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,119933.000000, 0.000008,0.999992, 735 chr21 19755936 19755937 rs780405170 0 + C C C/T genomic single by-frequency 0.000033 0.004077 intron exact 1 1 EVA_EXAC, 2 C,T, 120310.000000,2.000000, 0.999983,0.000017, 735 chr21 19755941 19755942 rs543669116 0 + A A A/G genomic single by-1000genomes 0.000017 0.00288 splice-5 exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 125574.000000,2.000000, 0.999984,0.000016, 735 chr21 19755951 19755952 rs755469028 0 + T T C/G/T genomic single by-frequency 0.000033 0.004068 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 1.000000,1.000000,120828.000000, 0.000008,0.000008,0.999983, 735 chr21 19755952 19755953 rs374403435 0 + C C A/C genomic single by-cluster 0.000017 0.002877 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 1.000000,120827.000000, 0.000008,0.999992, 735 chr21 19755955 19755956 rs377303023 0 + C C C/T genomic single by-cluster,by-frequency 0.000066 0.005752 missense exact 1 2 EVA_EXAC,SSMP, 2 C,T, 120858.000000,4.000000, 0.999967,0.000033, 735 chr21 19755956 19755957 rs571792561 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000149 0.008627 coding-synon exact 1 3 1000GENOMES,EVA_EXAC,JMKIDD_LAB, 2 A,G, 10.000000,125884.000000, 0.000079,0.999921, 735 chr21 19755957 19755958 rs749536036 0 + C C C/T genomic single by-frequency 0.000033 0.004067 missense exact 1 1 EVA_EXAC, 2 C,T, 120898.000000,2.000000, 0.999983,0.000017, 735 chr21 19755958 19755959 rs771344271 0 + T T C/T genomic single unknown 0.000017 0.002876 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120909.000000, 0.000008,0.999992, 735 chr21 19755965 19755966 rs774272961 0 + A A A/G genomic single unknown 0.000017 0.002875 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120961.000000,1.000000, 0.999992,0.000008, 735 chr21 19755978 19755979 rs759452327 0 + G G C/G genomic single unknown 0.000017 0.002875 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,120963.000000, 0.000008,0.999992, 735 chr21 19755981 19755982 rs573907615 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00005 0.00498 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,T, 125973.000000,5.000000, 0.999960,0.000040, 735 chr21 19755989 19755990 rs571938840 0 + G G C/G genomic single unknown 0 0 missense exact 1 1 EVA-GONL, 0 735 chr21 19755995 19755996 rs775317185 0 + T T C/T genomic single unknown 0.000017 0.002877 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120841.000000, 0.000008,0.999992, 735 chr21 19756007 19756008 rs760179906 0 + A A A/G genomic single unknown 0.000017 0.002879 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 120643.000000,1.000000, 0.999992,0.000008, 735 chr21 19756008 19756009 rs201782932 0 + A A A/G genomic single unknown 0.001998 0.031544 missense exact 1 NonIntegerChromCount 1 CLINSEQ_SNP, 2 A,G, 1320.680054,1.322000, 0.999000,0.001000, 735 chr21 19756011 19756012 rs182431978 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00063 0.017742 missense exact 1 4 1000GENOMES,EVA_EXAC,EXOME_CHIP,ILLUMINA, 2 A,C, 43.000000,125501.000000, 0.000343,0.999658, 735 chr21 19756018 19756019 rs367982925 0 + T T C/T genomic single by-cluster 0.000017 0.002883 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,120345.000000, 0.000008,0.999992, 735 chr21 19756022 19756025 rs758791400 0 + TTC TTC -/TTC genomic deletion unknown 0.000017 0.002884 cds-indel range 1 1 EVA_EXAC, 2 -,TTC, 1.000000,120205.000000, 0.000008,0.999992, 735 chr21 19756027 19756028 rs371789215 0 + C C C/G genomic single by-cluster,by-frequency 0.000067 0.005776 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,G, 119870.000000,4.000000, 0.999967,0.000033, 735 chr21 19756029 19756030 rs764930286 0 + T T C/T genomic single unknown 0.000017 0.002889 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,119827.000000, 0.000008,0.999992, 735 chr21 19756034 19756035 rs757469008 0 + A A A/G genomic single unknown 0 0 coding-synon exact 1 1 EVA_MGP, 0 735 chr21 19756035 19756036 rs751903380 0 + T T A/T genomic single unknown 0.000017 0.002892 missense exact 1 1 EVA_EXAC, 2 A,T, 1.000000,119535.000000, 0.000008,0.999992, 735 chr21 19756038 19756039 rs755338837 0 + T T G/T genomic single unknown 0.000017 0.002895 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,119317.000000, 0.000008,0.999992, 735 chr21 19756039 19756040 rs2824790 0 + C C C/G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.384598 0.210674 missense exact 1 SingleClassTriAllelic,InconsistentAlleles 34 1000GENOMES,ABI,AFFY,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 91852.000000,32006.000000, 0.741591,0.258409, maf-5-some-pop 735 chr21 19756040 19756041 rs200320922 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 coding-synon exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19756049 19756050 rs753168111 0 + C C A/C/G genomic single by-frequency 0.000034 0.00414 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 A,C,G, 1.000000,116682.000000,1.000000, 0.000009,0.999983,0.000009, 735 chr21 19756051 19756052 rs143461162 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000069 0.005859 missense exact 1 6 1000GENOMES,EVA_EXAC,EVA_MGP,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 A,G, 121517.000000,5.000000, 0.999959,0.000041, 735 chr21 19756065 19756066 rs780727938 0 + A A A/C/G genomic single unknown 0.000018 0.002958 missense exact 1 SingleClassTriAllelic,InconsistentAlleles 2 EVA_EXAC,EVA_GENOME_DK, 2 A,C, 114247.000000,1.000000, 0.999991,0.000009, 735 chr21 19756066 19756067 rs771256244 0 + G G A/G genomic single unknown 0.000018 0.002964 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,113823.000000, 0.000009,0.999991, 735 chr21 19756074 19756075 rs779318358 0 + A A A/G genomic single unknown 0.000018 0.002984 missense exact 1 1 EVA_EXAC, 2 A,G, 112291.000000,1.000000, 0.999991,0.000009, 735 chr21 19756075 19756076 rs745615256 0 + C C C/T genomic single by-frequency 0.000036 0.004228 missense exact 1 1 EVA_EXAC, 2 C,T, 111870.000000,2.000000, 0.999982,0.000018, 735 chr21 19756076 19756077 rs200820066 0 + G G A/C/G genomic single by-cluster 0.000036 0.004234 coding-synon exact 1 SingleClassTriAllelic,InconsistentAlleles 2 CLINSEQ_SNP,EVA_EXAC, 2 C,G, 2.000000,111576.000000, 0.000018,0.999982, 735 chr21 19756079 19756080 rs187061515 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001045 0.022839 missense exact 1 7 1000GENOMES,BGI,EVA_EXAC,EXOME_CHIP,ILLUMINA,JMKIDD_LAB,SSMP, 2 C,T, 72.000000,115838.000000, 0.000621,0.999379, 735 chr21 19756111 19756112 rs752033005 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19756114 19756115 rs760532400 0 + A A A/G genomic single by-frequency 0.000138 0.008298 intron exact 1 1 EVA_EXAC, 2 A,G, 101617.000000,7.000000, 0.999931,0.000069, 735 chr21 19756118 19756119 rs768708209 0 + G G A/G genomic single unknown 0.00002 0.00315 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,100759.000000, 0.000010,0.999990, 735 chr21 19756120 19756121 rs530824222 0 + G G C/G genomic single by-1000genomes 0.00002 0.003157 intron exact 1 MixedObserved 2 1000GENOMES,EVA_EXAC, 2 C,G, 2.000000,105314.000000, 0.000019,0.999981, 735 chr21 19756120 19756120 rs778066021 0 + - - -/G genomic insertion unknown 0.00002 0.003151 intron between 1 MixedObserved 1 EVA_EXAC, 2 -,G, 100683.000000,1.000000, 0.999990,0.000010, 735 chr21 19756122 19756123 rs761365188 0 + A A A/G genomic single by-frequency 0.00004 0.004476 intron exact 1 1 EVA_EXAC, 2 A,G, 99806.000000,2.000000, 0.999980,0.000020, 735 chr21 19756126 19756130 rs374545955 0 + AGTC AGTC -/AGTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.001972 0.03134 intron range 1 3 1000GENOMES,EVA_EXAC,WARNICH_LAB, 2 -,AGTC, 117.000000,104177.000000, 0.001122,0.998878, 735 chr21 19756136 19756137 rs764842465 0 + C C A/C genomic single by-frequency 0.000042 0.004582 intron exact 1 1 EVA_EXAC, 2 A,C, 2.000000,95268.000000, 0.000021,0.999979, 735 chr21 19756142 19756143 rs750106878 0 + C C A/C genomic single unknown 0.000022 0.003291 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,92349.000000, 0.000011,0.999989, 735 chr21 19756146 19756147 rs759897678 0 + T T C/T genomic single unknown 0.000016 0.002871 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121297.000000, 0.000008,0.999992, 735 chr21 19756159 19756160 rs758756556 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756168 19756169 rs549390928 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19756186 19756187 rs147980961 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19756215 19756216 rs141703208 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 19.000000,4989.000000, 0.003794,0.996206, 735 chr21 19756232 19756233 rs767783108 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19756322 19756323 rs755448546 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756353 19756354 rs150103533 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19756354 19756355 rs781280541 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756360 19756361 rs571879868 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19756382 19756383 rs138965449 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19756410 19756411 rs191115107 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19756416 19756417 rs113301287 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 BUSHMAN, 0 735 chr21 19756420 19756421 rs770068373 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756440 19756441 rs752983474 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19756458 19756459 rs569767537 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19756472 19756473 rs756104504 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19756484 19756485 rs777789822 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756535 19756536 rs536622418 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19756541 19756542 rs184353441 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19756560 19756561 rs749518326 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756597 19756598 rs142111758 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4984.000000,24.000000, 0.995208,0.004792, 735 chr21 19756632 19756633 rs534615401 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19756643 19756644 rs374367350 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19756668 19756669 rs552706213 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19756681 19756682 rs536343146 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756710 19756711 rs760732179 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756718 19756719 rs577439082 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19756721 19756722 rs73325910 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 58.000000,4950.000000, 0.011582,0.988419, maf-5-some-pop 735 chr21 19756750 19756751 rs563613072 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19756753 19756754 rs768668309 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756764 19756765 rs17836456 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.26818 0.249338 intron exact 1 14 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 799.000000,4209.000000, 0.159545,0.840455, maf-5-some-pop 735 chr21 19756793 19756794 rs761165672 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756817 19756818 rs542648984 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19756838 19756839 rs561371486 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19756839 19756840 rs576137171 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19756856 19756857 rs764802956 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756861 19756862 rs750102027 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756890 19756891 rs762644651 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756928 19756929 rs372168921 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19756943 19756944 rs528739198 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19756971 19756972 rs531470335 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19756981 19756982 rs766772704 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19756988 19756989 rs565449494 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19757015 19757016 rs532768841 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19757025 19757026 rs544758010 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19757026 19757027 rs751882859 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19757027 19757028 rs146397597 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19757124 19757125 rs569648829 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19757165 19757166 rs189037413 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19757179 19757180 rs781619213 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19757197 19757198 rs139776882 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19757244 19757245 rs79189034 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 BGI, 0 735 chr21 19757253 19757254 rs143037517 0 + C C C/T genomic single by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 1 1000GENOMES, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 735 chr21 19757280 19757281 rs534579301 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19757290 19757291 rs552867582 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19757291 19757292 rs752778593 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19757320 19757321 rs577548472 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19757324 19757325 rs17699350 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 735 chr21 19757340 19757341 rs557164234 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19757375 19757376 rs144256357 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19757448 19757449 rs193143755 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19757489 19757490 rs554620868 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19757500 19757501 rs76939121 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4953.000000,55.000000, 0.989018,0.010982, 735 chr21 19757513 19757514 rs185230965 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19757557 19757558 rs190110617 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19757604 19757605 rs532903686 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19757679 19757680 rs2824791 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.141934 0.225437 intron exact 1 20 1000GENOMES,AFFY,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 385.000000,4623.000000, 0.076877,0.923123, maf-5-some-pop 735 chr21 19757680 19757681 rs868832955 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19757686 19757686 rs549162547 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 intron between 1 1 1000GENOMES, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19757687 19757688 rs749519107 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19757718 19757719 rs560701295 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19757746 19757747 rs181679372 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19757853 19757854 rs530478845 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19757872 19757873 rs74723633 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4953.000000,55.000000, 0.989018,0.010982, 735 chr21 19757877 19757878 rs567119791 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19757903 19757904 rs771149888 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19757904 19757905 rs528064197 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19757923 19757924 rs775072498 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19757931 19757932 rs546216309 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19757946 19757947 rs148707123 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 735 chr21 19757974 19757975 rs780020925 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758005 19758006 rs529742564 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19758034 19758035 rs768723434 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758078 19758079 rs76852127 0 + T T G/T genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 735 chr21 19758082 19758083 rs9979832 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WUGSC_SSAHASNP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19758115 19758116 rs776780346 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758117 19758118 rs551177101 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19758123 19758124 rs184031808 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19758129 19758130 rs151267775 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19758146 19758147 rs372047853 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19758152 19758153 rs748104528 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758206 19758207 rs573407546 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19758219 19758220 rs375405325 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19758259 19758260 rs540629324 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19758271 19758272 rs559034252 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19758304 19758305 rs769237845 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758324 19758325 rs534277501 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19758365 19758366 rs544895025 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19758432 19758433 rs772749619 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758438 19758439 rs776257137 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19758582 19758583 rs62214997 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.141934 0.225437 intron exact 1 15 1000GENOMES,BCMHGSC_JDW,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4623.000000,385.000000, 0.923123,0.076877, maf-5-some-pop 735 chr21 19758626 19758627 rs79496673 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 735 chr21 19758651 19758652 rs58929576 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047915 0.147179 intron exact 1 MixedObserved 9 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4885.000000,123.000000, 0.975439,0.024561, maf-5-some-pop 735 chr21 19758651 19758652 rs749075539 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 SSMP, 0 735 chr21 19758678 19758679 rs774708934 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758684 19758685 rs560626140 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19758702 19758703 rs528217068 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19758706 19758707 rs546176523 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19758727 19758728 rs563357666 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19758746 19758747 rs570916950 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19758785 19758786 rs188716904 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19758795 19758796 rs532250560 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19758802 19758803 rs759828872 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758820 19758821 rs767862862 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758883 19758884 rs753198653 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758898 19758899 rs756618682 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19758916 19758917 rs550872923 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19758942 19758943 rs111498616 0 + C C A/C genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19758967 19758968 rs568922528 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19758976 19758977 rs536431149 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759004 19759005 rs371298617 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19759007 19759008 rs180686573 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19759043 19759044 rs566962749 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759046 19759047 rs537009593 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 -,C, 30.000000,4978.000000, 0.005990,0.994010, 735 chr21 19759048 19759049 rs112397534 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759056 19759057 rs776812352 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19759072 19759073 rs558946116 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759115 19759116 rs577334840 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19759138 19759139 rs192217404 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19759164 19759165 rs182225489 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19759172 19759173 rs575061333 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759190 19759191 rs867462778 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19759198 19759199 rs542404352 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19759274 19759275 rs560353382 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759300 19759301 rs572560210 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19759318 19759319 rs539940520 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759333 19759334 rs764118170 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19759345 19759346 rs564511369 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759371 19759372 rs532148912 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759385 19759386 rs753911655 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19759439 19759440 rs550338699 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19759483 19759484 rs144449511 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19759522 19759523 rs2824792 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.121717 0.214577 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 326.000000,4682.000000, 0.065096,0.934904, maf-5-some-pop 735 chr21 19759539 19759540 rs548365012 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19759581 19759582 rs541752949 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19759630 19759631 rs187563532 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19759645 19759646 rs534259830 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19759670 19759671 rs759923144 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19759679 19759680 rs116282986 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 735 chr21 19759683 19759684 rs768018635 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19759716 19759717 rs369074933 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19759719 19759720 rs113266955 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759724 19759725 rs540725816 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19759729 19759730 rs373309323 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759775 19759776 rs2824793 0 + G G C/G genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 G, 418.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 735 chr21 19759779 19759780 rs556327592 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19759831 19759832 rs575065838 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19759845 19759846 rs535780642 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759892 19759893 rs2824794 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.356811 0.226034 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1164.000000,3844.000000, 0.232428,0.767572, maf-5-some-pop,maf-5-all-pops 735 chr21 19759913 19759915 rs369654215 0 + AC AC -/AC genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 735 chr21 19759922 19759923 rs57738423 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.177182 0.23916 intron exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA_GENOME_DK,GMI,HGSV,ILLUMINA,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 4516.000000,492.000000, 0.901757,0.098243, maf-5-some-pop 735 chr21 19759928 19759929 rs113925304 0 + T T C/T genomic single by-cluster 0.5 0 intron exact 1 3 BL,BUSHMAN,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19759929 19759943 rs200571799 0 + ACACACACACACAC ACACACACACACAC -/ACACACACACACAC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 735 chr21 19759929 19759939 rs201445287 0 + ACACACACAC ACACACACAC -/ACACACACAC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 BILGI_BIOE,GMI, 0 735 chr21 19759929 19759931 rs762190366 0 + AC AC -/AC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 SSMP, 0 735 chr21 19759931 19759941 rs779439637 0 + ACACACACAC ACACACACAC -/ACACACACAC genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 735 chr21 19759937 19759938 rs539904908 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19759940 19759941 rs866631601 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19759956 19759968 rs147930662 0 + CACACACACACG CACACACACACG -/CACACACACACG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 MixedObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 735 chr21 19759956 19759965 rs751589755 0 + CACACACAC CACACACAC -/CACACACAC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19759957 19759967 rs57708622 0 + ACACACACAC ACACACACAC -/ACACACACAC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 HGSV, 0 735 chr21 19759957 19759958 rs527965319 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 EVA-GONL,WEILL_CORNELL_DGM, 0 735 chr21 19759958 19759968 rs771554053 0 + CACACACACG CACACACACG -/CACACACACG genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19759958 19759967 rs781334698 0 + CACACACAC CACACACAC -/CACACACAC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19759959 19759960 rs111853732 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 BUSHMAN, 1 G, 1.000000, 1.000000, 735 chr21 19760003 19760004 rs564622671 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19760006 19760007 rs112635161 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19760062 19760063 rs548113538 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760068 19760069 rs781113186 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760092 19760093 rs544187258 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760094 19760095 rs2824795 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.439918 0.162576 intron exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1636.000000,3372.000000, 0.326677,0.673323, maf-5-some-pop,maf-5-all-pops 735 chr21 19760112 19760113 rs529954937 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760162 19760163 rs548526231 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19760173 19760174 rs560357750 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760174 19760175 rs769733181 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760179 19760180 rs374158745 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19760188 19760189 rs527468951 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19760248 19760249 rs772621703 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760249 19760250 rs552432418 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19760262 19760265 rs573372669 0 + ATG ATG -/ATG genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATG, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19760283 19760284 rs974400 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.439502 0.163061 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1633.000000,3375.000000, 0.326078,0.673922, maf-5-some-pop,maf-5-all-pops 735 chr21 19760287 19760288 rs531750691 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19760292 19760293 rs770572460 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760310 19760311 rs550105274 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760331 19760332 rs190351823 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19760344 19760345 rs28660362 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,SSAHASNP,TISHKOFF, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19760352 19760353 rs768940239 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19760391 19760392 rs554059181 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19760410 19760411 rs566065592 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760459 19760460 rs182908388 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760461 19760462 rs774057146 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760507 19760508 rs759175683 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760582 19760583 rs77489246 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4959.000000,49.000000, 0.990216,0.009784, 735 chr21 19760617 19760621 rs762213931 0 + AAAC AAAC -/AAAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760625 19760626 rs576832233 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760626 19760627 rs775889413 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760656 19760658 rs3082168 0 + TA TA -/TA genomic deletion unknown 0 0 intron range 1 1 TSC-CSHL, 0 735 chr21 19760657 19760659 rs5842687 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 ABI, 0 735 chr21 19760671 19760672 rs77266693 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 4 1000GENOMES,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19760686 19760687 rs556097761 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19760698 19760699 rs574367454 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760751 19760752 rs761114574 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760766 19760767 rs541882843 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760787 19760788 rs560461024 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19760788 19760789 rs527634176 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19760792 19760793 rs186830827 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19760827 19760828 rs764606435 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760829 19760830 rs564132775 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19760853 19760854 rs774521315 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19760866 19760867 rs144897622 0 + G G C/G genomic single by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 45.000000,4963.000000, 0.008986,0.991014, 735 chr21 19760880 19760881 rs550026157 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19760926 19760927 rs568407999 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19760957 19760958 rs868610926 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19760973 19760974 rs765398635 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19760978 19760979 rs77848448 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, maf-5-some-pop 735 chr21 19760990 19760991 rs190283844 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19761010 19761011 rs566029147 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761038 19761039 rs539754862 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19761050 19761051 rs149020581 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761060 19761061 rs143090487 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761062 19761063 rs757285101 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19761063 19761064 rs537913189 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761100 19761101 rs8130332 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.024064 0.107019 intron exact 1 9 1000GENOMES,AFFY,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4947.000000,61.000000, 0.987819,0.012180, maf-5-some-pop 735 chr21 19761101 19761102 rs574505840 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19761127 19761128 rs758663212 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761130 19761134 rs765654450 0 + TAAG TAAG -/TAAG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761136 19761137 rs369994210 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19761177 19761178 rs373607302 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19761250 19761251 rs182817441 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19761254 19761255 rs572327006 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19761284 19761285 rs546119585 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19761300 19761301 rs55965085 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.042201 0.138995 intron exact 1 8 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 108.000000,4900.000000, 0.021566,0.978435, maf-5-some-pop 735 chr21 19761303 19761304 rs556286577 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19761335 19761336 rs187720889 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19761401 19761405 rs758651850 0 + AGAA AGAA -/AGAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761405 19761405 rs769539677 0 + - - -/AGAA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761427 19761428 rs543636326 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19761432 19761436 rs780082650 0 + AGAA AGAA -/AGAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761453 19761454 rs193234275 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19761457 19761461 rs72289175 0 + GAAA GAAA -/GAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron range 1 2 1000GENOMES,LUNTER, 2 -,GAAA, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 735 chr21 19761460 19761461 rs79493206 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ILLUMINA-UK, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19761463 19761467 rs61453404 0 + AAGA AAGA -/AAGA genomic deletion by-cluster 0 0 intron range 1 2 HGSV,TISHKOFF, 0 735 chr21 19761464 19761468 rs199967244 0 + AGAC AGAC -/AGAC genomic deletion by-1000genomes 0 0 intron range 1 1 1000GENOMES, 0 735 chr21 19761484 19761488 rs528683585 0 + AAAG AAAG -/AAAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron range 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,AAAG, 25.000000,4983.000000, 0.004992,0.995008, 735 chr21 19761503 19761504 rs138562764 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19761526 19761527 rs201303423 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0.042965 0.14013 intron exact 1 2 1000GENOMES,LUNTER, 2 -,A, 110.000000,4898.000000, 0.021965,0.978035, 735 chr21 19761532 19761533 rs767468343 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19761533 19761534 rs547377068 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19761575 19761583 rs530149218 0 + AAGGAAGG AAGGAAGG -/AAGGAAGG genomic deletion by-cluster,by-frequency,by-1000genomes 0.004044 0.044787 intron range 1 MixedObserved 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AAGGAAGG, 10.000000,4925.000000, 0.002026,0.997974, 735 chr21 19761575 19761575 rs760735111 0 + - - -/AAGG genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 EVA_DECODE,EVA_GENOME_DK, 0 735 chr21 19761583 19761583 rs536967263 0 + - - -/AAGG genomic insertion by-cluster,by-frequency,by-1000genomes 0.028785 0.116464 intron between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AAGG, 4925.000000,73.000000, 0.985394,0.014606, 735 chr21 19761584 19761585 rs756017886 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761595 19761596 rs367930781 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19761602 19761603 rs777697975 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761603 19761604 rs559326134 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19761608 19761609 rs758148016 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19761614 19761615 rs140278480 0 + T T A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19761642 19761643 rs564718011 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19761644 19761645 rs749218254 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761652 19761653 rs570362850 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761692 19761693 rs537227660 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19761718 19761719 rs558315953 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761755 19761756 rs549603384 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761795 19761796 rs2824796 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.345482 0.231048 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3896.000000,1112.000000, 0.777955,0.222045, maf-5-some-pop,maf-5-all-pops 735 chr21 19761922 19761923 rs745556519 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761928 19761929 rs768413729 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19761950 19761951 rs535551772 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761956 19761957 rs535872747 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,A, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19761972 19761973 rs553752466 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19761973 19761974 rs572090733 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19761995 19761996 rs771669960 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19761999 19762000 rs775736491 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762037 19762038 rs145825519 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19762098 19762099 rs747632199 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19762103 19762104 rs557750567 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19762124 19762125 rs761036533 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762140 19762141 rs576312484 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19762143 19762144 rs777257552 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762146 19762147 rs547827623 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19762160 19762161 rs185455069 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762232 19762233 rs142014399 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4947.000000,61.000000, 0.987819,0.012180, 735 chr21 19762250 19762251 rs762390816 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762282 19762283 rs765449300 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762283 19762284 rs541149131 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762345 19762346 rs750491440 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762350 19762351 rs540966450 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19762359 19762360 rs2824797 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.189261 0.242509 intron exact 1 18 1000GENOMES,AFFY,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4478.000000,530.000000, 0.894169,0.105831, maf-5-some-pop 735 chr21 19762366 19762367 rs533142047 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762374 19762375 rs71319689 0 + C C A/C genomic single by-cluster,by-frequency 0.5 0 intron exact 1 2 ENSEMBL,HUMANGENOME_JCVI, 2 A,C, 2.000000,2.000000, 0.500000,0.500000, 735 chr21 19762383 19762384 rs551782890 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762407 19762408 rs4482570 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.411578 0.190768 intron exact 1 27 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3557.000000,1451.000000, 0.710264,0.289736, maf-5-some-pop,maf-5-all-pops 735 chr21 19762447 19762448 rs531280136 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19762450 19762451 rs549273613 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762462 19762463 rs772540415 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19762464 19762465 rs138734599 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19762486 19762487 rs535511267 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19762502 19762503 rs187956171 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19762535 19762536 rs752436542 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762575 19762576 rs371780917 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19762617 19762618 rs149342189 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19762664 19762665 rs533660067 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19762700 19762701 rs556066082 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19762739 19762740 rs543361756 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19762748 19762749 rs539040951 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762762 19762763 rs4578944 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 10 1000GENOMES,ABI,AFFY,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 105.000000,4903.000000, 0.020967,0.979034, maf-5-some-pop,genotype-conflict 735 chr21 19762786 19762787 rs144670234 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762789 19762790 rs57497758 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 3 1000GENOMES,HGSV,ILLUMINA-UK, 2 A,C, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19762832 19762833 rs756002935 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762833 19762834 rs750084 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.260504 0.249779 intron exact 1 16 1000GENOMES,AFFY,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,KRIBB_YJKIM,SC_SNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 771.000000,4237.000000, 0.153954,0.846046, maf-5-some-pop,genotype-conflict 735 chr21 19762855 19762856 rs573517127 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19762890 19762891 rs540862741 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19762891 19762892 rs559400417 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19762894 19762895 rs753821188 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19762942 19762943 rs532227761 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19763002 19763003 rs577764170 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763013 19763014 rs140010325 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19763036 19763037 rs743379 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.032211 0.122752 intron exact 1 10 1000GENOMES,ABI,AFFY,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,KRIBB_YJKIM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop 735 chr21 19763073 19763074 rs764310031 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19763108 19763109 rs565474474 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19763127 19763128 rs543324526 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763171 19763172 rs771631304 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19763172 19763173 rs527926996 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19763179 19763180 rs368541702 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19763199 19763200 rs147415947 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19763223 19763224 rs761902965 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19763226 19763227 rs743380 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 intron exact 1 4 1000GENOMES,ABI,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 4960.000000,48.000000, 0.990415,0.009585, 735 chr21 19763248 19763249 rs547242580 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763255 19763256 rs565777027 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763271 19763272 rs533088431 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763276 19763277 rs551049121 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763318 19763319 rs73325919 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 62.000000,4946.000000, 0.012380,0.987620, maf-5-some-pop 735 chr21 19763319 19763320 rs372722103 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763342 19763343 rs765329909 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19763402 19763403 rs184550821 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19763415 19763416 rs188669954 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763464 19763465 rs547682496 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763488 19763489 rs746631953 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19763494 19763495 rs181408755 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19763505 19763506 rs578005499 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763562 19763563 rs375957425 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19763617 19763618 rs545489540 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763643 19763644 rs73325920 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 intron exact 1 7 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 116.000000,4892.000000, 0.023163,0.976837, maf-5-some-pop 735 chr21 19763663 19763664 rs369133804 0 + A A A/C genomic single by-cluster 0 0 intron exact 1 2 JMKIDD_LAB,SSMP, 0 735 chr21 19763667 19763668 rs546938936 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19763682 19763683 rs530348468 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19763687 19763688 rs575607749 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763733 19763734 rs543076388 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763735 19763736 rs561541781 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763742 19763743 rs371557055 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19763747 19763748 rs762441820 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19763748 19763749 rs528839160 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763791 19763792 rs540818587 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763817 19763818 rs565487550 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19763853 19763854 rs2897386 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.114036 0.209795 intron exact 1 17 1000GENOMES,ABI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4704.000000,304.000000, 0.939297,0.060703, maf-5-some-pop 735 chr21 19763864 19763865 rs773441034 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19763871 19763872 rs113408529 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19763906 19763907 rs551470500 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19763918 19763919 rs139622146 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763960 19763961 rs530506168 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19763989 19763990 rs569750543 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19763998 19763999 rs779812139 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19764003 19764004 rs548616255 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19764008 19764009 rs567215990 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19764012 19764013 rs534615299 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19764013 19764014 rs766363988 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764016 19764017 rs369235212 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19764017 19764018 rs866548499 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19764033 19764034 rs571439322 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19764037 19764038 rs751865099 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764057 19764058 rs540681331 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19764073 19764074 rs538721984 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19764074 19764075 rs142694707 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19764086 19764087 rs759655585 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764123 19764124 rs538727093 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764141 19764142 rs575676030 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19764180 19764181 rs373646745 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 735 chr21 19764181 19764182 rs753586988 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764213 19764214 rs151002598 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 735 chr21 19764214 19764215 rs184364877 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19764237 19764238 rs567157784 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 735 chr21 19764238 19764239 rs189057088 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19764251 19764252 rs180969658 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19764267 19764268 rs577354156 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19764279 19764280 rs750358172 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 735 chr21 19764282 19764283 rs866810868 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19764321 19764322 rs187003159 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19764323 19764324 rs563394491 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19764426 19764427 rs140720090 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19764428 19764429 rs754738738 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19764431 19764432 rs149674912 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19764448 19764449 rs68017657 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.43221 0.171171 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3426.000000,1582.000000, 0.684105,0.315895, maf-5-some-pop,maf-5-all-pops 735 chr21 19764474 19764475 rs554473692 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19764502 19764503 rs67504159 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.435407 0.167703 intron exact 1 15 1000GENOMES,BCM-HGSC-SUB,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1604.000000,3404.000000, 0.320288,0.679712, maf-5-some-pop,maf-5-all-pops 735 chr21 19764563 19764564 rs190895313 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19764566 19764567 rs146658319 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19764567 19764568 rs754546786 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764607 19764608 rs371074607 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19764609 19764610 rs9983765 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 3 1000GENOMES,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 29.000000,4979.000000, 0.005791,0.994209, 735 chr21 19764620 19764621 rs145307701 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19764629 19764630 rs138417466 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19764676 19764677 rs543384355 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19764681 19764682 rs181546003 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19764715 19764716 rs757623888 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19764728 19764729 rs781707144 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764735 19764736 rs748467688 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764804 19764805 rs779315076 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19764805 19764806 rs554955303 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19764823 19764824 rs112049566 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 4 1000GENOMES,BUSHMAN,EVA_DECODE,JMKIDD_LAB, 2 A,G, 4974.000000,34.000000, 0.993211,0.006789, 735 chr21 19764835 19764836 rs777471760 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19764848 19764849 rs534220222 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19764868 19764869 rs372448494 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19764869 19764870 rs559182667 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19764889 19764890 rs770430744 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764906 19764907 rs186019750 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19764919 19764920 rs556971766 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19764928 19764929 rs2027612 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.384593 0.210677 intron exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3707.000000,1301.000000, 0.740216,0.259784, maf-5-some-pop,maf-5-all-pops 735 chr21 19764929 19764930 rs774263321 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764945 19764946 rs759830753 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19764958 19764959 rs574950355 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19765115 19765116 rs542338523 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19765137 19765138 rs67827139 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.449091 0.151204 intron exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3303.000000,1705.000000, 0.659545,0.340455, maf-5-some-pop,maf-5-all-pops 735 chr21 19765141 19765142 rs143403142 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19765196 19765197 rs761665550 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19765199 19765200 rs8135009 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.445196 0.1562 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1675.000000,3333.000000, 0.334465,0.665535, maf-5-some-pop,maf-5-all-pops 735 chr21 19765263 19765264 rs565179963 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19765283 19765284 rs112553152 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 735 chr21 19765311 19765312 rs550708854 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19765325 19765326 rs768923313 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19765341 19765342 rs375848907 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19765368 19765369 rs750413222 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19765372 19765373 rs535453081 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19765396 19765397 rs548686992 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19765416 19765417 rs114961159 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4962.000000,46.000000, 0.990815,0.009185, 735 chr21 19765417 19765418 rs141564463 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 735 chr21 19765425 19765426 rs147469745 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.019022 0.095932 intron exact 1 SingleClassTriAllelic 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,C,G, 35.000000,13.000000,4960.000000, 0.006989,0.002596,0.990415, 735 chr21 19765433 19765434 rs538161786 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19765465 19765466 rs750985572 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19765474 19765475 rs754674412 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19765540 19765541 rs8132226 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.435263 0.167862 intron exact 1 20 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1603.000000,3405.000000, 0.320088,0.679912, maf-5-some-pop,maf-5-all-pops 735 chr21 19765542 19765543 rs765280748 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19765594 19765595 rs747796731 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19765669 19765673 rs550236849 0 + AATA AATA -/AATA genomic deletion by-cluster 0 0 intron range 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19765696 19765697 rs563340227 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19765764 19765765 rs549374355 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19765767 19765768 rs542049464 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19765776 19765777 rs554218996 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19765887 19765888 rs2824798 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.440746 0.161604 intron exact 1 17 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3366.000000,1642.000000, 0.672125,0.327875, maf-5-some-pop,maf-5-all-pops 735 chr21 19765892 19765893 rs569512710 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19765942 19765943 rs540212489 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19765947 19765948 rs564735721 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19765959 19765960 rs73196458 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 735 chr21 19765960 19765961 rs143918193 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19766017 19766018 rs147259299 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19766056 19766057 rs529892375 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19766080 19766081 rs190048414 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19766081 19766082 rs183121671 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19766082 19766083 rs527794901 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19766092 19766093 rs59276426 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 735 chr21 19766096 19766097 rs186654048 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19766124 19766125 rs565791102 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19766227 19766228 rs556561535 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19766237 19766238 rs139158569 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19766274 19766275 rs568446359 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19766289 19766289 rs35449329 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19766299 19766300 rs190647401 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19766314 19766315 rs149921996 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.013904 0.082427 intron exact 1 SingleClassTriAllelic 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,G,T, 15.000000,4973.000000,20.000000, 0.002995,0.993011,0.003994, 735 chr21 19766318 19766319 rs557452141 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19766326 19766327 rs2824799 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.44858 0.151875 intron exact 1 23 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1701.000000,3307.000000, 0.339657,0.660343, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19766329 19766330 rs182897523 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19766337 19766338 rs774152132 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 735 chr21 19766344 19766345 rs144019737 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4978.000000,30.000000, 0.994010,0.005990, 735 chr21 19766365 19766366 rs2824800 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.449091 0.151204 intron exact 1 21 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1705.000000,3303.000000, 0.340455,0.659545, maf-5-some-pop,maf-5-all-pops 735 chr21 19766366 19766367 rs557341120 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19766384 19766384 rs367618901 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 LUNTER,SSMP, 0 735 chr21 19766406 19766407 rs2824801 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.130694 0.219696 intron exact 1 18 1000GENOMES,AFFY,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 352.000000,4656.000000, 0.070288,0.929712, maf-5-some-pop 735 chr21 19766412 19766413 rs765060190 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19766455 19766456 rs187711179 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19766470 19766471 rs755885624 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19766571 19766572 rs772955575 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19766572 19766573 rs762970266 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19766598 19766599 rs113711789 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19766600 19766601 rs527755357 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19766626 19766627 rs73325927 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 62.000000,4946.000000, 0.012380,0.987620, 735 chr21 19766634 19766635 rs866123580 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19766635 19766636 rs570956461 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19766660 19766661 rs766170644 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19766737 19766738 rs73325930 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4946.000000,62.000000, 0.987620,0.012380, maf-5-some-pop 735 chr21 19766800 19766801 rs148697426 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19766832 19766834 rs373272853 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 LUNTER, 0 735 chr21 19766849 19766850 rs199500260 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19766850 19766854 rs796866509 0 + TCTC TCTC -/TCTC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 PADH-LAB_SPU, 0 735 chr21 19766850 19766852 rs796959138 0 + TC TC -/TC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19766850 19766850 rs376776012 0 + - - -/TC genomic insertion by-cluster 0 0 intron between 1 2 LUNTER,SSMP, 0 735 chr21 19766851 19766851 rs199599399 0 + - - -/CT/TC genomic insertion unknown 0 0 intron between 1 1 GMI, 0 735 chr21 19766852 19766852 rs768473404 0 + - - -/TC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19766869 19766870 rs200606653 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 735 chr21 19766944 19766945 rs142217654 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19766970 19766971 rs113200859 0 + C C C/G genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,WEILL_CORNELL_DGM, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19766982 19766983 rs576667923 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19767012 19767015 rs771813699 0 + AAT AAT -/AAT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19767027 19767028 rs553902163 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767027 19767028 rs572644585 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 intron exact 1 MixedObserved 2 1000GENOMES,HAMMER_LAB, 2 -,A, 50.000000,4958.000000, 0.009984,0.990016, 735 chr21 19767035 19767036 rs371636275 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 TISHKOFF, 0 735 chr21 19767035 19767036 rs565955160 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19767038 19767039 rs533851321 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19767071 19767072 rs558353476 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767078 19767081 rs561593724 0 + AAA AAA -/AAA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AAA, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19767080 19767081 rs371683343 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19767081 19767084 rs376872916 0 + AAA AAA -/AAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 735 chr21 19767085 19767086 rs146677106 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19767112 19767113 rs751087536 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19767115 19767116 rs754514516 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19767157 19767158 rs192698329 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19767174 19767175 rs556204296 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767179 19767180 rs574737865 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767201 19767202 rs139046464 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19767228 19767229 rs144057083 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19767240 19767241 rs183013757 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19767276 19767277 rs187605232 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767288 19767289 rs546004032 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767362 19767363 rs564423073 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19767363 19767364 rs752445878 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19767374 19767375 rs568994263 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19767420 19767421 rs531875801 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19767459 19767460 rs549726441 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767640 19767644 rs774997814 0 + AGAC AGAC -/AGAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19767679 19767680 rs561751457 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19767685 19767686 rs375977218 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 735 chr21 19767713 19767714 rs146444526 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4988.000000,20.000000, 0.996006,0.003994, 735 chr21 19767714 19767715 rs748735847 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19767727 19767728 rs193174126 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19767811 19767812 rs73325931 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 62.000000,4946.000000, 0.012380,0.987620, maf-5-some-pop 735 chr21 19767813 19767814 rs566397900 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19767834 19767835 rs539641928 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19767848 19767849 rs778312976 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19767882 19767883 rs551990069 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19767900 19767901 rs570410764 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19767906 19767907 rs537941429 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768061 19768062 rs77872733 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 intron exact 1 10 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 69.000000,4939.000000, 0.013778,0.986222, maf-5-some-pop 735 chr21 19768099 19768100 rs184598965 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768100 19768101 rs189869698 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768121 19768122 rs140770521 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19768122 19768122 rs780560367 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768126 19768127 rs60181308 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,HGSV, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19768193 19768194 rs545673619 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768211 19768212 rs145812013 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19768224 19768225 rs541589193 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19768331 19768332 rs757792213 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768333 19768334 rs576414930 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768343 19768344 rs543533677 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768370 19768371 rs561515606 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19768382 19768383 rs192146253 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 735 chr21 19768384 19768385 rs868413998 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19768388 19768389 rs561714426 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768400 19768401 rs529235844 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768410 19768411 rs746379462 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768411 19768412 rs183791357 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768426 19768427 rs112749295 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.125874 0.217008 intron exact 1 13 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 338.000000,4670.000000, 0.067492,0.932508, maf-5-some-pop 735 chr21 19768438 19768439 rs533686884 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768527 19768528 rs189283031 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19768573 19768574 rs80068197 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 735 chr21 19768588 19768589 rs537904630 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768596 19768597 rs563591090 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768599 19768600 rs181994649 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768612 19768613 rs532673471 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768622 19768623 rs769031232 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19768641 19768642 rs776911182 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19768663 19768664 rs768817827 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768684 19768685 rs541747318 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19768686 19768687 rs535437933 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768746 19768747 rs564316625 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 735 chr21 19768755 19768756 rs773073563 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768768 19768769 rs13047487 0 + A A A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 A, 418.000000, 1.000000, 735 chr21 19768790 19768791 rs371979395 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19768801 19768802 rs762589822 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768835 19768836 rs868253086 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19768856 19768857 rs770069332 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19768865 19768866 rs553774162 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768872 19768873 rs565798137 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768906 19768907 rs552116439 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768909 19768910 rs13050741 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 735 chr21 19768934 19768935 rs559507101 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768945 19768946 rs576202471 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768950 19768951 rs533412582 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19768951 19768952 rs549962657 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19768958 19768959 rs573836592 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19768958 19768959 rs776068450 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19768959 19768960 rs540985507 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19768968 19768969 rs537975834 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19768998 19768999 rs12482824 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.180383 0.240111 intron exact 1 14 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 502.000000,4506.000000, 0.100240,0.899760, maf-5-some-pop 735 chr21 19769045 19769046 rs1970047 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.354019 0.227333 intron exact 1 20 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3857.000000,1151.000000, 0.770168,0.229832, maf-5-some-pop,maf-5-all-pops 735 chr21 19769049 19769050 rs545697862 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19769051 19769052 rs185786332 0 + G G C/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 0 735 chr21 19769060 19769061 rs536800451 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19769090 19769090 rs766409350 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 EVA_GENOME_DK, 0 735 chr21 19769108 19769108 rs547335576 0 + - - -/TCT genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 735 chr21 19769109 19769113 rs796799787 0 + TCTG TCTG -/TCTG genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 735 chr21 19769112 19769113 rs79915069 0 + G G A/G genomic single by-cluster 0.5 0 intron exact 1 2 ENSEMBL,WEILL_CORNELL_DGM, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19769116 19769117 rs74398329 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19769120 19769121 rs75353009 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 ENSEMBL,GMI,WEILL_CORNELL_DGM, 1 A, 2.000000, 1.000000, 735 chr21 19769121 19769121 rs67154609 0 + - - -/TCTA/TCTATCTA genomic insertion by-cluster 0.5 0 intron between 1 InconsistentAlleles 3 BILGI_BIOE,DDI,HUMANGENOME_JCVI, 2 -,TCTA, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19769124 19769125 rs3859710 0 + G G A/G genomic single by-cluster,by-2hit-2allele 0 0 intron exact 1 SingleAlleleFreq 12 ENSEMBL,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 1 A, 6.000000, 1.000000, 735 chr21 19769128 19769129 rs12483433 0 + A A A/G genomic single by-cluster,by-hapmap 0.375 0.216506 intron exact 1 6 COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 1.000000,3.000000, 0.250000,0.750000, 735 chr21 19769132 19769133 rs77789303 0 + A A A/G genomic single by-cluster,by-frequency 0.5 0 intron exact 1 3 ENSEMBL,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 735 chr21 19769145 19769145 rs71191403 0 + - - -/TCTA genomic insertion unknown 0 0 intron between 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 TCTA, 2.000000, 1.000000, 735 chr21 19769147 19769147 rs540669404 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.004383 0.04661 intron between 1 1 1000GENOMES, 2 -,T, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19769159 19769160 rs188831235 0 + T T A/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 A,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19769163 19769164 rs113344401 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.203882 0.245709 intron exact 1 5 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,T, 577.000000,4431.000000, 0.115216,0.884784, maf-5-some-pop,maf-5-all-pops 735 chr21 19769164 19769164 rs200141519 0 + - - -/ATC/ATCTATCC genomic insertion by-cluster 0 0 intron between 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 0 735 chr21 19769168 19769168 rs3082172 0 + - - -/ATCT genomic insertion unknown 0 0 intron between 1 1 TSC-CSHL, 0 735 chr21 19769204 19769205 rs549641947 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19769210 19769211 rs550805447 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19769423 19769424 rs34401752 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 ABI, 0 735 chr21 19769432 19769433 rs568155690 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19769474 19769475 rs767328003 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19769501 19769502 rs182042624 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19769505 19769506 rs867447035 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19769516 19769517 rs751804520 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19769565 19769566 rs369624219 0 + A A A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 0 735 chr21 19769574 19769575 rs186202642 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19769585 19769586 rs763777627 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19769616 19769617 rs2824802 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.437259 0.165632 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1617.000000,3391.000000, 0.322883,0.677117, maf-5-some-pop,maf-5-all-pops 735 chr21 19769649 19769650 rs115695241 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 735 chr21 19769679 19769680 rs552983109 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19769750 19769751 rs572784032 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19769755 19769756 rs558018483 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19769804 19769804 rs755973670 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 735 chr21 19769820 19769821 rs116205624 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19769861 19769862 rs536845656 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19769862 19769863 rs757626228 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19769873 19769874 rs191442837 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, 735 chr21 19769888 19769889 rs779316873 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19769911 19769912 rs139563764 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19769912 19769913 rs141856276 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19769936 19769937 rs530275924 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 735 chr21 19769988 19769989 rs758867005 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770030 19770031 rs719521 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.172997 0.237846 intron exact 1 18 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 479.000000,4529.000000, 0.095647,0.904353, maf-5-some-pop 735 chr21 19770031 19770032 rs747037573 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770039 19770040 rs577952594 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770116 19770117 rs2824803 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.437683 0.165152 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1620.000000,3388.000000, 0.323482,0.676518, maf-5-some-pop,maf-5-all-pops 735 chr21 19770128 19770129 rs564002031 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770129 19770130 rs531270168 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19770145 19770146 rs757735169 0 + A A -/A genomic deletion unknown 0.000053 0.005131 intron exact 1 DuplicateObserved 1 EVA_EXAC, 2 -,A, 1.000000,37982.000000, 0.000026,0.999974, 735 chr21 19770145 19770145 rs781403726 0 + - - -/A genomic insertion unknown 0.000053 0.005131 intron between 1 DuplicateObserved 1 EVA_EXAC, 2 -,A, 1.000000,37982.000000, 0.000026,0.999974, 735 chr21 19770146 19770147 rs767788200 0 + A A A/G genomic single unknown 0.000052 0.005099 intron exact 1 1 EVA_EXAC, 2 A,G, 38455.000000,1.000000, 0.999974,0.000026, 735 chr21 19770150 19770151 rs753182918 0 + A A A/G genomic single unknown 0.000052 0.005077 intron exact 1 1 EVA_EXAC, 2 A,G, 38797.000000,1.000000, 0.999974,0.000026, 735 chr21 19770151 19770152 rs756564002 0 + A A A/G genomic single by-frequency 0.00036 0.013417 intron exact 1 1 EVA_EXAC, 2 A,G, 38845.000000,7.000000, 0.999820,0.000180, 735 chr21 19770157 19770158 rs139111210 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00413 0.045257 intron exact 1 6 1000GENOMES,EVA_EXAC,JMKIDD_LAB,NHLBI-ESP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 44052.000000,96.000000, 0.997826,0.002175, 735 chr21 19770169 19770170 rs9974380 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009527 0.068358 intron exact 1 5 1000GENOMES,EVA_EXAC,JMKIDD_LAB,NHLBI-ESP,WUGSC_SSAHASNP, 2 A,G, 242.000000,45088.000000, 0.005339,0.994661, 735 chr21 19770174 19770175 rs757443262 0 + A A A/G genomic single unknown 0.000049 0.004939 intron exact 1 1 EVA_EXAC, 2 A,G, 40995.000000,1.000000, 0.999976,0.000024, 735 chr21 19770178 19770179 rs779224379 0 + T T G/T genomic single unknown 0.000048 0.004912 intron exact 1 1 EVA_EXAC, 2 G,T, 1.000000,41435.000000, 0.000024,0.999976, 735 chr21 19770185 19770186 rs781339388 0 + C C C/G genomic single by-frequency 0.000376 0.01371 intron exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 42516.000000,8.000000, 0.999812,0.000188, 735 chr21 19770188 19770189 rs771830295 0 + T T C/T genomic single unknown 0.000046 0.004793 intron exact 1 1 EVA_EXAC, 2 C,T, 1.000000,43515.000000, 0.000023,0.999977, 735 chr21 19770197 19770198 rs745923126 0 + A A -/A genomic deletion by-cluster 0.000044 0.004677 frameshift exact 1 2 EVA_EXAC,ILLUMINA, 2 -,A, 1.000000,45701.000000, 0.000022,0.999978, 735 chr21 19770211 19770213 rs769853972 0 + TT TT -/TT genomic deletion by-frequency 0.000082 0.006404 frameshift range 1 1 EVA_EXAC, 2 -,TT, 2.000000,48754.000000, 0.000041,0.999959, 735 chr21 19770215 19770216 rs779707268 0 + G G A/G genomic single by-frequency 0.00052 0.016117 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 13.000000,49969.000000, 0.000260,0.999740, 735 chr21 19770216 19770217 rs746882246 0 + T T C/T genomic single unknown 0.000017 0.002881 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120443.000000, 0.000008,0.999992, 735 chr21 19770217 19770218 rs141964857 0 + T T C/T genomic single by-cluster,by-frequency 0.000358 0.013375 missense exact 1 3 EVA-GONL,EVA_EXAC,EXOME_CHIP, 2 C,T, 9.000000,50257.000000, 0.000179,0.999821, 735 chr21 19770222 19770223 rs776593478 0 + T T C/T genomic single by-frequency 0.000079 0.006292 missense exact 1 1 EVA_EXAC, 2 C,T, 2.000000,50510.000000, 0.000040,0.999960, 735 chr21 19770242 19770243 rs528970360 0 + T T G/T genomic single by-1000genomes 0.00004 0.004478 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 2.000000,54872.000000, 0.000036,0.999964, 735 chr21 19770246 19770247 rs113160624 0 + A A A/G genomic single unknown 0.5 0 missense exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19770251 19770252 rs374412563 0 + G G G/T genomic single by-cluster 0.000041 0.004536 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 G,T, 48591.000000,1.000000, 0.999979,0.000021, 735 chr21 19770255 19770256 rs772795130 0 + T T G/T genomic single by-frequency 0.000084 0.006469 missense exact 1 1 EVA_EXAC, 2 G,T, 2.000000,47780.000000, 0.000042,0.999958, 735 chr21 19770256 19770257 rs762518947 0 + C C C/T genomic single unknown 0.000042 0.004591 missense exact 1 1 EVA_EXAC, 2 C,T, 47439.000000,1.000000, 0.999979,0.000021, 735 chr21 19770261 19770262 rs377542918 0 + A A A/G genomic single by-cluster,by-frequency 0.000173 0.009294 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 46284.000000,4.000000, 0.999914,0.000086, 735 chr21 19770264 19770265 rs752980129 0 + T T C/T genomic single unknown 0.000044 0.004676 splice-3 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,45721.000000, 0.000022,0.999978, 735 chr21 19770265 19770266 rs748390885 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770274 19770275 rs201633847 0 + T T C/T genomic single by-cluster 0.000721 0.018969 intron exact 1 3 CLINSEQ_SNP,EVA_EXAC,NHLBI-ESP, 2 C,T, 16.000000,44368.000000, 0.000360,0.999640, 735 chr21 19770282 19770286 rs780145847 0 + TGAA TGAA -/TGAA genomic deletion by-frequency 0.000047 0.00483 intron range 1 1 EVA_EXAC, 2 -,TGAA, 1.000000,42853.000000, 0.000023,0.999977, 735 chr21 19770289 19770290 rs764656632 0 + G G A/G/T genomic single by-frequency 0.000198 0.009958 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 EVA_EXAC, 2 A,G, 4.000000,40316.000000, 0.000099,0.999901, 735 chr21 19770290 19770291 rs547487147 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000203 0.010068 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,T, 6.000000,44444.000000, 0.000135,0.999865, 735 chr21 19770292 19770293 rs111894777 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000206 0.010147 intron exact 1 4 1000GENOMES,BUSHMAN,EVA_EXAC,WEILL_CORNELL_DGM, 2 C,T, 5.000000,43833.000000, 0.000114,0.999886, 735 chr21 19770312 19770313 rs750580774 0 + C C A/C genomic single by-frequency 0.000058 0.005407 intron exact 1 1 EVA_EXAC, 2 A,C, 1.000000,34195.000000, 0.000029,0.999971, 735 chr21 19770342 19770343 rs185480812 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19770367 19770368 rs190942604 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19770381 19770382 rs569573749 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19770433 19770434 rs536951064 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19770466 19770467 rs758538176 0 + A A A/G genomic single by-frequency 0.000033 0.004072 intron exact 1 1 EVA_EXAC, 2 A,G, 120580.000000,2.000000, 0.999983,0.000017, 735 chr21 19770469 19770470 rs374823641 0 + A A A/C genomic single by-cluster,by-frequency 0.000199 0.009973 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,C, 120574.000000,12.000000, 0.999900,0.000100, 735 chr21 19770475 19770476 rs746752658 0 + A A A/T genomic single by-frequency 0.000033 0.004072 intron exact 1 1 EVA_EXAC, 2 A,T, 120610.000000,2.000000, 0.999983,0.000017, 735 chr21 19770480 19770481 rs548738344 0 + G G A/G genomic single by-1000genomes 0.00005 0.004987 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 4.000000,125624.000000, 0.000032,0.999968, 735 chr21 19770482 19770483 rs781059382 0 + T T A/T genomic single unknown 0.000017 0.002879 intron exact 1 1 EVA_EXAC, 2 A,T, 1.000000,120629.000000, 0.000008,0.999992, 735 chr21 19770485 19770486 rs200328649 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000829 0.020337 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 125598.000000,52.000000, 0.999586,0.000414, 735 chr21 19770495 19770496 rs769228782 0 + A A A/G genomic single by-frequency 0.000133 0.008139 intron exact 1 1 EVA_EXAC, 2 A,G, 120714.000000,8.000000, 0.999934,0.000066, 735 chr21 19770497 19770498 rs772595252 0 + C C C/G genomic single unknown 0.000017 0.002878 intron exact 1 1 EVA_EXAC, 2 C,G, 120737.000000,1.000000, 0.999992,0.000008, 735 chr21 19770518 19770519 rs748877066 0 + T T C/T genomic single unknown 0.000017 0.002875 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120989.000000, 0.000008,0.999992, 735 chr21 19770527 19770528 rs770458203 0 + G G A/G genomic single unknown 0.000017 0.002874 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121083.000000, 0.000008,0.999992, 735 chr21 19770553 19770554 rs770678812 0 + C C C/G genomic single by-frequency 0.000033 0.004062 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 121206.000000,2.000000, 0.999983,0.000017, 735 chr21 19770555 19770556 rs760899449 0 + G G C/G genomic single unknown 0.000016 0.002872 nonsense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121211.000000, 0.000008,0.999992, 735 chr21 19770559 19770560 rs764562860 0 + G G A/G genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121223.000000, 0.000008,0.999992, 735 chr21 19770561 19770562 rs2824804 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.174403 0.238296 missense exact 1 27 1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_FINRISK,EVA_GENOME_DK,EVA_MGP,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 12201.000000,114019.000000, 0.096665,0.903335, maf-5-some-pop 735 chr21 19770562 19770563 rs138111932 0 + T T C/T genomic single by-cluster 0.000016 0.002872 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,121227.000000, 0.000008,0.999992, 735 chr21 19770576 19770577 rs149508033 0 + G G A/G genomic single by-cluster,by-1000genomes 0.00028 0.011837 missense exact 1 4 1000GENOMES,EVA_EXAC,NHLBI-ESP,TISHKOFF, 2 A,G, 18.000000,126236.000000, 0.000143,0.999857, 735 chr21 19770592 19770593 rs750449733 0 + C C C/T genomic single unknown 0.000016 0.002872 missense exact 1 1 EVA_EXAC, 2 C,T, 121235.000000,1.000000, 0.999992,0.000008, 735 chr21 19770593 19770594 rs372549174 0 + G G A/G genomic single by-cluster,by-frequency 0.000033 0.004061 coding-synon exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 2.000000,121234.000000, 0.000016,0.999983, 735 chr21 19770597 19770598 rs35987974 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005035 0.049922 missense exact 1 15 1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EVA_EXAC,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,EXOME_CHIP,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,NHLBI-ESP,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 125891.000000,357.000000, 0.997172,0.002828, 735 chr21 19770603 19770604 rs376916074 0 + T T A/T genomic single unknown 0.000154 0.008773 missense exact 1 1 NHLBI-ESP, 2 A,T, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19770610 19770611 rs751834268 0 + T T A/T genomic single by-frequency 0.000165 0.009081 missense exact 1 1 EVA_EXAC, 2 A,T, 10.000000,121194.000000, 0.000083,0.999918, 735 chr21 19770611 19770612 rs140378875 0 + C C C/T genomic single by-cluster 0.000033 0.004062 coding-synon exact 1 3 EVA_EXAC,JMKIDD_LAB,NHLBI-ESP, 2 C,T, 121192.000000,2.000000, 0.999983,0.000017, 735 chr21 19770612 19770613 rs199751836 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00005 0.004975 missense exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 A,G,T, 2.000000,121185.000000,1.000000, 0.000017,0.999975,0.000008, 735 chr21 19770613 19770614 rs756021079 0 + C C C/G genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,G, 121187.000000,1.000000, 0.999992,0.000008, 735 chr21 19770625 19770626 rs777804464 0 + G G C/G genomic single unknown 0.000017 0.002873 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121109.000000, 0.000008,0.999992, 735 chr21 19770627 19770628 rs748706392 0 + C C C/G/T genomic single by-frequency 0.00005 0.004977 missense exact 1 SingleClassTriAllelic 1 EVA_EXAC, 3 C,G,T, 121091.000000,1.000000,2.000000, 0.999975,0.000008,0.000017, 735 chr21 19770628 19770629 rs772082116 0 + T T G/T genomic single unknown 0 0 missense exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770634 19770635 rs773813443 0 + C C C/T genomic single unknown 0.000017 0.002875 missense exact 1 1 EVA_EXAC, 2 C,T, 120947.000000,1.000000, 0.999992,0.000008, 735 chr21 19770637 19770638 rs745517119 0 + G G C/G genomic single unknown 0.000017 0.002876 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,120893.000000, 0.000008,0.999992, 735 chr21 19770639 19770640 rs142737041 0 + G G A/G genomic single by-cluster 0.000154 0.008773 missense exact 1 2 JMKIDD_LAB,NHLBI-ESP, 2 A,G, 1.000000,13003.000000, 0.000077,0.999923, 735 chr21 19770643 19770644 rs771914509 0 + C C C/T genomic single unknown 0.000017 0.002879 missense exact 1 1 EVA_EXAC, 2 C,T, 120681.000000,1.000000, 0.999992,0.000008, 735 chr21 19770654 19770655 rs558123831 0 + A A A/G genomic single by-cluster,by-frequency 0.0001 0.007058 intron exact 1 2 EVA_EXAC,JMKIDD_LAB, 2 A,G, 120416.000000,6.000000, 0.999950,0.000050, 735 chr21 19770655 19770656 rs370254396 0 + T T C/T genomic single by-cluster 0.000017 0.002882 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 1.000000,120403.000000, 0.000008,0.999992, 735 chr21 19770658 19770659 rs765811230 0 + A A A/G genomic single unknown 0.000017 0.002882 intron exact 1 1 EVA_EXAC, 2 A,G, 120355.000000,1.000000, 0.999992,0.000008, 735 chr21 19770666 19770667 rs773803807 0 + A A A/C genomic single unknown 0.000017 0.002883 intron exact 1 1 EVA_EXAC, 2 A,C, 120267.000000,1.000000, 0.999992,0.000008, 735 chr21 19770672 19770673 rs762896983 0 + C C C/T genomic single by-frequency 0.000133 0.008157 intron exact 1 1 EVA_EXAC, 2 C,T, 120174.000000,8.000000, 0.999933,0.000067, 735 chr21 19770682 19770683 rs766494042 0 + G G A/G genomic single unknown 0.000017 0.002887 intron exact 1 1 EVA_EXAC, 2 A,G, 1.000000,119993.000000, 0.000008,0.999992, 735 chr21 19770715 19770716 rs530769018 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 -,T, 20.000000,4988.000000, 0.003994,0.996006, 735 chr21 19770716 19770717 rs368090160 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 TISHKOFF, 0 735 chr21 19770716 19770717 rs779413912 0 + T T C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 EVA_MGP, 0 735 chr21 19770720 19770721 rs144883321 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_MGP,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19770733 19770734 rs2824805 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.360842 0.224085 intron exact 1 16 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1183.000000,3825.000000, 0.236222,0.763778, maf-5-some-pop 735 chr21 19770738 19770739 rs575964971 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770807 19770808 rs543367045 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770821 19770822 rs187945484 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770824 19770825 rs760194913 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770830 19770831 rs747526349 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19770850 19770851 rs573370995 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770870 19770871 rs9975718 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037988 0.132479 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 97.000000,4911.000000, 0.019369,0.980631, maf-5-some-pop 735 chr21 19770871 19770872 rs559395878 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770880 19770881 rs781448318 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770933 19770934 rs753489204 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770936 19770937 rs546125191 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770962 19770963 rs148651098 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19770966 19770967 rs551309268 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19770972 19770973 rs765552353 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19770973 19770974 rs192816985 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19770975 19770976 rs867033063 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19770986 19770987 rs559691771 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19771003 19771003 rs35050572 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 735 chr21 19771027 19771028 rs530680751 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19771074 19771075 rs548849543 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19771083 19771084 rs750737395 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771120 19771121 rs758924370 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771122 19771123 rs567248827 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19771192 19771193 rs73893094 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19771205 19771206 rs766809505 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771249 19771250 rs2824806 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.334642 0.235236 intron exact 1 22 1000GENOMES,ABI,AFFY,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1064.000000,3944.000000, 0.212460,0.787540, maf-5-some-pop,maf-5-all-pops 735 chr21 19771266 19771267 rs142110452 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19771282 19771282 rs201501542 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 GMI, 0 735 chr21 19771302 19771303 rs558433864 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19771304 19771305 rs542211511 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771331 19771332 rs151303188 0 + G G A/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 1 1000GENOMES, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 735 chr21 19771354 19771355 rs867225634 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19771380 19771381 rs575726265 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19771392 19771393 rs748356759 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771426 19771427 rs756316274 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771448 19771449 rs77318020 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,T, 4949.000000,59.000000, 0.988219,0.011781, maf-5-some-pop 735 chr21 19771469 19771470 rs140525335 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19771482 19771483 rs573505818 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19771484 19771485 rs183692882 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19771490 19771491 rs778591652 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771491 19771492 rs147119282 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19771515 19771516 rs187964924 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19771530 19771531 rs544718598 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19771533 19771534 rs192990787 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19771539 19771540 rs183574102 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19771573 19771574 rs562001867 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19771589 19771590 rs73196465 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.24932 0.249999 intron exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 731.000000,4277.000000, 0.145966,0.854034, maf-5-some-pop 735 chr21 19771598 19771599 rs560837166 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19771671 19771672 rs73196468 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.240478 0.249819 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4308.000000,700.000000, 0.860224,0.139776, maf-5-some-pop 735 chr21 19771688 19771689 rs775634655 0 + G G C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771745 19771746 rs546730361 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19771747 19771748 rs746928630 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771840 19771841 rs188269247 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19771860 19771861 rs768093420 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771861 19771862 rs776168995 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771874 19771875 rs191370348 0 + C C A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA_DECODE, 0 735 chr21 19771878 19771879 rs759510063 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19771885 19771886 rs761394812 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19771911 19771912 rs9305865 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.019377 0.096505 intron exact 1 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,SC_SNP,TISHKOFF,WUGSC_SSAHASNP, 2 A,G, 4959.000000,49.000000, 0.990216,0.009784, 735 chr21 19771924 19771925 rs570688307 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19771963 19771964 rs142620230 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19772018 19772019 rs569404446 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19772040 19772041 rs184578260 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19772041 19772042 rs75001783 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020995 0.100671 intron exact 1 SingleClassTriAllelic 5 1000GENOMES,GMI,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 C,G,T, 4955.000000,33.000000,20.000000, 0.989417,0.006589,0.003994, 735 chr21 19772064 19772065 rs773575293 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772109 19772110 rs367636793 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19772111 19772112 rs534246000 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19772112 19772113 rs763379181 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772201 19772202 rs559073764 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19772243 19772244 rs146422067 0 + C C A/C/T genomic single by-1000genomes 0 0 intron exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772244 19772245 rs533249270 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772270 19772271 rs138720054 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19772308 19772309 rs149387714 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19772343 19772344 rs62214998 0 + A A A/G genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 4 BCMHGSC_JDW,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 1 G, 2.000000, 1.000000, 735 chr21 19772369 19772370 rs116299471 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4957.000000,51.000000, 0.989816,0.010184, 735 chr21 19772383 19772383 rs566459243 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 735 chr21 19772398 19772399 rs777572333 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19772419 19772420 rs756300262 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772456 19772457 rs11702128 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49263 0.060254 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2808.000000,2200.000000, 0.560703,0.439297, maf-5-some-pop,maf-5-all-pops 735 chr21 19772471 19772472 rs749515663 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772505 19772506 rs764010947 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19772531 19772532 rs758324714 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772555 19772556 rs542173379 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19772571 19772572 rs560721971 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19772584 19772585 rs143687678 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19772623 19772624 rs555350425 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19772626 19772627 rs565220660 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19772627 19772628 rs78868601 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 735 chr21 19772642 19772643 rs568822732 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19772643 19772644 rs190672830 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19772661 19772662 rs559119144 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19772683 19772684 rs766352890 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19772717 19772718 rs181490113 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19772727 19772732 rs776095505 0 + AGTAA AGTAA -/AGTAA genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 735 chr21 19772733 19772734 rs548574581 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19772740 19772741 rs528291973 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19772757 19772758 rs768591378 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772845 19772846 rs557525084 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 735 chr21 19772848 19772849 rs776018503 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772874 19772875 rs761419154 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19772875 19772876 rs74688324 0 - T T G/T genomic single by-cluster 0 0 intron exact 1 ObservedMismatch,SingleAlleleFreq 2 ENSEMBL,GMI, 1 G, 6.000000, 1.000000, observed-mismatch 735 chr21 19772876 19772877 rs747632235 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19772888 19772889 rs148252765 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19772895 19772896 rs185484922 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19772897 19772898 rs189541304 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19772939 19772940 rs113900151 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,BUSHMAN, 2 -,A, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19772971 19772972 rs207477759 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 735 chr21 19773003 19773004 rs762574528 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773018 19773019 rs766766971 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773024 19773025 rs181388423 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19773025 19773026 rs577455253 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19773055 19773056 rs376830178 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19773069 19773070 rs574944507 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773109 19773110 rs141709618 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19773114 19773115 rs554517862 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19773139 19773140 rs62214999 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19773191 19773192 rs540252309 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773204 19773205 rs866145769 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19773226 19773227 rs565031545 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19773231 19773232 rs752789160 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773274 19773275 rs577251350 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773335 19773336 rs139439015 0 + C C A/C genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,C, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19773350 19773351 rs562677202 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773351 19773352 rs781494681 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19773363 19773364 rs752724310 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773364 19773365 rs530182719 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19773370 19773371 rs368071952 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19773387 19773388 rs548376122 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773394 19773395 rs560663497 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773407 19773408 rs764254284 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773439 19773440 rs753230175 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19773440 19773441 rs142663765 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773468 19773469 rs754160742 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773517 19773518 rs757516546 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773537 19773538 rs372302905 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19773563 19773564 rs780018958 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773576 19773577 rs552579794 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773588 19773589 rs571013360 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773590 19773591 rs538150464 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19773622 19773623 rs139442454 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773644 19773645 rs553346409 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19773657 19773658 rs185779593 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773659 19773660 rs535688236 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773660 19773661 rs554349101 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773664 19773665 rs572943287 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773669 19773670 rs189705204 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19773692 19773693 rs180903933 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773698 19773699 rs577163640 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19773703 19773704 rs754876012 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773726 19773727 rs544532394 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773760 19773761 rs781261843 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773811 19773812 rs562804901 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773824 19773825 rs748025947 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773825 19773826 rs9984448 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 735 chr21 19773828 19773829 rs542053982 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19773837 19773838 rs144480109 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19773961 19773962 rs140096861 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19773981 19773982 rs769398825 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19773989 19773990 rs573493042 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 735 chr21 19773995 19773996 rs777237461 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19774014 19774015 rs552240536 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774028 19774029 rs145589938 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19774070 19774071 rs748967841 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19774152 19774153 rs531852406 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774152 19774152 rs34484160 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 735 chr21 19774197 19774198 rs530395172 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19774284 19774288 rs199779619 0 + TAAA TAAA -/TAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.17332 0.23795 intron range 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,TAAA, 480.000000,4528.000000, 0.095847,0.904153, maf-5-some-pop 735 chr21 19774287 19774291 rs375843044 0 + ATAA ATAA -/ATAA genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 735 chr21 19774294 19774295 rs568446456 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19774299 19774299 rs138692806 0 + - - -/AAAAAAAAAAAAAAAAAAAC genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 735 chr21 19774348 19774349 rs749493205 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19774368 19774369 rs868177902 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19774374 19774375 rs535670993 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774413 19774414 rs771122638 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19774431 19774432 rs2824807 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.35809 0.225425 intron exact 1 19 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1170.000000,3838.000000, 0.233626,0.766374, maf-5-some-pop 735 chr21 19774503 19774504 rs186285768 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19774554 19774555 rs533745590 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19774558 19774559 rs76375214 0 + C C C/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19774559 19774560 rs369872557 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19774566 19774567 rs774708656 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19774617 19774618 rs147713859 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19774647 19774648 rs576891330 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774676 19774677 rs373392413 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19774705 19774706 rs375282134 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774712 19774713 rs556493831 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 735 chr21 19774714 19774715 rs142667509 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19774715 19774716 rs369930217 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19774768 19774769 rs553932600 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19774777 19774778 rs572419541 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19774794 19774795 rs546291758 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19774808 19774809 rs745874099 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19774843 19774844 rs867964662 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19774844 19774844 rs376903237 0 + - - -/AA/AAA genomic insertion by-cluster 0 0 intron between 1 4 BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19774845 19774845 rs386394363 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 PJP, 0 735 chr21 19774860 19774860 rs386394364 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 735 chr21 19774862 19774863 rs56200573 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 HGSV, 0 735 chr21 19774862 19774862 rs60612261 0 + - - -/AA/AAA genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 AAA, 2.000000, 1.000000, 735 chr21 19774880 19774880 rs568712096 0 + - - -/AT genomic insertion unknown 0 0 intron between 1 1 SSIP, 0 735 chr21 19774934 19774935 rs564276911 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774956 19774957 rs531577872 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774963 19774964 rs543460904 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19774975 19774976 rs868373801 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19774995 19774996 rs562037268 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19775003 19775004 rs529600863 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19775010 19775011 rs144916730 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 735 chr21 19775090 19775091 rs73325936 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.181022 0.240296 intron exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4504.000000,504.000000, 0.899361,0.100639, maf-5-some-pop,maf-5-all-pops 735 chr21 19775100 19775101 rs776122153 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19775106 19775107 rs533394539 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19775132 19775133 rs372994194 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19775133 19775134 rs764307489 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19775153 19775154 rs114414418 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19775170 19775171 rs192499355 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19775174 19775175 rs151250245 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19775192 19775193 rs768547520 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19775219 19775220 rs2824808 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.495521 0.047112 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 2267.000000,2741.000000, 0.452676,0.547324, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19775262 19775263 rs372541632 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19775268 19775269 rs535761137 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19775280 19775281 rs143840063 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 intron exact 1 2 1000GENOMES,LUNTER, 2 -,T, 63.000000,4945.000000, 0.012580,0.987420, 735 chr21 19775301 19775302 rs112064293 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19775317 19775318 rs377115108 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 735 chr21 19775388 19775389 rs553648737 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,C, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19775414 19775415 rs183385301 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19775483 19775484 rs17002629 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, maf-5-some-pop 735 chr21 19775590 19775591 rs557829252 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19775609 19775610 rs370555763 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19775645 19775646 rs76632502 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19775660 19775661 rs561749598 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19775674 19775675 rs80093466 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.09701 0.197722 intron exact 1 16 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 256.000000,4752.000000, 0.051118,0.948882, maf-5-some-pop 735 chr21 19775703 19775704 rs7282891 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.027176 0.113356 intron exact 1 3 1000GENOMES,BCM_SSAHASNP,EVA_MGP, 2 A,C, 69.000000,4939.000000, 0.013778,0.986222, 735 chr21 19775751 19775752 rs750103725 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 735 chr21 19775753 19775754 rs372424312 0 + C C C/T genomic single by-cluster,by-frequency 0.000049 0.004971 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 C,T, 121389.000000,3.000000, 0.999975,0.000025, 735 chr21 19775765 19775766 rs200262978 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000016 0.00287 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 C,G, 126406.000000,2.000000, 0.999984,0.000016, 735 chr21 19775768 19775769 rs533568126 0 + T T G/T genomic single by-1000genomes 0.000016 0.00287 intron exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 2.000000,126406.000000, 0.000016,0.999984, 735 chr21 19775771 19775772 rs752455724 0 + C C C/T genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 C,T, 121399.000000,1.000000, 0.999992,0.000008, 735 chr21 19775772 19775773 rs553734400 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001449 0.026875 intron exact 1 3 1000GENOMES,EVA_EXAC,SSIP, 2 A,G, 93.000000,126317.000000, 0.000736,0.999264, 735 chr21 19775774 19775775 rs777519620 0 + G G G/T genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 G,T, 121401.000000,1.000000, 0.999992,0.000008, 735 chr21 19775775 19775776 rs780829759 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19775777 19775778 rs753823632 0 + A A A/C genomic single unknown 0.000016 0.00287 intron exact 1 1 EVA_EXAC, 2 A,C, 121399.000000,1.000000, 0.999992,0.000008, 735 chr21 19775780 19775789 rs749482726 0 + TCCATGTGA TCCATGTGA -/TCCATGTGA genomic deletion unknown 0.000016 0.00287 intron range 1 1 EVA_EXAC, 2 -,TCCATGTGA, 1.000000,121401.000000, 0.000008,0.999992, 735 chr21 19775785 19775786 rs375407443 0 + G G A/G genomic single by-cluster 0.000016 0.00287 intron exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 1.000000,121395.000000, 0.000008,0.999992, 735 chr21 19775796 19775797 rs778480098 0 + C C C/T genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 C,T, 121400.000000,2.000000, 0.999984,0.000016, 735 chr21 19775798 19775799 rs745427835 0 + T T C/T genomic single by-frequency 0.000033 0.004059 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 2.000000,121404.000000, 0.000016,0.999984, 735 chr21 19775807 19775808 rs771826553 0 + C C C/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 C,T, 121403.000000,1.000000, 0.999992,0.000008, 735 chr21 19775809 19775810 rs779894465 0 + T T G/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121405.000000, 0.000008,0.999992, 735 chr21 19775819 19775820 rs748484441 0 + G G G/T genomic single unknown 0.000016 0.00287 nonsense exact 1 1 EVA_EXAC, 2 G,T, 121401.000000,1.000000, 0.999992,0.000008, 735 chr21 19775829 19775830 rs770217605 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121401.000000, 0.000008,0.999992, 735 chr21 19775834 19775835 rs375249344 0 + T T C/T genomic single unknown 0.000154 0.008773 coding-synon exact 1 1 NHLBI-ESP, 2 C,T, 1.000000,13005.000000, 0.000077,0.999923, 735 chr21 19775836 19775837 rs570522035 0 + A A A/G/T genomic single by-1000genomes 0.000033 0.004059 coding-synon,missense exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_EXAC, 3 A,G,T, 126409.000000,1.000000,2.000000, 0.999976,0.000008,0.000016, 735 chr21 19775839 19775840 rs752722928 0 + C C C/T genomic single by-frequency 0.000033 0.004059 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 121400.000000,2.000000, 0.999984,0.000016, 735 chr21 19775841 19775842 rs376542211 0 + G G A/G genomic single by-cluster,by-frequency 0.000049 0.004971 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 3.000000,121395.000000, 0.000025,0.999975, 735 chr21 19775842 19775843 rs199630509 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000264 0.011476 missense exact 1 3 1000GENOMES,EVA_EXAC,ILLUMINA, 2 C,T, 126393.000000,17.000000, 0.999866,0.000134, 735 chr21 19775846 19775847 rs767684369 0 + G G A/G genomic single by-frequency 0.000033 0.004059 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 2.000000,121398.000000, 0.000016,0.999984, 735 chr21 19775854 19775855 rs752935954 0 + C C A/C genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121399.000000, 0.000008,0.999992, 735 chr21 19775867 19775868 rs188790942 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000165 0.009074 coding-synon exact 1 2 1000GENOMES,EVA_EXAC, 2 G,T, 126397.000000,11.000000, 0.999913,0.000087, 735 chr21 19775871 19775872 rs374380674 0 + G G A/G genomic single by-cluster,by-frequency 0.000033 0.004059 missense exact 1 2 EVA_EXAC,NHLBI-ESP, 2 A,G, 2.000000,121394.000000, 0.000016,0.999984, 735 chr21 19775877 19775878 rs753642659 0 + A A A/G genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 A,G, 121390.000000,2.000000, 0.999984,0.000016, 735 chr21 19775880 19775881 rs757204851 0 + A A A/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 A,T, 121393.000000,1.000000, 0.999992,0.000008, 735 chr21 19775881 19775882 rs778763470 0 + T T G/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 G,T, 1.000000,121391.000000, 0.000008,0.999992, 735 chr21 19775882 19775883 rs749923449 0 + G G G/T genomic single unknown 0.000016 0.00287 coding-synon exact 1 1 EVA_EXAC, 2 G,T, 121391.000000,1.000000, 0.999992,0.000008, 735 chr21 19775892 19775893 rs758015663 0 + G G C/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121387.000000, 0.000008,0.999992, 735 chr21 19775894 19775895 rs779804609 0 + G G A/G genomic single by-frequency 0.000231 0.010736 coding-synon exact 1 1 EVA_EXAC, 2 A,G, 14.000000,121374.000000, 0.000115,0.999885, 735 chr21 19775895 19775896 rs61735772 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001794 0.029899 missense exact 1 6 1000GENOMES,CORNELL,EVA_EXAC,EXOME_CHIP,ILLUMINA,NHLBI-ESP, 2 C,T, 126270.000000,124.000000, 0.999019,0.000981, 735 chr21 19775901 19775902 rs201924623 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000115 0.007593 missense exact 1 2 1000GENOMES,EVA_EXAC, 2 A,G, 8.000000,126388.000000, 0.000063,0.999937, 735 chr21 19775905 19775906 rs139413914 0 + G G A/G genomic single by-cluster,by-frequency 0.000148 0.008609 missense exact 1 3 CLINSEQ_SNP,EVA_EXAC,NHLBI-ESP, 2 A,G, 9.000000,121375.000000, 0.000074,0.999926, 735 chr21 19775908 19775909 rs749676271 0 + G G C/G genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,G, 1.000000,121385.000000, 0.000008,0.999992, 735 chr21 19775911 19775912 rs771449907 0 + T T A/T genomic single by-frequency 0.000033 0.004059 missense exact 1 1 EVA_EXAC, 2 A,T, 2.000000,121378.000000, 0.000016,0.999984, 735 chr21 19775916 19775917 rs774868000 0 + G G G/T genomic single by-cluster 0.000016 0.00287 missense exact 1 2 EVA_DECODE,EVA_EXAC, 2 G,T, 121377.000000,1.000000, 0.999992,0.000008, 735 chr21 19775918 19775919 rs759560120 0 + T T C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 1.000000,121375.000000, 0.000008,0.999992, 735 chr21 19775923 19775924 rs772148376 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121371.000000,1.000000, 0.999992,0.000008, 735 chr21 19775925 19775926 rs775618795 0 + C C C/T genomic single unknown 0.000016 0.00287 missense exact 1 1 EVA_EXAC, 2 C,T, 121371.000000,1.000000, 0.999992,0.000008, 735 chr21 19775930 19775931 rs756002643 0 + C C A/C/T genomic single by-frequency 0.000033 0.004059 coding-synon exact 1 SingleClassTriAllelic 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 3 A,C,T, 1.000000,121366.000000,1.000000, 0.000008,0.999984,0.000008, 735 chr21 19775931 19775932 rs777284564 0 + G G A/G genomic single unknown 0.000016 0.00287 missense exact 1 3 EVA_EXAC,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,121365.000000, 0.000008,0.999992, 735 chr21 19775933 19775934 rs772041124 0 + C C -/C genomic deletion unknown 0.000016 0.00287 frameshift exact 1 1 EVA_EXAC, 2 -,C, 1.000000,121361.000000, 0.000008,0.999992, 735 chr21 19775934 19775935 rs761551842 0 + C C A/C genomic single unknown 0.000016 0.002871 missense exact 1 1 EVA_EXAC, 2 A,C, 1.000000,121347.000000, 0.000008,0.999992, 735 chr21 19775944 19775945 rs765183632 0 + G G A/G genomic single unknown 0.000016 0.002871 untranslated-5 exact 1 1 EVA_EXAC, 2 A,G, 1.000000,121311.000000, 0.000008,0.999992, 735 chr21 19775950 19775951 rs750409730 0 + A A A/G genomic single unknown 0.000017 0.002872 untranslated-5 exact 1 1 EVA_EXAC, 2 A,G, 121201.000000,1.000000, 0.999992,0.000008, 735 chr21 19775953 19775954 rs757924116 0 + G G G/T genomic single unknown 0.000017 0.002872 untranslated-5 exact 1 1 EVA_EXAC, 2 G,T, 121189.000000,1.000000, 0.999992,0.000008, 735 chr21 19775975 19775976 rs765992555 0 + A A A/G genomic single by-frequency 0.000033 0.004069 near-gene-5 exact 1 1 EVA_EXAC, 2 A,G, 120782.000000,2.000000, 0.999983,0.000017, 735 chr21 19775981 19775982 rs751185121 0 + T T C/T genomic single unknown 0.000017 0.00288 near-gene-5 exact 1 1 EVA_EXAC, 2 C,T, 1.000000,120539.000000, 0.000008,0.999992, 735 chr21 19775983 19775984 rs748734623 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19775984 19775985 rs369180338 0 + A A A/G genomic single unknown 0.000154 0.008773 near-gene-5 exact 1 1 NHLBI-ESP, 2 A,G, 13005.000000,1.000000, 0.999923,0.000077, 735 chr21 19775991 19775992 rs369257149 0 + T T G/T genomic single unknown 0 0 near-gene-5 exact 1 1 TISHKOFF, 0 735 chr21 19776015 19776016 rs770570305 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776038 19776039 rs554014903 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19776059 19776060 rs565884316 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19776066 19776067 rs765909133 0 + C C A/C genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 735 chr21 19776072 19776074 rs760057336 0 + GT GT -/GT genomic deletion unknown 0 0 near-gene-5 range 1 1 SSMP, 0 735 chr21 19776080 19776081 rs150433674 0 + G G C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 near-gene-5 exact 1 2 1000GENOMES,GMI, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19776108 19776109 rs778694326 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776110 19776111 rs557543076 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19776127 19776128 rs576081566 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19776129 19776130 rs138237888 0 + C C C/T genomic single by-1000genomes 0 0 near-gene-5 exact 1 1 1000GENOMES, 0 735 chr21 19776133 19776134 rs537169982 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19776180 19776181 rs568537208 0 + A A A/G genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776189 19776190 rs753175279 0 + A A A/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 735 chr21 19776196 19776197 rs555309233 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19776250 19776251 rs544835754 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 near-gene-5 exact 1 1 1000GENOMES, 2 -,C, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19776266 19776267 rs141286990 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 near-gene-5 exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 735 chr21 19776292 19776293 rs541111778 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19776297 19776298 rs557479968 0 + T T G/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 735 chr21 19776329 19776330 rs559985129 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19776342 19776344 rs372626691 0 + TA TA -/TA genomic deletion unknown 0 0 near-gene-5 range 1 1 TISHKOFF, 0 735 chr21 19776343 19776347 rs200903091 0 + AGAG AGAG -/AGAG genomic deletion unknown 0 0 near-gene-5 range 1 1 GMI, 0 735 chr21 19776370 19776370 rs746684520 0 + - - -/CTA genomic insertion by-cluster 0 0 near-gene-5 between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776389 19776390 rs578194004 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19776445 19776446 rs76549942 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 near-gene-5 exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 G,T, 4992.000000,16.000000, 0.996805,0.003195, 735 chr21 19776469 19776470 rs761269332 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776501 19776502 rs769228521 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776504 19776505 rs776856429 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776527 19776529 rs776121865 0 + AA AA -/AA genomic deletion by-cluster 0 0 near-gene-5 range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776552 19776553 rs563890686 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19776571 19776572 rs531398546 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19776595 19776596 rs762051480 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776616 19776617 rs765398686 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776634 19776635 rs773536106 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776659 19776660 rs539605309 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19776664 19776665 rs767379158 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776677 19776678 rs79337136 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19776685 19776686 rs573899211 0 + A A A/C genomic single unknown 0 0 near-gene-5 exact 1 1 SSIP, 0 735 chr21 19776690 19776691 rs74626850 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 near-gene-5 exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 54.000000,4954.000000, 0.010783,0.989217, 735 chr21 19776742 19776743 rs73893095 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 near-gene-5 exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19776761 19776762 rs565928313 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19776775 19776776 rs187073974 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19776796 19776797 rs756055862 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776805 19776806 rs191125341 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 near-gene-5 exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19776865 19776866 rs542539177 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 735 chr21 19776866 19776867 rs114675825 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009539 0.068399 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19776875 19776876 rs753767786 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19776882 19776883 rs866275694 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19776888 19776889 rs555460228 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 735 chr21 19776948 19776949 rs746132173 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 1 EVA_DECODE, 0 735 chr21 19776949 19776950 rs80334783 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 near-gene-5 exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 735 chr21 19777101 19777102 rs138018112 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19777104 19777105 rs574090479 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19777130 19777131 rs778264625 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19777209 19777210 rs183638862 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19777214 19777215 rs142675566 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19777231 19777232 rs578242206 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19777279 19777282 rs112070114 0 + AGA AGA -/AGA genomic deletion by-cluster,by-1000genomes 0.5 0 near-gene-5 range 1 2 1000GENOMES,BUSHMAN, 2 -,AGA, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19777307 19777308 rs115695866 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 near-gene-5 exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 79.000000,4929.000000, 0.015775,0.984225, maf-5-some-pop 735 chr21 19777321 19777322 rs564003045 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19777369 19777370 rs144095659 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 near-gene-5 exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19777374 19777375 rs1034317 0 + A A A/C genomic single by-frequency,by-hapmap,by-1000genomes 0.005178 0.050619 near-gene-5 exact 1 3 1000GENOMES,ABI,TSC-CSHL, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19777376 19777377 rs561814366 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19777413 19777414 rs780482366 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19777448 19777449 rs528991318 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19777453 19777454 rs866561412 0 + G G G/T genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19777554 19777555 rs547325084 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19777582 19777583 rs60992918 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 near-gene-5 exact 1 6 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 63.000000,4945.000000, 0.012580,0.987420, maf-5-some-pop 735 chr21 19777605 19777606 rs747312926 0 + T T A/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19777606 19777607 rs141131325 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 near-gene-5 exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 735 chr21 19777607 19777608 rs865843882 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19777631 19777632 rs7282946 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 1 BCM_SSAHASNP, 0 735 chr21 19777689 19777690 rs79480345 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19777713 19777714 rs188772498 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19777730 19777731 rs770037100 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19777753 19777754 rs377697747 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 TISHKOFF, 0 735 chr21 19777756 19777757 rs376070961 0 + T T C/T genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 735 chr21 19777794 19777795 rs868789478 0 + G G A/G genomic single unknown 0 0 near-gene-5 exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19777805 19777806 rs540016784 0 + A A A/G genomic single by-cluster 0 0 near-gene-5 exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19777810 19777811 rs560314700 0 + G G C/G genomic single unknown 0 0 near-gene-5 exact 1 1 EVA-GONL, 0 735 chr21 19777821 19777822 rs193295618 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 near-gene-5 exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19777823 19777824 rs548914584 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19777881 19777882 rs377762865 0 + A A A/G genomic single unknown 0 0 near-gene-5 exact 1 1 SSMP, 0 735 chr21 19777883 19777884 rs766451893 0 + C C C/T genomic single unknown 0 0 near-gene-5 exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19777900 19777901 rs540585033 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.006766 0.057769 near-gene-5 exact 1 1 1000GENOMES, 2 -,A, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19777930 19777931 rs567704739 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19777944 19777945 rs534826278 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19777960 19777961 rs553294551 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-5 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19777986 19777987 rs549290738 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19777990 19777991 rs571651397 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19777991 19777992 rs542245646 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 735 chr21 19778044 19778045 rs778740106 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 735 chr21 19778046 19778047 rs763635760 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 735 chr21 19778050 19778051 rs539061942 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19778057 19778058 rs150714204 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19778087 19778088 rs760526965 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19778092 19778093 rs562144001 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19778093 19778094 rs768782587 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19778114 19778115 rs185113775 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19778121 19778122 rs543168958 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19778190 19778191 rs554870026 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19778198 19778199 rs12627551 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.45946 0.136478 unknown exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3217.000000,1791.000000, 0.642372,0.357628, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19778240 19778241 rs190123278 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 20.000000,4988.000000, 0.003994,0.996006, 735 chr21 19778241 19778242 rs753821324 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19778249 19778250 rs73196475 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,G, 42.000000,4966.000000, 0.008387,0.991613, 735 chr21 19778269 19778270 rs532746977 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19778300 19778301 rs764833566 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19778374 19778375 rs769654365 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19778384 19778385 rs749847120 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19778426 19778427 rs868023100 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19778477 19778478 rs544643385 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19778492 19778493 rs570977898 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19778516 19778517 rs181639426 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 735 chr21 19778524 19778524 rs35171189 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 735 chr21 19778558 19778559 rs183996285 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19778605 19778606 rs549133225 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19778630 19778631 rs567362106 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19778634 19778635 rs116854476 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19778654 19778655 rs746646917 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19778673 19778674 rs546753291 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19778703 19778704 rs188678496 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19778704 19778705 rs762711815 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19778717 19778718 rs539027282 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19778728 19778729 rs139585829 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19778729 19778730 rs867553929 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19778776 19778777 rs569528173 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19778798 19778799 rs536568473 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19778800 19778801 rs555111414 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19778864 19778865 rs145127746 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19778878 19778879 rs567088523 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19778890 19778891 rs147309729 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19778897 19778898 rs556143042 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19778917 19778918 rs552648954 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19778922 19778923 rs577326363 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19778948 19778949 rs748698800 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19778980 19778981 rs544557173 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19779020 19779021 rs140877692 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 46.000000,4962.000000, 0.009185,0.990815, 735 chr21 19779033 19779034 rs530795745 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19779074 19779075 rs576011773 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19779118 19779119 rs538201445 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19779129 19779130 rs542539762 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19779148 19779149 rs770153783 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779159 19779160 rs777919667 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779184 19779185 rs149852233 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19779196 19779197 rs528268808 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19779208 19779209 rs749256595 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779274 19779275 rs180867791 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19779294 19779295 rs771035008 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779321 19779322 rs774610572 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779431 19779432 rs558197181 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19779432 19779433 rs571730956 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19779453 19779454 rs759731745 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779454 19779455 rs186244185 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19779474 19779475 rs62215000 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.107341 0.205301 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4723.000000,285.000000, 0.943091,0.056909, maf-5-some-pop 735 chr21 19779484 19779485 rs569290503 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19779568 19779569 rs77122493 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 735 chr21 19779574 19779575 rs536685274 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19779579 19779581 rs759049035 0 + AC AC -/AC genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 735 chr21 19779583 19779587 rs545964270 0 + AGTT AGTT -/AGTT genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown range 1 1 1000GENOMES, 2 -,AGTT, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19779728 19779730 rs530615673 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown range 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TT, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19779736 19779737 rs754386941 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19779741 19779745 rs773590483 0 + CTTT CTTT -/CTTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779765 19779773 rs201740388 0 + TTTTTTTT TTTTTTTT -/TTTTTTTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.499203 0.019952 unknown range 1 3 1000GENOMES,GMI,SSMP, 2 -,TTTTTTTT, 2604.000000,2404.000000, 0.519968,0.480032, maf-5-some-pop,maf-5-all-pops 735 chr21 19779767 19779768 rs776368477 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779772 19779773 rs200054385 0 + T T C/T genomic single unknown 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 735 chr21 19779774 19779783 rs563049051 0 + TTTTTTTTT TTTTTTTTT -/TTTTTTTTT genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 735 chr21 19779799 19779800 rs145849009 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19779832 19779833 rs567201008 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19779876 19779877 rs534090601 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19779887 19779888 rs191910823 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 735 chr21 19779890 19779891 rs542665904 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19779918 19779919 rs765019490 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779925 19779926 rs577289543 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19779941 19779942 rs757518964 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19779952 19779952 rs59019091 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 735 chr21 19779966 19779967 rs750371598 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19779981 19779982 rs74399283 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.14933 0.228835 unknown exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 407.000000,4601.000000, 0.081270,0.918730, maf-5-some-pop 735 chr21 19779988 19779989 rs528238054 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19780039 19780040 rs545207503 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19780073 19780074 rs2824809 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.176861 0.239062 unknown exact 1 18 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 491.000000,4517.000000, 0.098043,0.901957, maf-5-some-pop 735 chr21 19780077 19780078 rs573829424 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780089 19780090 rs182492947 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19780111 19780112 rs149003327 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19780117 19780118 rs758749263 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19780132 19780133 rs142822856 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19780180 19780181 rs368043992 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 735 chr21 19780182 19780183 rs780275140 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19780194 19780195 rs754639377 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780209 19780210 rs112236772 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19780228 19780229 rs573103829 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19780233 19780234 rs187307882 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19780265 19780266 rs781709814 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780268 19780269 rs542464085 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780281 19780282 rs565101432 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19780325 19780326 rs532620394 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19780369 19780370 rs146545989 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 735 chr21 19780441 19780442 rs747020542 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19780450 19780451 rs563027504 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19780482 19780483 rs530039307 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19780496 19780497 rs116480607 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19780547 19780548 rs755124566 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19780569 19780570 rs141320345 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19780586 19780587 rs534528892 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19780598 19780599 rs552318741 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19780630 19780631 rs756646117 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780640 19780641 rs117683534 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 4957.000000,51.000000, 0.989816,0.010184, maf-5-some-pop 735 chr21 19780673 19780674 rs145034385 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19780697 19780698 rs778205755 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780725 19780730 rs763416690 0 + ATAAA ATAAA -/ATAAA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780745 19780746 rs749785238 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19780747 19780748 rs138029992 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 51.000000,4957.000000, 0.010184,0.989816, 735 chr21 19780750 19780751 rs562535103 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19780751 19780752 rs140981786 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA-GONL,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19780752 19780753 rs115374387 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 735 chr21 19780762 19780763 rs573028680 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19780770 19780771 rs550935092 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19780789 19780790 rs138666052 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 735 chr21 19780801 19780802 rs540549891 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19780882 19780883 rs565215958 0 + C C C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 735 chr21 19780886 19780887 rs368313166 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 735 chr21 19780926 19780927 rs780942140 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19780941 19780942 rs2824810 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.226484 0.248891 unknown exact 1 19 1000GENOMES,AFFY,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4356.000000,652.000000, 0.869808,0.130192, maf-5-some-pop 735 chr21 19780944 19780945 rs544467083 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19780954 19780955 rs75418776 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 735 chr21 19780992 19780993 rs530213371 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19781003 19781004 rs527380674 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19781036 19781037 rs547511758 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19781056 19781057 rs761582467 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19781064 19781065 rs769617832 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19781139 19781140 rs560548477 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19781148 19781149 rs200450908 0 - G G A/C genomic single by-cluster 0 0 unknown exact 1 1 ILLUMINA, 0 735 chr21 19781150 19781151 rs114658589 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 59.000000,4949.000000, 0.011781,0.988219, maf-5-some-pop 735 chr21 19781156 19781174 rs566362244 0 + AAAAATTTGGCTGGATAT AAAAATTTGGCTGGATAT -/AAAAATTTGGCTGGATAT genomic deletion by-frequency,by-1000genomes 0.004781 0.048658 unknown range 1 1 1000GENOMES, 2 -,AAAAATTTGGCTGGATAT, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19781203 19781204 rs566949167 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19781217 19781218 rs552431291 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19781246 19781247 rs762920814 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19781247 19781248 rs529719228 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19781256 19781257 rs773112431 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19781257 19781258 rs149317550 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 735 chr21 19781286 19781287 rs770639795 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19781299 19781300 rs7276893 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.236434 0.249632 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 686.000000,4322.000000, 0.136981,0.863019, maf-5-some-pop,genotype-conflict 735 chr21 19781317 19781318 rs73893096 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 735 chr21 19781351 19781352 rs182917440 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19781444 19781445 rs144465519 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19781457 19781458 rs767042490 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19781462 19781474 rs538559035 0 + TTTAATAGTGTG TTTAATAGTGTG -/TTTAATAGTGTG genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 735 chr21 19781466 19781467 rs554234491 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19781470 19781471 rs576203268 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19781474 19781474 rs560145095 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.000798 0.019964 unknown between 1 1 1000GENOMES, 2 -,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19781488 19781489 rs137897687 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4935.000000,73.000000, 0.985423,0.014577, maf-5-some-pop 735 chr21 19781495 19781496 rs558890005 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19781540 19781541 rs545165600 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,PADH-LAB_SPU,SSIP, 2 A,G, 4959.000000,49.000000, 0.990216,0.009784, maf-5-some-pop 735 chr21 19781583 19781584 rs544382950 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19781642 19781643 rs143533837 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19781706 19781707 rs868727837 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19781709 19781710 rs574802127 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19781716 19781717 rs558160206 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19781718 19781719 rs542291808 0 + T T A/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19781728 19781729 rs560407479 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19781767 19781768 rs186838438 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19781793 19781794 rs190304082 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,GMI, 0 735 chr21 19781808 19781809 rs545832431 0 + A A A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19781811 19781812 rs564396610 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19781878 19781879 rs776972359 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19781889 19781891 rs770334926 0 + TA TA -/TA genomic deletion unknown 0 0 unknown range 1 1 EVA_GENOME_DK, 0 735 chr21 19781890 19781891 rs2210231 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.358303 0.225323 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3837.000000,1171.000000, 0.766174,0.233826, maf-5-some-pop,maf-5-all-pops 735 chr21 19781904 19781905 rs147153739 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19781905 19781906 rs564982242 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 735 chr21 19781938 19781939 rs534022752 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19781950 19781951 rs754342219 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19781954 19781955 rs765504944 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19781967 19781968 rs140938926 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19781969 19781973 rs750864627 0 + TCTT TCTT -/TCTT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 735 chr21 19781976 19781977 rs758839245 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19781999 19782000 rs141541020 0 + G G C/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19782006 19782007 rs80242043 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.111928 0.208413 unknown exact 1 12 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 298.000000,4710.000000, 0.059505,0.940495, maf-5-some-pop 735 chr21 19782047 19782048 rs566620116 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19782066 19782067 rs182182495 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,C, 4988.000000,20.000000, 0.996006,0.003994, 735 chr21 19782076 19782077 rs865894285 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19782133 19782134 rs867950425 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19782195 19782196 rs868117961 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19782237 19782238 rs111250661 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19782263 19782264 rs9985143 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 3 1000GENOMES,TISHKOFF,WUGSC_SSAHASNP, 2 C,T, 4964.000000,44.000000, 0.991214,0.008786, 735 chr21 19782277 19782278 rs193062550 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19782280 19782281 rs751853742 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19782281 19782282 rs185543809 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 735 chr21 19782330 19782331 rs139435120 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, 735 chr21 19782331 19782332 rs76998359 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 3 1000GENOMES,ILLUMINA,TISHKOFF, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19782351 19782352 rs574062156 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19782422 19782423 rs372817482 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19782428 19782429 rs150060011 0 + A A A/G genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 735 chr21 19782433 19782434 rs199561678 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.425586 0.17796 unknown exact 1 DuplicateObserved 3 1000GENOMES,GMI,HAMMER_LAB, 2 -,T, 1538.000000,3470.000000, 0.307109,0.692891, maf-5-some-pop,maf-5-all-pops 735 chr21 19782433 19782433 rs368169255 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 BILGI_BIOE, 0 735 chr21 19782447 19782448 rs369305671 0 + G G G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 735 chr21 19782447 19782447 rs71191404 0 + - - -/T/TT genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 2 GMI,HUMANGENOME_JCVI, 1 TT, 2.000000, 1.000000, 735 chr21 19782449 19782450 rs542381365 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19782451 19782452 rs572216098 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19782474 19782475 rs545743854 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19782484 19782485 rs564162042 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19782510 19782511 rs755069582 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19782520 19782521 rs531852104 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19782576 19782577 rs9984755 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.163189 0.23526 unknown exact 1 SingleClassTriAllelic 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 C,G,T, 440.000000,4560.000000,8.000000, 0.087859,0.910543,0.001597, maf-5-some-pop,maf-5-all-pops 735 chr21 19782579 19782580 rs529490031 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19782597 19782598 rs547718666 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19782621 19782632 rs149092967 0 + TGGGATGCCAC TGGGATGCCAC -/TGGGATGCCAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.24134 0.24985 unknown range 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,TGGGATGCCAC, 703.000000,4305.000000, 0.140375,0.859625, maf-5-some-pop 735 chr21 19782628 19782629 rs758469852 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19782632 19782633 rs560251599 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19782634 19782645 rs369026038 0 + GGATGCCACTG GGATGCCACTG -/GGATGCCACTG genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 735 chr21 19782661 19782662 rs780315288 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19782678 19782679 rs527386905 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19782685 19782686 rs146550321 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_DECODE,GMI, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19782715 19782716 rs201289236 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 735 chr21 19782724 19782725 rs188804963 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19782733 19782733 rs531369736 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown between 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19782867 19782868 rs550043823 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19782915 19782916 rs34173013 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.342582 0.232225 unknown exact 1 MixedObserved 10 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,PJP,SSMP, 2 -,A, 1099.000000,3909.000000, 0.219449,0.780551, maf-5-some-pop 735 chr21 19782915 19782916 rs79501427 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 735 chr21 19782924 19782926 rs78018991 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 735 chr21 19782925 19782926 rs397731600 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 735 chr21 19782934 19782935 rs568304082 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19782971 19782971 rs367604051 0 + - - -/ATG genomic insertion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown between 1 2 1000GENOMES,LUNTER, 2 -,ATG, 4988.000000,20.000000, 0.996006,0.003994, 735 chr21 19782992 19782993 rs769518045 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783010 19783011 rs564528982 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19783041 19783042 rs773024301 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783057 19783058 rs111694350 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4975.000000,33.000000, 0.993411,0.006589, 735 chr21 19783062 19783063 rs553552469 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783114 19783115 rs572181265 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783125 19783126 rs191957086 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783132 19783133 rs371323223 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 735 chr21 19783134 19783135 rs749022608 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19783150 19783151 rs557865704 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783158 19783159 rs576006437 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19783173 19783174 rs543502456 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783180 19783181 rs184704440 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783201 19783202 rs574262909 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783218 19783219 rs143720863 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783236 19783237 rs188640498 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783251 19783252 rs533599710 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19783259 19783260 rs749209513 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783260 19783261 rs191890051 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783289 19783290 rs770937541 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783312 19783313 rs564212574 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783372 19783373 rs770731833 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19783435 19783436 rs531328337 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19783452 19783453 rs184220869 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783509 19783510 rs536260919 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19783526 19783527 rs540673170 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783530 19783531 rs568296939 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783547 19783548 rs146805841 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 735 chr21 19783553 19783554 rs547157200 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19783562 19783563 rs565523400 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19783577 19783578 rs116529311 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 unknown exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, maf-5-some-pop 735 chr21 19783578 19783579 rs767118700 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783583 19783584 rs557827069 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783661 19783662 rs775050933 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783664 19783665 rs760343388 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783666 19783667 rs148950413 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 48.000000,4960.000000, 0.009585,0.990415, 735 chr21 19783714 19783715 rs779855146 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783729 19783730 rs116105671 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 26.000000,4982.000000, 0.005192,0.994808, 735 chr21 19783738 19783739 rs143145370 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 735 chr21 19783743 19783744 rs2824811 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.494144 0.053796 unknown exact 1 23 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2775.000000,2233.000000, 0.554113,0.445887, maf-5-some-pop,maf-5-all-pops 735 chr21 19783762 19783763 rs866190944 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19783802 19783803 rs757716174 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783805 19783806 rs115663364 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 735 chr21 19783814 19783815 rs549570162 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783820 19783821 rs189348782 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783846 19783847 rs578213274 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19783861 19783862 rs545654641 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19783874 19783875 rs564129699 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19783891 19783892 rs8130195 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495056 0.049474 unknown exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2753.000000,2255.000000, 0.549720,0.450280, maf-5-some-pop,maf-5-all-pops 735 chr21 19783946 19783947 rs532025589 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19783977 19783978 rs758524759 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19783983 19783984 rs780077566 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784002 19784003 rs543375998 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19784005 19784006 rs779929048 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 DDI, 0 735 chr21 19784010 19784011 rs151193991 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4960.000000,48.000000, 0.990415,0.009585, 735 chr21 19784016 19784017 rs528918394 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19784049 19784050 rs180930419 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784053 19784054 rs73196483 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.255224 0.249945 unknown exact 1 15 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 752.000000,4256.000000, 0.150160,0.849840, maf-5-some-pop 735 chr21 19784088 19784089 rs565684724 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784090 19784091 rs532955364 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784094 19784095 rs187221035 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19784097 19784098 rs570087027 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784117 19784118 rs749048919 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784134 19784135 rs8132893 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.219049 0.248077 unknown exact 1 19 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 627.000000,4381.000000, 0.125200,0.874800, maf-5-some-pop 735 chr21 19784159 19784160 rs117544315 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 69.000000,4939.000000, 0.013778,0.986222, 735 chr21 19784193 19784198 rs111641778 0 + AACTC AACTC -/AACTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown range 1 4 1000GENOMES,BUSHMAN,LUNTER,TISHKOFF, 2 -,AACTC, 35.000000,4973.000000, 0.006989,0.993011, 735 chr21 19784197 19784198 rs553897211 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19784203 19784204 rs535062150 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784222 19784223 rs553690988 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784234 19784235 rs533518345 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19784247 19784248 rs545572461 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19784259 19784260 rs775023962 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784314 19784315 rs567723781 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19784391 19784392 rs763362683 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19784395 19784395 rs35895464 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 735 chr21 19784398 19784399 rs557292455 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784423 19784424 rs760265037 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784439 19784440 rs576052017 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 735 chr21 19784515 19784516 rs7283463 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.032211 0.122752 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop 735 chr21 19784518 19784519 rs189336060 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 1 1000GENOMES, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 735 chr21 19784596 19784597 rs528879339 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784601 19784602 rs776863945 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784605 19784606 rs762223988 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784628 19784629 rs765563545 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784678 19784679 rs540666248 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19784703 19784704 rs116129988 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19784724 19784725 rs2300514 0 - A A C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.375 0.216506 unknown exact 1 14 1000GENOMES,BCM-HGSC-SUB,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1252.000000,3756.000000, 0.250000,0.750000, maf-5-some-pop 735 chr21 19784726 19784727 rs551135296 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19784727 19784728 rs34172611 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.073738 0.17729 unknown exact 1 11 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4816.000000,192.000000, 0.961661,0.038339, maf-5-some-pop 735 chr21 19784728 19784729 rs140414726 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19784737 19784738 rs751601564 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784784 19784785 rs549204453 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19784787 19784788 rs532219184 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19784790 19784791 rs181553398 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 735 chr21 19784845 19784846 rs567785282 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19784860 19784861 rs2252042 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.465892 0.126058 unknown exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 1850.000000,3158.000000, 0.369409,0.630591, maf-5-some-pop,maf-5-all-pops 735 chr21 19784866 19784867 rs2300513 0 - A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.160938 0.233598 unknown exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,T, 442.000000,4566.000000, 0.088259,0.911741, maf-5-some-pop 735 chr21 19784889 19784890 rs571941047 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19784890 19784891 rs150365458 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,TISHKOFF, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19784948 19784949 rs557670716 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19784968 19784969 rs757165391 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19784979 19784980 rs778817478 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785014 19785015 rs186034217 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19785079 19785080 rs190052173 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19785081 19785082 rs555161885 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19785100 19785101 rs367580122 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WARNICH_LAB, 0 735 chr21 19785114 19785115 rs745830171 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785131 19785131 rs547980444 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 unknown between 1 1 1000GENOMES, 2 -,T, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19785132 19785133 rs772084263 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785139 19785140 rs137909530 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19785206 19785207 rs572260559 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19785208 19785209 rs558946752 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19785214 19785215 rs376630709 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 735 chr21 19785252 19785253 rs753802565 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19785284 19785285 rs143388879 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19785285 19785286 rs544880109 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19785332 19785333 rs563645304 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19785333 19785334 rs9982942 0 + G G A/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.473909 0.111197 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 19 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,CHURCH_CG54K,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3076.000000,1932.000000, 0.614217,0.385783, maf-5-some-pop,maf-5-all-pops 735 chr21 19785346 19785347 rs183387580 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 SingleClassTriAllelic 2 1000GENOMES,SSMP, 0 735 chr21 19785352 19785353 rs780810030 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785418 19785419 rs549168062 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19785419 19785420 rs560742338 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19785476 19785477 rs528619057 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19785514 19785518 rs150292598 0 + TCCC TCCC -/TCCC genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 2 1000GENOMES,LUNTER, 0 735 chr21 19785533 19785534 rs546980971 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19785551 19785553 rs796731467 0 + TC TC -/TC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785551 19785551 rs143903484 0 + - - -/TCTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.467132 0.12391 unknown between 1 MixedObserved 4 1000GENOMES,HAMMER_LAB,LUNTER,SSMP, 2 -,TCTC, 3146.000000,1862.000000, 0.628195,0.371805, maf-5-some-pop,maf-5-all-pops 735 chr21 19785552 19785552 rs72171532 0 + - - -/CTCT/TC genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 735 chr21 19785553 19785553 rs761165879 0 + - - -/TCTC genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785560 19785561 rs9975274 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 GMI,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 0 735 chr21 19785573 19785574 rs571651729 0 + T T C/T genomic single by-frequency,by-1000genomes 0.15698 0.23205 unknown exact 1 1 1000GENOMES, 2 C,T, 430.000000,4578.000000, 0.085863,0.914137, maf-5-some-pop 735 chr21 19785588 19785589 rs112283374 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 735 chr21 19785589 19785590 rs112982431 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 735 chr21 19785590 19785591 rs112661475 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 735 chr21 19785608 19785609 rs867515902 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19785609 19785611 rs796868019 0 + TT TT -/TT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785610 19785610 rs142461482 0 + - - -/TTTTC genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 4 1000GENOMES,HAMMER_LAB,LUNTER,SSMP, 0 735 chr21 19785611 19785611 rs772956165 0 + - - -/TTTTT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785623 19785628 rs144127412 0 + TTTCT TTTCT -/TTTCT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 MixedObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 735 chr21 19785623 19785626 rs765747998 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785624 19785637 rs796164167 0 + TTCTTTTCCTTCC TTCTTTTCCTTCC -/TTCTTTTCCTTCC genomic deletion unknown 0 0 unknown range 1 1 HAMMER_LAB, 0 735 chr21 19785628 19785629 rs866307192 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19785629 19785629 rs749971208 0 + - - -/TCC/TTCCTTCCTTCC genomic insertion by-cluster 0 0 unknown between 1 2 EVA_GENOME_DK,SSMP, 0 735 chr21 19785632 19785633 rs112286382 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 2 BCM-HGSC-SUB,WEILL_CORNELL_DGM, 0 735 chr21 19785632 19785637 rs796780757 0 + CTTCC CTTCC CTTCC/T genomic in-del unknown 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 735 chr21 19785636 19785637 rs867692148 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19785661 19785661 rs759963591 0 + - - -/T/TTCG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785675 19785676 rs866567123 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19785677 19785678 rs373084745 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 SSIP,SSMP, 0 735 chr21 19785677 19785678 rs866870679 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 735 chr21 19785679 19785680 rs868744307 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 735 chr21 19785679 19785679 rs71191405 0 + - - -/CCTT genomic insertion unknown 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 CCTT, 2.000000, 1.000000, 735 chr21 19785681 19785682 rs866208816 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19785689 19785690 rs529772095 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19785690 19785691 rs186398326 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19785696 19785697 rs866903919 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19785700 19785704 rs760855450 0 + TCTA TCTA -/TCTA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19785803 19785804 rs550989910 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19785804 19785805 rs569574554 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19785822 19785823 rs536405904 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19785858 19785859 rs373681942 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 735 chr21 19785877 19785878 rs113414424 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.289165 0.246913 unknown exact 1 14 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4130.000000,878.000000, 0.824681,0.175319, maf-5-some-pop,maf-5-all-pops 735 chr21 19785881 19785882 rs573376830 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19785882 19785883 rs60096676 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 735 chr21 19785901 19785903 rs141469767 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.427119 0.176434 unknown range 1 3 1000GENOMES,BL,SSMP, 2 -,TT, 1548.000000,3460.000000, 0.309105,0.690895, maf-5-some-pop,maf-5-all-pops 735 chr21 19785917 19785918 rs552687654 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 735 chr21 19785918 19785919 rs370456056 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 735 chr21 19785953 19785954 rs577213374 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19786034 19786035 rs545027809 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 735 chr21 19786035 19786036 rs148550232 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19786042 19786043 rs763466838 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19786096 19786097 rs751918894 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 735 chr21 19786102 19786103 rs563393244 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19786117 19786118 rs753671452 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19786119 19786120 rs139769876 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 unknown exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 735 chr21 19786145 19786146 rs117137051 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 735 chr21 19786160 19786161 rs766153565 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19786188 19786189 rs868181974 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19786189 19786190 rs116442847 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19786193 19786194 rs547193254 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 735 chr21 19786210 19786211 rs528327587 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19786246 19786247 rs79918154 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4977.000000,31.000000, 0.993810,0.006190, maf-5-some-pop 735 chr21 19786259 19786260 rs565427137 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19786265 19786266 rs146145599 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 735 chr21 19786284 19786288 rs370920983 0 + CTTA CTTA -/CTTA genomic deletion unknown 0 0 unknown range 1 1 LUNTER, 0 735 chr21 19786294 19786295 rs140033581 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19786383 19786384 rs868229741 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19786392 19786393 rs199728695 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19786412 19786413 rs569405780 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19786431 19786432 rs767469188 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19786437 19786438 rs536976815 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19786501 19786502 rs548462163 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19786506 19786507 rs552015512 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.012721 0.07873 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 32.000000,4967.000000, 0.006401,0.993599, 735 chr21 19786507 19786507 rs576016334 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.003611 0.042336 unknown between 1 1 1000GENOMES, 2 -,T, 4967.000000,9.000000, 0.998191,0.001809, 735 chr21 19786550 19786551 rs566710556 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19786554 19786555 rs753005898 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19786558 19786559 rs143625229 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19786614 19786615 rs773815135 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19786661 19786665 rs535487897 0 + GTGA GTGA -/GTGA genomic deletion by-frequency,by-1000genomes 0.000798 0.019964 unknown range 1 MixedObserved 1 1000GENOMES, 2 -,GTGA, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19786661 19786662 rs867250524 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 735 chr21 19786670 19786671 rs376869171 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19786672 19786673 rs577324420 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19786685 19786686 rs538207173 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19786686 19786687 rs115906706 0 + C C C/T genomic single by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4962.000000,46.000000, 0.990815,0.009185, 735 chr21 19786750 19786751 rs575413763 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19786760 19786761 rs190863494 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19786810 19786811 rs12482141 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.3744 0.216852 unknown exact 1 17 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3759.000000,1249.000000, 0.750599,0.249401, maf-5-some-pop 735 chr21 19786811 19786812 rs573072268 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19786871 19786872 rs371925310 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 735 chr21 19786875 19786876 rs375110305 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 735 chr21 19786889 19786890 rs76940352 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 735 chr21 19786897 19786898 rs7276258 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.161267 0.233723 unknown exact 1 21 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4565.000000,443.000000, 0.911542,0.088459, maf-5-some-pop 735 chr21 19786915 19786916 rs532642415 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19786925 19786926 rs544254842 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19786941 19786942 rs75947323 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.046775 0.145601 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 120.000000,4888.000000, 0.023962,0.976038, maf-5-some-pop 735 chr21 19786964 19786965 rs8127683 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.330016 0.236849 unknown exact 1 23 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 3964.000000,1044.000000, 0.791534,0.208466, maf-5-some-pop,genotype-conflict 735 chr21 19786981 19786982 rs548453676 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19787043 19787044 rs146780033 0 + A A A/G genomic single by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4962.000000,46.000000, 0.990815,0.009185, 735 chr21 19787049 19787050 rs747822450 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19787087 19787088 rs769382125 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19787111 19787112 rs527837853 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19787159 19787160 rs370669531 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 735 chr21 19787163 19787164 rs377115645 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 735 chr21 19787175 19787176 rs773573364 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19787185 19787186 rs552353586 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19787246 19787247 rs570979928 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19787247 19787248 rs763379357 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19787250 19787251 rs369673749 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 735 chr21 19787251 19787252 rs556285493 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19787260 19787261 rs767716008 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19787278 19787279 rs569818323 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19787288 19787289 rs182576493 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19787323 19787324 rs568812047 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19787335 19787336 rs535914326 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19787342 19787343 rs774966936 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19787342 19787342 rs202167742 0 + - - -/T genomic insertion by-1000genomes 0 0 unknown between 1 MixedObserved 1 1000GENOMES, 0 735 chr21 19787343 19787344 rs8130666 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.220843 0.248294 unknown exact 1 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 4375.000000,633.000000, 0.873602,0.126398, maf-5-some-pop 735 chr21 19787343 19787344 rs373762077 0 + G G G/TT genomic in-del unknown 0 0 unknown rangeInsertion 1 FlankMismatchGenomeLonger 1 TISHKOFF, 0 735 chr21 19787344 19787344 rs200372734 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 2 1000GENOMES,EVA-GONL, 0 735 chr21 19787401 19787402 rs189031426 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19787402 19787403 rs377573302 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 735 chr21 19787431 19787432 rs139329643 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19787452 19787453 rs558812057 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19787490 19787491 rs577233956 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19787590 19787591 rs192658746 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19787591 19787592 rs560588916 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 735 chr21 19787615 19787616 rs150006487 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19787625 19787626 rs530094894 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19787638 19787639 rs370064667 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19787642 19787643 rs182979531 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 735 chr21 19787657 19787658 rs111289820 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19787685 19787686 rs552317058 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19787723 19787724 rs373100372 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19787724 19787725 rs192243492 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 735 chr21 19787725 19787726 rs8132638 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.480382 0.097079 unknown exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3000.000000,2008.000000, 0.599042,0.400958, maf-5-some-pop,maf-5-all-pops 735 chr21 19787788 19787789 rs550647742 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19787832 19787838 rs543538195 0 + TTTGAT TTTGAT -/TTTGAT genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 735 chr21 19787842 19787843 rs73893097 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,G, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19787850 19787851 rs766057409 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19787853 19787854 rs9981977 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.474903 0.109173 unknown exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3065.000000,1943.000000, 0.612021,0.387979, maf-5-some-pop,maf-5-all-pops 735 chr21 19787871 19787872 rs77891072 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 28.000000,4980.000000, 0.005591,0.994409, 735 chr21 19787898 19787899 rs780697442 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19787901 19787902 rs529626198 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 735 chr21 19787935 19787936 rs116314265 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 735 chr21 19787945 19787946 rs145570118 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19787989 19787990 rs189614269 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 735 chr21 19787997 19787998 rs9982098 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.474903 0.109173 unknown exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3065.000000,1943.000000, 0.612021,0.387979, maf-5-some-pop,maf-5-all-pops 735 chr21 19788015 19788016 rs2225408 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.468249 0.121932 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1873.000000,3135.000000, 0.374002,0.625998, maf-5-some-pop,maf-5-all-pops,microattr-tpa 735 chr21 19788025 19788026 rs537698379 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788028 19788029 rs556576780 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19788047 19788048 rs777463997 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19788048 19788049 rs76339361 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4949.000000,59.000000, 0.988219,0.011781, maf-5-some-pop 735 chr21 19788054 19788055 rs148863979 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 735 chr21 19788067 19788068 rs78465810 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 4 1000GENOMES,BGI,GMI,SSMP, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 735 chr21 19788080 19788081 rs572140666 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788109 19788110 rs546065618 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788143 19788144 rs527972214 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19788177 19788178 rs147015414 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 735 chr21 19788189 19788190 rs547817185 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19788191 19788192 rs550116699 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19788208 19788209 rs562557623 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19788219 19788220 rs192529459 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 735 chr21 19788264 19788265 rs548177033 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19788266 19788267 rs774537830 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19788269 19788270 rs12373916 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_SNP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788270 19788271 rs147650745 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 735 chr21 19788278 19788279 rs76175003 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.071153 0.174681 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4823.000000,185.000000, 0.963059,0.036941, maf-5-some-pop 735 chr21 19788285 19788286 rs867019893 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19788288 19788289 rs374574059 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 735 chr21 19788316 19788317 rs368845074 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 735 chr21 19788344 19788345 rs549772120 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19788351 19788352 rs569780584 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19788357 19788358 rs538768587 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19788401 19788402 rs4816768 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.476918 0.104919 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3042.000000,1966.000000, 0.607428,0.392572, maf-5-some-pop,maf-5-all-pops 735 chr21 19788407 19788408 rs184539022 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19788412 19788418 rs555429689 0 + ATACTT ATACTT -/ATACTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATACTT, 16.000000,4992.000000, 0.003195,0.996805, 735 chr21 19788419 19788420 rs777034392 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19788422 19788423 rs780778380 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 DDI, 0 735 chr21 19788424 19788425 rs4816769 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.474992 0.108989 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3064.000000,1944.000000, 0.611821,0.388179, maf-5-some-pop,maf-5-all-pops 735 chr21 19788440 19788441 rs189296932 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788448 19788449 rs28611347 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 54.000000,4954.000000, 0.010783,0.989217, 735 chr21 19788475 19788475 rs201921896 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 735 chr21 19788499 19788500 rs545832456 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19788504 19788505 rs111334449 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19788561 19788562 rs145815773 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19788562 19788563 rs534907432 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19788568 19788569 rs543969546 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788570 19788571 rs562161099 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19788592 19788593 rs148191292 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19788650 19788651 rs181998022 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19788661 19788662 rs754951348 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19788668 19788669 rs560339531 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788685 19788686 rs527272026 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19788728 19788729 rs551886906 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 735 chr21 19788730 19788731 rs34364227 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 735 chr21 19788813 19788814 rs141210796 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 735 chr21 19788834 19788835 rs866524467 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19788930 19788931 rs150311926 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19788975 19788976 rs752621516 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19788986 19788987 rs2824812 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.475081 0.108804 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3063.000000,1945.000000, 0.611621,0.388379, maf-5-some-pop,maf-5-all-pops,genotype-conflict 735 chr21 19788991 19788992 rs567890839 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19788996 19788997 rs567553124 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19789014 19789015 rs2824813 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.474903 0.109173 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3065.000000,1943.000000, 0.612021,0.387979, maf-5-some-pop,maf-5-all-pops 735 chr21 19789021 19789022 rs553839317 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19789059 19789063 rs371322257 0 + CTTT CTTT -/CTTT genomic deletion unknown 0 0 unknown range 1 1 LUNTER, 0 735 chr21 19789102 19789103 rs138285258 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19789106 19789107 rs149606290 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19789116 19789117 rs2824814 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.474903 0.109173 unknown exact 1 34 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3065.000000,1943.000000, 0.612021,0.387979, maf-5-some-pop,maf-5-all-pops,microattr-tpa,genotype-conflict 735 chr21 19789134 19789135 rs576643089 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19789150 19789151 rs756807134 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789151 19789152 rs543744463 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19789157 19789158 rs779347536 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789191 19789192 rs185789401 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789192 19789193 rs772479849 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789209 19789210 rs188837123 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789227 19789228 rs776195470 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789249 19789250 rs369587255 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789283 19789284 rs560240115 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789301 19789302 rs73893098 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 735 chr21 19789337 19789338 rs545747088 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19789342 19789343 rs768889053 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789356 19789357 rs146117317 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 735 chr21 19789368 19789369 rs12483232 0 + T T C/T genomic single by-cluster,by-hapmap,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19789412 19789413 rs181745553 0 + G G A/C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19789421 19789422 rs373646660 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 735 chr21 19789483 19789484 rs529012891 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789490 19789491 rs547193851 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19789511 19789512 rs565809062 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19789523 19789524 rs539566874 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789684 19789685 rs558266148 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789742 19789743 rs762110996 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789750 19789751 rs186298701 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19789753 19789754 rs751414450 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789759 19789760 rs765312099 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19789784 19789785 rs537502262 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19789835 19789836 rs566814294 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 735 chr21 19789837 19789838 rs9305866 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.47517 0.10862 unknown exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1946.000000,3062.000000, 0.388578,0.611422, maf-5-some-pop,maf-5-all-pops 735 chr21 19789883 19789884 rs2268438 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49263 0.060254 unknown exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 2200.000000,2808.000000, 0.439297,0.560703, maf-5-some-pop,maf-5-all-pops 735 chr21 19789888 19789889 rs191357914 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790013 19790014 rs139030125 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 4 1000GENOMES,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4960.000000,48.000000, 0.990415,0.009585, 735 chr21 19790019 19790020 rs77490629 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4956.000000,52.000000, 0.989617,0.010383, 735 chr21 19790059 19790060 rs545557176 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790063 19790064 rs564252813 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790103 19790104 rs531198561 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790125 19790126 rs543414636 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19790129 19790130 rs182785270 0 + G G G/T genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 G,T, 4987.000000,21.000000, 0.995807,0.004193, 735 chr21 19790151 19790152 rs529171877 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 735 chr21 19790160 19790161 rs79336535 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.067817 0.1712 unknown exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4832.000000,176.000000, 0.964856,0.035144, maf-5-some-pop 735 chr21 19790172 19790173 rs142240451 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19790175 19790176 rs752668081 0 + A A A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790175 19790183 rs754764735 0 + ACACACAT ACACACAT -/ACACACAT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790181 19790182 rs760561884 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790189 19790197 rs766129284 0 + ATACACAT ATACACAT -/ATACACAT genomic deletion by-cluster 0 0 unknown range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790226 19790227 rs763613447 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790245 19790246 rs867949176 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 735 chr21 19790284 19790285 rs2824815 0 + G G C/G genomic single by-frequency,by-submitter 0.489796 0.070696 unknown exact 1 1 PERLEGEN, 2 C,G, 3.000000,4.000000, 0.428571,0.571429, 735 chr21 19790291 19790292 rs2268437 0 - A A G/T genomic single by-cluster,by-frequency,by-1000genomes 0.47517 0.10862 unknown exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 G,T, 3062.000000,1946.000000, 0.611422,0.388578, maf-5-some-pop,maf-5-all-pops 735 chr21 19790320 19790321 rs756936739 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790322 19790323 rs375651918 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 735 chr21 19790352 19790353 rs551583547 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790362 19790363 rs371484481 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19790397 19790398 rs537013416 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19790430 19790431 rs549418253 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790471 19790472 rs567920994 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19790473 19790474 rs535317675 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19790479 19790480 rs9974279 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.475701 0.107512 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3056.000000,1952.000000, 0.610224,0.389776, maf-5-some-pop,maf-5-all-pops 735 chr21 19790482 19790483 rs185445560 0 + T T C/G/T genomic single by-frequency,by-1000genomes 0.006769 0.057826 unknown exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 C,G,T, 3.000000,14.000000,4991.000000, 0.000599,0.002796,0.996605, 735 chr21 19790483 19790484 rs754648730 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19790498 19790499 rs557527466 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790508 19790509 rs576090609 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19790516 19790517 rs542986923 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790522 19790523 rs146314144 0 + A A A/G genomic single by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4963.000000,45.000000, 0.991014,0.008986, 735 chr21 19790535 19790536 rs530341550 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790541 19790542 rs148497293 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19790546 19790547 rs758882269 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790558 19790559 rs559271541 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790585 19790586 rs113052391 0 + G G A/G genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 A, 1.000000, 1.000000, 735 chr21 19790588 19790589 rs780526475 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790593 19790594 rs142872397 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 735 chr21 19790622 19790623 rs747541930 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790629 19790630 rs551564336 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19790632 19790633 rs752918707 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 DDI,WEILL_CORNELL_DGM, 0 735 chr21 19790635 19790636 rs190946990 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790673 19790674 rs183278136 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19790682 19790683 rs150633387 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 735 chr21 19790696 19790697 rs567641505 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19790709 19790710 rs535063921 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19790739 19790740 rs117515636 0 + A A A/C genomic single by-1000genomes 0.016528 0.089391 unknown exact 1 1 1000GENOMES, 2 A,C, 119.000000,1.000000, 0.991667,0.008333, 735 chr21 19790747 19790748 rs11088678 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.371582 0.218444 unknown exact 1 17 1000GENOMES,BCM-HGSC-SUB,BGI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3773.000000,1235.000000, 0.753395,0.246605, maf-5-some-pop 735 chr21 19790828 19790829 rs781338467 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790842 19790843 rs563368803 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19790860 19790861 rs187960162 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19790887 19790888 rs532453744 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19790889 19790890 rs538809498 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790946 19790947 rs376092929 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19790962 19790963 rs748244786 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19790997 19790998 rs769906921 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19791078 19791079 rs552428907 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19791090 19791091 rs2824816 0 + A A A/C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.407158 0.194426 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 21 1000GENOMES,BCM-HGSC-SUB,BGI,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3583.000000,1425.000000, 0.715455,0.284545, maf-5-some-pop 735 chr21 19791130 19791131 rs536733883 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19791169 19791170 rs555071802 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19791185 19791186 rs549085614 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSIP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 735 chr21 19791233 19791234 rs540668044 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19791263 19791264 rs9985007 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 735 chr21 19791269 19791270 rs62215001 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19791295 19791296 rs73893099 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 3 1000GENOMES,ILLUMINA-UK,TISHKOFF, 2 A,T, 4960.000000,48.000000, 0.990415,0.009585, maf-5-some-pop 735 chr21 19791308 19791309 rs544838951 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19791312 19791312 rs572214078 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.000798 0.019964 unknown between 1 1 1000GENOMES, 2 -,A, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19791335 19791336 rs193032234 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19791357 19791358 rs530643914 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 735 chr21 19791371 19791372 rs35994759 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 ABI, 0 735 chr21 19791394 19791395 rs775213508 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19791412 19791413 rs9977336 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.21845 0.248001 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 625.000000,4383.000000, 0.124800,0.875200, maf-5-some-pop 735 chr21 19791445 19791446 rs561406994 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19791468 19791469 rs763950702 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19791483 19791484 rs528452787 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19791535 19791538 rs367795495 0 + TCT TCT -/TCT genomic deletion unknown 0 0 unknown range 1 1 LUNTER, 0 735 chr21 19791536 19791537 rs77791042 0 + C C C/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 T, 2.000000, 1.000000, 735 chr21 19791537 19791540 rs540004490 0 + TTT TTT -/TTT genomic deletion by-frequency,by-1000genomes 0.047535 0.146656 unknown range 1 1 1000GENOMES, 2 -,TTT, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 735 chr21 19791563 19791564 rs768797599 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19791564 19791565 rs568335775 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 735 chr21 19791573 19791574 rs201115834 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 735 chr21 19791580 19791581 rs568955621 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 4 1000GENOMES,EVA-GONL,SSIP,WEILL_CORNELL_DGM, 2 C,T, 41.000000,4967.000000, 0.008187,0.991813, 735 chr21 19791581 19791582 rs531680824 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 735 chr21 19791594 19791595 rs139154757 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 735 chr21 19791601 19791602 rs183442278 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 1 1000GENOMES, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 735 chr21 19791602 19791603 rs765332076 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19791603 19791604 rs188254103 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 735 chr21 19791611 19791612 rs773169830 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19791627 19791628 rs536496302 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19791666 19791667 rs192791101 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 64.000000,4944.000000, 0.012780,0.987220, 735 chr21 19791677 19791678 rs567034430 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 735 chr21 19791683 19791684 rs762849831 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19791691 19791692 rs9305867 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.143622 0.226238 unknown exact 1 11 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 390.000000,4618.000000, 0.077875,0.922125, maf-5-some-pop 735 chr21 19791695 19791696 rs371577800 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,SSMP, 2 -,C, 34.000000,4974.000000, 0.006789,0.993211, 735 chr21 19791709 19791709 rs796643349 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HAMMER_LAB, 0 735 chr21 19791754 19791755 rs552957373 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19791763 19791764 rs62215002 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 735 chr21 19791769 19791770 rs147614457 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4964.000000,44.000000, 0.991214,0.008786, 735 chr21 19791774 19791775 rs557019022 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19791785 19791786 rs142310950 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19791795 19791796 rs144473898 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 735 chr21 19791800 19791801 rs561317807 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19791826 19791827 rs528617376 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 735 chr21 19791836 19791837 rs540227799 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 735 chr21 19791837 19791838 rs767225148 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 735 chr21 19791840 19791841 rs565267184 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 735 chr21 19791860 19791861 rs750075331 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 735 chr21 19791865 19791866 rs145464262 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 735 chr21 19791870 19791871 rs551254053 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19791880 19791881 rs569492452 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19791916 19791917 rs61173074 0 + G G G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,HGSV, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19791964 19791965 rs186760190 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19792009 19792010 rs566997672 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19792026 19792027 rs780581450 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792076 19792077 rs148817222 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 736 chr21 19792079 19792080 rs552818983 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19792091 19792092 rs2268436 0 - T T A/C genomic single by-cluster,by-frequency,by-1000genomes 0.149665 0.228982 unknown exact 1 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,C, 4600.000000,408.000000, 0.918530,0.081470, maf-5-some-pop 736 chr21 19792104 19792105 rs781611155 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792124 19792125 rs750925939 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19792141 19792142 rs758892128 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19792164 19792165 rs75654447 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19792172 19792173 rs557178507 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19792272 19792273 rs372518075 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19792281 19792282 rs191376794 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19792319 19792320 rs184545582 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19792351 19792352 rs9978062 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 4 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4954.000000,54.000000, 0.989217,0.010783, 736 chr21 19792356 19792357 rs117285268 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19792381 19792382 rs540701217 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19792394 19792395 rs780613534 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19792420 19792421 rs574770622 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19792440 19792441 rs565283992 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19792448 19792449 rs77304219 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 736 chr21 19792450 19792451 rs9977190 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.215446 0.2476 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4393.000000,615.000000, 0.877196,0.122804, maf-5-some-pop 736 chr21 19792495 19792496 rs769030472 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19792527 19792528 rs189329827 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19792537 19792538 rs769809234 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792538 19792539 rs530350992 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,G, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19792571 19792572 rs548343757 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19792573 19792574 rs117452194 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19792597 19792598 rs563330089 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19792613 19792614 rs749530455 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792623 19792624 rs771081130 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792649 19792654 rs748409709 0 + TTTTT TTTTT -/TTTTT genomic deletion by-cluster 0 0 unknown range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792675 19792676 rs148017376 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19792716 19792717 rs532445148 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19792731 19792732 rs571261850 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19792761 19792761 rs200934521 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 736 chr21 19792762 19792763 rs199953596 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 1 ILLUMINA, 0 736 chr21 19792763 19792763 rs5842688 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.037604 0.131863 unknown between 1 15 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,G, 96.000000,4912.000000, 0.019169,0.980831, maf-5-some-pop 736 chr21 19792764 19792764 rs397817276 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 SingleAlleleFreq 5 ABI,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI, 1 G, 2.000000, 1.000000, 736 chr21 19792765 19792765 rs869074719 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 DEVINE_LAB, 0 736 chr21 19792769 19792770 rs538590135 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,T, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19792782 19792783 rs867472308 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19792789 19792790 rs760528837 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792818 19792819 rs117119795 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 736 chr21 19792827 19792828 rs62215017 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19792838 19792839 rs536529006 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19792851 19792852 rs181838057 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19792866 19792867 rs185321743 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19792882 19792884 rs550909402 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,TT, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19792898 19792899 rs189781610 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19792915 19792916 rs772721176 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792919 19792920 rs62215018 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19792939 19792940 rs577274129 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19792942 19792943 rs766203214 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19792996 19792997 rs544558299 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793000 19793001 rs751246219 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19793009 19793010 rs562562272 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793019 19793020 rs62215019 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19793055 19793056 rs551419865 0 + C C A/C/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 JMKIDD_LAB,SSIP, 0 736 chr21 19793064 19793065 rs181387044 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19793101 19793102 rs560497585 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19793151 19793152 rs185781691 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793165 19793166 rs755952530 0 + G G A/G genomic single unknown 0 0 unknown exact 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19793268 19793269 rs552507096 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19793293 19793294 rs564960831 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19793309 19793310 rs189709595 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793328 19793329 rs756590439 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19793332 19793333 rs77955109 0 + T T A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19793345 19793346 rs777725951 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19793347 19793356 rs138717097 0 + GGAGAGCTT GGAGAGCTT -/GGAGAGCTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 unknown range 1 MixedObserved 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,GGAGAGCTT, 73.000000,4935.000000, 0.014577,0.985423, maf-5-some-pop 736 chr21 19793347 19793348 rs180913390 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19793386 19793387 rs571408290 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19793406 19793407 rs118090208 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19793410 19793411 rs548499960 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19793434 19793435 rs759360144 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19793513 19793514 rs566774934 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19793526 19793527 rs566415476 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19793534 19793535 rs2824817 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.145978 0.227331 unknown exact 1 18 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4611.000000,397.000000, 0.920727,0.079273, maf-5-some-pop 736 chr21 19793538 19793539 rs866864936 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19793554 19793555 rs558485881 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793598 19793599 rs540298985 0 + T T A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 736 chr21 19793643 19793644 rs62215020 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19793655 19793655 rs752370617 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 736 chr21 19793669 19793670 rs537928533 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19793677 19793678 rs140878900 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793738 19793739 rs574492495 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793747 19793748 rs748050263 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19793807 19793808 rs111792075 0 + C C C/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19793811 19793812 rs145133190 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19793812 19793813 rs138956155 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19793833 19793834 rs572667694 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19793882 19793883 rs186293030 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19793888 19793889 rs2255954 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.372592 0.217879 unknown exact 1 20 1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1240.000000,3768.000000, 0.247604,0.752396, maf-5-some-pop,genotype-conflict 736 chr21 19793975 19793976 rs142251971 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19793991 19793992 rs533717051 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSIP, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19793993 19793994 rs562619940 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19794007 19794008 rs529666259 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19794017 19794018 rs192122069 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19794018 19794019 rs557182960 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794029 19794030 rs183630908 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19794059 19794060 rs577474185 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19794064 19794065 rs188524149 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19794079 19794080 rs545841617 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19794083 19794084 rs191348447 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19794174 19794175 rs570535982 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19794185 19794186 rs9983948 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.212728 0.247206 unknown exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4402.000000,606.000000, 0.878994,0.121006, maf-5-some-pop 736 chr21 19794186 19794187 rs66870636 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.477004 0.104734 unknown exact 1 15 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1967.000000,3041.000000, 0.392772,0.607228, maf-5-some-pop,maf-5-all-pops 736 chr21 19794192 19794193 rs568227141 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19794198 19794199 rs77619522 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 736 chr21 19794250 19794251 rs759227709 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794251 19794252 rs553773481 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19794261 19794262 rs767790537 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794301 19794302 rs753043981 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794301 19794301 rs569146471 0 + - - -/TTT genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 SSIP, 0 736 chr21 19794331 19794332 rs376556179 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19794376 19794377 rs572432042 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19794401 19794402 rs138161691 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.214843 0.247516 unknown exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4395.000000,613.000000, 0.877596,0.122404, maf-5-some-pop 736 chr21 19794444 19794445 rs4816770 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.392325 0.205532 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3666.000000,1342.000000, 0.732029,0.267971, maf-5-some-pop,maf-5-all-pops 736 chr21 19794466 19794467 rs754328821 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794476 19794477 rs576557960 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19794491 19794492 rs375534937 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19794493 19794494 rs544032134 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19794509 19794510 rs112146616 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.212728 0.247206 unknown exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4402.000000,606.000000, 0.878994,0.121006, maf-5-some-pop 736 chr21 19794512 19794513 rs9983572 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 4 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 54.000000,4954.000000, 0.010783,0.989217, 736 chr21 19794590 19794591 rs541815476 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19794605 19794606 rs559869108 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19794607 19794608 rs182437729 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19794665 19794666 rs2824818 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.441158 0.161117 unknown exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 3363.000000,1645.000000, 0.671526,0.328474, maf-5-some-pop,maf-5-all-pops 736 chr21 19794687 19794688 rs533277700 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794687 19794688 rs553971228 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 MixedObserved 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,T, 4954.000000,54.000000, 0.989217,0.010783, 736 chr21 19794697 19794698 rs76949300 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19794701 19794702 rs776697781 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19794717 19794718 rs2824819 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.175254 0.238565 unknown exact 1 15 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 486.000000,4522.000000, 0.097045,0.902955, maf-5-some-pop 736 chr21 19794785 19794786 rs549583338 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19794786 19794787 rs780854193 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794796 19794797 rs148756605 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19794826 19794827 rs748043379 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19794843 19794844 rs369495699 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19794893 19794894 rs144711791 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19794898 19794899 rs75749265 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19794900 19794901 rs368058575 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19794922 19794923 rs535168474 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19794923 19794924 rs187078555 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19794929 19794930 rs9631199 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.207559 0.246371 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 589.000000,4419.000000, 0.117612,0.882388, maf-5-some-pop 736 chr21 19794930 19794931 rs576682825 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19794934 19794935 rs537607073 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19794936 19794937 rs556016563 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19794953 19794954 rs73325952 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 736 chr21 19794976 19794977 rs377301160 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19794979 19794980 rs370904555 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19794997 19794998 rs749272515 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19794998 19794999 rs191090490 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19795010 19795011 rs770600327 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19795066 19795067 rs147195264 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 736 chr21 19795104 19795105 rs568611621 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19795131 19795132 rs183788822 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19795143 19795144 rs545795769 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19795223 19795224 rs759119841 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19795230 19795231 rs140461104 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 736 chr21 19795253 19795254 rs144542177 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19795259 19795260 rs555727822 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19795269 19795270 rs189005346 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19795304 19795305 rs567429604 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19795311 19795312 rs866226432 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19795343 19795344 rs193132034 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19795392 19795393 rs547572486 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19795421 19795422 rs761157068 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19795455 19795456 rs566166679 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19795475 19795476 rs539409095 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19795552 19795552 rs34548538 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19795579 19795580 rs764419033 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19795581 19795582 rs551766560 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19795635 19795636 rs140386182 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19795691 19795692 rs771975859 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19795726 19795727 rs5842689 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.426201 0.177351 unknown exact 1 MixedObserved 3 1000GENOMES,BILGI_BIOE,PJP, 2 -,T, 1542.000000,3466.000000, 0.307907,0.692093, maf-5-some-pop,maf-5-all-pops 736 chr21 19795726 19795728 rs5842690 0 + TT TT -/TT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PJP,SSMP, 0 736 chr21 19795727 19795728 rs753101980 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19795739 19795740 rs76135810 0 + T T G/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19795741 19795742 rs397867517 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19795742 19795743 rs397823107 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 736 chr21 19795748 19795749 rs185194364 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19795755 19795756 rs376107186 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19795779 19795780 rs536598295 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19795789 19795790 rs369612746 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19795811 19795812 rs1986314 0 + G G A/G genomic single by-cluster,by-2hit-2allele,by-1000genomes 0 0 unknown exact 1 9 1000GENOMES,ABI,EVA-GONL,EVA_GENOME_DK,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 0 736 chr21 19795820 19795821 rs775489773 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19795825 19795826 rs574272491 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19795828 19795829 rs760548363 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19795833 19795834 rs370151240 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19795869 19795870 rs535226975 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19795899 19795900 rs374913347 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19795945 19795945 rs577448635 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 736 chr21 19795951 19795952 rs7509858 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.47709 0.104548 unknown exact 1 15 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3040.000000,1968.000000, 0.607029,0.392971, maf-5-some-pop,maf-5-all-pops 736 chr21 19795956 19795957 rs184229606 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 736 chr21 19795959 19795960 rs753548879 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19795974 19795975 rs9976650 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.210605 0.246877 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4409.000000,599.000000, 0.880391,0.119609, maf-5-some-pop 736 chr21 19796004 19796005 rs545455753 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796020 19796021 rs5842691 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.165527 0.235296 unknown exact 1 DuplicateObserved 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,C, 456.000000,4552.000000, 0.091054,0.908946, maf-5-some-pop 736 chr21 19796020 19796021 rs869269474 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 DuplicateObserved 1 DEVINE_LAB, 0 736 chr21 19796022 19796023 rs9976010 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.126909 0.217598 unknown exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 341.000000,4667.000000, 0.068091,0.931909, maf-5-some-pop 736 chr21 19796028 19796029 rs562123983 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19796046 19796047 rs575668331 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19796057 19796058 rs758403110 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796086 19796087 rs182036275 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19796092 19796093 rs751706241 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796097 19796098 rs561694370 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796100 19796101 rs755974490 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796106 19796107 rs777667916 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796116 19796117 rs529006781 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19796129 19796130 rs547578430 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19796194 19796195 rs559552656 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796202 19796203 rs184004053 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSIP, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19796303 19796304 rs575825796 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796305 19796306 rs188695066 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796314 19796315 rs374094946 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19796334 19796335 rs570048162 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796338 19796339 rs537480325 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796359 19796360 rs576068451 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSIP, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19796397 19796398 rs368438851 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19796399 19796400 rs567971449 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796509 19796510 rs2824820 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.4231 0.180378 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3486.000000,1522.000000, 0.696086,0.303914, maf-5-some-pop 736 chr21 19796513 19796514 rs144635298 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN,SSMP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19796522 19796525 rs796879990 0 + AAT AAT -/AAT genomic deletion unknown 0 0 unknown range 1 1 HAMMER_LAB, 0 736 chr21 19796525 19796528 rs374976080 0 + AAT AAT -/AAT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19796539 19796540 rs775259201 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796679 19796680 rs73895605 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 151.000000,4857.000000, 0.030152,0.969848, maf-5-some-pop 736 chr21 19796714 19796715 rs539505975 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796719 19796720 rs559888997 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796757 19796758 rs776932892 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796758 19796759 rs557471706 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796772 19796773 rs180869817 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19796820 19796821 rs762311916 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796865 19796866 rs369865166 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19796889 19796890 rs116591235 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19796940 19796941 rs765798656 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19796969 19796970 rs555202343 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19796972 19796973 rs138965380 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19797023 19797024 rs199604676 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 1 1000GENOMES, 2 -,T, 29.000000,4979.000000, 0.005791,0.994209, 736 chr21 19797028 19797029 rs185474903 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 736 chr21 19797104 19797105 rs7281405 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.378962 0.21417 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3736.000000,1272.000000, 0.746006,0.253994, maf-5-some-pop,maf-5-all-pops 736 chr21 19797145 19797146 rs75577290 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.047155 0.14613 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4887.000000,121.000000, 0.975839,0.024161, maf-5-some-pop 736 chr21 19797170 19797171 rs545471663 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19797173 19797174 rs568576017 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19797186 19797190 rs67697186 0 + AATT AATT -/AATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.124144 0.21601 unknown range 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,AATT, 333.000000,4675.000000, 0.066494,0.933506, maf-5-some-pop 736 chr21 19797188 19797192 rs78982544 0 + TTAA TTAA -/TTAA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 PJP, 0 736 chr21 19797188 19797189 rs371848251 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 MixedObserved 4 1000GENOMES,EVA_DECODE,WARNICH_LAB,WEILL_CORNELL_DGM, 2 A,T, 45.000000,4963.000000, 0.008986,0.991014, 736 chr21 19797199 19797200 rs369387982 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19797232 19797233 rs140649600 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19797256 19797257 rs550881437 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19797286 19797287 rs4818409 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.41507 0.187755 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3536.000000,1472.000000, 0.706070,0.293930, maf-5-some-pop,maf-5-all-pops 736 chr21 19797302 19797303 rs747581569 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 2 DDI,WEILL_CORNELL_DGM, 0 736 chr21 19797326 19797330 rs144639696 0 + AATT AATT -/AATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.05811 0.160244 unknown range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AATT, 150.000000,4858.000000, 0.029952,0.970048, maf-5-some-pop 736 chr21 19797333 19797334 rs867954607 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19797364 19797365 rs143826634 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19797445 19797446 rs12627382 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.477175 0.104362 unknown exact 1 16 1000GENOMES,BCM-HGSC-SUB,BGI,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3039.000000,1969.000000, 0.606829,0.393171, maf-5-some-pop,maf-5-all-pops 736 chr21 19797448 19797449 rs192234427 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19797492 19797493 rs114060059 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4976.000000,32.000000, 0.993610,0.006390, 736 chr21 19797494 19797495 rs557385310 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19797517 19797518 rs142008028 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19797550 19797551 rs868035215 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19797597 19797598 rs536615236 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19797600 19797601 rs2824821 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.477004 0.104734 unknown exact 1 22 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3041.000000,1967.000000, 0.607228,0.392772, maf-5-some-pop 736 chr21 19797601 19797602 rs573583928 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19797621 19797622 rs746750785 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19797630 19797631 rs535815294 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19797784 19797785 rs373773650 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19797811 19797812 rs4818410 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.420574 0.182769 unknown exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1506.000000,3502.000000, 0.300719,0.699281, maf-5-some-pop,maf-5-all-pops 736 chr21 19797845 19797846 rs553031582 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19797866 19797867 rs182239865 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19797883 19797884 rs745773720 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19797914 19797915 rs112782664 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, 736 chr21 19797925 19797926 rs13050158 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.311859 0.242226 unknown exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4040.000000,968.000000, 0.806709,0.193291, maf-5-some-pop 736 chr21 19797944 19797945 rs187569756 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19797975 19797976 rs112420668 0 + T T C/T genomic single by-cluster,by-1000genomes 0.5 0 unknown exact 1 5 1000GENOMES,BUSHMAN,EVA-GONL,GMI,SSMP, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19797989 19797990 rs116890694 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19798001 19798002 rs73895606 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 unknown exact 1 7 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,EVA-GONL,GMI,ILLUMINA-UK, 2 C,G, 2.000000,2.000000, 0.500000,0.500000, 736 chr21 19798028 19798029 rs543173584 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19798029 19798030 rs371332285 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19798076 19798077 rs561252574 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19798096 19798097 rs528519349 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19798111 19798112 rs547269501 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19798164 19798165 rs191451994 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19798194 19798195 rs368435245 0 + C C C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 TISHKOFF,WEILL_CORNELL_DGM, 0 736 chr21 19798195 19798196 rs2824822 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.414905 0.187899 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1471.000000,3537.000000, 0.293730,0.706270, maf-5-some-pop,maf-5-all-pops 736 chr21 19798277 19798278 rs768230806 0 + G G A/C/G genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798282 19798283 rs550777676 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19798308 19798309 rs569382697 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19798325 19798329 rs751469503 0 + TATT TATT -/TATT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798325 19798326 rs762456948 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 EVA_DECODE, 0 736 chr21 19798344 19798345 rs536725819 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19798363 19798364 rs548701813 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19798365 19798366 rs567241880 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19798391 19798392 rs376623945 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19798404 19798405 rs147476773 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19798421 19798422 rs140525626 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19798427 19798428 rs577878414 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19798441 19798442 rs538811229 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19798459 19798460 rs748568999 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798475 19798476 rs770120401 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798503 19798504 rs866903737 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19798521 19798522 rs182889060 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19798544 19798544 rs148477687 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.036451 0.129988 unknown between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,A, 4915.000000,93.000000, 0.981430,0.018570, maf-5-some-pop 736 chr21 19798553 19798554 rs575546806 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19798565 19798566 rs543135306 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19798567 19798568 rs773807623 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798652 19798653 rs561273592 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19798663 19798664 rs142827342 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19798665 19798666 rs78913071 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4962.000000,46.000000, 0.990815,0.009185, maf-5-some-pop 736 chr21 19798696 19798697 rs767956906 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19798719 19798720 rs763325420 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798777 19798778 rs529164203 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19798793 19798794 rs9980473 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.127254 0.217792 unknown exact 1 16 1000GENOMES,BUSHMAN,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4666.000000,342.000000, 0.931709,0.068291, maf-5-some-pop 736 chr21 19798818 19798819 rs533398052 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19798882 19798883 rs17002637 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.053216 0.154195 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PERLEGEN,WEILL_CORNELL_DGM, 2 C,T, 137.000000,4871.000000, 0.027356,0.972644, maf-5-some-pop 736 chr21 19798899 19798900 rs550889899 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19798907 19798908 rs74412834 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19798908 19798909 rs530269254 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19798919 19798920 rs57558923 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,TISHKOFF, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19798933 19798934 rs550429429 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19798934 19798935 rs567250300 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19798950 19798953 rs570051326 0 + TAA TAA -/TAA genomic deletion by-frequency,by-1000genomes 0.019377 0.096505 unknown range 1 1 1000GENOMES, 2 -,TAA, 49.000000,4959.000000, 0.009784,0.990216, 736 chr21 19798952 19798953 rs186995349 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19798952 19798955 rs373231789 0 + ATA ATA -/ATA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 TISHKOFF, 0 736 chr21 19798959 19798959 rs752499973 0 + - - -/ACT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798964 19798965 rs752957183 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19798986 19798987 rs545026839 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19799014 19799015 rs757169792 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19799030 19799031 rs764912724 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19799043 19799044 rs546303368 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19799049 19799050 rs866181877 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19799052 19799053 rs190253973 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19799059 19799060 rs755730992 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19799070 19799071 rs148493592 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 1 1000GENOMES, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 736 chr21 19799099 19799100 rs746046763 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19799117 19799118 rs2824823 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.435119 0.16802 unknown exact 1 27 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3406.000000,1602.000000, 0.680112,0.319888, maf-5-some-pop,maf-5-all-pops 736 chr21 19799153 19799154 rs575508057 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799167 19799168 rs536453867 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799170 19799171 rs182139943 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19799171 19799172 rs551503459 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799180 19799181 rs13050735 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.314301 0.241589 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4030.000000,978.000000, 0.804712,0.195288, maf-5-some-pop 736 chr21 19799192 19799193 rs2300512 0 - T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.388398 0.208197 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,T, 1321.000000,3687.000000, 0.263778,0.736222, maf-5-some-pop,maf-5-all-pops 736 chr21 19799237 19799238 rs371798727 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19799262 19799263 rs117287590 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19799266 19799266 rs35272165 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19799274 19799275 rs118146151 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19799275 19799276 rs2300511 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.371177 0.218669 unknown exact 1 15 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 1233.000000,3775.000000, 0.246206,0.753794, maf-5-some-pop 736 chr21 19799294 19799295 rs530183402 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19799295 19799296 rs548504702 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19799296 19799297 rs567143864 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19799329 19799330 rs200862086 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19799346 19799347 rs187686992 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799361 19799362 rs192758925 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799455 19799456 rs770173539 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19799468 19799469 rs546712645 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19799498 19799499 rs2824824 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.314544 0.241524 unknown exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,BUSHMAN,CHURCH_CG54K,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4029.000000,979.000000, 0.804513,0.195487, maf-5-some-pop 736 chr21 19799499 19799500 rs532192173 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19799507 19799508 rs183697863 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19799541 19799542 rs17002640 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.136166 0.22258 unknown exact 1 17 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4640.000000,368.000000, 0.926518,0.073482, maf-5-some-pop 736 chr21 19799560 19799561 rs189088564 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799590 19799591 rs537950432 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19799601 19799602 rs558657082 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799619 19799620 rs566686125 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799623 19799624 rs35016461 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19799628 19799629 rs768428553 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 DDI, 0 736 chr21 19799655 19799656 rs759751722 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19799670 19799671 rs772866788 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19799671 19799672 rs534020273 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19799677 19799678 rs559049131 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19799689 19799690 rs35637500 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.264906 0.249555 unknown exact 1 MixedObserved 19 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 4221.000000,787.000000, 0.842851,0.157149, maf-5-some-pop 736 chr21 19799689 19799690 rs370620274 0 + A A A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 736 chr21 19799690 19799691 rs398101508 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 GMI,HGSV, 0 736 chr21 19799720 19799721 rs576820957 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19799748 19799749 rs60062064 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,HGSV,SSMP, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19799752 19799753 rs191970522 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19799782 19799783 rs574806974 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19799818 19799819 rs572187983 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19799827 19799828 rs540385692 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19799846 19799847 rs542539546 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19799850 19799851 rs184718386 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19799859 19799860 rs139786820 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19799860 19799861 rs117734904 0 + T T C/T genomic single by-frequency,by-1000genomes 0.032778 0.123752 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,118.000000, 0.016667,0.983333, 736 chr21 19799903 19799904 rs188642367 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 736 chr21 19799911 19799912 rs760941082 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19799956 19799957 rs539951655 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800043 19800044 rs564975999 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19800102 19800103 rs73198319 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19800124 19800125 rs143291381 0 + G G G/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19800127 19800128 rs191893276 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19800137 19800138 rs569143796 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800161 19800162 rs529923363 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800165 19800166 rs548498980 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19800170 19800171 rs377265284 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19800171 19800173 rs796980408 0 + TC TC -/TC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800171 19800171 rs5842692 0 + - - -/T genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 MixedObserved 14 1000GENOMES,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19800172 19800172 rs397715816 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 SingleAlleleFreq 6 ABI,DEVINE_LAB,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 736 chr21 19800190 19800191 rs566539822 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800301 19800302 rs534037478 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800323 19800324 rs558731644 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800324 19800325 rs775949779 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19800331 19800332 rs183713063 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 35.000000,4973.000000, 0.006989,0.993011, 736 chr21 19800339 19800340 rs146685219 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.07705 0.180522 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4807.000000,201.000000, 0.959864,0.040136, maf-5-some-pop 736 chr21 19800340 19800341 rs140279352 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002793 0.037282 unknown exact 1 SingleClassTriAllelic 3 1000GENOMES,EVA-GONL,ILLUMINA, 3 A,G,T, 4.000000,5001.000000,3.000000, 0.000799,0.998602,0.000599, 736 chr21 19800374 19800375 rs375653936 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19800408 19800409 rs542151790 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800422 19800423 rs189071381 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19800459 19800460 rs554499303 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800471 19800472 rs150468934 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19800510 19800511 rs866922661 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19800511 19800512 rs546387778 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19800512 19800513 rs531164586 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800515 19800516 rs544688621 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19800517 19800518 rs13047967 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19800518 19800519 rs13051062 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19800529 19800530 rs544351190 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800530 19800531 rs562451398 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800532 19800533 rs758207232 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800535 19800536 rs529734355 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800536 19800564 rs753155964 0 + TGACTGTGGAGTCCTTACAGTAGTCAGG TGACTGTGGAGTCCTTACAGTAGTCAGG -/TGACTGTGGAGTCCTTACAGTAGTCAGG genomic deletion unknown 0 0 unknown range 1 1 EVA_GENOME_DK, 0 736 chr21 19800549 19800550 rs548184701 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800553 19800554 rs4816771 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 unknown exact 1 23 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 736 chr21 19800556 19800557 rs564959192 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19800570 19800571 rs66739490 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.47709 0.104548 unknown exact 1 16 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1968.000000,3040.000000, 0.392971,0.607029, maf-5-some-pop,maf-5-all-pops 736 chr21 19800576 19800577 rs754521529 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800579 19800580 rs551967688 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800588 19800589 rs13047647 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19800589 19800590 rs13048090 0 + A A A/C/G genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP, 0 736 chr21 19800597 19800598 rs570582323 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800598 19800599 rs180976721 0 + A A A/C genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800599 19800600 rs117307134 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036451 0.129988 unknown exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,MPI_MOLGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 93.000000,4915.000000, 0.018570,0.981430, 736 chr21 19800632 19800633 rs549904895 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800642 19800643 rs149220990 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19800649 19800650 rs13046881 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19800660 19800661 rs9975427 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.206642 0.246211 unknown exact 1 17 1000GENOMES,AFFY,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,KRIBB_YJKIM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4422.000000,586.000000, 0.882987,0.117013, maf-5-some-pop 736 chr21 19800663 19800664 rs13048186 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19800669 19800670 rs771317183 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800670 19800671 rs554130410 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800678 19800679 rs13048195 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19800679 19800680 rs572714853 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800680 19800681 rs13051286 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19800694 19800695 rs143369951 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19800703 19800704 rs558360100 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800722 19800723 rs779340537 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800723 19800724 rs187025547 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19800725 19800726 rs139061865 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19800753 19800754 rs577415947 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19800761 19800762 rs562619937 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800795 19800796 rs868624057 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19800819 19800825 rs565805412 0 + TGATTT TGATTT -/TGATTT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,TGATTT, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19800831 19800832 rs574302336 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19800832 19800833 rs142965334 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,EVA_DECODE, 0 736 chr21 19800837 19800838 rs549743671 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800847 19800848 rs541815030 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800904 19800905 rs560152810 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19800908 19800909 rs772311228 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800928 19800929 rs374072320 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19800932 19800933 rs552089872 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19800945 19800946 rs775663436 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800947 19800948 rs4816772 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.314301 0.241589 unknown exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 978.000000,4030.000000, 0.195288,0.804712, maf-5-some-pop 736 chr21 19800967 19800968 rs768694338 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19800968 19800969 rs369704204 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801003 19801004 rs549819041 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801008 19801009 rs776898116 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801028 19801029 rs762704428 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801029 19801030 rs568550002 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19801037 19801038 rs535447395 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801065 19801066 rs772665340 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801082 19801083 rs766166194 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801084 19801085 rs547793403 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801085 19801086 rs373890874 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801086 19801087 rs751526917 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801088 19801089 rs147032607 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801089 19801090 rs138419946 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19801097 19801098 rs576706948 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19801166 19801167 rs759417253 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801169 19801170 rs531709026 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19801174 19801175 rs537645318 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801178 19801179 rs538196262 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801202 19801203 rs556251118 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801236 19801237 rs377078350 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19801238 19801239 rs13051730 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.314301 0.241589 unknown exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4030.000000,978.000000, 0.804712,0.195288, maf-5-some-pop 736 chr21 19801255 19801256 rs755641022 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801267 19801268 rs368743750 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19801278 19801279 rs562145659 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19801298 19801299 rs114999922 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19801301 19801302 rs190813932 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19801317 19801318 rs141889607 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031052 0.120672 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4929.000000,79.000000, 0.984225,0.015775, maf-5-some-pop 736 chr21 19801336 19801337 rs181506606 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19801345 19801346 rs150781859 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19801359 19801360 rs757605651 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801387 19801388 rs139123628 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19801395 19801396 rs543230135 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19801420 19801421 rs562013960 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801446 19801447 rs149536687 0 + C C A/C genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 A,C, 26.000000,4982.000000, 0.005192,0.994808, 736 chr21 19801461 19801462 rs185989767 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19801474 19801475 rs566054211 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801527 19801528 rs533411608 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19801545 19801546 rs777368265 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19801578 19801579 rs190012107 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19801624 19801625 rs553544029 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801642 19801643 rs573549324 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19801682 19801683 rs570370532 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801707 19801708 rs537605096 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801708 19801709 rs4816773 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.31014 0.242659 unknown exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 961.000000,4047.000000, 0.191893,0.808107, maf-5-some-pop 736 chr21 19801714 19801715 rs772650989 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801722 19801723 rs780285349 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801741 19801742 rs547914870 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19801753 19801754 rs556001877 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19801769 19801770 rs567789688 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801779 19801780 rs182431642 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 SingleClassTriAllelic 2 1000GENOMES,EVA_DECODE, 0 736 chr21 19801781 19801782 rs4818411 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.2776 0.248472 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4174.000000,834.000000, 0.833466,0.166534, maf-5-some-pop 736 chr21 19801784 19801785 rs768759139 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19801787 19801788 rs539257023 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801813 19801814 rs769145665 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19801851 19801852 rs143201269 0 + G G C/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,G, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19801862 19801863 rs545407637 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801893 19801894 rs146658637 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801935 19801936 rs575953709 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19801936 19801937 rs370507093 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19801937 19801938 rs543342023 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19801956 19801957 rs561906676 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19801958 19801959 rs186620172 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19802027 19802028 rs762196676 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19802128 19802129 rs776757147 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802183 19802184 rs541511173 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19802188 19802189 rs61242901 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 736 chr21 19802209 19802210 rs533324099 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19802233 19802234 rs139244927 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19802251 19802252 rs762054313 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802317 19802318 rs551812366 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19802328 19802329 rs570334151 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19802377 19802378 rs770652201 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802381 19802382 rs544961186 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802390 19802391 rs75916170 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19802400 19802401 rs190617323 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19802413 19802414 rs369336512 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19802431 19802432 rs202081560 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19802440 19802441 rs73895607 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 736 chr21 19802444 19802445 rs553792529 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19802474 19802475 rs867841503 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19802507 19802508 rs767506669 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802508 19802509 rs73325962 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4893.000000,115.000000, 0.977037,0.022963, maf-5-some-pop 736 chr21 19802538 19802539 rs62215021 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19802597 19802598 rs62215022 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19802603 19802604 rs763631333 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802607 19802608 rs753468311 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802644 19802647 rs202031238 0 + TTG TTG -/TTG genomic deletion unknown 0 0 unknown range 1 1 GMI, 0 736 chr21 19802660 19802661 rs575666678 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19802681 19802682 rs756887382 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802710 19802711 rs141029116 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19802738 19802739 rs182860141 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19802753 19802754 rs374073429 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19802802 19802803 rs188766535 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19802812 19802813 rs540878426 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19802813 19802814 rs758831365 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802831 19802832 rs780755242 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802859 19802860 rs559761137 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19802869 19802870 rs747519815 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19802874 19802875 rs540453612 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19802883 19802884 rs578157725 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19802884 19802885 rs192659003 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19802902 19802903 rs563655949 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19802943 19802944 rs149856663 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19802993 19802994 rs549609351 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19802998 19802999 rs866316215 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19803019 19803020 rs781282396 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19803032 19803033 rs182980631 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19803033 19803034 rs73895611 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 6 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 736 chr21 19803036 19803037 rs9647202 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19803048 19803049 rs187617107 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19803060 19803060 rs35592395 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19803065 19803066 rs539132151 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19803103 19803104 rs551102882 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19803115 19803116 rs569305606 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19803121 19803121 rs35842059 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19803136 19803137 rs773413997 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19803144 19803145 rs536644947 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19803146 19803147 rs751591335 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19803152 19803153 rs745716370 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19803171 19803172 rs555595357 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19803192 19803193 rs771835494 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19803230 19803231 rs573868278 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19803240 19803241 rs560664087 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19803246 19803247 rs755028239 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19803280 19803281 rs775451115 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19803285 19803286 rs529461365 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19803359 19803359 rs535133164 0 + - - -/CAGCTAG genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,CAGCTAG, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19803393 19803394 rs534785798 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19803439 19803440 rs75796301 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.133093 0.220981 unknown exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4649.000000,359.000000, 0.928315,0.071685, maf-5-some-pop 736 chr21 19803460 19803461 rs147049059 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19803476 19803477 rs763537812 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19803490 19803491 rs192258900 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19803500 19803501 rs138283961 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 736 chr21 19803515 19803516 rs184616444 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19803537 19803538 rs776150701 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19803539 19803539 rs34225699 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19803567 19803568 rs575556576 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19803568 19803569 rs542673504 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19803590 19803591 rs557839600 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19803597 19803598 rs375514088 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19803663 19803664 rs528759601 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19803714 19803715 rs547306142 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19803742 19803743 rs565128390 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19803758 19803759 rs563138391 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19803768 19803769 rs114169797 0 + G G A/G genomic single by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 1 1000GENOMES, 2 A,G, 57.000000,4951.000000, 0.011382,0.988618, 736 chr21 19803780 19803782 rs558002937 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown range 1 2 1000GENOMES,EVA_DECODE, 2 -,CT, 21.000000,4987.000000, 0.004193,0.995807, 736 chr21 19803898 19803899 rs35049706 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.328383 0.237395 unknown exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1037.000000,3971.000000, 0.207069,0.792931, maf-5-some-pop 736 chr21 19803922 19803923 rs115291982 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036835 0.130617 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4914.000000,94.000000, 0.981230,0.018770, maf-5-some-pop 736 chr21 19803937 19803938 rs2824825 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.420574 0.182769 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3502.000000,1506.000000, 0.699281,0.300719, maf-5-some-pop,maf-5-all-pops 736 chr21 19803938 19803939 rs563102815 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19803982 19803983 rs548721891 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19804006 19804007 rs567278647 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19804014 19804015 rs189890563 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804028 19804029 rs553342894 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19804050 19804051 rs571422124 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804100 19804101 rs2824826 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.416382 0.186593 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1480.000000,3528.000000, 0.295527,0.704473, maf-5-some-pop,maf-5-all-pops 736 chr21 19804115 19804116 rs557459071 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804210 19804211 rs192295930 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19804236 19804237 rs543136499 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804259 19804260 rs554651154 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804269 19804270 rs573230221 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19804297 19804297 rs34826565 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19804306 19804307 rs770500562 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19804325 19804326 rs73895612 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4980.000000,28.000000, 0.994409,0.005591, 736 chr21 19804344 19804345 rs758873930 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19804367 19804368 rs2824827 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.485596 0.083633 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2079.000000,2929.000000, 0.415136,0.584864, maf-5-some-pop,genotype-conflict 736 chr21 19804369 19804370 rs73895613 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.054348 0.155628 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 140.000000,4868.000000, 0.027955,0.972045, maf-5-some-pop 736 chr21 19804415 19804416 rs143263957 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19804473 19804474 rs184637340 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804495 19804496 rs189253021 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19804523 19804524 rs549094354 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19804526 19804527 rs745331376 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19804549 19804550 rs755452206 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19804551 19804552 rs867897698 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19804561 19804562 rs771511041 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19804600 19804601 rs781134081 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19804612 19804613 rs567140303 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19804613 19804614 rs148039328 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19804636 19804637 rs141717006 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19804638 19804639 rs571582613 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804640 19804641 rs748323132 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19804690 19804691 rs370570860 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19804701 19804702 rs538811192 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804705 19804706 rs9647083 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.416218 0.186739 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3529.000000,1479.000000, 0.704673,0.295327, maf-5-some-pop,maf-5-all-pops 736 chr21 19804706 19804707 rs569068451 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19804728 19804729 rs13049724 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.314057 0.241654 unknown exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 977.000000,4031.000000, 0.195088,0.804912, maf-5-some-pop 736 chr21 19804746 19804746 rs576947375 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.001596 0.028205 unknown between 1 1 1000GENOMES, 2 -,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19804776 19804777 rs555962794 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19804777 19804778 rs34019304 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19804835 19804836 rs73895614 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 736 chr21 19804837 19804838 rs868224353 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19804841 19804842 rs28470796 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.207253 0.246318 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 588.000000,4420.000000, 0.117412,0.882588, maf-5-some-pop,maf-5-all-pops 736 chr21 19804859 19804860 rs78451186 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.031175 0.121642 unknown exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 3 A,G,T, 35.000000,4929.000000,44.000000, 0.006989,0.984225,0.008786, 736 chr21 19804883 19804884 rs746934457 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19804905 19804906 rs768573306 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19804932 19804933 rs145995009 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19804941 19804942 rs544528842 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19804943 19804944 rs73198325 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.147656 0.228091 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4606.000000,402.000000, 0.919728,0.080272, maf-5-some-pop 736 chr21 19804950 19804951 rs376625481 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19804974 19804975 rs542353857 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19805026 19805027 rs181964499 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19805034 19805035 rs528059037 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19805083 19805084 rs529141647 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19805084 19805085 rs764808106 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805087 19805088 rs571991623 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19805092 19805093 rs116039352 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4853.000000,155.000000, 0.969050,0.030950, maf-5-some-pop 736 chr21 19805111 19805112 rs766863185 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805140 19805141 rs9982369 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.207559 0.246371 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 589.000000,4419.000000, 0.117612,0.882388, maf-5-some-pop,maf-5-all-pops 736 chr21 19805179 19805180 rs759812688 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805183 19805184 rs768123569 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805185 19805186 rs550937576 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19805215 19805215 rs200684412 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown between 1 1 1000GENOMES, 2 -,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19805229 19805230 rs568956659 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19805236 19805237 rs186351822 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19805238 19805239 rs2824828 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.208474 0.246527 unknown exact 1 15 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4416.000000,592.000000, 0.881789,0.118211, maf-5-some-pop 736 chr21 19805272 19805273 rs777795092 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805278 19805279 rs754083915 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805297 19805298 rs752661654 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19805298 19805299 rs138773995 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19805311 19805312 rs533902087 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19805312 19805313 rs558503722 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19805328 19805329 rs866288733 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19805342 19805343 rs141847896 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19805360 19805361 rs544318723 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 ILLUMINA, 0 736 chr21 19805385 19805386 rs188800199 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19805450 19805451 rs181575505 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19805531 19805532 rs186162690 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19805535 19805536 rs563101059 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805567 19805568 rs112550175 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19805568 19805569 rs138989483 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19805577 19805578 rs532013984 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19805625 19805626 rs572954030 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19805705 19805706 rs149910860 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19805707 19805708 rs560765265 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19805729 19805730 rs746890445 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805735 19805736 rs868656812 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19805755 19805756 rs551836388 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19805763 19805764 rs191614391 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19805815 19805816 rs13047075 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.438946 0.163706 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3379.000000,1629.000000, 0.674720,0.325280, maf-5-some-pop,maf-5-all-pops 736 chr21 19805894 19805895 rs537177390 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19805952 19805953 rs527648018 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 736 chr21 19805965 19805966 rs370248779 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19805980 19805981 rs78963505 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19805980 19805980 rs777266965 0 + - - -/AAA genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 EVA_GENOME_DK, 0 736 chr21 19805982 19805983 rs77699793 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19805983 19805984 rs76026823 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19805996 19805996 rs556489438 0 + - - -/G genomic insertion by-frequency,by-1000genomes 0.008747 0.065553 unknown between 1 1 1000GENOMES, 2 -,G, 4986.000000,22.000000, 0.995607,0.004393, 736 chr21 19806002 19806003 rs529814066 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19806003 19806004 rs201951996 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 736 chr21 19806003 19806003 rs58432155 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 HGSV, 0 736 chr21 19806010 19806011 rs13047338 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19806021 19806022 rs7282127 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.209997 0.246779 unknown exact 1 13 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 597.000000,4411.000000, 0.119209,0.880791, maf-5-some-pop,maf-5-all-pops 736 chr21 19806054 19806055 rs73198327 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4837.000000,171.000000, 0.965855,0.034145, maf-5-some-pop 736 chr21 19806120 19806121 rs772789730 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19806133 19806134 rs13046308 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.003588 0.042202 unknown exact 1 10 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,SSAHASNP, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19806161 19806165 rs576413685 0 + TAAT TAAT -/TAAT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,TAAT, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19806200 19806201 rs552292519 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19806211 19806212 rs570508895 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19806218 19806218 rs35420004 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19806226 19806227 rs770681495 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19806239 19806240 rs57820304 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.472616 0.113763 unknown exact 1 12 1000GENOMES,BGI,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 3090.000000,1918.000000, 0.617013,0.382987, maf-5-some-pop 736 chr21 19806317 19806318 rs62215024 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19806365 19806366 rs767745423 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19806369 19806370 rs529556378 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19806372 19806373 rs76213144 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 736 chr21 19806425 19806426 rs538919939 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19806468 19806469 rs148634423 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19806472 19806473 rs142420783 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19806473 19806474 rs572721933 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19806478 19806479 rs761123939 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 736 chr21 19806479 19806480 rs374322036 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19806480 19806481 rs2824829 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.21725 0.247846 unknown exact 1 23 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 621.000000,4387.000000, 0.124002,0.875998, maf-5-some-pop 736 chr21 19806506 19806507 rs564977972 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19806522 19806523 rs114586512 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 1 1000GENOMES, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19806525 19806526 rs371937888 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19806552 19806553 rs753849759 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19806583 19806584 rs757326204 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19806623 19806624 rs544209721 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19806632 19806633 rs562611234 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19806633 19806634 rs9941786 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.079617 0.182947 unknown exact 1 10 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 208.000000,4800.000000, 0.041533,0.958466, maf-5-some-pop 736 chr21 19806646 19806647 rs548219947 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19806677 19806678 rs559906588 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19806697 19806698 rs182537651 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19806715 19806716 rs147930026 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19806802 19806803 rs13051177 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.476227 0.106402 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3050.000000,1958.000000, 0.609026,0.390974, maf-5-some-pop,maf-5-all-pops 736 chr21 19806837 19806838 rs186227786 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19806849 19806850 rs749622776 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19806880 19806892 rs541800919 0 + TATTTACACAAC TATTTACACAAC -/TATTTACACAAC genomic deletion by-frequency,by-1000genomes 0.01388 0.082142 unknown range 1 1 1000GENOMES, 2 -,TATTTACACAAC, 35.000000,4973.000000, 0.006989,0.993011, 736 chr21 19806885 19806886 rs531581323 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19806946 19806947 rs550127843 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19806955 19806956 rs771233035 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19807016 19807017 rs556707126 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19807020 19807021 rs568396736 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19807024 19807025 rs868034157 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19807138 19807138 rs140706200 0 + - - -/CTATTGCTCAT genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19807143 19807143 rs143575553 0 + - - -/CTCATCTATTG genomic insertion by-cluster,by-frequency,by-1000genomes 0.499053 0.021745 unknown between 1 6 1000GENOMES,BILGI_BIOE,DDI,EVA_DECODE,EVA_GENOME_DK,LUNTER, 2 -,CTCATCTATTG, 2613.000000,2395.000000, 0.521765,0.478235, maf-5-some-pop,maf-5-all-pops 736 chr21 19807144 19807144 rs67250488 0 + - - -/CTCATCTATTG genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19807148 19807149 rs868312953 0 + A A A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 736 chr21 19807148 19807148 rs11273539 0 + - - -/CTATTGCTCAT genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 2 BCMHGSC_JDW,HUMANGENOME_JCVI, 1 CTATTGCTCAT, 2.000000, 1.000000, 736 chr21 19807149 19807150 rs866979944 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19807172 19807173 rs536138374 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807184 19807185 rs141897863 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19807188 19807189 rs566234253 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807194 19807198 rs367958498 0 + TTGA TTGA -/TTGA genomic deletion by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TTGA, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19807197 19807201 rs74264949 0 + ATTG ATTG -/ATTG genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 736 chr21 19807265 19807266 rs190950273 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807296 19807297 rs375305303 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19807318 19807319 rs545595579 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19807345 19807346 rs558652885 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19807381 19807382 rs565408437 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19807396 19807397 rs544001727 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002922 0.038112 unknown exact 1 1 1000GENOMES, 2 A,T, 4777.000000,7.000000, 0.998537,0.001463, 736 chr21 19807397 19807397 rs201980204 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.08557 0.188315 unknown between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,LUNTER, 2 -,T, 4777.000000,224.000000, 0.955209,0.044791, maf-5-some-pop 736 chr21 19807404 19807405 rs7510013 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.216649 0.247765 unknown exact 1 9 1000GENOMES,BCM_SSAHASNP,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_JCM,WEILL_CORNELL_DGM, 2 A,T, 619.000000,4389.000000, 0.123602,0.876398, maf-5-some-pop,maf-5-all-pops 736 chr21 19807405 19807406 rs2824830 0 + A A A/C genomic single by-frequency 0.277778 0.248452 unknown exact 1 1 PERLEGEN, 2 A,C, 10.000000,2.000000, 0.833333,0.166667, maf-5-some-pop,maf-5-all-pops 736 chr21 19807406 19807407 rs1974382 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.216649 0.247765 unknown exact 1 10 1000GENOMES,ABI,BCM_SSAHASNP,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 619.000000,4389.000000, 0.123602,0.876398, maf-5-some-pop,maf-5-all-pops 736 chr21 19807411 19807412 rs770321260 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19807513 19807514 rs376287223 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19807547 19807548 rs542103117 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19807589 19807590 rs560017793 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807593 19807594 rs183288327 0 + T T C/T genomic single by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 1 1000GENOMES, 2 C,T, 59.000000,4949.000000, 0.011781,0.988219, 736 chr21 19807598 19807599 rs545617053 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19807615 19807616 rs13047350 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.377385 0.215112 unknown exact 1 14 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3744.000000,1264.000000, 0.747604,0.252396, maf-5-some-pop 736 chr21 19807616 19807617 rs531817863 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807644 19807645 rs550048284 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807689 19807690 rs568441589 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19807704 19807705 rs529276985 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807706 19807707 rs187962378 0 + A A A/G genomic single by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 1 1000GENOMES, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 736 chr21 19807712 19807713 rs3916696 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.216649 0.247765 unknown exact 1 9 1000GENOMES,ABI,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4389.000000,619.000000, 0.876398,0.123602, maf-5-some-pop,maf-5-all-pops 736 chr21 19807725 19807726 rs540009688 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19807761 19807762 rs530125376 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19807775 19807776 rs558359806 0 + T T C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 1 1000GENOMES, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 736 chr21 19807798 19807799 rs570185719 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19807804 19807805 rs3928902 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.216649 0.247765 unknown exact 1 8 1000GENOMES,ABI,EVA-GONL,GMI,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 619.000000,4389.000000, 0.123602,0.876398, maf-5-some-pop,maf-5-all-pops 736 chr21 19807836 19807837 rs9653745 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SC_SNP, 0 736 chr21 19807842 19807843 rs556031505 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19807844 19807845 rs574327312 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_DECODE,EVA_GENOME_DK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19807847 19807848 rs541468962 0 + T T G/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 1 1000GENOMES, 2 G,T, 31.000000,4977.000000, 0.006190,0.993810, 736 chr21 19807883 19807884 rs553614002 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19807913 19807914 rs571988431 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19807931 19807932 rs545727542 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19807957 19807958 rs563930408 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19807981 19807982 rs368008784 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19808026 19808027 rs531454015 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19808055 19808056 rs543854719 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19808069 19808070 rs562053865 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19808089 19808090 rs372319762 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19808109 19808110 rs529255405 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19808110 19808111 rs547835876 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19808147 19808148 rs190489555 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19808151 19808152 rs13050984 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.377187 0.215229 unknown exact 1 13 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3745.000000,1263.000000, 0.747804,0.252196, 736 chr21 19808179 19808180 rs113426842 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.159951 0.233219 unknown exact 1 6 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,GMI,WEILL_CORNELL_DGM, 2 A,G, 4569.000000,439.000000, 0.912340,0.087660, maf-5-some-pop 736 chr21 19808194 19808195 rs187932868 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,WEILL_CORNELL_DGM, 0 736 chr21 19808198 19808199 rs570225795 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19808232 19808233 rs565804439 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19808233 19808234 rs774452300 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_GENOME_DK,WEILL_CORNELL_DGM, 0 736 chr21 19808283 19808284 rs537250074 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 736 chr21 19808317 19808318 rs369864313 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.163237 0.234461 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4559.000000,449.000000, 0.910343,0.089657, maf-5-some-pop,maf-5-all-pops 736 chr21 19808326 19808327 rs372246637 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.163564 0.234582 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4558.000000,450.000000, 0.910144,0.089856, maf-5-some-pop,maf-5-all-pops 736 chr21 19808413 19808414 rs111726345 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 736 chr21 19808425 19808426 rs535202181 0 + G G C/G genomic single by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 1 1000GENOMES, 2 C,G, 41.000000,4967.000000, 0.008187,0.991813, 736 chr21 19808436 19808437 rs56363530 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 unknown exact 1 6 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,HGSV,PADH-LAB_SPU,WEILL_CORNELL_DGM, 2 C,T, 111.000000,4897.000000, 0.022164,0.977835, maf-5-some-pop 736 chr21 19808461 19808462 rs571749604 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19808481 19808482 rs539346104 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19808523 19808524 rs375539479 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19808532 19808533 rs368930962 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA_GENOME_DK,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 0 736 chr21 19808777 19808778 rs148949350 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.209388 0.246679 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,T, 595.000000,4413.000000, 0.118810,0.881190, maf-5-some-pop,maf-5-all-pops 736 chr21 19808789 19808790 rs192975119 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19808793 19808794 rs144826953 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 45.000000,4963.000000, 0.008986,0.991014, 736 chr21 19808815 19808816 rs11088679 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.497855 0.032677 unknown exact 1 14 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 G,T, 2340.000000,2668.000000, 0.467252,0.532748, maf-5-some-pop,maf-5-all-pops 736 chr21 19808859 19808860 rs574027069 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19808931 19808932 rs9798681 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.311369 0.242351 unknown exact 1 8 1000GENOMES,BCMHGSC_JDW,DDI,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4042.000000,966.000000, 0.807109,0.192891, maf-5-some-pop 736 chr21 19808952 19808953 rs111747537 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BCM-HGSC-SUB,BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19809019 19809020 rs570808102 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 1 1000GENOMES, 2 -,G, 39.000000,4969.000000, 0.007788,0.992212, 736 chr21 19809041 19809042 rs113687068 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 736 chr21 19809053 19809054 rs868228802 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19809077 19809078 rs199680077 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.472616 0.113763 unknown exact 1 4 1000GENOMES,GMI,SSMP,WEILL_CORNELL_DGM, 2 C,G, 3090.000000,1918.000000, 0.617013,0.382987, maf-5-some-pop,maf-5-all-pops 736 chr21 19809122 19809123 rs533409582 0 + G G A/G genomic single by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 1 1000GENOMES, 2 A,G, 57.000000,4951.000000, 0.011382,0.988618, 736 chr21 19809147 19809181 rs747107850 0 + GGAAGAATCAATATCGTGAAAATGGCCATACTGC GGAAGAATCAATATCGTGAAAATGGCCATACTGC lengthTooLong genomic in-del by-cluster 0 0 unknown range 1 ObservedTooLong 2 EVA_GENOME_DK,SSMP, 0 736 chr21 19809162 19809165 rs779113520 0 + GTG GTG -/GTG genomic deletion unknown 0 0 unknown range 1 1 EVA_GENOME_DK, 0 736 chr21 19809166 19809197 rs772390193 0 + AAATGGCCATACTGCGGAAGAATCAATATCG AAATGGCCATACTGCGGAAGAATCAATATCG lengthTooLong genomic in-del unknown 0 0 unknown range 1 ObservedTooLong 1 EVA_GENOME_DK, 0 736 chr21 19809168 19809169 rs552056219 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19809196 19809197 rs537049152 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.11228 0.208646 unknown exact 1 3 1000GENOMES,EVA-GONL,PADH-LAB_SPU, 2 A,G, 299.000000,4709.000000, 0.059705,0.940296, maf-5-some-pop 736 chr21 19809260 19809261 rs556743092 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.204803 0.245881 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 4428.000000,580.000000, 0.884185,0.115815, maf-5-some-pop,maf-5-all-pops 736 chr21 19809267 19809268 rs13047954 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 ABI,SSAHASNP, 0 736 chr21 19809321 19809322 rs8126918 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WI_SSAHASNP, 0 736 chr21 19809371 19809372 rs8131178 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WI_SSAHASNP, 0 736 chr21 19809391 19809392 rs10470206 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.163564 0.234582 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,GMI,SC_SNP,WEILL_CORNELL_DGM, 2 C,T, 450.000000,4558.000000, 0.089856,0.910144, maf-5-some-pop 736 chr21 19809452 19809453 rs201644739 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.473081 0.112848 unknown exact 1 4 1000GENOMES,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3085.000000,1923.000000, 0.616014,0.383986, maf-5-some-pop,maf-5-all-pops 736 chr21 19809477 19809478 rs113478445 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 736 chr21 19809482 19809483 rs765828367 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19809486 19809487 rs535168893 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19809488 19809489 rs199933468 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.473081 0.112848 unknown exact 1 4 1000GENOMES,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3085.000000,1923.000000, 0.616014,0.383986, maf-5-some-pop,maf-5-all-pops 736 chr21 19809517 19809518 rs184218944 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19809592 19809593 rs565290691 0 + A A A/G genomic single by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 1 1000GENOMES, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19809593 19809594 rs8134840 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.208474 0.246527 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 592.000000,4416.000000, 0.118211,0.881789, maf-5-some-pop,maf-5-all-pops 736 chr21 19809600 19809601 rs71319690 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 HUMANGENOME_JCVI, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19809622 19809623 rs371339071 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19809629 19809630 rs557999871 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.029116 0.117091 unknown exact 1 3 1000GENOMES,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 A,C, 74.000000,4934.000000, 0.014776,0.985224, 736 chr21 19809640 19809641 rs576281438 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19809663 19809664 rs376111684 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19809669 19809670 rs537381886 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19809707 19809708 rs377731912 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19809722 19809723 rs370159269 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19809724 19809725 rs374901197 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19809759 19809760 rs555254087 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19809767 19809768 rs8131768 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.193028 0.243422 unknown exact 1 6 1000GENOMES,EVA-GONL,HGSV,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 542.000000,4466.000000, 0.108227,0.891773, maf-5-some-pop,maf-5-all-pops 736 chr21 19809781 19809782 rs10470207 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.16618 0.23553 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4550.000000,458.000000, 0.908546,0.091454, maf-5-some-pop 736 chr21 19809791 19809792 rs866247478 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19809792 19809793 rs374902403 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19809796 19809797 rs559134993 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19809802 19809803 rs578040520 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19809824 19809825 rs186554679 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19809838 19809839 rs563979322 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19809842 19809843 rs531096240 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19809873 19809874 rs543346977 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19809879 19809880 rs187384846 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 736 chr21 19809991 19809992 rs200258273 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19810026 19810027 rs368336097 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19810033 19810034 rs60351076 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19810056 19810057 rs372598761 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19810073 19810074 rs375279800 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19810077 19810078 rs112011661 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 736 chr21 19810192 19810193 rs57979146 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.216048 0.247684 unknown exact 1 5 1000GENOMES,GMI,HGSV,SSMP,WEILL_CORNELL_DGM, 2 C,T, 617.000000,4391.000000, 0.123203,0.876797, maf-5-some-pop,maf-5-all-pops 736 chr21 19810197 19810198 rs371235066 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19810204 19810205 rs528664819 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19810217 19810218 rs572389166 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_GENOME_DK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19810218 19810219 rs199873660 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19810235 19810236 rs565456974 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19810291 19810292 rs57513300 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_GENOME_DK,HGSV,SSMP, 0 736 chr21 19810337 19810338 rs150635709 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,EVA-GONL,GMI,HGSV,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 0 736 chr21 19810406 19810407 rs372847015 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19810526 19810527 rs865883910 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19810541 19810542 rs866765259 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19810559 19810560 rs868677689 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19810576 19810577 rs532740863 0 + G G C/G genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 1 1000GENOMES, 2 C,G, 24.000000,4984.000000, 0.004792,0.995208, 736 chr21 19810584 19810585 rs7281102 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.499265 0.019155 unknown exact 1 12 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,DDI,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 2600.000000,2408.000000, 0.519169,0.480831, maf-5-some-pop,maf-5-all-pops 736 chr21 19810589 19810590 rs868042861 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19810641 19810642 rs34393005 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.311369 0.242351 unknown exact 1 10 1000GENOMES,ABI,DDI,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop 736 chr21 19810646 19810647 rs865808398 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19810656 19810657 rs529987894 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19810671 19810672 rs764071240 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19810679 19810680 rs543808544 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19810680 19810681 rs867927954 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19810681 19810682 rs184547571 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19810685 19810688 rs576129132 0 + TAA TAA -/TAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 unknown range 1 3 1000GENOMES,EVA_DECODE,EVA_GENOME_DK, 2 -,TAA, 75.000000,4933.000000, 0.014976,0.985024, 736 chr21 19810690 19810691 rs7276655 0 + T T C/T genomic single by-cluster,by-2hit-2allele 0 0 unknown exact 1 4 BCM_SSAHASNP,EVA-GONL,SSMP,WEILL_CORNELL_DGM, 0 736 chr21 19810711 19810712 rs555677302 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19810742 19810743 rs567420323 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19810757 19810758 rs564353577 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19810758 19810759 rs534820598 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19810771 19810772 rs7281375 0 + C C A/C genomic single by-cluster,by-2hit-2allele,by-1000genomes 0 0 unknown exact 1 7 1000GENOMES,BCM_SSAHASNP,EVA-GONL,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 0 736 chr21 19810835 19810836 rs189335672 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19810840 19810841 rs147512032 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19810920 19810921 rs757077183 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19810923 19810924 rs552064854 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19810935 19810936 rs113159540 0 + C C C/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19810951 19810952 rs59033764 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.157311 0.232183 unknown exact 1 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 431.000000,4577.000000, 0.086062,0.913938, maf-5-some-pop 736 chr21 19810987 19810988 rs575642496 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19811008 19811009 rs79483404 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19811212 19811213 rs772512689 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19811217 19811218 rs10470101 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.155987 0.23165 unknown exact 1 14 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4581.000000,427.000000, 0.914736,0.085264, maf-5-some-pop 736 chr21 19811230 19811231 rs528630492 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19811238 19811239 rs540450487 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19811261 19811262 rs565166985 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19811264 19811265 rs529056907 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19811281 19811282 rs543344838 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19811287 19811288 rs761178845 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19811307 19811308 rs764652427 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19811340 19811341 rs551492996 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19811342 19811343 rs554355887 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 -,A, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19811352 19811353 rs569546085 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19811406 19811407 rs779751937 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19811409 19811410 rs530527821 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19811427 19811428 rs548963652 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19811516 19811517 rs140032925 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19811518 19811519 rs534782779 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19811556 19811557 rs762003391 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19811560 19811561 rs181711798 0 + A A A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19811579 19811580 rs185451754 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19811591 19811592 rs189508597 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19811655 19811656 rs750678643 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19811693 19811694 rs571508573 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19811694 19811695 rs867259889 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19811698 19811699 rs538755736 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19811738 19811741 rs778462128 0 + AGT AGT -/AGT genomic deletion by-cluster 0 0 unknown range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19811806 19811807 rs2824831 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.472709 0.11358 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1919.000000,3089.000000, 0.383187,0.616813, maf-5-some-pop 736 chr21 19811833 19811834 rs73895615 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19811895 19811896 rs543026218 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19811903 19811904 rs181517476 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19812012 19812013 rs113497883 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812131 19812132 rs556938477 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19812185 19812186 rs867341545 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19812196 19812197 rs573180067 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19812223 19812224 rs570431024 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19812231 19812232 rs74402527 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 736 chr21 19812235 19812236 rs370547339 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19812243 19812244 rs755956898 0 + C C A/C/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19812248 19812249 rs200916293 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19812275 19812276 rs577412104 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812290 19812291 rs544729325 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19812292 19812293 rs746103167 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19812297 19812298 rs776908218 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19812309 19812310 rs563404379 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19812336 19812337 rs749204219 0 + G G A/G/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19812356 19812357 rs772244804 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19812360 19812361 rs145683536 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19812372 19812373 rs549021318 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19812373 19812374 rs560893720 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19812380 19812381 rs145387517 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19812391 19812392 rs68022780 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.204189 0.245767 unknown exact 1 11 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 578.000000,4430.000000, 0.115415,0.884585, maf-5-some-pop,maf-5-all-pops 736 chr21 19812393 19812394 rs571422056 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19812412 19812413 rs73325973 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 736 chr21 19812413 19812414 rs866213886 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19812423 19812424 rs550763116 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812451 19812452 rs189721424 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812455 19812456 rs368019843 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19812460 19812461 rs760786660 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19812465 19812466 rs572353101 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19812466 19812467 rs534890243 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19812472 19812473 rs562850000 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19812473 19812474 rs554529511 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812475 19812476 rs572944821 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19812486 19812487 rs112838364 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.212122 0.247114 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 604.000000,4404.000000, 0.120607,0.879393, maf-5-some-pop,maf-5-all-pops 736 chr21 19812501 19812502 rs558826773 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812502 19812503 rs768684952 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19812516 19812517 rs113881075 0 + T T C/T genomic single by-cluster,by-1000genomes 0.5 0 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19812541 19812542 rs543421403 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19812545 19812546 rs563730356 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19812546 19812547 rs373754108 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_DECODE,GMI, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812549 19812551 rs796768852 0 + CA CA CA/TG genomic mnp unknown 0 0 unknown rangeSubstitution 1 FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 736 chr21 19812550 19812551 rs865886780 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19812558 19812559 rs867954373 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19812559 19812560 rs186295366 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 736 chr21 19812562 19812563 rs546318250 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19812580 19812581 rs559583227 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19812621 19812622 rs531550320 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19812636 19812637 rs563207899 0 + T T C/T genomic single by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 1 1000GENOMES, 2 C,T, 50.000000,4958.000000, 0.009984,0.990016, 736 chr21 19812637 19812638 rs575275248 0 + C C A/C genomic single by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 1 1000GENOMES, 2 A,C, 50.000000,4958.000000, 0.009984,0.990016, 736 chr21 19812664 19812665 rs542778045 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812665 19812666 rs528256163 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19812668 19812669 rs13052577 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.311859 0.242226 unknown exact 1 12 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 968.000000,4040.000000, 0.193291,0.806709, maf-5-some-pop 736 chr21 19812689 19812689 rs539968323 0 + - - -/AAAAA/AAAAAAAAAAAA genomic insertion by-cluster 0 0 unknown between 1 2 DDI,SSIP, 0 736 chr21 19812702 19812703 rs79930920 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 5 1000GENOMES,BCM-HGSC-SUB,GMI,ILLUMINA,WEILL_CORNELL_DGM, 0 736 chr21 19812703 19812703 rs557806642 0 + - - -/AAAAG genomic insertion by-cluster 0 0 unknown between 1 2 DDI,SSIP, 0 736 chr21 19812706 19812707 rs372856721 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 MixedObserved 2 BILGI_BIOE,WEILL_CORNELL_DGM, 0 736 chr21 19812706 19812706 rs71191407 0 + - - -/AAAAAAA/AAAAAAAAAAAA/AGAAA genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 3 BCMHGSC_JDW,GMI,HUMANGENOME_JCVI, 1 AAAAAAAAAAAA, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 736 chr21 19812792 19812793 rs372177893 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19812798 19812799 rs140519866 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19812801 19812802 rs565202169 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19812809 19812813 rs144729516 0 + CTAA CTAA -/CTAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 unknown range 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,CTAA, 60.000000,4948.000000, 0.011981,0.988019, 736 chr21 19812810 19812810 rs34927569 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19812811 19812812 rs771561916 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19812812 19812816 rs377325838 0 + ACTA ACTA -/ACTA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19812826 19812827 rs183351208 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19812863 19812864 rs2824832 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.204189 0.245767 unknown exact 1 16 1000GENOMES,AFFY,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 578.000000,4430.000000, 0.115415,0.884585, maf-5-some-pop 736 chr21 19812872 19812873 rs117398702 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 unknown exact 1 5 1000GENOMES,EVA_DECODE,GMI,JMKIDD_LAB,SSMP, 2 C,G, 72.000000,4936.000000, 0.014377,0.985623, maf-5-some-pop 736 chr21 19812913 19812914 rs536743707 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19812922 19812923 rs145666942 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19812939 19812940 rs146732992 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19812988 19812989 rs765995713 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19813000 19813001 rs867159517 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19813058 19813059 rs548319877 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19813061 19813062 rs188765008 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19813118 19813119 rs747432096 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19813148 19813149 rs533939763 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19813161 19813162 rs558789235 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19813181 19813182 rs140323719 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19813207 19813208 rs768987807 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19813220 19813221 rs145437326 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4972.000000,36.000000, 0.992812,0.007188, 736 chr21 19813264 19813265 rs762177315 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19813293 19813294 rs556701421 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19813302 19813302 rs201771293 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 unknown between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,LUNTER,SSMP, 2 -,A, 4899.000000,109.000000, 0.978235,0.021765, maf-5-some-pop 736 chr21 19813358 19813359 rs574974017 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19813363 19813364 rs542698381 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19813379 19813380 rs371801131 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19813406 19813407 rs191667008 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19813454 19813455 rs375618078 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19813470 19813471 rs540255144 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19813476 19813477 rs564758188 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19813524 19813525 rs780796546 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19813532 19813533 rs532423450 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19813561 19813562 rs544223624 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19813587 19813588 rs765371506 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19813592 19813593 rs570470681 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19813595 19813596 rs183129791 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19813598 19813598 rs371605283 0 + - - lengthTooLong genomic in-del by-cluster,by-1000genomes 0.210731 0.260817 unknown between 1 ObservedTooLong 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSIP,SSMP, 4 -,AAACA,AAACAAAACA,AAACAAAACAAAACA, 4426.000000,16.000000,133.000000,433.000000, 0.883786,0.003195,0.026557,0.086462, rs-cluster-nonoverlapping-alleles 736 chr21 19813622 19813623 rs13050671 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.282369 0.247896 unknown exact 1 15 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,SSAHASNP,WEILL_CORNELL_DGM, 2 A,C, 4156.000000,852.000000, 0.829872,0.170128, maf-5-some-pop 736 chr21 19813627 19813628 rs200439869 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19813631 19813631 rs200827085 0 + - - -/C genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 736 chr21 19813634 19813635 rs149536523 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 736 chr21 19813644 19813645 rs780288862 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19813663 19813664 rs527648439 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19813666 19813667 rs546629031 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19813668 19813669 rs187042615 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19813669 19813670 rs552522058 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19813675 19813676 rs201716744 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19813721 19813722 rs143050496 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 22.000000,4986.000000, 0.004393,0.995607, 736 chr21 19813776 19813777 rs747186485 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19813799 19813800 rs148182248 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 736 chr21 19813803 19813804 rs566237038 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19813829 19813830 rs13051021 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.394354 0.204112 unknown exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 3655.000000,1353.000000, 0.729832,0.270168, maf-5-some-pop 736 chr21 19813878 19813879 rs191098771 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 6 1000GENOMES,EVA-GONL,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 52.000000,4956.000000, 0.010383,0.989617, 736 chr21 19813889 19813890 rs761948228 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19813905 19813905 rs569776964 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,A, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19813921 19813922 rs574567589 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 16.000000,4992.000000, 0.003195,0.996805, 736 chr21 19813921 19813929 rs775165672 0 + TCAAAAAA TCAAAAAA -/TCAAAAAA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19813922 19813924 rs750686018 0 + CA CA -/CA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19813922 19813930 rs753503547 0 + CAAAAAAA CAAAAAAA -/CAAAAAAA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19813923 19813931 rs201137705 0 + AAAAAAAA AAAAAAAA -/AAAAAAAA genomic deletion by-cluster 0 0 unknown range 1 3 DDI,GMI,SSMP, 0 736 chr21 19813978 19813990 rs113071625 0 + ATTATTATTATT ATTATTATTATT -/ATTATTATTATT genomic deletion by-cluster,by-1000genomes 0.5 0 unknown range 1 MixedObserved 8 1000GENOMES,BUSHMAN,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,ATTATTATTATT, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19813978 19813987 rs200378175 0 + ATTATTATT ATTATTATT -/ATTATTATT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 GMI,LUNTER, 0 736 chr21 19813978 19813981 rs202111100 0 + ATT ATT -/ATT genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 GMI, 0 736 chr21 19813981 19813981 rs534474526 0 + - - -/ATT genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 736 chr21 19813990 19813990 rs779889728 0 + - - -/ATT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19814011 19814012 rs200600944 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19814029 19814030 rs554678186 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19814030 19814031 rs572955966 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19814038 19814039 rs540365662 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19814043 19814044 rs574766798 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19814045 19814046 rs576813228 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19814048 19814049 rs544445889 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19814080 19814081 rs562646404 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19814142 19814143 rs529803999 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19814155 19814156 rs541641716 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19814161 19814162 rs147370770 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19814211 19814212 rs773178012 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19814222 19814223 rs142797089 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.082176 0.185298 unknown exact 1 10 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 215.000000,4793.000000, 0.042931,0.957069, maf-5-some-pop 736 chr21 19814287 19814288 rs572678328 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19814291 19814292 rs570821998 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19814315 19814316 rs766233991 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19814348 19814349 rs144028908 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19814361 19814362 rs373845028 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19814383 19814384 rs550415031 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19814397 19814398 rs551380987 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19814435 19814436 rs150661131 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,G, 4973.000000,35.000000, 0.993011,0.006989, 736 chr21 19814480 19814481 rs183792816 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19814505 19814506 rs566319725 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19814564 19814565 rs374077458 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19814568 19814568 rs141801377 0 + - - -/GTT genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 2 1000GENOMES,LUNTER, 0 736 chr21 19814580 19814581 rs757086945 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19814632 19814633 rs533873867 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000799 0.01997 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5003.000000, 0.000400,0.999600, 736 chr21 19814633 19814633 rs577220123 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.001198 0.024444 unknown between 1 1 1000GENOMES, 2 -,T, 5003.000000,3.000000, 0.999401,0.000599, 736 chr21 19814656 19814657 rs577212982 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19814669 19814670 rs558375175 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19814684 19814685 rs759203137 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19814689 19814690 rs76009427 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 736 chr21 19814703 19814704 rs537456785 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19814716 19814717 rs745439403 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19814719 19814720 rs187731223 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4966.000000,42.000000, 0.991613,0.008387, 736 chr21 19814732 19814736 rs561672271 0 + TACA TACA -/TACA genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 unknown range 1 1 1000GENOMES, 2 -,TACA, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19814743 19814744 rs140037625 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19814757 19814758 rs193287781 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19814775 19814776 rs114833605 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 4 1000GENOMES,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19814828 19814829 rs571955843 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19814829 19814830 rs546232191 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19814854 19814855 rs564439383 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19814944 19814945 rs149849038 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19814947 19814948 rs185089705 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19814992 19814993 rs2300510 0 - T T A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.235564 0.249583 unknown exact 1 18 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 4325.000000,683.000000, 0.863618,0.136382, maf-5-some-pop,genotype-conflict 736 chr21 19814997 19814998 rs17002656 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.01624 0.088635 unknown exact 1 7 1000GENOMES,AFFY,EVA_SVP,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 41.000000,4967.000000, 0.008187,0.991813, 736 chr21 19815055 19815056 rs559852161 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19815057 19815058 rs2824833 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.193966 0.243639 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 545.000000,4463.000000, 0.108826,0.891174, maf-5-some-pop 736 chr21 19815095 19815096 rs566234202 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815120 19815121 rs539652529 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815157 19815158 rs145710973 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815170 19815171 rs867960679 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19815179 19815180 rs769040956 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815180 19815181 rs570473683 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19815184 19815185 rs139484878 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815195 19815196 rs2250007 0 - C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.350327 0.228986 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 C,G, 3874.000000,1134.000000, 0.773562,0.226438, maf-5-some-pop,maf-5-all-pops 736 chr21 19815214 19815215 rs574135297 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815229 19815230 rs770270374 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815232 19815233 rs535358331 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815242 19815243 rs181794309 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815254 19815255 rs571875405 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19815284 19815285 rs545702242 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19815290 19815291 rs564334813 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815316 19815317 rs576445586 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815331 19815332 rs773752640 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815332 19815333 rs796632851 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19815364 19815365 rs184010231 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815380 19815381 rs866148686 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19815391 19815392 rs762987549 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815396 19815397 rs144312780 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19815402 19815403 rs774742869 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815408 19815409 rs146588026 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 42.000000,4966.000000, 0.008387,0.991613, 736 chr21 19815433 19815434 rs188700535 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815434 19815435 rs560101638 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19815436 19815437 rs2824834 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.158632 0.232706 unknown exact 1 17 1000GENOMES,AFFY,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 435.000000,4573.000000, 0.086861,0.913139, maf-5-some-pop 736 chr21 19815471 19815472 rs141288056 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19815472 19815473 rs763996793 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815478 19815479 rs180878151 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815479 19815479 rs34915266 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19815485 19815486 rs143576427 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19815492 19815493 rs550901447 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19815520 19815521 rs2824835 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.49706 0.038226 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2312.000000,2696.000000, 0.461661,0.538339, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19815521 19815522 rs567670559 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815548 19815549 rs17772298 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.078884 0.182262 unknown exact 1 13 1000GENOMES,BCM-HGSC-SUB,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4802.000000,206.000000, 0.958866,0.041134, maf-5-some-pop 736 chr21 19815561 19815562 rs553621968 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815579 19815580 rs765146363 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815581 19815582 rs750352874 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815623 19815624 rs565814576 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815633 19815634 rs201596932 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19815636 19815637 rs757945810 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815701 19815702 rs140889432 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19815726 19815727 rs557660100 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815761 19815762 rs79086111 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.076682 0.180169 unknown exact 1 12 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 200.000000,4808.000000, 0.039936,0.960064, maf-5-some-pop 736 chr21 19815789 19815790 rs754556399 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815803 19815804 rs150153992 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815804 19815805 rs138393093 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19815810 19815811 rs780818100 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19815841 19815842 rs185437495 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19815856 19815857 rs530526926 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19815857 19815858 rs574046509 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815889 19815890 rs191880975 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19815903 19815904 rs571370141 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19815910 19815911 rs533440721 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19815934 19815934 rs34705289 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19815973 19815974 rs142678248 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19815995 19815996 rs182268428 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816001 19816002 rs8126921 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.098085 0.198549 unknown exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 259.000000,4749.000000, 0.051717,0.948283, maf-5-some-pop 736 chr21 19816035 19816036 rs12483571 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.373799 0.217195 unknown exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3762.000000,1246.000000, 0.751198,0.248802, maf-5-some-pop,maf-5-all-pops 736 chr21 19816050 19816051 rs187234303 0 + G G C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19816080 19816081 rs138520449 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,BL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19816116 19816117 rs771154271 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816117 19816118 rs191664512 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816135 19816136 rs546974408 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816148 19816149 rs183435979 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816154 19816155 rs185457550 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19816163 19816164 rs558037208 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816180 19816181 rs146926345 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19816183 19816184 rs774518186 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816202 19816203 rs113787042 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,BCM-HGSC-SUB,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816242 19816243 rs555867085 0 + A A A/C genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 A,C, 4987.000000,21.000000, 0.995807,0.004193, 736 chr21 19816246 19816247 rs574156742 0 + A A A/C genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 A,C, 4987.000000,21.000000, 0.995807,0.004193, 736 chr21 19816248 19816249 rs541569713 0 + T T C/T genomic single by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 1 1000GENOMES, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 736 chr21 19816263 19816264 rs370383987 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19816314 19816315 rs28414767 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 3 1000GENOMES,SSAHASNP,TISHKOFF, 2 C,T, 41.000000,4967.000000, 0.008187,0.991813, 736 chr21 19816358 19816359 rs772493641 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816361 19816362 rs116934052 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816401 19816402 rs28635933 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 4 1000GENOMES,HAMMER_LAB,SSAHASNP,TISHKOFF, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19816450 19816451 rs564018091 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19816472 19816473 rs2824836 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.183886 0.241099 unknown exact 1 23 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 513.000000,4495.000000, 0.102436,0.897564, maf-5-some-pop 736 chr21 19816483 19816484 rs542790906 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816507 19816508 rs571075151 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19816513 19816514 rs527816805 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19816538 19816539 rs761562404 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816539 19816540 rs190264651 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19816549 19816550 rs528948136 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816555 19816556 rs774219268 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19816558 19816559 rs547138781 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816580 19816581 rs144359130 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19816593 19816594 rs750361499 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816602 19816603 rs182150886 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19816603 19816604 rs762829977 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816605 19816605 rs34966160 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19816610 19816611 rs765876784 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816612 19816613 rs551355560 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816615 19816616 rs569952935 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19816616 19816617 rs751134482 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816621 19816622 rs537368997 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19816642 19816643 rs77639023 0 + C C A/C genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 A, 2.000000, 1.000000, 736 chr21 19816658 19816659 rs186753560 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816684 19816685 rs371082682 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19816691 19816692 rs759396984 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19816714 19816715 rs767331599 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19816716 19816717 rs567507652 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19816772 19816773 rs539793755 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19816774 19816775 rs535117946 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816795 19816796 rs553435246 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816823 19816824 rs547274270 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19816835 19816836 rs7283952 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.174288 0.23826 unknown exact 1 13 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4525.000000,483.000000, 0.903554,0.096446, maf-5-some-pop,maf-5-all-pops 736 chr21 19816841 19816842 rs192411586 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19816855 19816856 rs866103350 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19816882 19816883 rs752359197 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816915 19816916 rs756463946 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19816927 19816928 rs575516362 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19816937 19816938 rs148759427 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19816950 19816951 rs561143602 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816954 19816955 rs183927304 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19816974 19816975 rs75608331 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 4 1000GENOMES,BUSHMAN,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 736 chr21 19817039 19817040 rs763613056 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19817104 19817105 rs13052157 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.341685 0.232581 unknown exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3913.000000,1095.000000, 0.781350,0.218650, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19817110 19817111 rs150895627 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19817167 19817168 rs111487354 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.15665 0.231917 unknown exact 1 13 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 429.000000,4579.000000, 0.085663,0.914337, maf-5-some-pop 736 chr21 19817170 19817171 rs563169764 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19817174 19817175 rs79751789 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4943.000000,65.000000, 0.987021,0.012979, 736 chr21 19817202 19817203 rs375914757 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19817204 19817205 rs549342566 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19817233 19817234 rs772257782 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817275 19817276 rs567420629 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19817286 19817287 rs747216075 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817297 19817298 rs79491590 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 736 chr21 19817329 19817330 rs74677067 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19817335 19817336 rs867968421 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19817392 19817393 rs59548022 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.499992 0.001997 unknown exact 1 18 1000GENOMES,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2494.000000,2514.000000, 0.498003,0.501997, maf-5-some-pop,maf-5-all-pops 736 chr21 19817396 19817397 rs772991758 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817449 19817450 rs78416596 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19817459 19817460 rs766361512 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817467 19817469 rs141702054 0 + TA TA -/TA genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 2 1000GENOMES,LUNTER, 0 736 chr21 19817484 19817485 rs774249314 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817489 19817490 rs139750441 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19817502 19817503 rs372012572 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19817516 19817517 rs373896507 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WARNICH_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19817522 19817525 rs768648658 0 + ATT ATT -/ATT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817522 19817526 rs780596871 0 + ATTT ATTT -/ATTT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817523 19817526 rs71191408 0 + TTT TTT -/TTT genomic deletion unknown 0 0 unknown range 1 MixedObserved,SingleAlleleFreq 7 BILGI_BIOE,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,PJP, 1 -, 2.000000, 1.000000, 736 chr21 19817523 19817524 rs72241108 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.387453 0.208822 unknown exact 1 MixedObserved 2 1000GENOMES,GMI, 2 -,T, 3692.000000,1316.000000, 0.737220,0.262780, maf-5-some-pop,maf-5-all-pops 736 chr21 19817524 19817526 rs772828797 0 + TT TT -/TT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817525 19817526 rs747721882 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817602 19817603 rs144219687 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19817621 19817622 rs759083774 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817646 19817647 rs188819860 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19817650 19817651 rs13052187 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.394721 0.203852 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3653.000000,1355.000000, 0.729433,0.270567, maf-5-some-pop 736 chr21 19817656 19817657 rs565363614 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19817676 19817677 rs13048545 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.394721 0.203852 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1355.000000,3653.000000, 0.270567,0.729433, maf-5-some-pop 736 chr21 19817679 19817680 rs544814492 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19817698 19817699 rs13052644 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.406641 0.194842 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3586.000000,1422.000000, 0.716054,0.283946, maf-5-some-pop 736 chr21 19817724 19817725 rs530522520 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19817724 19817724 rs35370652 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 736 chr21 19817726 19817727 rs542902487 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19817757 19817758 rs764373814 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817781 19817782 rs754324355 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19817798 19817799 rs13052768 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.398714 0.200958 unknown exact 1 21 1000GENOMES,ABI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3631.000000,1377.000000, 0.725040,0.274960, maf-5-some-pop 736 chr21 19817809 19817810 rs9637047 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_DECODE,SC_SNP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19817814 19817815 rs546758634 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19817847 19817848 rs550241118 0 + A A C/T genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 736 chr21 19817873 19817874 rs571393409 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19817923 19817924 rs13048797 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.387642 0.208697 unknown exact 1 21 1000GENOMES,ABI,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1317.000000,3691.000000, 0.262979,0.737021, maf-5-some-pop 736 chr21 19817932 19817933 rs745701498 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19817986 19817987 rs76995131 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 unknown exact 1 4 1000GENOMES,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4925.000000,83.000000, 0.983427,0.016573, maf-5-some-pop 736 chr21 19818008 19818009 rs568872870 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19818014 19818015 rs746346280 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818049 19818050 rs536264809 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19818052 19818053 rs145001289 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19818053 19818054 rs758439948 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818055 19818056 rs149077449 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19818082 19818083 rs534262136 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19818101 19818101 rs34720697 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19818136 19818137 rs867153298 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19818170 19818171 rs193023433 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19818177 19818178 rs572954831 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19818183 19818184 rs142227733 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19818202 19818203 rs775030726 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19818242 19818243 rs373500495 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19818251 19818252 rs112473329 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19818256 19818257 rs768987963 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818282 19818283 rs565191478 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19818284 19818285 rs141415604 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4969.000000,39.000000, 0.992212,0.007788, 736 chr21 19818292 19818293 rs776702332 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818297 19818298 rs749130001 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818304 19818305 rs770680756 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818369 19818370 rs34956481 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.405776 0.195535 unknown exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1417.000000,3591.000000, 0.282947,0.717053, maf-5-some-pop 736 chr21 19818381 19818382 rs542667495 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19818386 19818387 rs146942910 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19818423 19818424 rs763519288 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19818425 19818426 rs528377921 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19818427 19818428 rs184720385 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19818429 19818430 rs568861634 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19818507 19818508 rs540207648 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19818529 19818530 rs370268537 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19818545 19818546 rs13049000 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.314544 0.241524 unknown exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4029.000000,979.000000, 0.804513,0.195487, maf-5-some-pop 736 chr21 19818595 19818596 rs766948033 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818612 19818613 rs550916381 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19818619 19818620 rs761299848 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19818623 19818624 rs532214353 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19818639 19818640 rs9976824 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.178785 0.239642 unknown exact 1 17 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4511.000000,497.000000, 0.900759,0.099241, maf-5-some-pop 736 chr21 19818657 19818658 rs529788597 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19818701 19818702 rs569029225 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19818702 19818703 rs760260539 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19818730 19818731 rs540170592 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19818734 19818735 rs760101527 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818742 19818743 rs530159867 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19818750 19818751 rs6517814 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.406296 0.19512 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 3588.000000,1420.000000, 0.716454,0.283546, maf-5-some-pop 736 chr21 19818765 19818766 rs115641986 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 736 chr21 19818792 19818793 rs796451637 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19818850 19818851 rs534505530 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19818897 19818898 rs558991644 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19818916 19818917 rs570985434 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19818942 19818943 rs753522822 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818943 19818944 rs566921640 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19818987 19818988 rs765658063 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19819000 19819001 rs538072710 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19819002 19819003 rs557065304 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19819012 19819013 rs752873914 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19819015 19819016 rs6517815 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.406123 0.195258 unknown exact 1 26 1000GENOMES,BCM_SSAHASNP,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 1419.000000,3589.000000, 0.283347,0.716653, maf-5-some-pop,genotype-conflict 736 chr21 19819035 19819036 rs555859177 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19819081 19819082 rs542784333 0 + A A A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19819089 19819090 rs137897802 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19819091 19819092 rs780418721 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19819102 19819103 rs188604786 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19819116 19819117 rs35127420 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 MixedObserved 16 1000GENOMES,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19819116 19819117 rs111750684 0 + T T A/T genomic single by-cluster 0.5 0 unknown exact 1 MixedObserved 2 BUSHMAN,GMI, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19819118 19819119 rs200790551 0 + T T G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 736 chr21 19819118 19819119 rs397867798 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 2 ABI,HGSV, 0 736 chr21 19819156 19819157 rs868679629 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19819162 19819163 rs540479444 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19819174 19819175 rs191861959 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19819217 19819218 rs576939278 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 36.000000,4972.000000, 0.007188,0.992812, 736 chr21 19819221 19819222 rs35224323 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.474634 0.109726 unknown exact 1 MixedObserved 13 1000GENOMES,BGI,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 3068.000000,1940.000000, 0.612620,0.387380, maf-5-some-pop,maf-5-all-pops 736 chr21 19819221 19819222 rs201471481 0 + A A A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 736 chr21 19819226 19819227 rs397867818 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 2 ABI,HGSV, 0 736 chr21 19819239 19819240 rs747170785 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19819241 19819242 rs543978880 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19819242 19819243 rs562374336 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19819261 19819262 rs530127308 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19819261 19819261 rs34072065 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 736 chr21 19819378 19819379 rs557692810 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19819498 19819499 rs548325190 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19819500 19819501 rs560452928 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19819509 19819510 rs527696030 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19819562 19819563 rs113764869 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19819570 19819571 rs552802447 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19819578 19819579 rs571081204 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19819587 19819588 rs567495279 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,C, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19819618 19819619 rs8131957 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WI_SSAHASNP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19819626 19819627 rs568717727 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19819660 19819661 rs748325759 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19819681 19819682 rs540176078 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19819682 19819683 rs376887639 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19819715 19819716 rs554713046 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19819735 19819736 rs572762045 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19819776 19819777 rs377400251 0 + G G A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BILGI_BIOE, 0 736 chr21 19819776 19819776 rs57558994 0 + - - -/A/AA/AAA genomic insertion by-cluster 0 0 unknown between 1 MixedObserved,SingleAlleleFreq 3 HGSV,HUMANGENOME_JCVI,PJP, 1 AAA, 2.000000, 1.000000, rs-cluster-nonoverlapping-alleles 736 chr21 19819786 19819787 rs533573336 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19819795 19819796 rs558549162 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19819801 19819802 rs150107080 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19819883 19819884 rs13046294 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.314544 0.241524 unknown exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4029.000000,979.000000, 0.804513,0.195487, maf-5-some-pop 736 chr21 19819886 19819887 rs528811366 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19819895 19819896 rs184251917 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19819946 19819947 rs374718606 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19819984 19819985 rs114961437 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,T, 4951.000000,57.000000, 0.988618,0.011382, 736 chr21 19819986 19819987 rs116615187 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 736 chr21 19819997 19819998 rs745794530 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19819999 19820000 rs373528702 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19820004 19820005 rs138900824 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,T, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19820006 19820007 rs77997640 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4952.000000,56.000000, 0.988818,0.011182, 736 chr21 19820020 19820021 rs564539789 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820033 19820034 rs532039814 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820078 19820079 rs775278706 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820079 19820080 rs760284392 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820085 19820086 rs149413649 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19820086 19820087 rs4816774 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.368733 0.220005 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 20 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1221.000000,3787.000000, 0.243810,0.756190, maf-5-some-pop,maf-5-all-pops 736 chr21 19820091 19820092 rs536070107 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820111 19820112 rs761509501 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820126 19820127 rs548238433 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820131 19820131 rs553701580 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown between 1 2 1000GENOMES,HAMMER_LAB, 2 -,T, 4953.000000,55.000000, 0.989018,0.010982, 736 chr21 19820137 19820138 rs566421304 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820138 19820138 rs372026969 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 TISHKOFF, 0 736 chr21 19820212 19820213 rs4818412 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.459118 0.137002 unknown exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 3220.000000,1788.000000, 0.642971,0.357029, maf-5-some-pop,maf-5-all-pops 736 chr21 19820238 19820239 rs750752820 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820247 19820248 rs558255284 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19820257 19820258 rs551138668 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820265 19820266 rs144775163 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19820295 19820296 rs556050342 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820325 19820326 rs570997212 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820338 19820339 rs189310460 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19820347 19820348 rs541645766 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820351 19820352 rs180890656 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19820362 19820363 rs755116818 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820364 19820365 rs781195084 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820376 19820377 rs187196579 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19820377 19820378 rs756260028 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820415 19820416 rs777969529 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820428 19820429 rs190571214 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820429 19820430 rs867514114 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19820453 19820454 rs181512033 0 + G G A/G genomic single by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 1 1000GENOMES, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19820468 19820469 rs78992403 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 736 chr21 19820500 19820501 rs544094660 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820528 19820529 rs562387853 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820582 19820583 rs529639917 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820603 19820604 rs138503296 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19820619 19820620 rs535816973 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820631 19820632 rs143052582 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 736 chr21 19820651 19820652 rs186002642 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19820655 19820656 rs780083967 0 + A A A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820695 19820696 rs190022206 0 + T T A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19820698 19820699 rs146063875 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19820715 19820716 rs768304810 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820724 19820725 rs536703746 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19820810 19820811 rs776224052 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19820815 19820816 rs371896211 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19820844 19820845 rs537464802 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820845 19820846 rs556013700 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19820900 19820901 rs567992905 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19820916 19820917 rs113532741 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19821013 19821014 rs536067740 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19821016 19821017 rs78694102 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.190833 0.242898 unknown exact 1 15 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4473.000000,535.000000, 0.893171,0.106829, maf-5-some-pop 736 chr21 19821025 19821026 rs140001724 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19821065 19821066 rs200997278 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19821070 19821071 rs200476210 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.412416 0.190055 unknown exact 1 MixedObserved 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP,TISHKOFF, 2 -,G, 1456.000000,3552.000000, 0.290735,0.709265, maf-5-some-pop 736 chr21 19821070 19821071 rs545935661 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19821070 19821070 rs757273007 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 DDI, 0 736 chr21 19821121 19821122 rs374014351 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19821258 19821259 rs576475938 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821261 19821262 rs182436342 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19821266 19821267 rs117100034 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 736 chr21 19821346 19821347 rs562097307 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821370 19821371 rs529599447 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821374 19821375 rs541753635 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821375 19821376 rs559645840 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821426 19821427 rs533584772 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19821428 19821429 rs186408167 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19821466 19821467 rs9974922 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.191775 0.243125 unknown exact 1 15 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4470.000000,538.000000, 0.892572,0.107428, maf-5-some-pop 736 chr21 19821541 19821542 rs190882729 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821580 19821581 rs549351204 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19821596 19821597 rs567759587 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821608 19821609 rs752125916 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19821623 19821624 rs866513764 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19821626 19821627 rs76134002 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 736 chr21 19821647 19821648 rs182594553 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19821682 19821683 rs75417250 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19821733 19821734 rs62215026 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 9 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19821739 19821740 rs79002012 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.098085 0.198549 unknown exact 1 14 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 259.000000,4749.000000, 0.051717,0.948283, maf-5-some-pop 736 chr21 19821778 19821779 rs142360854 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821783 19821784 rs150841362 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19821867 19821868 rs542195838 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19821870 19821871 rs189055722 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19821900 19821901 rs573978347 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19821901 19821902 rs541325512 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821911 19821912 rs114373357 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 6 1000GENOMES,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19821916 19821917 rs756176197 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19821922 19821923 rs139297629 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 C,G, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19821929 19821930 rs545562983 0 + T T A/C/T genomic single by-frequency,by-1000genomes 0.002394 0.03453 unknown exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 A,C,T, 3.000000,3.000000,5002.000000, 0.000599,0.000599,0.998802, 736 chr21 19821932 19821933 rs531296506 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821958 19821959 rs549512189 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19821965 19821966 rs561306853 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19821966 19821967 rs149726065 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19821987 19821988 rs753980041 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19821988 19821989 rs758248136 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822071 19822080 rs149222115 0 + TCTTCACAG TCTTCACAG -/TCTTCACAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown range 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,TCTTCACAG, 33.000000,4975.000000, 0.006589,0.993411, 736 chr21 19822088 19822089 rs544560768 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19822102 19822103 rs141480545 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19822115 19822116 rs758430127 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19822121 19822122 rs576078362 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822136 19822137 rs193144918 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19822156 19822157 rs539384340 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19822173 19822177 rs775462178 0 + CAAA CAAA -/CAAA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822176 19822180 rs763969415 0 + ACAC ACAC -/ACAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822178 19822180 rs760464791 0 + AC AC -/AC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822193 19822194 rs551591207 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19822194 19822195 rs62215027 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 6 BCMHGSC_JDW,BL,BUSHMAN,ENSEMBL,GMI,WEILL_CORNELL_DGM, 1 A, 3.000000, 1.000000, 736 chr21 19822195 19822197 rs3082204 0 + CA CA -/CA genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 6 1000GENOMES,BILGI_BIOE,GMI,HAMMER_LAB,LUNTER,PJP, 0 736 chr21 19822196 19822197 rs73198342 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.495483 0.047309 unknown exact 1 5 1000GENOMES,BL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 A,G, 2742.000000,2266.000000, 0.547524,0.452476, maf-5-some-pop,maf-5-all-pops 736 chr21 19822198 19822199 rs867830316 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19822214 19822220 rs764924453 0 + ACACCT ACACCT -/ACACCT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822214 19822217 rs775932034 0 + ACA ACA -/ACA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822215 19822217 rs397799424 0 + CA CA -/CA genomic deletion unknown 0 0 unknown range 1 2 ABI,TSC-CSHL, 0 736 chr21 19822216 19822217 rs9305868 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.049812 0.149749 unknown exact 1 MixedObserved 7 1000GENOMES,GMI,HAMMER_LAB,ILLUMINA,SSAHASNP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4880.000000,128.000000, 0.974441,0.025559, maf-5-some-pop 736 chr21 19822216 19822218 rs372283884 0 + AC AC -/AC genomic deletion unknown 0 0 unknown range 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 736 chr21 19822258 19822259 rs781273031 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822274 19822275 rs570645746 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 -,A, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19822312 19822313 rs182948642 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19822346 19822347 rs555910042 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19822354 19822355 rs573920400 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19822394 19822395 rs75851248 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19822427 19822428 rs553123477 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19822456 19822457 rs578185880 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19822467 19822468 rs147563102 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 70.000000,4938.000000, 0.013978,0.986022, 736 chr21 19822475 19822476 rs563537747 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19822491 19822492 rs769396019 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822519 19822520 rs374774772 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19822548 19822549 rs9977195 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.191775 0.243125 unknown exact 1 15 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 538.000000,4470.000000, 0.107428,0.892572, maf-5-some-pop 736 chr21 19822554 19822555 rs9977196 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.191775 0.243125 unknown exact 1 15 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 538.000000,4470.000000, 0.107428,0.892572, maf-5-some-pop 736 chr21 19822563 19822564 rs187410362 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19822582 19822582 rs201670815 0 + - - -/G genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 736 chr21 19822583 19822584 rs78492274 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.172674 0.237741 unknown exact 1 13 1000GENOMES,BL,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 478.000000,4530.000000, 0.095447,0.904553, maf-5-some-pop 736 chr21 19822593 19822593 rs5842694 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 736 chr21 19822619 19822620 rs559123442 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19822623 19822624 rs192210910 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19822635 19822636 rs552871628 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19822686 19822687 rs111695108 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.043347 0.140692 unknown exact 1 11 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 111.000000,4897.000000, 0.022164,0.977835, maf-5-some-pop 736 chr21 19822706 19822707 rs556452655 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19822713 19822714 rs9977941 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.091253 0.193131 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 240.000000,4768.000000, 0.047923,0.952077, maf-5-some-pop 736 chr21 19822722 19822723 rs549474091 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19822769 19822770 rs183999342 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,C, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19822781 19822782 rs764122926 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822838 19822839 rs754112892 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822839 19822840 rs8129824 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.191461 0.24305 unknown exact 1 19 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 537.000000,4471.000000, 0.107228,0.892772, maf-5-some-pop 736 chr21 19822844 19822844 rs34406672 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19822875 19822876 rs553323203 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19822882 19822883 rs766201740 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822910 19822911 rs571599199 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19822929 19822930 rs751378720 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822951 19822952 rs538900438 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19822963 19822964 rs754796514 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822976 19822977 rs781317520 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19822991 19822992 rs149024121 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 25.000000,4983.000000, 0.004992,0.995008, 736 chr21 19823006 19823006 rs11411851 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.191147 0.242974 unknown between 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 4472.000000,536.000000, 0.892971,0.107029, maf-5-some-pop 736 chr21 19823013 19823014 rs145114002 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 BL, 0 736 chr21 19823014 19823015 rs149573688 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BL, 0 736 chr21 19823016 19823017 rs142785370 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 BL, 0 736 chr21 19823031 19823032 rs745830453 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19823037 19823038 rs571416404 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19823044 19823045 rs575405015 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19823059 19823060 rs143019613 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823080 19823081 rs372954809 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19823085 19823086 rs189581434 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19823086 19823087 rs192706223 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19823102 19823103 rs540813323 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823110 19823110 rs35252579 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19823159 19823160 rs62215053 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 48.000000,4960.000000, 0.009585,0.990415, 736 chr21 19823191 19823192 rs532964348 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823195 19823196 rs148227817 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4986.000000,22.000000, 0.995607,0.004393, 736 chr21 19823199 19823200 rs748971187 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823274 19823275 rs78309520 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,GMI, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19823283 19823284 rs770552500 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823286 19823287 rs8134770 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.191147 0.242974 unknown exact 1 18 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 4472.000000,536.000000, 0.892971,0.107029, maf-5-some-pop 736 chr21 19823304 19823305 rs370931622 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823307 19823308 rs567390756 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823318 19823319 rs528585349 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823326 19823330 rs71904751 0 + AATT AATT -/AATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.280256 0.248162 unknown range 1 DuplicateObserved 10 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,AATT, 844.000000,4164.000000, 0.168530,0.831470, maf-5-some-pop 736 chr21 19823326 19823326 rs778994932 0 + - - -/AATT genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 DDI, 0 736 chr21 19823329 19823330 rs2824837 0 + T T C/T genomic single by-submitter,by-hapmap 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 2 HAMMER_LAB,PERLEGEN, 1 T, 298.000000, 1.000000, maf-5-some-pop,maf-5-all-pops 736 chr21 19823329 19823333 rs35723924 0 + TAAT TAAT -/TAAT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved,SingleAlleleFreq 4 ABI,HUMANGENOME_JCVI,PJP,TISHKOFF, 1 -, 2.000000, 1.000000, 736 chr21 19823365 19823366 rs546781821 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19823395 19823397 rs61186551 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 736 chr21 19823396 19823397 rs34100738 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 736 chr21 19823396 19823397 rs184513389 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 MixedObserved 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19823397 19823398 rs538668757 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4979.000000,29.000000, 0.994209,0.005791, 736 chr21 19823397 19823397 rs200623545 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 736 chr21 19823411 19823412 rs866839271 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19823412 19823413 rs556964347 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19823416 19823417 rs2065240 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.086546 0.189163 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4781.000000,227.000000, 0.954673,0.045327, maf-5-some-pop 736 chr21 19823477 19823478 rs377730767 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 736 chr21 19823482 19823483 rs865812379 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19823524 19823525 rs190571412 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19823528 19823529 rs575903636 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823572 19823573 rs573359132 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19823582 19823583 rs545001879 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823584 19823585 rs8134190 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.193028 0.243422 unknown exact 1 17 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 542.000000,4466.000000, 0.108227,0.891773, maf-5-some-pop 736 chr21 19823617 19823618 rs572196113 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19823624 19823625 rs145840609 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19823660 19823662 rs140794345 0 + TC TC -/TC genomic deletion by-cluster,by-frequency,by-1000genomes 0.11228 0.208646 unknown range 1 DuplicateObserved 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,TC, 299.000000,4709.000000, 0.059705,0.940296, maf-5-some-pop 736 chr21 19823660 19823660 rs750536330 0 + - - -/TC genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 DDI, 0 736 chr21 19823661 19823663 rs113351836 0 + CT CT -/CT genomic deletion by-cluster 0.5 0 unknown range 1 2 BUSHMAN,TISHKOFF, 2 -,CT, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19823688 19823689 rs761951956 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823691 19823692 rs73895620 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 4 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 40.000000,4968.000000, 0.007987,0.992013, 736 chr21 19823699 19823700 rs563601086 0 + C C -/C genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 -,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19823702 19823702 rs763949920 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 736 chr21 19823724 19823725 rs765437815 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823726 19823726 rs560700697 0 + - - -/AT genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 736 chr21 19823742 19823743 rs750640460 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823743 19823744 rs766381340 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19823757 19823758 rs796251086 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19823787 19823788 rs181974427 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19823817 19823818 rs563308981 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19823822 19823823 rs76009173 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.11228 0.208646 unknown exact 1 15 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 299.000000,4709.000000, 0.059705,0.940296, maf-5-some-pop 736 chr21 19823824 19823825 rs186358236 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19823843 19823844 rs767368228 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823874 19823875 rs752691122 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823875 19823876 rs143066509 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19823888 19823889 rs528284850 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823904 19823905 rs73198346 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19823907 19823908 rs571627710 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19823912 19823913 rs188810617 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19823924 19823925 rs146143745 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19823961 19823962 rs756048938 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19823983 19823983 rs781644732 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824009 19824010 rs777761355 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824030 19824031 rs74942067 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.103794 0.20279 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 15 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4733.000000,275.000000, 0.945088,0.054912, maf-5-some-pop 736 chr21 19824033 19824034 rs73895621 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19824048 19824049 rs563198338 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824049 19824050 rs9984243 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.193028 0.243422 unknown exact 1 16 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 542.000000,4466.000000, 0.108227,0.891773, maf-5-some-pop 736 chr21 19824051 19824052 rs772448292 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824060 19824061 rs567017561 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19824070 19824071 rs574634894 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 736 chr21 19824071 19824072 rs569988618 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19824076 19824077 rs538604333 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP,WEILL_CORNELL_DGM, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19824077 19824078 rs559136983 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19824146 19824147 rs577800357 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824169 19824170 rs538782002 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19824190 19824214 rs140029480 0 + GCATGCATAAGACATGCATGACAT GCATGCATAAGACATGCATGACAT -/GCATGCATAAGACATGCATGACAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.153 0.230415 unknown range 1 7 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER, 2 -,GCATGCATAAGACATGCATGACAT, 418.000000,4590.000000, 0.083467,0.916534, maf-5-some-pop 736 chr21 19824191 19824192 rs556993534 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19824210 19824211 rs747522688 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824219 19824220 rs115289559 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19824232 19824233 rs542868789 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19824255 19824256 rs769113315 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824256 19824257 rs551766541 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19824264 19824265 rs149359236 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19824265 19824266 rs573119432 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824321 19824322 rs181578310 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19824325 19824326 rs112582193 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.11228 0.208646 unknown exact 1 13 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 299.000000,4709.000000, 0.059705,0.940296, maf-5-some-pop 736 chr21 19824345 19824346 rs186320018 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19824349 19824350 rs144665519 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19824351 19824352 rs73895623 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 4 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 736 chr21 19824370 19824371 rs374103306 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19824371 19824372 rs867689658 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19824378 19824379 rs769875995 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824391 19824392 rs547181708 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19824406 19824407 rs868558101 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19824425 19824426 rs2824838 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.495445 0.047506 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2743.000000,2265.000000, 0.547724,0.452276, maf-5-some-pop,maf-5-all-pops 736 chr21 19824467 19824468 rs530053805 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824478 19824479 rs2824839 0 + C C A/C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.496421 0.07165 unknown exact 1 SingleClassTriAllelic 27 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 2812.000000,2173.000000,23.000000, 0.561502,0.433906,0.004593, maf-5-some-pop 736 chr21 19824479 19824480 rs767423676 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824492 19824493 rs148545891 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19824495 19824496 rs8130386 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.206947 0.246265 unknown exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 587.000000,4421.000000, 0.117212,0.882788, maf-5-some-pop 736 chr21 19824509 19824510 rs571106862 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19824510 19824511 rs770313103 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19824530 19824531 rs866828604 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19824550 19824551 rs141887305 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19824558 19824559 rs191380040 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19824573 19824574 rs147407143 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824580 19824581 rs139616112 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19824586 19824587 rs554583036 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19824611 19824612 rs573044999 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824651 19824652 rs540567263 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19824654 19824655 rs564688755 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19824656 19824657 rs113923551 0 + A A A/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19824675 19824676 rs760504797 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824681 19824682 rs576634258 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19824692 19824693 rs796151694 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19824718 19824719 rs569952796 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19824719 19824720 rs180866332 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19824746 19824747 rs369886104 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19824747 19824748 rs548275957 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19824767 19824768 rs560577687 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824792 19824793 rs13051249 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.382085 0.212258 unknown exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1288.000000,3720.000000, 0.257188,0.742812, maf-5-some-pop,maf-5-all-pops 736 chr21 19824801 19824802 rs756749852 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824802 19824803 rs552907780 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824839 19824840 rs866692799 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19824840 19824841 rs571016522 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19824900 19824901 rs374692259 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19824904 19824905 rs558616025 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824905 19824906 rs572153458 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824918 19824919 rs550668788 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19824941 19824942 rs369097583 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19824961 19824962 rs568842984 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19824963 19824964 rs779681122 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824979 19824980 rs747434274 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19824982 19824983 rs536386281 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19824998 19824999 rs554265147 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19825003 19825004 rs139611655 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19825014 19825015 rs116718324 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4944.000000,64.000000, 0.987220,0.012780, 736 chr21 19825018 19825019 rs558441200 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19825029 19825030 rs114578151 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 64.000000,4944.000000, 0.012780,0.987220, 736 chr21 19825049 19825050 rs554401653 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19825068 19825069 rs186056252 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19825082 19825083 rs200599193 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 1 ILLUMINA, 0 736 chr21 19825083 19825083 rs5842695 0 + - - -/ATTTT/ATTTTA/ATTTTT/TATTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.091975 0.193722 unknown between 1 InconsistentAlleles 11 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,ATTTTA, 242.000000,4766.000000, 0.048323,0.951677, maf-5-some-pop,rs-cluster-nonoverlapping-alleles 736 chr21 19825084 19825084 rs34268138 0 + - - -/ATTTT genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19825086 19825086 rs72550100 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 BGI, 0 736 chr21 19825087 19825088 rs140525255 0 + A A A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 2 BL,GMI, 0 736 chr21 19825087 19825087 rs3082206 0 + - - -/TATTT genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 5 BCMHGSC_JDW,GMI,HGSV,TISHKOFF,TSC-CSHL, 0 736 chr21 19825088 19825089 rs146601068 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 BL, 0 736 chr21 19825093 19825094 rs201585787 0 - C C A/G genomic single by-cluster 0 0 unknown exact 1 1 ILLUMINA, 0 736 chr21 19825153 19825154 rs555977080 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19825247 19825248 rs748636181 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19825268 19825269 rs377317274 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19825270 19825271 rs189922851 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19825280 19825281 rs373333995 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19825308 19825309 rs149679115 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19825329 19825330 rs201944417 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19825330 19825331 rs543215421 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19825399 19825400 rs207477760 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 736 chr21 19825403 19825404 rs773355054 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19825409 19825410 rs146998106 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 7 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19825417 19825418 rs62215054 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 8 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19825425 19825426 rs545059628 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19825440 19825441 rs550387199 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19825441 19825442 rs760426106 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19825459 19825460 rs564980747 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19825469 19825470 rs187924725 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19825505 19825506 rs763912196 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19825514 19825515 rs145457140 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19825555 19825556 rs548273012 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19825568 19825569 rs75296193 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.184203 0.241186 unknown exact 1 15 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 514.000000,4494.000000, 0.102636,0.897364, maf-5-some-pop 736 chr21 19825597 19825598 rs868392024 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19825613 19825614 rs372422071 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19825626 19825627 rs148853461 0 + G G A/G genomic single by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 1 1000GENOMES, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 736 chr21 19825694 19825695 rs761752077 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19825702 19825706 rs535404423 0 + TGTG TGTG -/TGTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TGTG, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19825707 19825708 rs764735591 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19825736 19825737 rs112931059 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 BCM-HGSC-SUB, 0 736 chr21 19825741 19825742 rs11909231 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.492727 0.059863 unknown exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2806.000000,2202.000000, 0.560304,0.439696, maf-5-some-pop,maf-5-all-pops 736 chr21 19825795 19825796 rs570400492 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19825840 19825841 rs537790215 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19825886 19825887 rs145301625 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19825994 19825995 rs146614106 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19826006 19826007 rs766071003 0 + A A A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19826027 19826028 rs754804133 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19826045 19826046 rs541918194 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19826062 19826063 rs77213481 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 66.000000,4942.000000, 0.013179,0.986821, maf-5-some-pop 736 chr21 19826114 19826115 rs558620027 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19826152 19826153 rs190450715 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19826177 19826178 rs755878120 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19826232 19826233 rs781558973 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19826275 19826276 rs141330382 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19826311 19826312 rs145099421 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19826320 19826321 rs532038031 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19826374 19826375 rs183194631 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19826412 19826413 rs756711103 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19826424 19826425 rs562100136 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19826442 19826443 rs148383410 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19826496 19826497 rs749427396 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19826516 19826517 rs368553697 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 TISHKOFF,WEILL_CORNELL_DGM, 0 736 chr21 19826526 19826527 rs538956604 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 736 chr21 19826577 19826578 rs377700103 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19826578 19826579 rs546661078 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19826586 19826587 rs558576100 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19826591 19826592 rs28515489 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 unknown exact 1 5 1000GENOMES,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop 736 chr21 19826606 19826607 rs756809761 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19826607 19826608 rs572024203 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSIP, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 736 chr21 19826610 19826611 rs28627767 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 unknown exact 1 5 1000GENOMES,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop 736 chr21 19826673 19826674 rs141572940 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 736 chr21 19826690 19826691 rs778695416 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19826730 19826730 rs761685517 0 + - - -/AT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19826737 19826738 rs570161420 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19826802 19826803 rs774747128 0 + C C A/C/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19826803 19826804 rs150413089 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA-GONL,GMI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19826857 19826858 rs550062104 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19826891 19826892 rs1155776 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.094137 0.195465 unknown exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 248.000000,4760.000000, 0.049521,0.950479, maf-5-some-pop 736 chr21 19826892 19826893 rs138119413 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19826901 19826902 rs553713756 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19826947 19826948 rs572560658 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19826983 19826984 rs534602517 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19826993 19826994 rs8132179 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.095216 0.196321 unknown exact 1 11 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 251.000000,4757.000000, 0.050120,0.949880, maf-5-some-pop 736 chr21 19827001 19827002 rs558137449 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19827040 19827041 rs576514076 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19827080 19827081 rs544092614 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19827113 19827114 rs761513219 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19827132 19827133 rs554663938 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19827213 19827214 rs765221342 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19827215 19827216 rs188224751 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19827233 19827234 rs149589297 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19827250 19827251 rs541595304 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19827256 19827257 rs762491942 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19827353 19827354 rs778221927 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19827367 19827368 rs147264503 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19827378 19827382 rs745382411 0 + AGTG AGTG -/AGTG genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19827414 19827415 rs527383344 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19827418 19827419 rs574491475 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19827424 19827425 rs551861939 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19827479 19827480 rs192772983 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19827497 19827498 rs769346664 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19827537 19827538 rs542824464 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 736 chr21 19827549 19827550 rs111796719 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19827573 19827574 rs531222003 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19827579 19827580 rs765824781 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19827636 19827637 rs73895624 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 4 1000GENOMES,BUSHMAN,ILLUMINA-UK,JMKIDD_LAB, 2 A,G, 4969.000000,39.000000, 0.992212,0.007788, 736 chr21 19827640 19827641 rs751182218 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19827643 19827644 rs140799701 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19827651 19827652 rs535420057 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19827666 19827667 rs777257248 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19827730 19827731 rs547564754 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19827731 19827732 rs565883471 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19827737 19827738 rs143658158 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,SSMP,WARNICH_LAB,WEILL_CORNELL_DGM, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19827746 19827747 rs754588770 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19827769 19827770 rs558299057 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19827774 19827775 rs556744161 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19827792 19827793 rs147192150 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19827811 19827812 rs576474028 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19827833 19827834 rs767068764 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19827852 19827853 rs538057283 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19827864 19827865 rs112231848 0 + A A -/A genomic deletion unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19827887 19827888 rs2300509 0 - T T A/G genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 YUSUKE, 1 A, 418.000000, 1.000000, 736 chr21 19827971 19827972 rs148701822 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19828001 19828002 rs545343006 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19828014 19828015 rs541166268 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19828052 19828053 rs756524362 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19828075 19828075 rs34066201 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19828087 19828088 rs778463869 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19828153 19828154 rs555509332 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19828156 19828157 rs574263889 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828190 19828191 rs773590137 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19828207 19828208 rs17772328 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,PERLEGEN,WEILL_CORNELL_DGM, 2 G,T, 4979.000000,29.000000, 0.994209,0.005791, 736 chr21 19828217 19828218 rs553106688 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19828222 19828224 rs373027688 0 + GC GC -/GC genomic deletion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 2 1000GENOMES,SSMP, 2 -,GC, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19828252 19828253 rs577828024 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19828338 19828339 rs115151994 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 736 chr21 19828462 19828463 rs142199066 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4944.000000,64.000000, 0.987220,0.012780, 736 chr21 19828488 19828489 rs151144657 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19828521 19828522 rs527640982 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19828551 19828552 rs369775033 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19828557 19828558 rs184376405 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19828568 19828569 rs543392018 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19828625 19828626 rs561574114 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19828641 19828642 rs529139791 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828644 19828645 rs766483508 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19828645 19828646 rs561200210 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19828650 19828651 rs547384603 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828675 19828676 rs530242715 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19828730 19828731 rs565844751 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828740 19828741 rs187511192 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828748 19828749 rs775564792 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19828770 19828771 rs114001493 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 C,G, 31.000000,4977.000000, 0.006190,0.993810, 736 chr21 19828820 19828821 rs774359409 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19828831 19828832 rs748026990 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19828840 19828854 rs772968180 0 + ACCTGAAGAGGGCT ACCTGAAGAGGGCT -/ACCTGAAGAGGGCT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19828841 19828842 rs570147168 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828842 19828843 rs537188468 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828886 19828887 rs555730979 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19828892 19828893 rs759644998 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19828915 19828916 rs567558281 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19828957 19828958 rs77609403 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19828971 19828972 rs117011618 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19829002 19829003 rs532300912 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19829033 19829034 rs762815839 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829034 19829035 rs115093203 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.082941 0.186119 unknown exact 1 SingleClassTriAllelic 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,G,T, 2.000000,4791.000000,215.000000, 0.000399,0.956669,0.042931, maf-5-some-pop,maf-5-all-pops 736 chr21 19829046 19829047 rs557168621 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 A,C, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19829068 19829069 rs139009636 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829073 19829074 rs73895625 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 4 1000GENOMES,BUSHMAN,ILLUMINA-UK,JMKIDD_LAB, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 736 chr21 19829077 19829078 rs561683567 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829104 19829105 rs528896748 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829148 19829149 rs541291099 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19829158 19829159 rs144048960 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19829168 19829169 rs533297465 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829188 19829189 rs551591093 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829257 19829258 rs569911602 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19829307 19829308 rs565988287 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19829308 19829309 rs191346936 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829313 19829314 rs576431101 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19829354 19829355 rs549220850 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829355 19829356 rs752258596 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829356 19829357 rs567620132 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829401 19829402 rs184557163 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829404 19829405 rs189343901 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829421 19829422 rs181552167 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829424 19829425 rs761151765 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829448 19829449 rs79070986 0 + A A A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018623 0.094914 unknown exact 1 SingleClassTriAllelic 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 4961.000000,10.000000,37.000000, 0.990615,0.001997,0.007388, 736 chr21 19829451 19829452 rs140878927 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19829513 19829514 rs185340243 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829518 19829519 rs555192629 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19829522 19829527 rs760490312 0 + TAACA TAACA -/TAACA genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19829550 19829551 rs189795652 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19829570 19829571 rs181164635 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829601 19829602 rs559429827 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19829655 19829656 rs534565999 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19829662 19829663 rs76471130 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 736 chr21 19829664 19829665 rs754412238 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829669 19829670 rs577995148 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19829674 19829675 rs145133230 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19829678 19829679 rs563459538 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829679 19829680 rs370344731 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19829698 19829699 rs62215055 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 35.000000,4973.000000, 0.006989,0.993011, 736 chr21 19829705 19829706 rs758390805 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829740 19829742 rs761172662 0 + TT TT -/TT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829746 19829747 rs554062841 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19829751 19829752 rs780366118 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829755 19829756 rs549431826 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19829760 19829761 rs561204143 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829769 19829770 rs9983844 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.094856 0.196037 unknown exact 1 MixedObserved 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4758.000000,250.000000, 0.950080,0.049920, maf-5-some-pop 736 chr21 19829769 19829770 rs762077595 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829779 19829780 rs769587404 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19829786 19829787 rs546580563 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19829828 19829829 rs868543263 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19829837 19829838 rs571355692 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19829855 19829856 rs115862135 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19829901 19829902 rs550877744 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19829903 19829904 rs537191309 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,JMKIDD_LAB, 0 736 chr21 19829906 19829907 rs145807835 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19829909 19829912 rs777680313 0 + TTA TTA -/TTA genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19829979 19829980 rs149009179 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19829987 19829988 rs555176813 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19829994 19829995 rs186611615 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19830000 19830001 rs143792613 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19830050 19830051 rs117570512 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.038755 0.1337 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 99.000000,4909.000000, 0.019768,0.980232, maf-5-some-pop 736 chr21 19830051 19830052 rs759125402 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830105 19830106 rs189680698 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4944.000000,64.000000, 0.987220,0.012780, 736 chr21 19830115 19830116 rs867232107 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19830119 19830120 rs77564566 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 A,C, 28.000000,4980.000000, 0.005591,0.994409, 736 chr21 19830133 19830134 rs148092605 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19830157 19830158 rs538856760 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830165 19830166 rs775228603 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830195 19830199 rs150354447 0 + TAGA TAGA -/TAGA genomic deletion by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown range 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,TAGA, 35.000000,4973.000000, 0.006989,0.993011, 736 chr21 19830197 19830201 rs369794733 0 + GATA GATA -/GATA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19830246 19830247 rs73895627 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.130694 0.219696 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 352.000000,4656.000000, 0.070288,0.929712, maf-5-some-pop 736 chr21 19830250 19830251 rs143869947 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4973.000000,35.000000, 0.993011,0.006989, 736 chr21 19830261 19830262 rs561178510 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19830269 19830270 rs560478982 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19830279 19830280 rs74645381 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19830280 19830281 rs546694628 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19830309 19830310 rs73895628 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 65.000000,4943.000000, 0.012979,0.987021, maf-5-some-pop 736 chr21 19830323 19830324 rs762259591 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830324 19830325 rs532390782 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19830328 19830329 rs550587426 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19830360 19830361 rs765826201 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830372 19830373 rs569433977 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19830455 19830456 rs77095290 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19830506 19830507 rs73895629 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 736 chr21 19830526 19830527 rs758540498 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830530 19830531 rs146325118 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSMP, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19830552 19830553 rs567056217 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19830566 19830567 rs574825125 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19830578 19830579 rs180886341 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19830586 19830587 rs751782686 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830624 19830625 rs373342760 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19830664 19830665 rs139191704 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19830674 19830675 rs777933152 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19830702 19830703 rs755256386 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830703 19830704 rs538616551 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19830745 19830746 rs143101272 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 4 1000GENOMES,DDI,GMI,SSMP, 2 C,G, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19830760 19830761 rs749658401 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19830806 19830807 rs575442229 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19830819 19830820 rs150565313 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19830827 19830828 rs781375734 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830846 19830847 rs554422764 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19830847 19830848 rs749130129 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830861 19830862 rs138561318 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19830902 19830903 rs770601247 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830942 19830943 rs540300032 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19830947 19830948 rs778939659 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830948 19830949 rs538366671 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19830958 19830959 rs745743155 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19830961 19830962 rs565014217 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19830983 19830984 rs115416144 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 736 chr21 19830984 19830985 rs775076119 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831003 19831004 rs758761417 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19831027 19831028 rs149330556 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19831055 19831056 rs543939244 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831057 19831058 rs562946847 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19831076 19831077 rs768482573 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831101 19831102 rs144584067 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19831151 19831152 rs762312790 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831196 19831197 rs548871258 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19831206 19831212 rs138019887 0 + ATGATT ATGATT -/ATGATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 unknown range 1 3 1000GENOMES,EVA-GONL,LUNTER, 2 -,ATGATT, 64.000000,4944.000000, 0.012780,0.987220, 736 chr21 19831210 19831211 rs765480692 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831213 19831214 rs186425986 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19831233 19831234 rs62215056 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19831245 19831246 rs148476950 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19831251 19831252 rs571349928 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19831255 19831258 rs528423868 0 + TTG TTG -/TTG genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 736 chr21 19831258 19831259 rs34045791 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19831270 19831271 rs191192753 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19831277 19831277 rs35582754 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19831304 19831305 rs574135065 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19831305 19831306 rs568840515 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19831314 19831315 rs144002863 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19831356 19831357 rs766902657 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831362 19831363 rs145938485 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19831375 19831375 rs375091455 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 LUNTER, 0 736 chr21 19831385 19831386 rs751692598 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831399 19831400 rs76262720 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19831416 19831422 rs760541476 0 + CAAGGT CAAGGT -/CAAGGT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19831478 19831479 rs540020927 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19831479 19831480 rs767766218 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831483 19831484 rs558371066 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19831487 19831488 rs183596955 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19831492 19831493 rs542855008 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19831515 19831516 rs139886053 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19831535 19831536 rs752876699 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831545 19831546 rs188487628 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19831586 19831587 rs796164042 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19831603 19831604 rs536646794 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831630 19831631 rs745823595 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831632 19831633 rs562810896 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19831645 19831646 rs758337143 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831662 19831663 rs143225760 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19831679 19831680 rs746567161 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831694 19831695 rs768253923 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831708 19831709 rs776457704 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831710 19831711 rs542130648 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19831719 19831720 rs560745921 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19831720 19831721 rs550611139 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831737 19831738 rs151300835 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19831738 19831739 rs191967919 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 23.000000,4985.000000, 0.004593,0.995407, 736 chr21 19831811 19831812 rs866148295 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19831827 19831828 rs571106915 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19831836 19831837 rs773513135 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19831854 19831855 rs532066377 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19831880 19831881 rs550662207 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19831890 19831891 rs761647633 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19831899 19831900 rs568729751 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19831913 19831914 rs9981539 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.013092 0.079841 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WUGSC_SSAHASNP, 2 G,T, 33.000000,4975.000000, 0.006589,0.993411, 736 chr21 19831971 19831972 rs570469776 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 736 chr21 19831979 19831980 rs547814290 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19832008 19832009 rs140536184 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19832015 19832016 rs187048756 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19832049 19832050 rs114983770 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19832061 19832062 rs576636274 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19832063 19832063 rs35296062 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19832065 19832066 rs4339029 0 + T T A/T genomic single by-cluster,by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 2 ABI,SC_JCM, 1 T, 238.000000, 1.000000, 736 chr21 19832114 19832115 rs79671216 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 BGI, 0 736 chr21 19832129 19832130 rs538822316 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832136 19832137 rs537916600 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19832150 19832151 rs556641931 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19832165 19832166 rs191104727 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19832170 19832171 rs372189880 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19832177 19832178 rs150065754 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4973.000000,35.000000, 0.993011,0.006989, 736 chr21 19832216 19832220 rs750588090 0 + TAAT TAAT -/TAAT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832217 19832218 rs774808680 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832285 19832286 rs565336638 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 -,T, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19832312 19832313 rs568291136 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19832323 19832324 rs560512309 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19832340 19832341 rs764837479 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19832346 19832347 rs572776788 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19832388 19832388 rs541750202 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 736 chr21 19832410 19832411 rs145422891 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19832411 19832412 rs564632390 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19832452 19832453 rs531950061 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19832460 19832461 rs117613668 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19832501 19832502 rs867954714 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19832508 19832509 rs113619924 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19832514 19832515 rs142636581 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 736 chr21 19832556 19832557 rs535028114 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19832594 19832594 rs554661087 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 736 chr21 19832595 19832596 rs756224955 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832607 19832608 rs574726569 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19832670 19832671 rs56168334 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 1 ILLUMINA, 0 736 chr21 19832680 19832680 rs202038299 0 + - - -/TCTA genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 736 chr21 19832681 19832682 rs200546483 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19832682 19832682 rs74277481 0 + - - -/TATT genomic insertion by-cluster,by-frequency,by-1000genomes 0.220246 0.248223 unknown between 1 13 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,TATT, 4377.000000,631.000000, 0.874002,0.125998, maf-5-some-pop 736 chr21 19832683 19832683 rs140087500 0 + - - -/TATT genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19832707 19832711 rs747075218 0 + TCTT TCTT -/TCTT genomic deletion by-cluster 0 0 unknown range 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19832739 19832740 rs764375154 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832743 19832744 rs750243118 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832753 19832754 rs563765495 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19832764 19832765 rs531896685 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19832781 19832782 rs529789432 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19832802 19832803 rs758190767 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832830 19832831 rs780184930 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19832891 19832892 rs547779998 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19832904 19832905 rs73198350 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19832906 19832907 rs566132995 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19832909 19832910 rs533795672 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19832976 19832977 rs552067947 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19833010 19833011 rs746908142 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833021 19833022 rs570527804 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833025 19833026 rs538023744 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833067 19833068 rs556119333 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833080 19833081 rs80272020 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 736 chr21 19833121 19833122 rs146447225 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19833143 19833144 rs754559730 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833155 19833156 rs554164602 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19833162 19833163 rs572484084 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833211 19833212 rs138994462 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833256 19833257 rs780794275 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833305 19833306 rs183799472 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833369 19833370 rs4530444 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.070783 0.174302 unknown exact 1 12 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 184.000000,4824.000000, 0.036741,0.963259, maf-5-some-pop 736 chr21 19833419 19833420 rs79971437 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833420 19833421 rs375553289 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19833429 19833430 rs374710515 0 + G G C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,TISHKOFF, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833473 19833474 rs187736635 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833483 19833484 rs576391810 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19833488 19833489 rs772894705 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833496 19833497 rs749651706 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833501 19833502 rs771244652 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833547 19833548 rs547889753 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833575 19833576 rs192651540 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19833611 19833612 rs367698899 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19833615 19833616 rs185762089 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19833622 19833623 rs551784586 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833658 19833659 rs570710043 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19833665 19833666 rs531549571 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833675 19833676 rs577435262 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19833692 19833693 rs549944985 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833708 19833709 rs568168440 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833729 19833730 rs535913816 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19833772 19833773 rs62215057 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.493568 0.056343 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2220.000000,2788.000000, 0.443291,0.556709, maf-5-some-pop,maf-5-all-pops 736 chr21 19833790 19833791 rs75957593 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 MixedObserved 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,T, 4962.000000,46.000000, 0.990815,0.009185, 736 chr21 19833790 19833791 rs201029607 0 + A A -/A genomic deletion by-1000genomes 0 0 unknown exact 1 MixedObserved 1 1000GENOMES, 0 736 chr21 19833799 19833800 rs539824591 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19833808 19833809 rs772142183 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833828 19833829 rs557905060 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19833863 19833864 rs189843260 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19833864 19833865 rs1156828 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.059235 0.161582 unknown exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 153.000000,4855.000000, 0.030551,0.969449, maf-5-some-pop 736 chr21 19833901 19833902 rs374560500 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19833902 19833903 rs764273443 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833904 19833905 rs77239685 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 736 chr21 19833908 19833909 rs374067057 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19833919 19833920 rs762692000 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833947 19833948 rs766229807 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833962 19833963 rs542061880 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19833991 19833992 rs181998753 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834004 19834005 rs778328862 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19834035 19834036 rs561846338 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19834043 19834044 rs541496250 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834055 19834056 rs755028848 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834064 19834065 rs184555829 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834071 19834072 rs749660080 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19834093 19834094 rs188855193 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834126 19834127 rs9974067 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.071153 0.174681 unknown exact 1 10 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4823.000000,185.000000, 0.963059,0.036941, maf-5-some-pop 736 chr21 19834127 19834128 rs747860478 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19834135 19834136 rs563972924 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834136 19834137 rs531590576 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834137 19834138 rs755614462 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834140 19834141 rs549819557 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834142 19834143 rs180842132 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19834159 19834160 rs79503062 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19834218 19834219 rs748920149 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834252 19834253 rs771298006 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834283 19834284 rs62215058 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 8 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19834291 19834292 rs62215059 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 unknown exact 1 12 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 736 chr21 19834314 19834315 rs185445816 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19834315 19834316 rs776600636 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19834318 19834319 rs558083873 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834325 19834326 rs189380781 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19834331 19834332 rs537715106 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834353 19834354 rs181987644 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19834371 19834372 rs574021924 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19834377 19834378 rs73895630 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.138546 0.223781 unknown exact 1 14 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4633.000000,375.000000, 0.925120,0.074880, maf-5-some-pop 736 chr21 19834461 19834462 rs532901705 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19834482 19834483 rs776044647 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834518 19834519 rs760709605 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834529 19834530 rs553192675 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834554 19834555 rs776743137 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834586 19834587 rs762073690 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834645 19834646 rs552345669 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834664 19834665 rs772992568 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19834665 19834666 rs187469107 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19834698 19834699 rs564071453 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834706 19834707 rs531226381 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834714 19834715 rs191421990 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19834716 19834717 rs751454584 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834719 19834720 rs759378751 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834738 19834739 rs565977459 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19834771 19834772 rs543675449 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834790 19834791 rs561815638 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19834795 19834796 rs183699025 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19834817 19834818 rs547608951 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19834823 19834824 rs767391970 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834856 19834857 rs185465781 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 736 chr21 19834864 19834865 rs144099526 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 unknown exact 1 2 1000GENOMES,LUNTER, 2 -,T, 62.000000,4946.000000, 0.012380,0.987620, 736 chr21 19834868 19834873 rs756135987 0 + TAAAA TAAAA -/TAAAA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834891 19834892 rs755600806 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834920 19834921 rs3991103 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.380724 0.213099 unknown exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3727.000000,1281.000000, 0.744209,0.255791, maf-5-some-pop,maf-5-all-pops 736 chr21 19834958 19834959 rs753437667 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834965 19834966 rs756969045 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19834991 19834992 rs540531008 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19835016 19835017 rs570003677 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835019 19835020 rs78561012 0 + A A A/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 T, 2.000000, 1.000000, 736 chr21 19835023 19835024 rs778524027 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19835061 19835062 rs537027826 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19835080 19835081 rs549393095 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19835092 19835093 rs117852873 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19835100 19835101 rs535032192 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835104 19835105 rs115917002 0 + A A A/C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19835124 19835125 rs141276122 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19835168 19835169 rs539488315 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835178 19835179 rs766122643 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19835179 19835180 rs557592235 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19835189 19835190 rs758732569 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19835209 19835210 rs747401728 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 DDI, 0 736 chr21 19835223 19835224 rs780457631 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19835300 19835301 rs747503816 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19835305 19835306 rs796636962 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19835350 19835351 rs576117299 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19835353 19835356 rs756974596 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19835417 19835418 rs543039243 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835437 19835438 rs190275145 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19835468 19835469 rs573932571 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835480 19835481 rs150765172 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032984 0.124112 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 84.000000,4924.000000, 0.016773,0.983227, maf-5-some-pop 736 chr21 19835489 19835490 rs559554154 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19835498 19835499 rs533183476 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19835499 19835500 rs532524476 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19835510 19835511 rs776709521 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19835511 19835512 rs62216760 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 736 chr21 19835518 19835519 rs531076476 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19835546 19835547 rs140223105 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 PJP, 0 736 chr21 19835548 19835549 rs549106472 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835549 19835550 rs567326743 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835561 19835562 rs9980284 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 736 chr21 19835564 19835565 rs548994474 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.326035 0.238157 unknown exact 1 MixedObserved 1 1000GENOMES, 2 -,A, 1027.000000,3981.000000, 0.205072,0.794928, maf-5-some-pop,maf-5-all-pops 736 chr21 19835564 19835572 rs763711296 0 + AAAAAAAA AAAAAAAA -/AAAAAAAA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_GENOME_DK, 0 736 chr21 19835565 19835565 rs57033426 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 2 HUMANGENOME_JCVI,PJP, 1 A, 2.000000, 1.000000, 736 chr21 19835590 19835595 rs57569807 0 + AAAAA AAAAA -/AAAAA genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 736 chr21 19835595 19835595 rs397951087 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 736 chr21 19835631 19835632 rs534945659 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19835651 19835652 rs546907086 0 + C C A/C genomic single by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 1 1000GENOMES, 2 A,C, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19835655 19835656 rs4818413 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.493881 0.054972 unknown exact 1 24 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 2227.000000,2781.000000, 0.444688,0.555312, maf-5-some-pop,maf-5-all-pops 736 chr21 19835698 19835699 rs531704329 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19835741 19835742 rs538836884 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835776 19835777 rs759919337 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19835787 19835788 rs754325716 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19835795 19835796 rs182156713 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835799 19835800 rs868080045 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19835843 19835844 rs576051225 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19835846 19835847 rs7283427 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.153332 0.230554 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4589.000000,419.000000, 0.916334,0.083666, maf-5-some-pop 736 chr21 19835848 19835849 rs149698366 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19835857 19835858 rs573692893 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19835870 19835871 rs377128578 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19835883 19835884 rs541303905 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19835913 19835914 rs9979490 0 + G G A/G genomic single by-cluster,by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 G, 422.000000, 1.000000, 736 chr21 19835998 19835999 rs559664555 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19836018 19836019 rs149119209 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.106633 0.204807 unknown exact 1 13 1000GENOMES,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4725.000000,283.000000, 0.943490,0.056510, maf-5-some-pop 736 chr21 19836031 19836032 rs148423469 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 736 chr21 19836055 19836056 rs563547056 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19836058 19836059 rs546359943 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19836065 19836066 rs530862169 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19836080 19836081 rs13050407 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19836179 19836180 rs775301081 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19836218 19836219 rs142948133 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19836257 19836258 rs151087641 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 736 chr21 19836268 19836269 rs186762149 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19836271 19836272 rs546619175 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19836274 19836275 rs142649700 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 736 chr21 19836277 19836278 rs758681405 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19836300 19836301 rs573033478 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19836305 19836306 rs201886953 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19836308 19836309 rs753404835 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19836316 19836317 rs75365189 0 + C C C/G genomic single by-cluster 0.5 0 unknown exact 1 3 BCM-HGSC-SUB,BUSHMAN,GMI, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19836334 19836335 rs78141907 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 BUSHMAN,GMI, 1 C, 1.000000, 1.000000, 736 chr21 19836345 19836346 rs756738048 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19836348 19836349 rs75776358 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,GMI, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19836363 19836364 rs541675406 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19836383 19836384 rs764911897 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19836414 19836415 rs532884681 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19836425 19836425 rs534284787 0 + - - -/GCTT genomic insertion by-frequency,by-1000genomes 0.007163 0.059414 unknown between 1 1 1000GENOMES, 2 -,GCTT, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19836429 19836430 rs550846751 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19836445 19836446 rs750038884 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19836523 19836524 rs192740799 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19836526 19836527 rs747133454 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19836528 19836529 rs113709986 0 + C C A/C genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19836529 19836530 rs183663686 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 736 chr21 19836644 19836645 rs189059994 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19836654 19836655 rs192893439 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 22.000000,4986.000000, 0.004393,0.995607, 736 chr21 19836688 19836689 rs758787691 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19836709 19836710 rs780411005 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19836712 19836712 rs574142902 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.002393 0.03451 unknown between 1 1 1000GENOMES, 2 -,A, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19836745 19836746 rs185446442 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19836749 19836750 rs797016342 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19836756 19836757 rs144880015 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 736 chr21 19836776 19836777 rs11908943 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.153 0.230415 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BL,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 418.000000,4590.000000, 0.083467,0.916534, maf-5-some-pop 736 chr21 19836795 19836796 rs544181351 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19836827 19836828 rs556837413 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19836833 19836834 rs11908973 0 + T T C/T genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0.060734 0.163335 unknown exact 1 12 1000GENOMES,BCMHGSC_JDW,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 157.000000,4851.000000, 0.031350,0.968650, 736 chr21 19836844 19836845 rs188613063 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19836869 19836870 rs561027887 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19836884 19836885 rs762828467 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19836892 19836893 rs528600347 0 + G G G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 736 chr21 19836893 19836894 rs540226875 0 + A A A/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 736 chr21 19836911 19836912 rs565282732 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19836921 19836922 rs141512190 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19836979 19836980 rs11911647 0 + A A A/G genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0.049433 0.149241 unknown exact 1 11 1000GENOMES,BCMHGSC_JDW,CSHL-HAPMAP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4881.000000,127.000000, 0.974641,0.025359, 736 chr21 19837008 19837009 rs569322396 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19837009 19837010 rs142339591 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19837011 19837012 rs138232712 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 114.000000,4894.000000, 0.022764,0.977236, maf-5-some-pop 736 chr21 19837053 19837054 rs149163373 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4966.000000,42.000000, 0.991613,0.008387, 736 chr21 19837072 19837073 rs534757454 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19837097 19837098 rs868484496 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19837117 19837118 rs552958517 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19837133 19837134 rs571232200 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837150 19837151 rs538523899 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837160 19837161 rs528649801 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 16.000000,4992.000000, 0.003195,0.996805, 736 chr21 19837184 19837185 rs776519621 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837187 19837188 rs115884081 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.027575 0.114207 unknown exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 3 A,C,G, 4938.000000,68.000000,2.000000, 0.986022,0.013578,0.000399, 736 chr21 19837206 19837207 rs371089378 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19837229 19837230 rs184257110 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837235 19837236 rs554386471 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19837275 19837276 rs9975034 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.095934 0.196885 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4755.000000,253.000000, 0.949481,0.050519, maf-5-some-pop 736 chr21 19837286 19837287 rs750092414 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837302 19837303 rs758004694 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837320 19837321 rs568714287 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19837337 19837338 rs752000072 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837345 19837346 rs755263098 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837359 19837360 rs143571104 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837361 19837362 rs753204147 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837374 19837375 rs756274877 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837378 19837379 rs777931612 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837390 19837391 rs577188548 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19837399 19837400 rs537378290 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19837412 19837413 rs544307724 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19837447 19837448 rs757851614 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19837514 19837515 rs188153451 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837544 19837546 rs140754529 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.108048 0.20579 unknown range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,CT, 287.000000,4721.000000, 0.057308,0.942692, maf-5-some-pop 736 chr21 19837547 19837549 rs377265572 0 + TC TC -/TC genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19837555 19837556 rs557314713 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19837557 19837558 rs530458272 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837600 19837601 rs548797072 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19837603 19837603 rs774991034 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837617 19837618 rs560672065 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19837619 19837620 rs368319100 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19837641 19837642 rs868715685 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19837662 19837663 rs546692197 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837677 19837678 rs137982101 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837713 19837714 rs28882702 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.172351 0.237636 unknown exact 1 14 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4531.000000,477.000000, 0.904752,0.095248, maf-5-some-pop 736 chr21 19837756 19837757 rs9974525 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.108048 0.20579 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 287.000000,4721.000000, 0.057308,0.942692, maf-5-some-pop 736 chr21 19837789 19837791 rs755021086 0 + TC TC -/TC genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19837817 19837818 rs138535258 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19837820 19837821 rs536195686 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19837838 19837839 rs141168929 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 736 chr21 19837839 19837840 rs572713510 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19837843 19837844 rs761683875 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837865 19837866 rs758734631 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19837872 19837873 rs533999986 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837881 19837882 rs558985103 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19837919 19837920 rs769300416 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19837935 19837936 rs577300539 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19837938 19837942 rs544699810 0 + ACAA ACAA -/ACAA genomic deletion by-frequency,by-1000genomes 0.014667 0.084371 unknown range 1 1 1000GENOMES, 2 -,ACAA, 37.000000,4971.000000, 0.007388,0.992612, 736 chr21 19837956 19837957 rs544583063 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19838011 19838012 rs772780602 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838023 19838024 rs762359583 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838035 19838036 rs562787971 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19838049 19838050 rs575139437 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19838060 19838061 rs766092688 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838061 19838062 rs747186089 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19838100 19838101 rs553471080 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19838105 19838106 rs62213260 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,BCMHGSC_JDW,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19838109 19838110 rs139115085 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4926.000000,82.000000, 0.983626,0.016374, maf-5-some-pop 736 chr21 19838113 19838114 rs527910571 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19838116 19838117 rs62213261 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 736 chr21 19838127 19838128 rs751128978 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838130 19838131 rs180942396 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 736 chr21 19838133 19838134 rs62213262 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 736 chr21 19838134 19838135 rs564979357 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19838135 19838136 rs532151681 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19838146 19838147 rs149473029 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19838157 19838158 rs62213263 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 736 chr21 19838186 19838187 rs759965343 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838209 19838210 rs147299526 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19838210 19838211 rs867299242 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19838272 19838273 rs186995133 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19838283 19838284 rs140889887 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.054725 0.156101 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4867.000000,141.000000, 0.971845,0.028155, maf-5-some-pop 736 chr21 19838284 19838285 rs535618463 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19838329 19838330 rs868283570 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19838331 19838332 rs190828139 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19838382 19838383 rs555308888 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19838390 19838391 rs753259544 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838392 19838393 rs144938671 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19838396 19838397 rs577264875 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838411 19838412 rs756749394 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838420 19838421 rs867455809 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19838437 19838438 rs181700498 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19838451 19838452 rs186007980 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19838454 19838455 rs147965369 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 736 chr21 19838473 19838474 rs781267960 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19838480 19838481 rs753998443 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838502 19838503 rs867156608 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19838504 19838505 rs11910065 0 + G G A/G genomic single by-cluster,by-hapmap,by-1000genomes 0.049433 0.149241 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,CSHL-HAPMAP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 127.000000,4881.000000, 0.025359,0.974641, 736 chr21 19838518 19838519 rs574902101 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19838529 19838530 rs190032638 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19838535 19838536 rs542514027 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19838536 19838537 rs554485444 0 + G G C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19838560 19838561 rs182403089 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,C, 35.000000,4973.000000, 0.006989,0.993011, 736 chr21 19838577 19838578 rs185495617 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19838592 19838593 rs190589646 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19838596 19838597 rs779227114 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19838617 19838617 rs549174008 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.00319 0.039809 unknown between 1 1 1000GENOMES, 2 -,A, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19838651 19838652 rs183027555 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19838657 19838658 rs188732315 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838659 19838660 rs769825358 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19838663 19838664 rs193286483 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838668 19838669 rs142843612 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19838675 19838676 rs529619139 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19838677 19838678 rs151034665 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 47.000000,4961.000000, 0.009385,0.990615, 736 chr21 19838705 19838706 rs182955180 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838726 19838727 rs374443928 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19838730 19838731 rs527634807 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19838742 19838743 rs866454733 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19838750 19838751 rs552301760 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19838763 19838764 rs570562744 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838763 19838763 rs544229683 0 + - - -/A/AA genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 EVA-GONL,HAMMER_LAB, 0 736 chr21 19838765 19838766 rs538303336 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838777 19838778 rs116413487 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4964.000000,44.000000, 0.991214,0.008786, 736 chr21 19838778 19838779 rs564039398 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19838823 19838824 rs187419990 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838829 19838830 rs202097096 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19838835 19838836 rs554250457 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838851 19838852 rs192220803 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838864 19838865 rs140996434 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, 736 chr21 19838893 19838894 rs558294431 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19838914 19838915 rs184008164 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19838926 19838927 rs150207344 0 + C C C/G genomic single by-frequency,by-1000genomes 0.029504 0.117819 unknown exact 1 1 1000GENOMES, 2 C,G, 4933.000000,75.000000, 0.985024,0.014976, maf-5-some-pop 736 chr21 19838953 19838954 rs562225901 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19839035 19839036 rs146492896 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4940.000000,68.000000, 0.986422,0.013578, 736 chr21 19839041 19839042 rs541420683 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839063 19839064 rs559720366 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19839103 19839104 rs527540008 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19839175 19839176 rs539856135 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19839190 19839191 rs769785350 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19839197 19839198 rs774165888 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 736 chr21 19839216 19839217 rs111512028 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.153665 0.230694 unknown exact 1 11 1000GENOMES,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4588.000000,420.000000, 0.916134,0.083866, maf-5-some-pop 736 chr21 19839234 19839235 rs570597921 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839253 19839254 rs531385203 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19839272 19839273 rs189859797 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839275 19839276 rs568560421 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839292 19839293 rs536003164 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839332 19839333 rs554164587 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 23.000000,4985.000000, 0.004593,0.995407, 736 chr21 19839346 19839347 rs565952437 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839351 19839352 rs540094774 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839398 19839399 rs558142875 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839408 19839409 rs576705445 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19839409 19839410 rs62213264 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 4 1000GENOMES,BCMHGSC_JDW,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19839410 19839411 rs184651017 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19839411 19839412 rs574147604 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19839421 19839422 rs144761270 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 736 chr21 19839432 19839433 rs559684893 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19839450 19839451 rs190331007 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19839451 19839452 rs771484337 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19839463 19839464 rs138784088 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,G, 4881.000000,127.000000, 0.974641,0.025359, maf-5-some-pop 736 chr21 19839466 19839467 rs371698645 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19839491 19839492 rs182506327 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19839497 19839498 rs550000040 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839515 19839516 rs561869718 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19839546 19839547 rs529368941 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19839552 19839553 rs547930141 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839560 19839561 rs149321377 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19839573 19839574 rs184789111 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19839630 19839631 rs188769475 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19839678 19839679 rs540843531 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19839688 19839689 rs539816269 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19839702 19839703 rs547046678 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19839718 19839721 rs769193864 0 + ATA ATA -/ATA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19839718 19839718 rs367778639 0 + - - -/ATA/ATAATAATA genomic insertion by-cluster,by-frequency,by-1000genomes 0.059235 0.161582 unknown between 1 MixedObserved,InconsistentAlleles 5 1000GENOMES,DDI,LUNTER,SSIP,SSMP, 2 -,ATA, 4855.000000,153.000000, 0.969449,0.030551, maf-5-some-pop 736 chr21 19839721 19839721 rs764685012 0 + - - -/ATA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19839740 19839741 rs143450086 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 A,T, 28.000000,4980.000000, 0.005591,0.994409, 736 chr21 19839758 19839759 rs4818414 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.496874 0.039413 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2702.000000,2306.000000, 0.539537,0.460463, maf-5-some-pop,maf-5-all-pops 736 chr21 19839788 19839789 rs137863571 0 + G G G/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 G,T, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19839790 19839791 rs367789736 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,C, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19839843 19839844 rs759042074 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19839848 19839849 rs73895633 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 3 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19839882 19839883 rs750890451 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19839898 19839899 rs141692947 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 736 chr21 19839916 19839917 rs372022953 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840000 19840001 rs545474061 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19840001 19840002 rs147156876 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 736 chr21 19840034 19840035 rs576212401 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19840112 19840113 rs543752263 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840124 19840125 rs761098798 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840136 19840137 rs181555885 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840142 19840143 rs111700345 0 + G G -/G genomic deletion unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19840158 19840159 rs764738667 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840170 19840171 rs185451069 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840172 19840173 rs4816775 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.485866 0.082869 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 2083.000000,2925.000000, 0.415935,0.584065, maf-5-some-pop,maf-5-all-pops 736 chr21 19840173 19840174 rs191577738 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19840174 19840175 rs180801920 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19840178 19840179 rs757380978 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840195 19840196 rs541922018 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19840210 19840211 rs140382840 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840225 19840226 rs186193840 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840247 19840248 rs9974543 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 736 chr21 19840248 19840249 rs9984702 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 736 chr21 19840266 19840267 rs531075881 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19840285 19840286 rs75754275 0 + G G A/G genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 736 chr21 19840293 19840297 rs777001061 0 + AGAG AGAG -/AGAG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840351 19840352 rs57593696 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.434543 0.168653 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1598.000000,3410.000000, 0.319089,0.680911, maf-5-some-pop,maf-5-all-pops 736 chr21 19840492 19840493 rs147510232 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.024843 0.108648 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 63.000000,4945.000000, 0.012580,0.987420, 736 chr21 19840517 19840518 rs553572489 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19840544 19840545 rs781255255 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19840549 19840550 rs565637488 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840562 19840563 rs539524728 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840595 19840596 rs2300508 0 - C C A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.493247 0.057713 unknown exact 1 27 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 A,G, 2795.000000,2213.000000, 0.558107,0.441893, maf-5-some-pop,maf-5-all-pops 736 chr21 19840617 19840618 rs780245808 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840662 19840663 rs576125776 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19840671 19840672 rs557594002 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19840673 19840674 rs747990552 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840694 19840695 rs369957340 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19840695 19840696 rs555681402 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19840696 19840697 rs755859421 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840724 19840725 rs574022533 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840749 19840750 rs749118563 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840770 19840771 rs770477063 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840780 19840781 rs540864122 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840802 19840803 rs756116281 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19840850 19840851 rs76047946 0 + C C A/C genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19840850 19840851 rs202169265 0 + C C -/C genomic deletion by-1000genomes 0 0 unknown exact 1 MixedObserved 1 1000GENOMES, 0 736 chr21 19840851 19840852 rs11357922 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.49533 0.048096 unknown exact 1 MixedObserved 11 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,A, 2746.000000,2262.000000, 0.548323,0.451677, maf-5-some-pop,maf-5-all-pops 736 chr21 19840851 19840852 rs76158287 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19840860 19840861 rs796831332 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19840885 19840886 rs190864697 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19840886 19840887 rs559500214 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19840895 19840896 rs533228344 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19840909 19840910 rs545499468 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19840911 19840912 rs547173528 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19840925 19840926 rs570353122 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19840942 19840943 rs773798916 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19840963 19840964 rs539818710 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19841039 19841040 rs75506187 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 60.000000,4948.000000, 0.011981,0.988019, 736 chr21 19841079 19841080 rs542768773 0 + T T A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 736 chr21 19841177 19841178 rs533053603 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19841244 19841245 rs373996563 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19841252 19841253 rs567611544 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19841253 19841254 rs376113389 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19841267 19841268 rs113925406 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 3 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19841274 19841275 rs761153710 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19841326 19841327 rs369066319 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19841334 19841335 rs114864371 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, maf-5-some-pop 736 chr21 19841347 19841348 rs150051690 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19841357 19841358 rs73198353 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.108402 0.206034 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 288.000000,4720.000000, 0.057508,0.942492, maf-5-some-pop 736 chr21 19841379 19841380 rs183265658 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19841381 19841382 rs375983025 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19841394 19841395 rs557859962 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19841402 19841402 rs536405673 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown between 1 2 1000GENOMES,SSMP, 2 -,A, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19841411 19841412 rs569798723 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19841419 19841420 rs368711845 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19841434 19841435 rs573669954 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19841452 19841453 rs777210380 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19841497 19841498 rs749183938 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19841511 19841512 rs537032744 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19841515 19841516 rs62213266 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 5 BCMHGSC_JDW,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 736 chr21 19841548 19841549 rs555447182 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19841549 19841550 rs770860075 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19841558 19841559 rs573934488 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19841616 19841617 rs773603723 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19841714 19841714 rs575111408 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 736 chr21 19841726 19841727 rs111852215 0 + A A A/G genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 G, 1.000000, 1.000000, 736 chr21 19841794 19841795 rs62213267 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 6 BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 1 C, 2.000000, 1.000000, 736 chr21 19841795 19841796 rs370631315 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19841797 19841798 rs374324067 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19841819 19841820 rs552857834 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19841893 19841894 rs530978049 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19841916 19841917 rs28449912 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 unknown exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4941.000000,67.000000, 0.986621,0.013379, maf-5-some-pop 736 chr21 19841945 19841950 rs201977590 0 + ATACA ATACA -/ATACA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown range 1 2 1000GENOMES,GMI, 2 -,ATACA, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19841965 19841966 rs187932282 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19841967 19841968 rs2300507 0 - C C A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.492188 0.06201 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 2817.000000,2191.000000, 0.562500,0.437500, maf-5-some-pop,maf-5-all-pops 736 chr21 19841969 19841970 rs145196861 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19841972 19841973 rs564748613 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19841994 19841995 rs745640837 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19842007 19842008 rs542610682 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19842036 19842037 rs560951719 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842089 19842090 rs533704825 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19842099 19842100 rs758453572 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842103 19842104 rs13051694 0 + A A A/C genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 SSAHASNP, 1 A, 412.000000, 1.000000, 736 chr21 19842120 19842121 rs75251564 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.124144 0.21601 unknown exact 1 15 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 333.000000,4675.000000, 0.066494,0.933506, maf-5-some-pop 736 chr21 19842151 19842152 rs547290160 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842177 19842182 rs575697943 0 + TATAT TATAT -/TATAT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 1 1000GENOMES, 2 -,TATAT, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19842198 19842202 rs561187772 0 + TCTA TCTA -/TCTA genomic deletion by-frequency,by-1000genomes 0.007163 0.059414 unknown range 1 1 1000GENOMES, 2 -,TCTA, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19842221 19842222 rs751727526 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842247 19842248 rs755914492 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842288 19842289 rs148710179 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19842325 19842326 rs2300506 0 - G G C/T genomic single by-cluster,by-frequency,by-1000genomes 0.448066 0.152544 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1697.000000,3311.000000, 0.338858,0.661142, maf-5-some-pop,maf-5-all-pops 736 chr21 19842338 19842339 rs2300505 0 - C C A/G genomic single by-cluster,by-frequency,by-1000genomes 0.493013 0.058691 unknown exact 1 22 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 2800.000000,2208.000000, 0.559105,0.440895, maf-5-some-pop,maf-5-all-pops 736 chr21 19842339 19842340 rs757199112 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842377 19842378 rs569762032 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19842416 19842417 rs61427823 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.184521 0.241273 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 515.000000,4493.000000, 0.102835,0.897165, maf-5-some-pop 736 chr21 19842427 19842428 rs548957873 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19842457 19842458 rs567285875 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19842472 19842473 rs978421 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.417196 0.185864 unknown exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1485.000000,3523.000000, 0.296526,0.703474, maf-5-some-pop 736 chr21 19842478 19842479 rs190458863 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842486 19842487 rs771669222 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842557 19842558 rs368035307 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19842576 19842577 rs978422 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.417196 0.185864 unknown exact 1 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 3523.000000,1485.000000, 0.703474,0.296526, maf-5-some-pop,genotype-conflict 736 chr21 19842583 19842584 rs556784749 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842586 19842587 rs115667384 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 32.000000,4976.000000, 0.006390,0.993610, 736 chr21 19842614 19842615 rs978423 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.465263 0.127129 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1844.000000,3164.000000, 0.368211,0.631789, maf-5-some-pop 736 chr21 19842638 19842639 rs61488573 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.291235 0.246576 unknown exact 1 MixedObserved 6 1000GENOMES,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,A, 886.000000,4122.000000, 0.176917,0.823083, maf-5-some-pop 736 chr21 19842638 19842640 rs763298631 0 + AA AA -/AA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842646 19842648 rs75302212 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 736 chr21 19842647 19842648 rs797005060 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19842648 19842649 rs78892050 0 + G G G/T genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19842648 19842648 rs201126558 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 GMI, 0 736 chr21 19842705 19842706 rs576327669 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842706 19842707 rs183200217 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842717 19842718 rs187948178 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19842761 19842762 rs115150992 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 736 chr21 19842770 19842771 rs532699753 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19842774 19842775 rs766657966 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842781 19842782 rs551195577 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19842797 19842798 rs978424 0 + C C A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.439883 0.164224 unknown exact 1 SingleClassTriAllelic 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SEQUENOM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 3 A,C,G, 3376.000000,1628.000000,4.000000, 0.674121,0.325080,0.000799, maf-5-some-pop 736 chr21 19842805 19842806 rs765716350 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842822 19842823 rs549127852 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19842837 19842838 rs567391798 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19842838 19842839 rs372260761 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19842847 19842848 rs192984524 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19842864 19842865 rs546287242 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842866 19842867 rs533874218 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19842867 19842868 rs75664966 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19842909 19842910 rs538601343 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842918 19842919 rs61585319 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05961 0.162024 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 154.000000,4854.000000, 0.030751,0.969249, maf-5-some-pop 736 chr21 19842924 19842925 rs57251331 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05961 0.162024 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4854.000000,154.000000, 0.969249,0.030751, maf-5-some-pop 736 chr21 19842936 19842937 rs766384294 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19842944 19842945 rs536322251 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842962 19842963 rs554613157 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19842972 19842975 rs755075520 0 + TTG TTG -/TTG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843000 19843011 rs551252544 0 + ATTATCAATAG ATTATCAATAG -/ATTATCAATAG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,ATTATCAATAG, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19843037 19843041 rs553725244 0 + GAAC GAAC -/GAAC genomic deletion by-cluster 0 0 unknown range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843040 19843041 rs727150 0 - C C G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.441977 0.16014 unknown exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 1651.000000,3357.000000, 0.329673,0.670327, maf-5-some-pop,genotype-conflict 736 chr21 19843070 19843071 rs752822469 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19843072 19843073 rs756280900 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19843074 19843075 rs184243057 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19843131 19843132 rs565182528 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843143 19843144 rs577458280 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19843148 19843149 rs544957743 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843160 19843161 rs563051583 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19843177 19843178 rs777937902 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19843184 19843185 rs530288923 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19843202 19843203 rs542623678 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19843224 19843225 rs544982108 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19843226 19843227 rs759819533 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843235 19843236 rs560998203 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843236 19843237 rs187766758 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19843245 19843246 rs546571672 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19843288 19843289 rs753624301 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843305 19843305 rs11396753 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.418974 0.184249 unknown between 1 11 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,T, 1496.000000,3512.000000, 0.298722,0.701278, maf-5-some-pop,maf-5-all-pops 736 chr21 19843312 19843312 rs397792892 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 GMI,HGSV, 0 736 chr21 19843341 19843342 rs143712929 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19843364 19843365 rs368819125 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19843371 19843372 rs757045046 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843391 19843392 rs778608170 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843430 19843431 rs532257432 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19843445 19843446 rs191303959 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19843446 19843447 rs146826760 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 21.000000,4987.000000, 0.004193,0.995807, 736 chr21 19843447 19843448 rs536003934 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843451 19843452 rs564711817 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19843469 19843470 rs554349532 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19843471 19843472 rs757328488 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19843521 19843522 rs4818415 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.494651 0.05144 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2763.000000,2245.000000, 0.551717,0.448283, maf-5-some-pop,maf-5-all-pops 736 chr21 19843582 19843583 rs757997312 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843593 19843594 rs534076088 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19843598 19843599 rs779640599 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19843622 19843623 rs558896736 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19843626 19843627 rs4818416 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.490673 0.067651 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 2846.000000,2162.000000, 0.568291,0.431709, maf-5-some-pop,maf-5-all-pops 736 chr21 19843700 19843701 rs184561538 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19843704 19843705 rs544640521 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843755 19843756 rs556862978 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19843766 19843767 rs866045043 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19843769 19843770 rs56151807 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4954.000000,54.000000, 0.989217,0.010783, 736 chr21 19843793 19843794 rs146518945 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 BL,GMI,ILLUMINA, 0 736 chr21 19843794 19843795 rs11355100 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.440057 0.162414 unknown exact 1 MixedObserved 9 1000GENOMES,BUSHMAN,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP, 2 -,A, 3371.000000,1637.000000, 0.673123,0.326877, maf-5-some-pop,maf-5-all-pops 736 chr21 19843794 19843795 rs76911357 0 + A A A/G genomic single unknown 0 0 unknown exact 1 MixedObserved 3 BGI,BL,GMI, 0 736 chr21 19843804 19843805 rs397867526 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 2 ABI,HGSV, 0 736 chr21 19843806 19843807 rs552791958 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 -,A, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19843860 19843861 rs118121704 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19843873 19843874 rs189492301 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843881 19843882 rs528179216 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843900 19843901 rs112556014 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19843902 19843903 rs548951017 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19843948 19843949 rs79531581 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 736 chr21 19843964 19843965 rs117167498 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.036066 0.129354 unknown exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 92.000000,4916.000000, 0.018371,0.981629, maf-5-some-pop 736 chr21 19843967 19843968 rs550174104 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19843985 19843985 rs142852572 0 + - - -/CTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown between 1 2 1000GENOMES,LUNTER, 2 -,CTC, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19843987 19843988 rs7280712 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.43555 0.167544 unknown exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1605.000000,3403.000000, 0.320487,0.679513, maf-5-some-pop,maf-5-all-pops 736 chr21 19844022 19844023 rs529985792 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19844049 19844050 rs185403632 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19844051 19844052 rs564988934 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 A,G, 4950.000000,58.000000, 0.988419,0.011582, maf-5-some-pop 736 chr21 19844052 19844053 rs527776600 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19844055 19844056 rs569228817 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19844104 19844105 rs773718329 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844107 19844108 rs558755817 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19844120 19844121 rs76420461 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19844135 19844136 rs538201659 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19844159 19844159 rs531724368 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.498277 0.029302 unknown between 1 8 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP, 2 -,A, 2357.000000,2651.000000, 0.470647,0.529353, maf-5-some-pop,maf-5-all-pops 736 chr21 19844160 19844160 rs11379536 0 + - - -/A genomic insertion by-cluster,by-1000genomes 0.5 0 unknown between 1 7 1000GENOMES,BGI,BUSHMAN,GMI,LUNTER,PJP,TISHKOFF, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19844167 19844167 rs397725002 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 3 ABI,GMI,HGSV, 0 736 chr21 19844209 19844210 rs763381193 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844210 19844211 rs556600109 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19844232 19844233 rs575206511 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19844246 19844247 rs771420622 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844248 19844249 rs112608487 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19844289 19844290 rs146713377 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19844301 19844302 rs867459191 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19844309 19844310 rs572578884 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19844333 19844334 rs759588715 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844380 19844381 rs546397802 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19844393 19844394 rs564791019 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19844416 19844417 rs376712680 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19844430 19844431 rs552174160 0 + C C A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 736 chr21 19844433 19844434 rs138594036 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 BL, 0 736 chr21 19844442 19844443 rs35491030 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.084 0.186933 unknown exact 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,T, 220.000000,4788.000000, 0.043930,0.956070, maf-5-some-pop 736 chr21 19844444 19844445 rs397734477 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 736 chr21 19844461 19844462 rs747642873 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19844473 19844474 rs796320085 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19844491 19844492 rs140394343 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19844539 19844540 rs371347636 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19844540 19844541 rs201609608 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844542 19844543 rs2824840 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.499831 0.009184 unknown exact 1 16 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA-UK,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 2458.000000,2550.000000, 0.490815,0.509185, maf-5-some-pop,maf-5-all-pops 736 chr21 19844556 19844557 rs150368503 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19844589 19844589 rs35482822 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19844646 19844647 rs553748866 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19844665 19844668 rs558773769 0 + CTT CTT -/CTT genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 unknown range 1 1 1000GENOMES, 2 -,CTT, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19844684 19844685 rs548218016 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19844712 19844712 rs35247087 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19844718 19844719 rs867539603 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19844744 19844745 rs2824841 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.494815 0.050654 unknown exact 1 22 1000GENOMES,AFFY,BGI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2759.000000,2249.000000, 0.550919,0.449081, maf-5-some-pop,maf-5-all-pops 736 chr21 19844773 19844775 rs34604020 0 + TA TA -/TA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 BILGI_BIOE,PJP, 0 736 chr21 19844773 19844779 rs146722862 0 + TATATA TATATA -/TATATA genomic deletion by-cluster,by-frequency,by-1000genomes 0.372592 0.217879 unknown range 1 MixedObserved 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER, 2 -,TATATA, 3768.000000,1240.000000, 0.752396,0.247604, maf-5-some-pop 736 chr21 19844775 19844779 rs762279195 0 + TATA TATA -/TATA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844792 19844793 rs866833082 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19844793 19844799 rs58650081 0 + TATATA TATATA -/TATATA genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 736 chr21 19844794 19844799 rs750496571 0 + ATATA ATATA -/ATATA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844794 19844800 rs773470148 0 + ATATAC ATATAC -/ATATAC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844797 19844798 rs370750200 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 3 BILGI_BIOE,EVA-GONL,WEILL_CORNELL_DGM, 0 736 chr21 19844797 19844799 rs397686545 0 + TA TA -/TA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved,SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 736 chr21 19844799 19844800 rs866399611 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19844813 19844813 rs61425148 0 + - - -/CA genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 736 chr21 19844856 19844857 rs12626540 0 + A A A/C genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 CSHL-HAPMAP, 1 A, 420.000000, 1.000000, 736 chr21 19844878 19844879 rs761535767 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19844882 19844883 rs556159287 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 736 chr21 19844919 19844920 rs576197168 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19844938 19844939 rs771475680 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19844978 19844979 rs774689250 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19844981 19844982 rs868448307 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19845008 19845009 rs866492823 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19845009 19845010 rs115663796 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 59.000000,4949.000000, 0.011781,0.988219, 736 chr21 19845031 19845032 rs552358931 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19845061 19845062 rs570912151 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845072 19845073 rs750391395 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19845093 19845094 rs538389397 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845096 19845097 rs550189496 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19845105 19845106 rs547831775 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19845141 19845142 rs2824842 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.129664 0.219133 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4659.000000,349.000000, 0.930312,0.069688, maf-5-some-pop 736 chr21 19845142 19845143 rs554140602 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845148 19845149 rs572712753 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845170 19845171 rs539603521 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845200 19845201 rs558380660 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19845210 19845211 rs137920341 0 + A A A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19845221 19845222 rs543939830 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19845222 19845223 rs558691551 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19845223 19845224 rs149041493 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19845255 19845256 rs780129707 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19845262 19845263 rs574067674 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845304 19845305 rs2824843 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.43221 0.171171 unknown exact 1 30 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3426.000000,1582.000000, 0.684105,0.315895, maf-5-some-pop,maf-5-all-pops 736 chr21 19845330 19845331 rs754483042 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19845356 19845357 rs145742748 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19845362 19845363 rs28515672 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,SSAHASNP,TISHKOFF, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19845430 19845431 rs552083363 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845461 19845462 rs11910319 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.027176 0.113356 unknown exact 1 9 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 736 chr21 19845467 19845468 rs531822821 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19845545 19845546 rs550325847 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19845580 19845581 rs568588216 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19845625 19845626 rs181151338 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19845696 19845697 rs186462839 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19845745 19845746 rs547776905 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19845767 19845768 rs190847089 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19845788 19845789 rs540168944 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19845810 19845811 rs557918845 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19845828 19845831 rs375466041 0 + ATA ATA -/ATA genomic deletion by-cluster 0 0 unknown range 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19845887 19845887 rs545956569 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 736 chr21 19845888 19845889 rs138775478 0 + T T C/T genomic single by-frequency,by-1000genomes 0.030665 0.119967 unknown exact 1 1 1000GENOMES, 2 C,T, 78.000000,4930.000000, 0.015575,0.984425, maf-5-some-pop 736 chr21 19845906 19845907 rs115726299 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 56.000000,4952.000000, 0.011182,0.988818, 736 chr21 19845908 19845909 rs367776006 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19845976 19845977 rs555807335 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846003 19846004 rs778174312 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846036 19846037 rs574485683 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19846080 19846083 rs373396008 0 + TTT TTT -/TTT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19846090 19846091 rs757383994 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19846126 19846126 rs752730220 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 736 chr21 19846131 19846132 rs749636734 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846138 19846139 rs541413792 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19846140 19846141 rs535813904 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 4965.000000,43.000000, 0.991414,0.008586, 736 chr21 19846143 19846144 rs2207866 0 + C C C/G genomic single by-cluster,by-2hit-2allele,by-hapmap,by-1000genomes 0 0 unknown exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19846150 19846151 rs774807057 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846217 19846218 rs759565661 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846224 19846225 rs561230501 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19846241 19846242 rs374934626 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19846279 19846280 rs772141157 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846303 19846304 rs546112393 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846321 19846322 rs564249838 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846324 19846325 rs531504866 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846339 19846340 rs543655810 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19846347 19846348 rs562121876 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846352 19846353 rs775589177 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846389 19846390 rs142748211 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19846390 19846391 rs547469883 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19846391 19846392 rs760886033 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846415 19846416 rs527479673 0 + T T A/G genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 736 chr21 19846431 19846432 rs566103073 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846450 19846450 rs574519563 0 + - - -/TT genomic insertion by-frequency,by-1000genomes 0.000798 0.019964 unknown between 1 1 1000GENOMES, 2 -,TT, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19846451 19846453 rs199931809 0 + TA TA -/TA genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 736 chr21 19846461 19846462 rs533438527 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846492 19846498 rs560294512 0 + ATATCC ATATCC -/ATATCC genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 unknown range 1 1 1000GENOMES, 2 -,ATATCC, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19846517 19846518 rs368361251 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19846571 19846572 rs867933018 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19846581 19846582 rs529617660 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19846589 19846590 rs773201283 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846604 19846605 rs542638580 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19846613 19846614 rs67852303 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 2 BL,EVA_GENOME_DK, 0 736 chr21 19846631 19846632 rs537208789 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846690 19846691 rs147513300 0 + C C A/C genomic single by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 1 1000GENOMES, 2 A,C, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 736 chr21 19846693 19846694 rs568060662 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19846699 19846700 rs9985122 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.404907 0.196224 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3596.000000,1412.000000, 0.718051,0.281949, maf-5-some-pop,maf-5-all-pops 736 chr21 19846732 19846733 rs766462791 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846767 19846768 rs190555923 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 MPI_MOLGEN, 0 736 chr21 19846770 19846771 rs531688764 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846777 19846778 rs200853158 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19846780 19846781 rs201573293 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19846798 19846799 rs199517094 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19846804 19846805 rs754473197 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846817 19846818 rs376742577 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19846858 19846859 rs758227235 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19846869 19846870 rs766982235 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846886 19846887 rs572033851 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19846896 19846897 rs180909030 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19846897 19846898 rs142021118 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.089084 0.191327 unknown exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 234.000000,4774.000000, 0.046725,0.953275, maf-5-some-pop 736 chr21 19846900 19846901 rs150684209 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 A,C, 59.000000,4949.000000, 0.011781,0.988219, 736 chr21 19846915 19846916 rs754685155 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19846918 19846919 rs36059787 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19846969 19846970 rs755864820 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19846976 19846977 rs113481913 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009547 0.068523 unknown exact 1 SingleClassTriAllelic 5 1000GENOMES,BUSHMAN,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,G,T, 6.000000,4984.000000,18.000000, 0.001198,0.995208,0.003594, 736 chr21 19847006 19847007 rs139969849 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847007 19847008 rs529871322 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19847027 19847028 rs777376468 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847054 19847055 rs559614860 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847091 19847092 rs749703903 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847112 19847113 rs533327371 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19847139 19847140 rs780797983 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19847173 19847174 rs186404469 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19847207 19847208 rs116424237 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 736 chr21 19847212 19847213 rs747695629 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19847233 19847234 rs757569827 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847236 19847237 rs571416680 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19847240 19847241 rs531156292 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847264 19847265 rs746320012 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847265 19847266 rs772056858 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847283 19847284 rs143619393 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19847292 19847293 rs775696804 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847295 19847296 rs747053108 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847298 19847299 rs567883237 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19847317 19847318 rs527455669 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19847320 19847321 rs191211570 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847328 19847329 rs776968713 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847348 19847349 rs553800952 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847362 19847363 rs73895634 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19847381 19847382 rs182950489 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19847397 19847398 rs547598620 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847410 19847411 rs539397247 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847414 19847415 rs188787210 0 + G G G/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19847426 19847427 rs766231957 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847434 19847435 rs191635735 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19847465 19847466 rs139629639 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847472 19847473 rs537381364 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847473 19847474 rs555252137 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847477 19847480 rs201015528 0 + TTT TTT -/TTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown range 1 1 1000GENOMES, 2 -,TTT, 76.000000,4932.000000, 0.015176,0.984824, maf-5-some-pop 736 chr21 19847499 19847500 rs573753754 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19847513 19847514 rs767354976 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847515 19847516 rs369898396 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19847535 19847536 rs540886630 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847539 19847540 rs559759010 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847570 19847570 rs567433801 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847614 19847615 rs577721010 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847621 19847622 rs144241792 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19847623 19847627 rs745857513 0 + AAAG AAAG -/AAAG genomic deletion unknown 0 0 unknown range 1 1 EVA_GENOME_DK, 0 736 chr21 19847642 19847643 rs536590448 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19847653 19847654 rs145575572 0 + G G G/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 G,T, 4988.000000,20.000000, 0.996006,0.003994, 736 chr21 19847657 19847658 rs79822747 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.10237 0.201756 unknown exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4737.000000,271.000000, 0.945887,0.054113, maf-5-some-pop 736 chr21 19847658 19847659 rs374699537 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19847672 19847673 rs755601324 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847702 19847703 rs549293889 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847714 19847715 rs183149228 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19847721 19847722 rs561443834 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847735 19847736 rs772486024 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19847754 19847755 rs528649948 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847755 19847756 rs763760390 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847778 19847779 rs188028793 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19847780 19847781 rs543191555 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19847791 19847792 rs565720059 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847794 19847806 rs570619388 0 + AGCTACTCAGTA AGCTACTCAGTA -/AGCTACTCAGTA genomic deletion by-frequency,by-1000genomes 0.007163 0.059414 unknown range 1 1 1000GENOMES, 2 -,AGCTACTCAGTA, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19847802 19847803 rs910644 0 + A A A/C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.477768 0.103061 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 25 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 1976.000000,3032.000000, 0.394569,0.605431, maf-5-some-pop,maf-5-all-pops 736 chr21 19847807 19847809 rs537811700 0 + TC TC -/TC genomic deletion by-frequency,by-1000genomes 0.007163 0.059414 unknown range 1 1 1000GENOMES, 2 -,TC, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19847809 19847810 rs551383952 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847833 19847834 rs569699124 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847876 19847877 rs538651012 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19847885 19847886 rs776956540 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19847887 19847888 rs555603610 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847898 19847899 rs746204536 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847904 19847905 rs191253797 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847916 19847917 rs534770518 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19847954 19847955 rs759008891 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19847955 19847956 rs552939931 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19847964 19847965 rs111731176 0 + G G G/T genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19847967 19847968 rs115288104 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4947.000000,61.000000, 0.987819,0.012180, 736 chr21 19847994 19847995 rs183799878 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19847995 19847996 rs558654707 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 736 chr21 19848028 19848029 rs187684982 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19848030 19848031 rs8133105 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.114036 0.209795 unknown exact 1 20 1000GENOMES,AFFY,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4704.000000,304.000000, 0.939297,0.060703, maf-5-some-pop 736 chr21 19848063 19848064 rs192645817 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19848068 19848069 rs551471297 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19848076 19848077 rs185618586 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19848078 19848079 rs747160499 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19848113 19848114 rs547166602 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19848139 19848140 rs768804989 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19848178 19848179 rs62213270 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19848276 19848278 rs149863157 0 + AG AG -/AG genomic deletion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown range 1 2 1000GENOMES,LUNTER, 2 -,AG, 20.000000,4988.000000, 0.003994,0.996006, 736 chr21 19848291 19848292 rs533041906 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19848310 19848311 rs551475460 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19848312 19848313 rs748310353 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19848327 19848328 rs569786376 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19848373 19848374 rs190133873 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19848422 19848423 rs554376748 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19848481 19848482 rs770132048 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19848485 19848486 rs548706392 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19848526 19848527 rs148867053 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19848528 19848529 rs534651993 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19848539 19848540 rs553116778 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19848542 19848543 rs571136795 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19848581 19848582 rs538467583 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19848602 19848603 rs574239972 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19848613 19848614 rs75868963 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19848633 19848634 rs542958944 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19848654 19848655 rs554710312 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19848655 19848656 rs772098135 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19848657 19848657 rs564137925 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown between 1 2 1000GENOMES,SSIP, 2 -,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19848659 19848660 rs142607448 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19848724 19848725 rs540602278 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19848785 19848786 rs543350897 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19848824 19848825 rs151016785 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19848846 19848847 rs532720819 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19848851 19848852 rs544832204 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19848906 19848907 rs142267349 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,G, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19849049 19849050 rs192909611 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19849068 19849069 rs760210196 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849112 19849113 rs766328525 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19849118 19849119 rs763528090 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849128 19849129 rs548954873 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19849147 19849148 rs751403839 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19849160 19849161 rs753502624 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849174 19849175 rs761510307 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849180 19849181 rs2824844 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.108755 0.206276 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4719.000000,289.000000, 0.942292,0.057708, maf-5-some-pop 736 chr21 19849189 19849190 rs750837965 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849213 19849215 rs372486830 0 + TC TC -/TC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 3 EVA_DECODE,EVA_GENOME_DK,LUNTER, 0 736 chr21 19849213 19849217 rs563014720 0 + TCTC TCTC -/TCTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.001207 0.024539 unknown range 1 MixedObserved 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TCTC, 3.000000,4964.000000, 0.000604,0.999396, 736 chr21 19849215 19849217 rs542153250 0 + TC TC -/TC genomic deletion by-cluster,by-frequency,by-1000genomes 0.016249 0.08866 unknown range 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TC, 41.000000,4964.000000, 0.008192,0.991808, 736 chr21 19849220 19849224 rs74681988 0 + CTCT CTCT -/CTCT genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 736 chr21 19849222 19849223 rs200949280 0 + C C -/C genomic deletion by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19849223 19849223 rs199599102 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.171704 0.237423 unknown between 1 3 1000GENOMES,EVA_GENOME_DK,HAMMER_LAB, 2 -,T, 4533.000000,475.000000, 0.905152,0.094848, maf-5-some-pop 736 chr21 19849245 19849246 rs758666225 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849259 19849260 rs371186942 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19849279 19849280 rs752298081 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19849295 19849296 rs780629942 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849299 19849299 rs146878274 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.203575 0.245652 unknown between 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 4432.000000,576.000000, 0.884984,0.115016, maf-5-some-pop 736 chr21 19849303 19849304 rs545016769 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19849326 19849327 rs546548833 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19849332 19849333 rs866406230 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19849333 19849334 rs62213271 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035297 0.128072 unknown exact 1 6 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4918.000000,90.000000, 0.982029,0.017971, maf-5-some-pop 736 chr21 19849349 19849350 rs781484949 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849371 19849372 rs538406251 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19849372 19849373 rs556739697 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19849394 19849395 rs748237072 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849412 19849413 rs770183435 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849413 19849414 rs569004537 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19849417 19849418 rs777838512 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849418 19849419 rs536383511 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19849430 19849431 rs374593493 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19849431 19849432 rs116519569 0 + G G G/T genomic single by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 1 1000GENOMES, 2 G,T, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 736 chr21 19849472 19849473 rs184718840 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 0 736 chr21 19849493 19849494 rs573182559 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19849498 19849499 rs745698983 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849499 19849500 rs771725704 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849527 19849528 rs13046320 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19849559 19849560 rs775502970 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849581 19849582 rs540640020 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19849584 19849585 rs188834415 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19849585 19849586 rs577617721 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19849629 19849630 rs544817781 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19849667 19849668 rs527815910 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19849677 19849678 rs760549300 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849694 19849695 rs563115567 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19849736 19849737 rs768568351 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849774 19849775 rs145813317 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19849797 19849798 rs776190074 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849895 19849896 rs138614609 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19849904 19849905 rs547266810 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849949 19849950 rs761281022 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849975 19849976 rs764987600 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19849997 19849998 rs377378547 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19850011 19850012 rs561059483 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19850015 19850016 rs180865582 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19850122 19850123 rs546197284 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19850125 19850126 rs866766458 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19850132 19850133 rs561184877 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19850140 19850140 rs777076798 0 + - - -/TTA genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 736 chr21 19850161 19850162 rs141235243 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19850182 19850183 rs146950378 0 + A A A/C genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,C, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19850204 19850205 rs550348233 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19850226 19850227 rs763404263 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19850249 19850250 rs185418682 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19850253 19850254 rs17002663 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.082541 0.185628 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 216.000000,4792.000000, 0.043131,0.956869, maf-5-some-pop 736 chr21 19850284 19850285 rs138281423 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19850302 19850303 rs752121147 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19850364 19850365 rs79176427 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.090892 0.192833 unknown exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 239.000000,4769.000000, 0.047724,0.952276, maf-5-some-pop 736 chr21 19850369 19850370 rs533898208 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19850439 19850440 rs559042584 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19850441 19850442 rs772509660 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19850447 19850448 rs189398514 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19850463 19850464 rs538573404 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19850495 19850496 rs865781820 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19850498 19850499 rs556775163 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19850568 19850568 rs140831825 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 unknown between 1 3 1000GENOMES,EVA_DECODE,LUNTER, 2 -,T, 4952.000000,56.000000, 0.988818,0.011182, 736 chr21 19850574 19850575 rs781757243 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19850589 19850590 rs149623894 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19850590 19850591 rs74846980 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 67.000000,4941.000000, 0.013379,0.986621, 736 chr21 19850618 19850618 rs35353416 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19850622 19850623 rs111283958 0 + G G G/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19850643 19850644 rs560780050 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19850652 19850653 rs572898157 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19850686 19850687 rs115379452 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.102726 0.202016 unknown exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 272.000000,4736.000000, 0.054313,0.945687, maf-5-some-pop 736 chr21 19850697 19850716 rs779740699 0 + AACTTTTCATTTTGGAATT AACTTTTCATTTTGGAATT -/AACTTTTCATTTTGGAATT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19850705 19850706 rs8131554 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.420255 0.183066 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 1504.000000,3504.000000, 0.300319,0.699681, maf-5-some-pop 736 chr21 19850709 19850710 rs550016415 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19850741 19850742 rs113780392 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19850744 19850745 rs779770702 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19850752 19850753 rs550487625 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19850762 19850763 rs144326674 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19850770 19850770 rs565762830 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,C, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19850860 19850861 rs746801150 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19850861 19850862 rs148389010 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19850893 19850894 rs548369473 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19850896 19850897 rs566851851 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19850928 19850929 rs543596470 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19850941 19850942 rs77992604 0 + T T C/T genomic single by-frequency,by-1000genomes 0.035297 0.128072 unknown exact 1 1 1000GENOMES, 2 C,T, 90.000000,4918.000000, 0.017971,0.982029, maf-5-some-pop 736 chr21 19850956 19850957 rs552589747 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19850970 19850971 rs776525769 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19850988 19850989 rs9637048 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.469445 0.119766 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3123.000000,1885.000000, 0.623602,0.376398, maf-5-some-pop 736 chr21 19851001 19851002 rs554067248 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851095 19851096 rs868053755 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19851126 19851127 rs772918327 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851155 19851156 rs766265942 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19851184 19851185 rs374352747 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19851223 19851224 rs77706974 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 736 chr21 19851249 19851250 rs114730553 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 unknown exact 1 5 1000GENOMES,HAMMER_LAB,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 89.000000,4919.000000, 0.017772,0.982228, maf-5-some-pop 736 chr21 19851368 19851369 rs146302365 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 55.000000,4953.000000, 0.010982,0.989018, 736 chr21 19851390 19851391 rs368413510 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19851414 19851414 rs35954760 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19851458 19851459 rs535627286 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19851460 19851461 rs766054183 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851463 19851464 rs774900267 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851481 19851481 rs553553444 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,A, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19851490 19851491 rs759347737 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19851507 19851508 rs542868976 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19851512 19851513 rs554391092 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19851553 19851554 rs759959923 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851555 19851556 rs767242815 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19851589 19851590 rs768163709 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851631 19851632 rs372186016 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19851680 19851681 rs752711825 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,EVA_GENOME_DK, 0 736 chr21 19851692 19851693 rs756224358 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851694 19851695 rs539970139 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19851736 19851737 rs2824845 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.492966 0.058886 unknown exact 1 27 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 2801.000000,2207.000000, 0.559305,0.440695, maf-5-some-pop,genotype-conflict 736 chr21 19851754 19851755 rs576400157 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19851758 19851759 rs62213272 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19851792 19851793 rs757486766 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851794 19851795 rs9305869 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.160938 0.233598 unknown exact 1 19 1000GENOMES,AFFY,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 4566.000000,442.000000, 0.911741,0.088259, maf-5-some-pop 736 chr21 19851820 19851821 rs530053288 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19851872 19851873 rs746854127 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19851876 19851877 rs548076130 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19851914 19851915 rs139484647 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19851937 19851938 rs756752969 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19851938 19851939 rs527764051 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19851939 19851940 rs367697239 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19851945 19851946 rs371825544 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19851964 19851965 rs552676765 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19851967 19851968 rs9305870 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.100588 0.200439 unknown exact 1 14 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 4742.000000,266.000000, 0.946885,0.053115, maf-5-some-pop 736 chr21 19852000 19852001 rs781136964 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19852006 19852007 rs531696870 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852029 19852030 rs150649644 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19852031 19852032 rs769356163 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19852067 19852068 rs772652311 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19852101 19852102 rs568656236 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852107 19852108 rs536185871 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852141 19852142 rs564979149 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19852177 19852178 rs181811081 0 + C C C/G genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,G, 4988.000000,20.000000, 0.996006,0.003994, 736 chr21 19852205 19852206 rs565958890 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19852206 19852207 rs139751123 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852212 19852213 rs112708948 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 11 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,MPI_MOLGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19852214 19852215 rs187295140 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 736 chr21 19852254 19852255 rs191627207 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19852265 19852266 rs9975797 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.056983 0.158885 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 147.000000,4861.000000, 0.029353,0.970647, maf-5-some-pop 736 chr21 19852289 19852290 rs574631416 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19852311 19852312 rs769150833 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19852312 19852313 rs183612367 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19852376 19852377 rs142286464 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022114 0.102801 unknown exact 1 3 1000GENOMES,EVA_DECODE,WEILL_CORNELL_DGM, 2 C,T, 56.000000,4952.000000, 0.011182,0.988818, 736 chr21 19852393 19852394 rs560210833 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19852394 19852395 rs527450443 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19852407 19852408 rs369439267 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19852415 19852416 rs186545727 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19852444 19852445 rs144470116 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19852452 19852453 rs550406135 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19852472 19852473 rs531888030 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19852473 19852474 rs549897465 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19852494 19852495 rs190222989 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19852521 19852522 rs2824846 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.376394 0.215696 unknown exact 1 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 1259.000000,3749.000000, 0.251398,0.748602, maf-5-some-pop 736 chr21 19852544 19852545 rs760012948 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19852545 19852546 rs548039864 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852561 19852562 rs377040660 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19852564 19852565 rs566047190 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19852577 19852578 rs779534145 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19852592 19852593 rs539599183 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19852604 19852605 rs58118444 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19852605 19852606 rs60238781 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 25.000000,4983.000000, 0.004992,0.995008, 736 chr21 19852616 19852617 rs570206300 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852627 19852628 rs112238540 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19852637 19852638 rs767928583 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19852640 19852641 rs9976176 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.056983 0.158885 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 147.000000,4861.000000, 0.029353,0.970647, maf-5-some-pop 736 chr21 19852648 19852649 rs182153701 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19852657 19852658 rs868461330 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19852724 19852725 rs574347627 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19852765 19852766 rs9976273 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.057359 0.15934 unknown exact 1 10 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 148.000000,4860.000000, 0.029553,0.970447, maf-5-some-pop 736 chr21 19852829 19852830 rs554068741 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19852843 19852844 rs147777695 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19852844 19852845 rs546015943 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852847 19852848 rs79444512 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.057359 0.15934 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4860.000000,148.000000, 0.970447,0.029553, maf-5-some-pop 736 chr21 19852854 19852855 rs868275257 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19852912 19852913 rs76126739 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.057359 0.15934 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 148.000000,4860.000000, 0.029553,0.970447, maf-5-some-pop 736 chr21 19852921 19852922 rs2824847 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.446249 0.154875 unknown exact 1 26 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3325.000000,1683.000000, 0.663938,0.336062, maf-5-some-pop,maf-5-all-pops 736 chr21 19852927 19852928 rs562060254 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852932 19852933 rs529251210 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19852945 19852946 rs773450276 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19852959 19852960 rs529866480 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19853023 19853024 rs186546219 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853036 19853037 rs549735556 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19853061 19853066 rs144596302 0 + AAGGG AAGGG -/AAGGG genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 2 1000GENOMES,LUNTER, 0 736 chr21 19853137 19853138 rs191370232 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853160 19853163 rs539189100 0 + TTG TTG -/TTG genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 unknown range 1 1 1000GENOMES, 2 -,TTG, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19853226 19853227 rs374446485 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19853233 19853234 rs79538026 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19853239 19853240 rs60410106 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19853241 19853242 rs57656281 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19853283 19853284 rs770992419 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19853291 19853292 rs9976562 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.057359 0.15934 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4860.000000,148.000000, 0.970447,0.029553, maf-5-some-pop 736 chr21 19853310 19853311 rs774284323 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19853336 19853337 rs759398440 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19853345 19853346 rs569946793 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853378 19853379 rs754770839 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19853381 19853382 rs183868685 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853385 19853386 rs549814035 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19853401 19853402 rs568073211 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853403 19853404 rs188812926 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19853418 19853419 rs767434998 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19853421 19853422 rs752543557 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19853424 19853425 rs553848555 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19853448 19853449 rs572360846 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853478 19853479 rs143437887 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853500 19853500 rs71318140 0 + - - -/TAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown between 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER, 2 -,TAT, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19853501 19853501 rs147764209 0 + - - -/TAT genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19853504 19853504 rs34479735 0 + - - -/ATT genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 ATT, 2.000000, 1.000000, 736 chr21 19853549 19853550 rs532480462 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19853576 19853577 rs8128855 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WI_SSAHASNP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19853580 19853581 rs747959214 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19853589 19853590 rs756050464 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19853613 19853614 rs576155615 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19853615 19853616 rs193089728 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19853672 19853673 rs140775578 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19853680 19853681 rs2824848 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.433527 0.169758 unknown exact 1 25 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3417.000000,1591.000000, 0.682308,0.317692, maf-5-some-pop,maf-5-all-pops 736 chr21 19853693 19853695 rs777769993 0 + AG AG -/AG genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19853707 19853708 rs185350726 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19853715 19853716 rs188586173 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19853788 19853789 rs533426935 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853820 19853821 rs112311513 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19853822 19853823 rs770528692 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19853823 19853824 rs565724525 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19853840 19853841 rs191886783 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19853841 19853842 rs184226692 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19853893 19853894 rs531094805 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19853896 19853897 rs188165968 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853905 19853906 rs568143066 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19853922 19853923 rs548226912 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19853949 19853950 rs535236788 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19853963 19853964 rs749949613 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19853993 19853994 rs180857475 0 + A A A/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854000 19854001 rs370083840 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4947.000000,61.000000, 0.987819,0.012180, maf-5-some-pop 736 chr21 19854047 19854048 rs113873368 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19854048 19854049 rs781759371 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19854071 19854072 rs748504059 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19854101 19854102 rs150247564 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19854113 19854114 rs79202350 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19854136 19854137 rs576264995 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19854174 19854175 rs536827400 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19854215 19854216 rs1041407 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.437259 0.165632 unknown exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3391.000000,1617.000000, 0.677117,0.322883, maf-5-some-pop,maf-5-all-pops 736 chr21 19854216 19854217 rs555315059 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19854230 19854231 rs138860389 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19854303 19854304 rs187363642 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19854327 19854328 rs559445410 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19854331 19854332 rs577581351 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854378 19854379 rs560842051 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19854379 19854380 rs545012383 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19854393 19854396 rs528720509 0 + ATT ATT -/ATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,ATT, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19854434 19854435 rs190583939 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19854442 19854443 rs529827006 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19854451 19854452 rs558829072 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19854452 19854453 rs9982371 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.055854 0.157504 unknown exact 1 MixedObserved 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 144.000000,4864.000000, 0.028754,0.971246, maf-5-some-pop 736 chr21 19854452 19854453 rs572367792 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 EVA-GONL, 0 736 chr21 19854466 19854467 rs543195216 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19854480 19854481 rs181754580 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854493 19854494 rs528961489 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854502 19854503 rs866552217 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19854508 19854509 rs569950141 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19854537 19854538 rs547483970 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19854545 19854546 rs565793478 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854553 19854554 rs73327815 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 4875.000000,133.000000, 0.973442,0.026557, maf-5-some-pop 736 chr21 19854611 19854612 rs551398003 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19854612 19854613 rs569925806 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854649 19854650 rs142266348 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19854684 19854685 rs555519626 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854687 19854688 rs145863024 0 + A A A/G genomic single by-frequency,by-1000genomes 0.034911 0.127424 unknown exact 1 1 1000GENOMES, 2 A,G, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 736 chr21 19854697 19854698 rs866725129 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19854701 19854702 rs138469147 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19854713 19854714 rs13046598 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19854723 19854723 rs570388948 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 1 1000GENOMES, 2 -,A, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19854771 19854772 rs1569902 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.437824 0.164991 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1621.000000,3387.000000, 0.323682,0.676318, maf-5-some-pop,maf-5-all-pops 736 chr21 19854772 19854773 rs142790095 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19854779 19854780 rs144230975 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19854795 19854796 rs186007669 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19854803 19854804 rs190568167 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19854912 19854916 rs576180432 0 + TTTA TTTA -/TTTA genomic deletion by-frequency,by-1000genomes 0.005575 0.052504 unknown range 1 1 1000GENOMES, 2 -,TTTA, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19854920 19854924 rs61244277 0 + TTTA TTTA -/TTTA genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 736 chr21 19854942 19854943 rs750655225 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19854989 19854990 rs148753767 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19854991 19854992 rs141448562 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 55.000000,4953.000000, 0.010982,0.989018, 736 chr21 19854992 19854993 rs528658798 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19855013 19855013 rs34746341 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19855066 19855067 rs150563914 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4978.000000,30.000000, 0.994010,0.005990, 736 chr21 19855067 19855068 rs538961947 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19855086 19855087 rs552199212 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19855106 19855107 rs78650444 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.057359 0.15934 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4860.000000,148.000000, 0.970447,0.029553, maf-5-some-pop 736 chr21 19855111 19855112 rs763214909 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855162 19855163 rs551381964 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855165 19855166 rs374198106 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19855183 19855184 rs569580909 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855202 19855203 rs374094600 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19855231 19855232 rs548975799 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855234 19855235 rs543629333 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855245 19855246 rs368316251 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19855267 19855268 rs534466469 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19855274 19855275 rs182436164 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855278 19855279 rs571400013 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19855302 19855303 rs80175169 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 20.000000,4988.000000, 0.003994,0.996006, maf-5-some-pop 736 chr21 19855302 19855302 rs34686721 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 ABI, 0 736 chr21 19855361 19855362 rs185485543 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19855365 19855366 rs532446625 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19855385 19855386 rs755893316 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855401 19855402 rs777605532 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855411 19855412 rs866085252 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19855416 19855417 rs575519286 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855422 19855423 rs536665431 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855432 19855432 rs35148787 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19855468 19855469 rs370878071 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19855524 19855525 rs554923109 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19855544 19855545 rs760411822 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19855561 19855562 rs76076577 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 unknown exact 1 10 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4937.000000,71.000000, 0.985823,0.014177, maf-5-some-pop 736 chr21 19855587 19855588 rs140478000 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19855641 19855642 rs565514158 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855642 19855643 rs577792165 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855643 19855644 rs926989 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.447032 0.153878 unknown exact 1 26 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 1689.000000,3319.000000, 0.337260,0.662740, maf-5-some-pop,maf-5-all-pops 736 chr21 19855670 19855671 rs559398693 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855728 19855729 rs745366831 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855742 19855743 rs557351595 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4964.000000,44.000000, 0.991214,0.008786, 736 chr21 19855801 19855802 rs771890185 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855820 19855821 rs9974575 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 5 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 736 chr21 19855837 19855838 rs779735223 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855857 19855858 rs147859655 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19855882 19855883 rs926990 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.376592 0.215579 unknown exact 1 26 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3748.000000,1260.000000, 0.748403,0.251597, maf-5-some-pop 736 chr21 19855884 19855885 rs769023064 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19855892 19855893 rs367699802 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19855896 19855897 rs189557333 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19855916 19855917 rs139744530 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19855941 19855942 rs753612946 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19855952 19855953 rs538465724 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19855958 19855959 rs550760710 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19855995 19855996 rs182728281 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19856024 19856025 rs536205087 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19856085 19856086 rs554994789 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19856142 19856143 rs367829491 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19856180 19856181 rs757952788 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19856192 19856193 rs762248287 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19856222 19856223 rs149890829 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19856246 19856247 rs770267823 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19856291 19856292 rs534526448 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19856324 19856325 rs559314749 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19856434 19856435 rs144888516 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19856471 19856472 rs149059910 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19856473 19856474 rs563192516 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19856494 19856495 rs575347423 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19856576 19856577 rs773344228 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19856620 19856621 rs542251518 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19856639 19856640 rs547900083 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19856646 19856647 rs763002143 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19856653 19856654 rs568131507 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19856661 19856662 rs17002664 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.106633 0.204807 unknown exact 1 14 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4725.000000,283.000000, 0.943490,0.056510, maf-5-some-pop 736 chr21 19856711 19856712 rs189041025 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19856742 19856743 rs546459639 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19856820 19856820 rs776713906 0 + - - -/G genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19856830 19856831 rs564847847 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19856835 19856836 rs2824849 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.375797 0.216044 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3752.000000,1256.000000, 0.749201,0.250799, maf-5-some-pop 736 chr21 19856847 19856848 rs550753826 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19856848 19856849 rs192049940 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 35.000000,4973.000000, 0.006989,0.993011, 736 chr21 19856853 19856857 rs770893333 0 + ATTC ATTC -/ATTC genomic deletion by-cluster 0 0 unknown range 1 DuplicateObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19856853 19856853 rs756445517 0 + - - -/ATTC genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 EVA_DECODE, 0 736 chr21 19856931 19856932 rs536791837 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19856940 19856941 rs143064018 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 68.000000,4940.000000, 0.013578,0.986422, 736 chr21 19856960 19856961 rs566844715 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19857005 19857006 rs534201297 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857035 19857036 rs778128540 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19857049 19857050 rs559253854 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19857053 19857054 rs571168048 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19857054 19857055 rs146852090 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19857090 19857091 rs556758633 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19857100 19857101 rs368425390 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19857102 19857103 rs575236023 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19857108 19857109 rs545281862 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19857109 19857110 rs763892106 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857116 19857117 rs183594301 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19857167 19857167 rs749611189 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 736 chr21 19857197 19857198 rs753563192 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857209 19857210 rs554263784 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19857225 19857226 rs569867093 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19857234 19857235 rs757330727 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857241 19857242 rs778963075 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857252 19857253 rs187396644 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857262 19857263 rs779083896 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19857317 19857318 rs192239873 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19857336 19857341 rs766516007 0 + TTGAG TTGAG -/TTGAG genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19857345 19857346 rs564790556 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19857378 19857379 rs745985125 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19857411 19857412 rs140681691 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19857432 19857433 rs544067095 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857461 19857462 rs565707851 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 G,T, 48.000000,4960.000000, 0.009585,0.990415, 736 chr21 19857465 19857466 rs116614152 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 109.000000,4899.000000, 0.021765,0.978235, maf-5-some-pop 736 chr21 19857480 19857481 rs538854667 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19857501 19857507 rs558789209 0 + CATTTA CATTTA -/CATTTA genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 736 chr21 19857512 19857513 rs757932277 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857520 19857521 rs145770729 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19857524 19857525 rs566263049 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19857546 19857550 rs200959498 0 + AATA AATA -/AATA genomic deletion by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown range 1 1 1000GENOMES, 2 -,AATA, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19857583 19857584 rs558906155 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19857587 19857588 rs80239709 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 MixedObserved 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19857587 19857590 rs772092909 0 + ATG ATG -/ATG genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 EVA_DECODE, 0 736 chr21 19857594 19857595 rs779602592 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857604 19857605 rs369416613 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19857605 19857606 rs566980477 0 + T T C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857618 19857619 rs527638707 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857619 19857620 rs75080173 0 + A A A/G genomic single by-1000genomes 0.016806 0.090113 unknown exact 1 1 1000GENOMES, 2 A,G, 117.000000,1.000000, 0.991525,0.008475, 736 chr21 19857624 19857624 rs541388909 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 unknown between 1 1 1000GENOMES, 2 -,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19857633 19857634 rs781662165 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857635 19857638 rs774339657 0 + CTT CTT -/CTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19857637 19857638 rs552654022 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857638 19857639 rs372429622 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19857639 19857640 rs372202025 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857645 19857646 rs538566457 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857659 19857660 rs556459785 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19857680 19857681 rs568610367 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19857715 19857716 rs535685254 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19857820 19857821 rs207477761 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 736 chr21 19857830 19857832 rs540785733 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 1 SSIP, 0 736 chr21 19857883 19857884 rs575150741 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19857893 19857894 rs554200372 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19857934 19857935 rs9981187 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.027565 0.114116 unknown exact 1 5 1000GENOMES,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 736 chr21 19857950 19857951 rs543841929 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19857956 19857957 rs775304985 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19857997 19857998 rs534993318 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858069 19858070 rs59675119 0 + C C -/C genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 15 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_EXAC,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,C, 5026.000000,0.000000, 1.000000,0.000000, 736 chr21 19858071 19858072 rs398081480 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 BGI, 0 736 chr21 19858072 19858073 rs201061875 0 + C C A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 736 chr21 19858072 19858073 rs398036186 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 2 HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 736 chr21 19858072 19858073 rs869090855 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 DEVINE_LAB, 0 736 chr21 19858080 19858081 rs558170679 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858117 19858118 rs1740176 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 unknown exact 1 13 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_EXAC,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4737.000000,273.000000, 0.945509,0.054491, maf-5-some-pop 736 chr21 19858120 19858121 rs183974990 0 + C C C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_EXAC, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858122 19858123 rs562656539 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858123 19858124 rs529857731 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858142 19858143 rs542050126 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858157 19858158 rs560567644 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858158 19858159 rs187195940 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 4 1000GENOMES,EVA_EXAC,HAMMER_LAB,TISHKOFF, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 736 chr21 19858163 19858164 rs770322723 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858174 19858175 rs150194884 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19858187 19858188 rs773663484 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858188 19858189 rs113202449 0 + G G A/G genomic single by-cluster 0.5 0 unknown exact 1 4 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19858189 19858190 rs570854854 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858196 19858197 rs770979848 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858201 19858202 rs557495779 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19858204 19858205 rs865785373 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19858210 19858211 rs868092667 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19858211 19858212 rs534330297 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19858265 19858266 rs28483370 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 unknown exact 1 11 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4940.000000,68.000000, 0.986422,0.013578, 736 chr21 19858266 19858267 rs149383484 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19858267 19858268 rs547631148 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858271 19858272 rs566220455 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858276 19858277 rs377187718 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19858289 19858290 rs1735745 0 + T T C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.475965 0.106957 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3053.000000,1955.000000, 0.609625,0.390375, maf-5-some-pop,maf-5-all-pops 736 chr21 19858301 19858302 rs558244920 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858309 19858310 rs576740053 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858317 19858318 rs559570039 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19858319 19858320 rs112584766 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19858320 19858321 rs139963042 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19858344 19858345 rs556378047 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19858354 19858355 rs574690057 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858363 19858364 rs142821992 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858377 19858378 rs867937121 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19858406 19858407 rs560425557 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19858414 19858415 rs772962080 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19858439 19858440 rs147404152 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19858472 19858473 rs113337827 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19858485 19858486 rs192714516 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19858517 19858518 rs761679355 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858520 19858521 rs9975848 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4865.000000,143.000000, 0.971446,0.028554, maf-5-some-pop 736 chr21 19858539 19858540 rs184473041 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19858547 19858548 rs549907474 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858550 19858551 rs190580188 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 736 chr21 19858571 19858572 rs9978292 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 68.000000,4940.000000, 0.013578,0.986422, 736 chr21 19858618 19858619 rs551626761 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19858651 19858652 rs765854477 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858730 19858730 rs531500632 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.007163 0.059414 unknown between 1 1 1000GENOMES, 2 -,T, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19858781 19858782 rs561574287 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858798 19858799 rs142644790 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19858815 19858816 rs565960906 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858826 19858827 rs150937078 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858851 19858852 rs552211022 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858867 19858868 rs117443795 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010729 0.072492 unknown exact 1 SingleClassTriAllelic 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 3 A,C,T, 2.000000,4981.000000,25.000000, 0.000399,0.994609,0.004992, 736 chr21 19858888 19858891 rs775077573 0 + AGA AGA -/AGA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858894 19858895 rs531268699 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19858902 19858903 rs780674036 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858928 19858929 rs139444270 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19858943 19858944 rs373510337 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19858960 19858961 rs574772157 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858970 19858971 rs748538319 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19858984 19858985 rs181971802 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19858988 19858989 rs756434062 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19859027 19859028 rs554132093 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19859044 19859045 rs149662288 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 28.000000,4980.000000, 0.005591,0.994409, 736 chr21 19859090 19859091 rs184780930 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19859125 19859127 rs563852207 0 + AT AT -/AT genomic deletion by-cluster 0 0 unknown range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19859175 19859176 rs146702710 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 4 1000GENOMES,HAMMER_LAB,SSMP,TISHKOFF, 2 C,T, 4960.000000,48.000000, 0.990415,0.009585, 736 chr21 19859176 19859177 rs576505002 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19859194 19859195 rs114008618 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 5 1000GENOMES,EVA_DECODE,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 736 chr21 19859216 19859217 rs561974575 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19859236 19859237 rs532272148 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 ILLUMINA, 0 736 chr21 19859253 19859254 rs532537235 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19859262 19859262 rs754227318 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 736 chr21 19859275 19859275 rs397867018 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19859279 19859280 rs749740733 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19859286 19859287 rs867461626 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19859306 19859307 rs554601294 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19859381 19859386 rs148856569 0 + ATAAT ATAAT -/ATAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown range 1 4 1000GENOMES,HAMMER_LAB,LUNTER,SSMP, 2 -,ATAAT, 52.000000,4956.000000, 0.010383,0.989617, 736 chr21 19859384 19859389 rs373355072 0 + ATATA ATATA -/ATATA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19859394 19859395 rs771330894 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19859404 19859405 rs567696393 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19859412 19859413 rs1735748 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.103082 0.202275 unknown exact 1 18 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 273.000000,4735.000000, 0.054513,0.945487, maf-5-some-pop 736 chr21 19859424 19859425 rs80046330 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.040288 0.136092 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4905.000000,103.000000, 0.979433,0.020567, maf-5-some-pop 736 chr21 19859476 19859477 rs140286652 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19859493 19859494 rs570517358 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19859522 19859523 rs574467821 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19859545 19859546 rs549732060 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19859650 19859651 rs369109350 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19859651 19859652 rs114561781 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19859695 19859696 rs535460522 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19859721 19859722 rs554066365 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19859724 19859725 rs188757324 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19859746 19859747 rs775804563 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19859757 19859758 rs750588401 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19859810 19859811 rs539614776 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19859830 19859831 rs77386887 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 736 chr21 19859842 19859843 rs761730598 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19859843 19859844 rs765055635 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19859857 19859858 rs375981149 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19859914 19859915 rs758479674 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19859944 19859945 rs780247545 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19859962 19859963 rs74950594 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.173965 0.238157 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4526.000000,482.000000, 0.903754,0.096246, maf-5-some-pop 736 chr21 19859998 19859999 rs144440533 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 34.000000,4974.000000, 0.006789,0.993211, 736 chr21 19860041 19860042 rs78527964 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19860098 19860099 rs555462905 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19860162 19860163 rs573659268 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19860210 19860211 rs116704843 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 4 1000GENOMES,EVA_DECODE,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4963.000000,45.000000, 0.991014,0.008986, 736 chr21 19860253 19860254 rs538180262 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19860267 19860268 rs554265374 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19860277 19860278 rs559617264 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19860294 19860295 rs747989756 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19860348 19860349 rs112841070 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 unknown exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 170.000000,4838.000000, 0.033946,0.966054, maf-5-some-pop 736 chr21 19860353 19860354 rs146594198 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 736 chr21 19860431 19860432 rs563761500 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19860437 19860438 rs181576206 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19860455 19860456 rs371936517 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19860531 19860532 rs773009259 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19860533 19860534 rs73327824 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.077848 0.181535 unknown exact 1 SingleClassTriAllelic 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 3 A,G,T, 199.000000,4805.000000,4.000000, 0.039736,0.959465,0.000799, maf-5-some-pop 736 chr21 19860573 19860574 rs754421819 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19860576 19860577 rs185432817 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19860579 19860580 rs374345224 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19860644 19860645 rs547459862 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19860645 19860646 rs2839860 0 + G G G/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 G, 418.000000, 1.000000, 736 chr21 19860646 19860647 rs9982401 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 A,G, 4975.000000,33.000000, 0.993411,0.006589, 736 chr21 19860688 19860689 rs143381100 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,G, 26.000000,4982.000000, 0.005192,0.994808, 736 chr21 19860693 19860694 rs559833166 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19860699 19860700 rs557911963 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19860799 19860800 rs191367403 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19860809 19860810 rs73198367 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.170084 0.236883 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4538.000000,470.000000, 0.906150,0.093850, maf-5-some-pop 736 chr21 19860811 19860812 rs148303486 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19860820 19860821 rs573844806 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19860838 19860839 rs140464802 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19860843 19860844 rs180797063 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19860847 19860848 rs552984358 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19860854 19860855 rs578182774 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19860858 19860859 rs545352309 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19860878 19860879 rs545179269 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19860885 19860886 rs147030755 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19860934 19860935 rs868682802 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19860992 19860993 rs754198230 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861025 19861026 rs757822766 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861035 19861036 rs530973965 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19861093 19861094 rs543244915 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861098 19861099 rs374723867 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19861104 19861105 rs536411294 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19861105 19861106 rs556371030 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19861166 19861167 rs561762082 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19861176 19861177 rs552933414 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861185 19861186 rs764701092 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19861219 19861220 rs573089409 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19861308 19861309 rs138437918 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19861316 19861317 rs559417945 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861321 19861322 rs367686349 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19861333 19861334 rs532963688 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861422 19861423 rs143908966 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19861506 19861507 rs1735753 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.429087 0.174436 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3447.000000,1561.000000, 0.688299,0.311701, maf-5-some-pop,maf-5-all-pops 736 chr21 19861524 19861525 rs139821324 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 7 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19861558 19861558 rs765520412 0 + - - -/CAT genomic insertion by-cluster 0 0 unknown between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861582 19861583 rs147407434 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19861587 19861588 rs375093518 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19861590 19861591 rs773203528 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861595 19861596 rs567406695 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19861696 19861697 rs138084805 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19861697 19861698 rs553075989 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19861722 19861723 rs186085712 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861746 19861747 rs77270230 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19861747 19861748 rs774119885 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861756 19861757 rs557321835 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861765 19861766 rs575938321 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19861770 19861771 rs759092806 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861791 19861792 rs563813544 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19861811 19861812 rs561498039 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19861818 19861819 rs573756969 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861829 19861830 rs191084831 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19861862 19861863 rs532895658 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19861886 19861887 rs552732096 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861947 19861948 rs144179135 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19861951 19861952 rs559745333 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861965 19861966 rs375797163 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19861973 19861974 rs763705412 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861976 19861977 rs532751504 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19861977 19861978 rs551403434 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861986 19861987 rs757517000 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19861987 19861988 rs28507079 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,HAMMER_LAB,SSAHASNP,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19861999 19862000 rs530870593 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19861999 19862000 rs765906542 0 + C C -/C genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862003 19862004 rs779504130 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862019 19862020 rs548746543 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862028 19862029 rs567097466 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862032 19862033 rs534525927 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19862033 19862034 rs114219730 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 736 chr21 19862042 19862043 rs528691065 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19862046 19862047 rs183276438 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19862051 19862052 rs754975143 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19862053 19862054 rs538650640 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19862076 19862077 rs557363794 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19862112 19862113 rs575830575 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862132 19862133 rs536971143 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19862134 19862135 rs1624371 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.280256 0.248162 unknown exact 1 24 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4164.000000,844.000000, 0.831470,0.168530, maf-5-some-pop,maf-5-all-pops 736 chr21 19862146 19862147 rs187898193 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19862179 19862180 rs142084962 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19862212 19862213 rs559181509 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862224 19862225 rs576327420 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19862238 19862241 rs143474525 0 + GTG GTG -/GTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown range 1 3 1000GENOMES,EVA_DECODE,LUNTER, 2 -,GTG, 44.000000,4964.000000, 0.008786,0.991214, 736 chr21 19862243 19862244 rs577708501 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862265 19862266 rs544664161 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862271 19862272 rs9653746 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,SC_SNP,WEILL_CORNELL_DGM, 2 C,T, 4848.000000,160.000000, 0.968051,0.031949, maf-5-some-pop 736 chr21 19862272 19862273 rs530447783 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19862305 19862306 rs545337272 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19862339 19862340 rs568787022 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862397 19862398 rs747077885 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862445 19862446 rs190466436 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19862466 19862467 rs537415135 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19862514 19862515 rs113010170 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 4 1000GENOMES,BUSHMAN,HAMMER_LAB,TISHKOFF, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19862529 19862530 rs528227312 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862560 19862561 rs551023521 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862565 19862566 rs139207066 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19862597 19862608 rs145465319 0 + TAAGATGGAAT TAAGATGGAAT -/TAAGATGGAAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown range 1 2 1000GENOMES,LUNTER, 2 -,TAAGATGGAAT, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19862599 19862600 rs781540217 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862615 19862616 rs372305810 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19862660 19862661 rs749127562 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862722 19862723 rs144016109 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19862724 19862725 rs770568504 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862746 19862747 rs115216881 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4939.000000,69.000000, 0.986222,0.013778, maf-5-some-pop 736 chr21 19862754 19862755 rs777774285 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19862761 19862762 rs569205694 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19862776 19862777 rs2824851 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.018594 0.094611 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 47.000000,4961.000000, 0.009385,0.990615, maf-5-some-pop 736 chr21 19862784 19862785 rs539985454 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19862788 19862789 rs770665411 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19862868 19862869 rs759453491 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862869 19862870 rs552079134 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19862883 19862884 rs146614040 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19862901 19862902 rs773844045 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19862919 19862920 rs534384121 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19862928 19862929 rs183206522 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19862930 19862931 rs771996734 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19862961 19862962 rs141027040 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19862972 19862973 rs577644475 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19863012 19863013 rs187091206 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19863040 19863041 rs149821443 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 736 chr21 19863047 19863048 rs759116928 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19863125 19863126 rs192777842 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19863139 19863140 rs542221899 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19863164 19863165 rs111441370 0 + C C C/T genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,EVA_DECODE,JMKIDD_LAB, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19863165 19863166 rs145880952 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19863166 19863167 rs528408093 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 736 chr21 19863208 19863209 rs184953124 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19863293 19863294 rs565114499 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19863326 19863327 rs187514024 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19863334 19863335 rs372762897 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19863344 19863345 rs149006577 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19863345 19863346 rs553435388 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19863346 19863347 rs569381322 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19863366 19863367 rs373668771 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19863373 19863374 rs530068643 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19863422 19863423 rs548644185 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19863443 19863444 rs567155462 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19863468 19863469 rs113637764 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19863473 19863474 rs763760570 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19863538 19863539 rs572910481 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19863610 19863611 rs376891371 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19863637 19863638 rs554859249 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19863691 19863692 rs559010006 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19863696 19863697 rs776108545 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19863743 19863744 rs762241800 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19863745 19863746 rs115735387 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4932.000000,76.000000, 0.984824,0.015176, maf-5-some-pop 736 chr21 19863747 19863748 rs538066622 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19863752 19863753 rs765460252 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19863757 19863758 rs147046908 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 32.000000,4976.000000, 0.006390,0.993610, 736 chr21 19863774 19863775 rs575044303 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19863784 19863785 rs184555400 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19863811 19863813 rs535623782 0 + TC TC -/TC genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,TC, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19863812 19863813 rs554175657 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19863834 19863835 rs572777392 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19863836 19863837 rs540489941 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19863849 19863850 rs112790254 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19863908 19863909 rs138253925 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19863927 19863928 rs750786587 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19863939 19863940 rs759036625 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19863950 19863951 rs576927077 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19863951 19863952 rs766957449 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19863959 19863960 rs376010979 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19863976 19863977 rs533567540 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19863992 19863993 rs189484197 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19864000 19864001 rs553382967 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19864001 19864002 rs181547438 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19864009 19864010 rs142456277 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864086 19864087 rs535652300 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19864098 19864099 rs184433617 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19864105 19864106 rs548581019 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864122 19864124 rs555343457 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 736 chr21 19864145 19864146 rs560483747 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864185 19864186 rs575187231 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864190 19864191 rs543787577 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864236 19864237 rs781572883 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864250 19864251 rs368990288 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19864262 19864264 rs750954507 0 + GT GT -/GT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864263 19864264 rs563782545 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19864281 19864282 rs372565246 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19864327 19864328 rs552798145 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864349 19864350 rs577318068 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19864354 19864355 rs773616243 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19864362 19864363 rs539903301 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19864367 19864368 rs189781243 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19864374 19864375 rs756350852 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864379 19864380 rs181146940 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19864418 19864419 rs146486758 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19864465 19864466 rs148320547 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19864469 19864470 rs535967063 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19864482 19864483 rs554263979 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19864497 19864498 rs560204609 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19864523 19864524 rs7279524 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.022504 0.103662 unknown exact 1 8 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4951.000000,57.000000, 0.988618,0.011382, 736 chr21 19864574 19864574 rs766659340 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 736 chr21 19864591 19864592 rs150560948 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864604 19864605 rs558767924 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19864641 19864642 rs772046149 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864685 19864686 rs186647354 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864729 19864730 rs775359317 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864733 19864734 rs746553876 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864781 19864782 rs113641359 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 22.000000,4986.000000, 0.004393,0.995607, 736 chr21 19864804 19864805 rs767426544 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19864832 19864833 rs776356903 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864836 19864837 rs761429515 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864854 19864855 rs562701677 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864856 19864857 rs542431269 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 736 chr21 19864868 19864869 rs76946393 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 736 chr21 19864881 19864882 rs574708350 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19864900 19864901 rs542309559 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19864908 19864909 rs560580203 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864911 19864912 rs773486352 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864913 19864914 rs763383120 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19864917 19864918 rs79283514 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19864930 19864931 rs138669285 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19864987 19864988 rs756174668 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19864988 19864989 rs562347750 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19865000 19865001 rs767012799 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865004 19865005 rs564794084 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19865005 19865006 rs531943322 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19865009 19865010 rs190589923 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 34.000000,4974.000000, 0.006789,0.993211, 736 chr21 19865016 19865017 rs568284646 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865040 19865041 rs535666360 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19865061 19865062 rs2824852 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.222333 0.248464 unknown exact 1 18 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4370.000000,638.000000, 0.872604,0.127396, maf-5-some-pop,genotype-conflict 736 chr21 19865075 19865076 rs566446081 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865077 19865078 rs73895635 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.035681 0.128715 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 91.000000,4917.000000, 0.018171,0.981829, maf-5-some-pop 736 chr21 19865082 19865083 rs141804733 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19865088 19865089 rs544543377 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19865099 19865100 rs577045385 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19865104 19865105 rs9984206 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 unknown exact 1 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,PJP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4906.000000,102.000000, 0.979633,0.020367, maf-5-some-pop 736 chr21 19865109 19865110 rs530445313 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19865126 19865127 rs752822933 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865130 19865130 rs35889097 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19865138 19865139 rs556514130 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865179 19865180 rs180902918 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19865188 19865189 rs778034487 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865191 19865192 rs9977660 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WUGSC_SSAHASNP, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 736 chr21 19865195 19865196 rs554307495 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19865200 19865201 rs372938486 0 + G G A/C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19865253 19865254 rs546165629 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19865279 19865280 rs758152198 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865280 19865281 rs2824853 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.223522 0.248594 unknown exact 1 15 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 642.000000,4366.000000, 0.128195,0.871805, maf-5-some-pop 736 chr21 19865293 19865294 rs746890691 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865297 19865298 rs370936889 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19865328 19865329 rs139066873 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19865390 19865391 rs543672533 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865404 19865405 rs745447381 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19865492 19865493 rs562051492 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19865531 19865532 rs375384036 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19865539 19865540 rs529398532 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865547 19865548 rs186400154 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19865562 19865563 rs560512276 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19865578 19865579 rs532650794 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19865589 19865590 rs566551841 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19865705 19865706 rs7279781 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.040288 0.136092 unknown exact 1 6 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 103.000000,4905.000000, 0.020567,0.979433, maf-5-some-pop 736 chr21 19865765 19865766 rs747659115 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865781 19865782 rs769376897 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865782 19865783 rs552270583 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19865793 19865794 rs775039904 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19865831 19865832 rs570320159 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865864 19865865 rs566975630 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19865877 19865878 rs191155771 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865883 19865884 rs182989621 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19865902 19865902 rs535270774 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19865926 19865927 rs555174056 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 736 chr21 19865933 19865934 rs117066433 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4977.000000,31.000000, 0.993810,0.006190, 736 chr21 19865974 19865975 rs553722010 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19865983 19865984 rs7276328 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.040288 0.136092 unknown exact 1 10 1000GENOMES,AFFY,BCM_SSAHASNP,EVA_SVP,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4905.000000,103.000000, 0.979433,0.020567, maf-5-some-pop 736 chr21 19865989 19865990 rs771366910 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866016 19866017 rs545945960 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19866017 19866018 rs774845252 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866030 19866031 rs760190917 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866031 19866032 rs537798280 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19866056 19866057 rs768041505 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866107 19866108 rs376976030 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19866108 19866108 rs770330761 0 + - - -/AATT genomic insertion by-cluster 0 0 unknown between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866110 19866111 rs78501914 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19866129 19866130 rs1735790 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.434687 0.168495 unknown exact 1 28 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 3409.000000,1599.000000, 0.680711,0.319289, maf-5-some-pop,maf-5-all-pops 736 chr21 19866140 19866141 rs764255394 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866146 19866147 rs562041048 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19866173 19866174 rs565450573 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19866220 19866221 rs567994854 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19866249 19866250 rs796895588 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19866275 19866276 rs559663820 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19866289 19866290 rs533589413 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19866290 19866291 rs551946346 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19866302 19866305 rs781361263 0 + GAC GAC -/GAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866328 19866329 rs570531472 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19866389 19866390 rs753993913 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866395 19866396 rs531331207 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19866396 19866397 rs535316992 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 1 1000GENOMES, 2 -,A, 54.000000,4954.000000, 0.010783,0.989217, 736 chr21 19866408 19866408 rs772247054 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 736 chr21 19866409 19866409 rs10652775 0 + - - -/AA genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19866420 19866421 rs79822814 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19866422 19866422 rs5842696 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 ABI,GMI, 0 736 chr21 19866427 19866428 rs549845079 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19866440 19866441 rs186610723 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19866442 19866443 rs144052025 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19866460 19866460 rs35550909 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19866501 19866502 rs554053723 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19866519 19866520 rs565700448 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19866524 19866525 rs191971573 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19866552 19866553 rs557917364 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19866574 19866575 rs576174518 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19866578 19866579 rs537036677 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19866599 19866600 rs555374888 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19866623 19866624 rs766597598 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19866644 19866645 rs573973466 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19866650 19866651 rs779879726 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866706 19866707 rs541328056 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19866769 19866770 rs560005299 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19866803 19866804 rs751350974 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866812 19866813 rs572360067 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19866838 19866839 rs9978755 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 736 chr21 19866847 19866847 rs765752504 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 736 chr21 19866853 19866854 rs1735794 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.284209 0.247648 unknown exact 1 MixedObserved 11 1000GENOMES,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,GMI,HAMMER_LAB,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 859.000000,4149.000000, 0.171526,0.828474, maf-5-some-pop,maf-5-all-pops 736 chr21 19866853 19866854 rs759741091 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 EVA_DECODE, 0 736 chr21 19866858 19866859 rs1735795 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.041054 0.137264 unknown exact 1 5 1000GENOMES,CSHL-HAPMAP,ENSEMBL,SC_JCM,TSC-CSHL, 2 A,C, 105.000000,4903.000000, 0.020967,0.979034, maf-5-some-pop 736 chr21 19866859 19866859 rs577928374 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.045253 0.143452 unknown between 1 3 1000GENOMES,EVA_DECODE,HAMMER_LAB, 2 -,A, 4892.000000,116.000000, 0.976837,0.023163, maf-5-some-pop 736 chr21 19866863 19866864 rs113895165 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 unknown exact 1 MixedObserved 7 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4935.000000,73.000000, 0.985423,0.014577, 736 chr21 19866863 19866863 rs113737248 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.224709 0.248717 unknown between 1 MixedObserved 8 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,C, 4362.000000,646.000000, 0.871006,0.128994, maf-5-some-pop,maf-5-all-pops 736 chr21 19866864 19866864 rs66981131 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19866895 19866904 rs769848880 0 + GTTCTAAAC GTTCTAAAC -/GTTCTAAAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19866896 19866905 rs146313689 0 + TTCTAAACT TTCTAAACT -/TTCTAAACT genomic deletion by-cluster,by-frequency,by-1000genomes 0.282632 0.247861 unknown range 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,TTCTAAACT, 853.000000,4155.000000, 0.170327,0.829673, maf-5-some-pop,maf-5-all-pops 736 chr21 19866898 19866907 rs756230087 0 + CTAAACTTT CTAAACTTT -/CTAAACTTT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19866900 19866909 rs764158115 0 + AAACTTTCT AAACTTTCT -/AAACTTTCT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19866904 19866905 rs549783857 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19866906 19866915 rs370788214 0 + TCTAAACTT TCTAAACTT -/TCTAAACTT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19866927 19866928 rs2748799 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.085819 0.188533 unknown exact 1 13 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 225.000000,4783.000000, 0.044928,0.955072, maf-5-some-pop 736 chr21 19866937 19866938 rs753668132 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19866944 19866945 rs570115273 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19866956 19866957 rs188301341 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19866971 19866972 rs778641023 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19867031 19867032 rs148632904 0 + C C A/C genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,C, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19867038 19867039 rs192281400 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867050 19867051 rs777293269 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867087 19867088 rs539251782 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867097 19867098 rs562249895 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19867161 19867162 rs769134768 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19867201 19867202 rs111492910 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19867234 19867236 rs386816762 0 + AT AT AT/TA genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19867256 19867257 rs749009423 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867259 19867260 rs182352837 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867294 19867295 rs770706483 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867302 19867303 rs115120650 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 4 1000GENOMES,EVA_DECODE,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4954.000000,54.000000, 0.989217,0.010783, 736 chr21 19867313 19867314 rs537176067 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19867362 19867363 rs555456996 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867365 19867366 rs187680663 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19867366 19867367 rs535022353 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19867373 19867373 rs564229011 0 + - - -/AA genomic insertion by-frequency,by-1000genomes 0.004781 0.048658 unknown between 1 1 1000GENOMES, 2 -,AA, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19867396 19867397 rs539103052 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19867404 19867405 rs553389746 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867438 19867439 rs759961728 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867442 19867443 rs772478812 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867447 19867448 rs578226806 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867462 19867463 rs151298308 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19867464 19867465 rs531131645 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19867465 19867466 rs139415827 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867472 19867473 rs575934801 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867490 19867490 rs749663159 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 736 chr21 19867503 19867504 rs2251831 0 - C C A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.130694 0.219696 unknown exact 1 18 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 352.000000,4656.000000, 0.070288,0.929712, maf-5-some-pop,genotype-conflict 736 chr21 19867514 19867515 rs564785120 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19867517 19867518 rs561774196 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867528 19867529 rs760675872 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867553 19867554 rs117525341 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19867569 19867570 rs2251832 0 - T T A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.130694 0.219696 unknown exact 1 17 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 A,G, 4656.000000,352.000000, 0.929712,0.070288, maf-5-some-pop 736 chr21 19867573 19867574 rs559377672 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867582 19867583 rs753898939 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867675 19867676 rs36050018 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19867681 19867682 rs145612648 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867682 19867683 rs551265529 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867694 19867695 rs762088901 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867698 19867699 rs372745268 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 736 chr21 19867699 19867700 rs569485080 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867704 19867705 rs546999235 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19867713 19867713 rs779854766 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867725 19867726 rs536858430 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867729 19867730 rs765413617 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867783 19867784 rs751404183 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867785 19867786 rs192636637 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19867786 19867787 rs2251841 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.130694 0.219696 unknown exact 1 15 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 352.000000,4656.000000, 0.070288,0.929712, maf-5-some-pop 736 chr21 19867789 19867790 rs534700366 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867792 19867793 rs781019692 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867799 19867800 rs553368134 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867811 19867812 rs529426306 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19867815 19867816 rs147671382 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867835 19867836 rs142365020 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 unknown exact 1 5 1000GENOMES,EVA_DECODE,GMI,JMKIDD_LAB,SSMP, 2 A,T, 4946.000000,62.000000, 0.987620,0.012380, 736 chr21 19867846 19867847 rs146323100 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19867850 19867851 rs184760149 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19867862 19867863 rs548766377 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19867911 19867912 rs755995265 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19867956 19867957 rs555496467 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19867970 19867971 rs541089383 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19867975 19867976 rs777496095 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19868012 19868013 rs561399802 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19868018 19868018 rs749694630 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 736 chr21 19868045 19868046 rs540652877 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19868074 19868075 rs748780501 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19868095 19868096 rs372009989 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19868106 19868107 rs189869368 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19868131 19868132 rs532811970 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19868187 19868187 rs774632223 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 736 chr21 19868189 19868190 rs13052198 0 + C C C/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 SSAHASNP, 1 C, 418.000000, 1.000000, 736 chr21 19868246 19868247 rs537660563 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19868255 19868256 rs193155950 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19868296 19868297 rs772463236 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA_DECODE,WEILL_CORNELL_DGM, 0 736 chr21 19868331 19868332 rs369866001 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,GMI, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19868332 19868333 rs184575146 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19868359 19868360 rs376634221 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19868362 19868362 rs768588412 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19868419 19868420 rs567404606 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19868484 19868485 rs746251496 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19868503 19868504 rs189996213 0 + G G C/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19868509 19868510 rs546798134 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19868535 19868536 rs772416699 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19868567 19868568 rs368704691 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 736 chr21 19868600 19868601 rs571579989 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19868621 19868622 rs530170730 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19868670 19868671 rs775814648 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19868698 19868699 rs538669336 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19868701 19868702 rs180793407 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19868707 19868708 rs557599878 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19868710 19868711 rs569620192 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19868729 19868730 rs536832238 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19868790 19868791 rs9982277 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.018202 0.093646 unknown exact 1 5 1000GENOMES,AFFY,KRIBB_YJKIM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19868830 19868831 rs573634569 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19868850 19868853 rs549385233 0 + CTT CTT -/CTT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown range 1 2 1000GENOMES,HAMMER_LAB, 2 -,CTT, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19868853 19868856 rs368005820 0 + CTT CTT -/CTT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19868866 19868867 rs760858912 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19868883 19868884 rs7282465 0 + A A A/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 BCM_SSAHASNP, 1 A, 418.000000, 1.000000, 736 chr21 19868895 19868896 rs541092873 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19868900 19868901 rs148952132 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19868908 19868909 rs775877321 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19868911 19868912 rs185460434 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19868933 19868934 rs117701918 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,G, 30.000000,4978.000000, 0.005990,0.994010, 736 chr21 19869019 19869020 rs188353913 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19869039 19869040 rs563231438 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19869046 19869047 rs74456157 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 4 1000GENOMES,EVA_DECODE,HAMMER_LAB,WEILL_CORNELL_DGM, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, maf-5-some-pop 736 chr21 19869059 19869060 rs181838345 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19869082 19869083 rs747607874 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869090 19869091 rs561106913 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19869112 19869113 rs528287163 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19869128 19869129 rs374709760 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19869165 19869166 rs769037753 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869193 19869194 rs761717354 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19869212 19869213 rs2824854 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.087997 0.190408 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4777.000000,231.000000, 0.953874,0.046126, maf-5-some-pop 736 chr21 19869232 19869233 rs565240910 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19869276 19869277 rs532549908 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19869279 19869280 rs865780037 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19869280 19869280 rs150941138 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.361894 0.223562 unknown between 1 6 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_GENOME_DK,GMI,SSMP, 2 -,T, 3820.000000,1188.000000, 0.762780,0.237220, maf-5-some-pop,maf-5-all-pops 736 chr21 19869291 19869291 rs398121477 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 736 chr21 19869296 19869297 rs761859554 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869313 19869314 rs765462964 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869316 19869317 rs187409930 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19869320 19869321 rs534908657 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19869371 19869372 rs12483726 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap 0.009478 0.068186 unknown exact 1 3 ABI,CSHL-HAPMAP,ENSEMBL, 2 C,T, 2.000000,418.000000, 0.004762,0.995238, 736 chr21 19869391 19869392 rs773379167 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869404 19869405 rs62213294 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,BCMHGSC_JDW,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19869423 19869427 rs776502573 0 + ACTA ACTA -/ACTA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869425 19869426 rs536975079 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19869431 19869432 rs573646333 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19869442 19869443 rs371324830 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 2 1000GENOMES,LUNTER, 2 -,A, 23.000000,4985.000000, 0.004593,0.995407, 736 chr21 19869447 19869448 rs542698064 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19869452 19869454 rs769282795 0 + TG TG -/TG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869453 19869455 rs374801387 0 + GT GT -/GT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19869480 19869481 rs549979908 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19869500 19869501 rs548921412 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19869501 19869502 rs767282765 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869552 19869553 rs1735744 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.411746 0.190626 unknown exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 1452.000000,3556.000000, 0.289936,0.710064, maf-5-some-pop,maf-5-all-pops 736 chr21 19869568 19869569 rs534132967 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19869586 19869587 rs1740177 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.408017 0.193729 unknown exact 1 22 1000GENOMES,BCMHGSC_JDW,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 C,T, 3578.000000,1430.000000, 0.714457,0.285543, maf-5-some-pop,maf-5-all-pops 736 chr21 19869596 19869597 rs143135544 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19869605 19869606 rs148233497 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19869680 19869681 rs556564969 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19869682 19869683 rs544840448 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19869699 19869701 rs142716380 0 + GA GA -/GA genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 MixedObserved 6 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 0 736 chr21 19869699 19869699 rs574125764 0 + - - -/GAGA genomic insertion by-frequency,by-1000genomes 0.002393 0.03451 unknown between 1 MixedObserved 1 1000GENOMES, 2 -,GAGA, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19869701 19869701 rs754685705 0 + - - -/GA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869716 19869717 rs62213295 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 736 chr21 19869717 19869718 rs529630409 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19869718 19869719 rs113517492 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 2 BUSHMAN,GMI, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19869723 19869724 rs567958083 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19869731 19869732 rs574913299 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19869738 19869739 rs764104891 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869801 19869802 rs542477326 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19869833 19869834 rs796734379 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19869842 19869843 rs527533570 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19869856 19869857 rs753424770 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869859 19869860 rs77809866 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.052082 0.152737 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 134.000000,4874.000000, 0.026757,0.973243, maf-5-some-pop 736 chr21 19869861 19869862 rs778713490 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869875 19869876 rs191423671 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19869900 19869901 rs1735746 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.425123 0.178415 unknown exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP,YUSUKE, 2 A,G, 3473.000000,1535.000000, 0.693490,0.306510, maf-5-some-pop,maf-5-all-pops 736 chr21 19869942 19869943 rs757975640 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19869967 19869968 rs565372740 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19870003 19870004 rs578221211 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19870007 19870008 rs141872455 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19870031 19870032 rs183820885 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19870039 19870040 rs780631173 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19870049 19870050 rs186338678 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19870078 19870079 rs530133031 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19870081 19870082 rs369262238 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19870089 19870090 rs567098175 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19870090 19870091 rs747304110 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870134 19870135 rs534394129 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19870137 19870138 rs80336888 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19870143 19870144 rs777074033 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870158 19870159 rs555914724 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19870174 19870175 rs748254216 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870232 19870233 rs571297057 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19870267 19870268 rs538316597 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19870297 19870298 rs2252190 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.364401 0.222289 unknown exact 1 20 1000GENOMES,AFFY,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1200.000000,3808.000000, 0.239617,0.760383, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19870340 19870341 rs190212758 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19870359 19870360 rs773316966 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870360 19870361 rs574849972 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19870383 19870384 rs535851309 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19870429 19870430 rs763304285 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870445 19870446 rs182147878 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19870462 19870463 rs573098042 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19870475 19870476 rs540407717 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19870477 19870478 rs186531346 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19870487 19870488 rs577133818 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19870522 19870523 rs766482972 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870544 19870545 rs775408592 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870545 19870546 rs138116850 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19870552 19870553 rs760342495 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870562 19870563 rs549028192 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19870600 19870601 rs764158265 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870605 19870606 rs191363967 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19870613 19870614 rs530114286 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19870616 19870617 rs78647788 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19870665 19870666 rs560822514 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19870666 19870667 rs114907509 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19870667 19870667 rs550987509 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 736 chr21 19870707 19870708 rs183642449 0 + G G C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19870726 19870727 rs764900077 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870734 19870735 rs749894227 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870743 19870744 rs142382873 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19870754 19870755 rs189086380 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19870755 19870756 rs62213296 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.363568 0.222716 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3812.000000,1196.000000, 0.761182,0.238818, maf-5-some-pop,maf-5-all-pops 736 chr21 19870766 19870767 rs116131738 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 736 chr21 19870791 19870792 rs150508933 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19870801 19870802 rs779549544 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870819 19870820 rs747422389 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870830 19870831 rs563521418 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19870865 19870866 rs554304384 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19870897 19870898 rs566739662 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19870911 19870912 rs533818844 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19870925 19870926 rs755291322 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19870977 19870978 rs558830217 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19870992 19870993 rs377383797 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19871048 19871049 rs577073148 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19871061 19871062 rs62213297 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19871064 19871065 rs2824855 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.367503 0.220665 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 1215.000000,3793.000000, 0.242612,0.757388, maf-5-some-pop,maf-5-all-pops 736 chr21 19871069 19871070 rs577283819 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19871086 19871087 rs770269780 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871120 19871121 rs571437757 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19871128 19871129 rs374554246 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 736 chr21 19871147 19871148 rs542184655 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19871174 19871175 rs560258676 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19871216 19871217 rs527698595 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19871218 19871219 rs2824856 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.365853 0.221536 unknown exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1207.000000,3801.000000, 0.241014,0.758986, maf-5-some-pop,maf-5-all-pops 736 chr21 19871262 19871263 rs2824857 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.36606 0.221428 unknown exact 1 21 1000GENOMES,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1208.000000,3800.000000, 0.241214,0.758786, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19871294 19871295 rs117207983 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19871297 19871298 rs774400319 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871325 19871326 rs550004588 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19871376 19871377 rs192878841 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19871426 19871427 rs768514763 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871443 19871444 rs374211010 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19871444 19871445 rs776556032 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871450 19871451 rs139538572 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19871470 19871471 rs185464061 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19871479 19871480 rs189518578 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19871490 19871491 rs533792240 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19871507 19871508 rs76076558 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19871508 19871509 rs191672560 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19871570 19871571 rs56175519 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.364401 0.222289 unknown exact 1 MixedObserved 11 1000GENOMES,DDI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 3808.000000,1200.000000, 0.760383,0.239617, maf-5-some-pop,maf-5-all-pops 736 chr21 19871570 19871572 rs202245019 0 + AC AC -/AC genomic deletion by-1000genomes 0 0 unknown range 1 MixedObserved 1 1000GENOMES, 0 736 chr21 19871570 19871572 rs386816763 0 + AC AC AC/CT genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19871571 19871572 rs55738547 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.364609 0.222182 unknown exact 1 11 1000GENOMES,DDI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 3807.000000,1201.000000, 0.760184,0.239816, maf-5-some-pop,maf-5-all-pops 736 chr21 19871630 19871631 rs2824858 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.193653 0.243567 unknown exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,C, 544.000000,4464.000000, 0.108626,0.891374, maf-5-some-pop 736 chr21 19871683 19871684 rs574595512 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19871684 19871685 rs180915021 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19871693 19871694 rs2824859 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.363568 0.222716 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3812.000000,1196.000000, 0.761182,0.238818, maf-5-some-pop,maf-5-all-pops 736 chr21 19871698 19871699 rs576231346 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871741 19871742 rs187153617 0 + C C C/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,TISHKOFF, 0 736 chr21 19871766 19871767 rs200372369 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.019769 0.097435 unknown exact 1 1 1000GENOMES, 2 -,A, 50.000000,4958.000000, 0.009984,0.990016, 736 chr21 19871788 19871789 rs755346427 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871794 19871795 rs781592331 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871814 19871815 rs538424144 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19871831 19871832 rs375555965 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSMP, 0 736 chr21 19871850 19871851 rs753031942 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19871856 19871857 rs190825854 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19871859 19871860 rs78933439 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 7 1000GENOMES,EVA_DECODE,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 54.000000,4954.000000, 0.010783,0.989217, 736 chr21 19871860 19871861 rs181644514 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19871924 19871925 rs543589563 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19871932 19871933 rs8130565 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.363568 0.222716 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3812.000000,1196.000000, 0.761182,0.238818, maf-5-some-pop,maf-5-all-pops 736 chr21 19871935 19871936 rs187112501 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 736 chr21 19871937 19871937 rs34371312 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19871961 19871962 rs547938280 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19871968 19871969 rs560196605 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19871976 19871977 rs111795274 0 + C C C/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 1.000000, 1.000000, 736 chr21 19871977 19871978 rs2824860 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.439085 0.163545 unknown exact 1 18 1000GENOMES,BGI,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1630.000000,3378.000000, 0.325479,0.674521, maf-5-some-pop 736 chr21 19871996 19871997 rs552236021 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872002 19872003 rs570736976 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19872015 19872016 rs752185006 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19872040 19872041 rs538108470 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19872066 19872067 rs550113984 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19872085 19872086 rs569597398 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872154 19872155 rs535639482 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19872173 19872174 rs190555166 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19872174 19872175 rs8133135 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.365439 0.221752 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1205.000000,3803.000000, 0.240615,0.759385, maf-5-some-pop,maf-5-all-pops 736 chr21 19872178 19872179 rs181091585 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19872246 19872247 rs76946835 0 + G G C/G genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19872258 19872259 rs746151603 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872265 19872266 rs539435915 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872267 19872268 rs772420631 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872310 19872311 rs573946049 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19872315 19872315 rs766976284 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872317 19872318 rs557759661 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872322 19872323 rs2824861 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.36315 0.222928 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,G, 1194.000000,3814.000000, 0.238419,0.761581, maf-5-some-pop,maf-5-all-pops 736 chr21 19872329 19872330 rs543674920 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872331 19872332 rs562055369 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872333 19872336 rs746317468 0 + AAC AAC -/AAC genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19872342 19872343 rs772567375 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19872365 19872366 rs370802633 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19872380 19872381 rs574104708 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872389 19872390 rs541658321 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872433 19872434 rs868197792 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19872443 19872444 rs373433385 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19872449 19872450 rs532436631 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872483 19872484 rs761677184 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872510 19872511 rs552321590 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872512 19872513 rs564035670 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872549 19872550 rs772983025 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872557 19872557 rs34197671 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19872573 19872574 rs2091988 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 TSC-CSHL, 0 736 chr21 19872579 19872580 rs531339505 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872581 19872582 rs55734528 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 unknown exact 1 8 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 736 chr21 19872599 19872600 rs568387645 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872614 19872615 rs535280964 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872615 19872616 rs2091989 0 + C C A/C genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 C, 418.000000, 1.000000, 736 chr21 19872686 19872687 rs765748759 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872697 19872698 rs149260605 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19872703 19872704 rs867980354 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19872725 19872726 rs185475179 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872736 19872737 rs539520135 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19872750 19872751 rs189550867 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872760 19872761 rs751054583 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872765 19872766 rs144788208 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19872775 19872778 rs201394064 0 + CAC CAC -/CAC genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 736 chr21 19872776 19872776 rs199688545 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 736 chr21 19872777 19872778 rs3216583 0 - C C G/T genomic single by-cluster,by-frequency,by-1000genomes 0.365646 0.221644 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,GMI,SSIP,WEILL_CORNELL_DGM, 2 G,T, 3802.000000,1206.000000, 0.759185,0.240815, maf-5-some-pop,maf-5-all-pops 736 chr21 19872777 19872777 rs150814218 0 + - - -/ATTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.365646 0.221644 unknown between 1 5 1000GENOMES,DDI,EVA_GENOME_DK,LUNTER,SSMP, 2 -,ATTT, 3802.000000,1206.000000, 0.759185,0.240815, maf-5-some-pop,maf-5-all-pops 736 chr21 19872778 19872778 rs35871979 0 + - - -/TTTA genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 3 1000GENOMES,LUNTER,YUSUKE, 0 736 chr21 19872788 19872789 rs910645 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.364817 0.222075 unknown exact 1 11 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 3806.000000,1202.000000, 0.759984,0.240016, maf-5-some-pop,maf-5-all-pops 736 chr21 19872799 19872800 rs140048710 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872813 19872814 rs767136697 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872816 19872817 rs2824862 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.335788 0.23482 unknown exact 1 14 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3939.000000,1069.000000, 0.786542,0.213458, maf-5-some-pop,maf-5-all-pops 736 chr21 19872852 19872853 rs183000216 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19872870 19872871 rs62213298 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.362523 0.223246 unknown exact 1 15 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3817.000000,1191.000000, 0.762181,0.237819, maf-5-some-pop,maf-5-all-pops 736 chr21 19872877 19872878 rs545872753 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19872943 19872944 rs565135619 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19872950 19872951 rs754246041 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872952 19872953 rs757773488 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19872967 19872968 rs554438290 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19872970 19872971 rs73198384 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.36315 0.222928 unknown exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3814.000000,1194.000000, 0.761581,0.238419, maf-5-some-pop,maf-5-all-pops 736 chr21 19872984 19872985 rs2824863 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.36315 0.222928 unknown exact 1 14 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1194.000000,3814.000000, 0.238419,0.761581, maf-5-some-pop,maf-5-all-pops 736 chr21 19873036 19873037 rs543480775 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873067 19873067 rs577492161 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.00319 0.039809 unknown between 1 1 1000GENOMES, 2 -,A, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19873090 19873091 rs561816059 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19873092 19873093 rs758740809 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19873112 19873113 rs747357936 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19873127 19873128 rs145538329 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19873173 19873174 rs188753085 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873176 19873177 rs565835418 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19873204 19873205 rs192453837 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19873215 19873215 rs759087220 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 736 chr21 19873237 19873238 rs183957984 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873253 19873254 rs551416100 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873255 19873256 rs536231882 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19873285 19873286 rs569862831 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19873288 19873289 rs769403766 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19873365 19873366 rs60291821 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 3 1000GENOMES,HGSV,WEILL_CORNELL_DGM, 2 C,T, 4977.000000,31.000000, 0.993810,0.006190, 736 chr21 19873366 19873367 rs549834821 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19873390 19873391 rs569755930 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19873395 19873396 rs147752259 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 736 chr21 19873417 19873418 rs773214598 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19873446 19873447 rs567574044 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873515 19873516 rs535289697 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873583 19873584 rs528903173 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19873585 19873586 rs372470065 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19873592 19873593 rs553398330 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873594 19873595 rs578180932 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19873614 19873615 rs60048463 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 unknown exact 1 13 1000GENOMES,BCMHGSC_JDW,BUSHMAN,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4961.000000,47.000000, 0.990615,0.009385, 736 chr21 19873659 19873660 rs557873692 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19873691 19873692 rs57408360 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19873712 19873713 rs576237139 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19873746 19873747 rs9984433 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4965.000000,43.000000, 0.991414,0.008586, 736 chr21 19873747 19873748 rs75125703 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034526 0.126772 unknown exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4920.000000,88.000000, 0.982428,0.017572, maf-5-some-pop 736 chr21 19873755 19873756 rs578095083 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19873760 19873761 rs534148597 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19873776 19873777 rs541281454 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873784 19873785 rs559226656 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873869 19873870 rs758999947 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19873891 19873892 rs532959145 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19873904 19873905 rs554419725 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19873916 19873917 rs551203276 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19873929 19873930 rs569799787 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19873982 19873983 rs767189799 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874005 19874006 rs776873381 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19874015 19874016 rs775058072 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874026 19874027 rs530883725 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19874029 19874030 rs9975927 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.017025 0.090679 unknown exact 1 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 43.000000,4965.000000, 0.008586,0.991414, 736 chr21 19874065 19874066 rs140498233 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19874104 19874105 rs576366622 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19874116 19874117 rs761118382 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874158 19874159 rs764427165 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874214 19874215 rs754229286 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874227 19874228 rs112159688 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19874246 19874247 rs757746726 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874285 19874286 rs765750394 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874290 19874291 rs574024297 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19874303 19874304 rs565837010 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19874311 19874312 rs778400339 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19874319 19874320 rs561867098 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19874388 19874389 rs75392396 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 6 1000GENOMES,EVA_DECODE,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 61.000000,4947.000000, 0.012180,0.987819, maf-5-some-pop 736 chr21 19874406 19874407 rs369627966 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19874426 19874427 rs187425993 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19874430 19874431 rs539217332 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19874453 19874454 rs78995668 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 61.000000,4947.000000, 0.012180,0.987819, 736 chr21 19874459 19874460 rs575934723 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19874461 19874462 rs537117000 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19874468 19874469 rs192174134 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19874561 19874562 rs573534694 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19874581 19874582 rs540717514 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19874584 19874585 rs542596831 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19874604 19874605 rs534580737 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19874622 19874623 rs762947252 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19874644 19874645 rs559214483 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19874650 19874651 rs866737613 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19874655 19874656 rs577550774 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19874660 19874661 rs150420997 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19874671 19874672 rs377048209 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19874672 19874673 rs184009257 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19874702 19874705 rs559199855 0 + AAG AAG -/AAG genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown range 1 1 1000GENOMES, 2 -,AAG, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19874739 19874740 rs796068270 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19874752 19874753 rs73198385 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.194902 0.243853 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4460.000000,548.000000, 0.890575,0.109425, maf-5-some-pop,maf-5-all-pops 736 chr21 19874753 19874754 rs111225935 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 6 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4954.000000,54.000000, 0.989217,0.010783, 736 chr21 19874788 19874789 rs774177886 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19874821 19874822 rs374948932 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19874868 19874869 rs187324671 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19874869 19874870 rs545438561 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 736 chr21 19874876 19874877 rs528474584 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19874882 19874883 rs546710241 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19874910 19874911 rs571946741 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19874928 19874929 rs28636735 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.211516 0.24702 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4406.000000,602.000000, 0.879792,0.120208, maf-5-some-pop,maf-5-all-pops 736 chr21 19874945 19874946 rs370749442 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19874957 19874958 rs569437168 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19874981 19874982 rs777495154 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875031 19875032 rs191415796 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19875032 19875033 rs555438401 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875033 19875034 rs779095933 0 + G G C/G genomic single unknown 0 0 unknown exact 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875045 19875046 rs184595379 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19875099 19875100 rs573695502 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19875120 19875121 rs770797654 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875131 19875132 rs534596926 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19875170 19875171 rs552578918 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875173 19875174 rs577234154 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19875175 19875176 rs544861842 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875177 19875178 rs563244953 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19875182 19875183 rs112899770 0 + A A A/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 BUSHMAN, 1 T, 1.000000, 1.000000, 736 chr21 19875193 19875194 rs527453942 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19875208 19875209 rs774233119 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875213 19875217 rs370222042 0 + AGAC AGAC -/AGAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown range 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,AGAC, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 736 chr21 19875216 19875220 rs371787866 0 + CAGA CAGA -/CAGA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19875249 19875250 rs11639092 0 - C C A/G genomic single unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19875257 19875258 rs373531729 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4950.000000,58.000000, 0.988419,0.011582, 736 chr21 19875262 19875263 rs374715320 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4950.000000,58.000000, 0.988419,0.011582, 736 chr21 19875288 19875289 rs2998569 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 SingleAlleleFreq 3 ABI,HUMANGENOME_JCVI,SC_JCM, 1 T, 2.000000, 1.000000, 736 chr21 19875291 19875291 rs143034488 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.391024 0.206427 unknown between 1 10 1000GENOMES,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,C, 3673.000000,1335.000000, 0.733427,0.266573, maf-5-some-pop,maf-5-all-pops 736 chr21 19875306 19875307 rs561416008 0 + C C C/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,G, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19875332 19875333 rs28829664 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.204803 0.245881 unknown exact 1 6 1000GENOMES,BUSHMAN,EVA-GONL,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4428.000000,580.000000, 0.884185,0.115815, maf-5-some-pop,maf-5-all-pops 736 chr21 19875333 19875334 rs547136212 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875355 19875356 rs561219135 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875364 19875365 rs190322420 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875379 19875380 rs28844889 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.220843 0.248294 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4375.000000,633.000000, 0.873602,0.126398, maf-5-some-pop,maf-5-all-pops 736 chr21 19875380 19875381 rs116880963 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.036066 0.129354 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 92.000000,4916.000000, 0.018371,0.981629, 736 chr21 19875391 19875392 rs28770178 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.375797 0.216044 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3752.000000,1256.000000, 0.749201,0.250799, maf-5-some-pop,maf-5-all-pops 736 chr21 19875403 19875404 rs753393689 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19875405 19875406 rs867091757 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19875406 19875407 rs182252647 0 + G G A/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19875426 19875427 rs548535483 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19875427 19875428 rs9637049 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.210605 0.246877 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 599.000000,4409.000000, 0.119609,0.880391, maf-5-some-pop 736 chr21 19875455 19875456 rs776911303 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875464 19875465 rs9637050 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.209997 0.246779 unknown exact 1 13 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 597.000000,4411.000000, 0.119209,0.880791, maf-5-some-pop,maf-5-all-pops 736 chr21 19875478 19875479 rs552659040 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19875498 19875499 rs138169966 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19875504 19875505 rs765873859 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875526 19875527 rs9637051 0 + A A A/C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.377092 0.217611 unknown exact 1 SingleClassTriAllelic 16 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,T, 3750.000000,1249.000000,9.000000, 0.748802,0.249401,0.001797, maf-5-some-pop,maf-5-all-pops 736 chr21 19875527 19875528 rs575481403 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19875579 19875580 rs542783322 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875599 19875600 rs185635920 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875601 19875609 rs755321648 0 + GCTACAAG GCTACAAG -/GCTACAAG genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19875660 19875661 rs573011844 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,C, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19875665 19875666 rs867508717 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19875669 19875670 rs758561979 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875671 19875672 rs9637052 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.19459 0.243782 unknown exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4461.000000,547.000000, 0.890775,0.109225, maf-5-some-pop,maf-5-all-pops 736 chr21 19875678 19875679 rs565385491 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19875740 19875741 rs188750828 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19875791 19875792 rs544658970 0 + A A A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19875807 19875808 rs148181609 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19875821 19875822 rs751654323 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875837 19875838 rs530356609 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19875839 19875840 rs201062241 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19875864 19875865 rs369425455 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19875869 19875870 rs372425164 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19875876 19875877 rs570957956 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19875882 19875883 rs548887289 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875884 19875885 rs755193785 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875909 19875910 rs554105973 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875914 19875915 rs753608047 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875920 19875921 rs181571535 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19875944 19875945 rs144465095 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 5 BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875945 19875946 rs527882167 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875948 19875949 rs185426904 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875976 19875977 rs190279220 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875981 19875982 rs538228777 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19875985 19875986 rs745867533 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19875987 19875988 rs180775184 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19876016 19876017 rs556592405 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19876035 19876051 rs749344409 0 + TTCTGCACAGCAAAAG TTCTGCACAGCAAAAG -/TTCTGCACAGCAAAAG genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19876038 19876039 rs771996729 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876050 19876051 rs570003517 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19876055 19876056 rs568854901 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19876080 19876081 rs28813705 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 10 1000GENOMES,ABI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,GMI,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19876120 19876121 rs150754052 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4943.000000,65.000000, 0.987021,0.012979, maf-5-some-pop 736 chr21 19876133 19876134 rs79018575 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 9 1000GENOMES,DDI,ENSEMBL,EVA-GONL,GMI,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19876141 19876142 rs77784430 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 8 1000GENOMES,DDI,ENSEMBL,EVA-GONL,GMI,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19876166 19876167 rs559085049 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19876190 19876191 rs75993862 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.376592 0.215579 unknown exact 1 MixedObserved 7 1000GENOMES,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSAHASNP,WEILL_CORNELL_DGM, 2 G,T, 1260.000000,3748.000000, 0.251597,0.748403, maf-5-some-pop,maf-5-all-pops 736 chr21 19876190 19876193 rs386816764 0 + TGG TGG GGA/TGG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19876192 19876193 rs190878917 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19876198 19876199 rs562713490 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876226 19876227 rs530115715 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19876240 19876241 rs542110091 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876241 19876242 rs560887830 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876243 19876244 rs776304013 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876251 19876251 rs796715618 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 HAMMER_LAB, 0 736 chr21 19876260 19876261 rs376299970 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19876262 19876263 rs137988926 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876270 19876271 rs552386214 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19876274 19876275 rs144043132 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19876275 19876276 rs555374737 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19876281 19876282 rs759347609 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19876287 19876288 rs532048959 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876314 19876315 rs550664252 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876332 19876333 rs767284828 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19876357 19876358 rs865932098 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19876361 19876362 rs762085361 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876381 19876381 rs147460674 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown between 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSIP,SSMP, 2 -,A, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19876396 19876397 rs147296408 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19876418 19876419 rs61989466 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 7 1000GENOMES,BUSHMAN,DDI,EVA-GONL,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19876443 19876443 rs756377710 0 + - - -/GTGTG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876469 19876470 rs548187117 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876487 19876488 rs28763337 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.19459 0.243782 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4461.000000,547.000000, 0.890775,0.109225, maf-5-some-pop,maf-5-all-pops 736 chr21 19876488 19876489 rs28880874 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19876585 19876586 rs28805961 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.376394 0.215696 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1259.000000,3749.000000, 0.251398,0.748602, maf-5-some-pop,maf-5-all-pops 736 chr21 19876605 19876606 rs142782652 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 1 1000GENOMES, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 736 chr21 19876626 19876627 rs183872821 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19876631 19876632 rs151071105 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 A,G, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 736 chr21 19876666 19876667 rs574736633 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876677 19876678 rs542249106 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876684 19876685 rs28714084 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.375996 0.215928 unknown exact 1 13 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3751.000000,1257.000000, 0.749002,0.250998, maf-5-some-pop,maf-5-all-pops 736 chr21 19876737 19876738 rs141298192 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19876748 19876749 rs546108475 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19876761 19876762 rs751638398 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876793 19876794 rs187939269 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19876807 19876808 rs759622559 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876822 19876823 rs767639183 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876835 19876836 rs531795972 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876898 19876899 rs752907080 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876909 19876910 rs148962224 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,BL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19876927 19876928 rs183197153 0 + A A A/C genomic single by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 1 1000GENOMES, 2 A,C, 4986.000000,22.000000, 0.995607,0.004393, 736 chr21 19876934 19876935 rs867271162 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19876946 19876947 rs529650480 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19876947 19876948 rs548206159 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19876965 19876966 rs566752459 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19876976 19876977 rs750192265 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19876981 19876982 rs186070079 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,MPI_MOLGEN, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19876984 19876985 rs552516769 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,T, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19876986 19876987 rs187085114 0 + T T C/T genomic single by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 1 1000GENOMES, 2 C,T, 53.000000,4955.000000, 0.010583,0.989417, 736 chr21 19876995 19876996 rs551915807 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19877015 19877016 rs1735747 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SC_JCM, 0 736 chr21 19877019 19877021 rs771744481 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 1 EVA_GENOME_DK, 0 736 chr21 19877020 19877040 rs372323669 0 + TTTATATATATATATATATA TTTATATATATATATATATA -/TTTATATATATATATATATA genomic deletion unknown 0 0 unknown range 1 1 LUNTER, 0 736 chr21 19877021 19877022 rs28441097 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 GMI,SSAHASNP, 0 736 chr21 19877034 19877035 rs538089702 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19877054 19877055 rs192979384 0 + T T A/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 0 736 chr21 19877057 19877067 rs71191409 0 + ATATATATAT ATATATATAT -/ATATATATAT genomic deletion unknown 0 0 unknown range 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 736 chr21 19877111 19877112 rs28410798 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.309861 0.242728 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,GMI,ILLUMINA,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 97.000000,23.000000, 0.808333,0.191667, maf-5-some-pop,maf-5-all-pops 736 chr21 19877118 19877119 rs28758986 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19877119 19877120 rs144119685 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 A,G, 44.000000,4964.000000, 0.008786,0.991214, 736 chr21 19877125 19877126 rs28398884 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,GMI,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19877155 19877156 rs553720374 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19877181 19877182 rs184835490 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19877202 19877203 rs115919271 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 736 chr21 19877215 19877216 rs564444168 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19877285 19877286 rs576227750 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19877310 19877311 rs187753888 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 736 chr21 19877388 19877389 rs76278999 0 + C C C/G genomic single by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 1 1000GENOMES, 2 C,G, 4949.000000,59.000000, 0.988219,0.011781, 736 chr21 19877440 19877441 rs752057908 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19877441 19877442 rs146474760 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19877442 19877443 rs548002531 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19877443 19877444 rs560158427 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19877515 19877516 rs2824864 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 20 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19877523 19877524 rs552496022 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19877533 19877534 rs2824865 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19877542 19877543 rs570042691 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19877543 19877544 rs141118928 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19877559 19877560 rs568181317 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19877571 19877572 rs768142120 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19877580 19877581 rs535906565 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19877615 19877616 rs553855644 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19877616 19877617 rs539007786 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19877642 19877643 rs138635763 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19877646 19877647 rs547889960 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19877651 19877652 rs576709622 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19877663 19877664 rs543635095 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19877670 19877670 rs199602829 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown between 1 2 1000GENOMES,LUNTER, 2 -,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19877674 19877675 rs372299841 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19877676 19877677 rs7282971 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.388775 0.207946 unknown exact 1 12 1000GENOMES,BCM_SSAHASNP,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 3685.000000,1323.000000, 0.735823,0.264177, maf-5-some-pop,maf-5-all-pops 736 chr21 19877748 19877749 rs574169156 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19877769 19877770 rs192328717 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19877801 19877802 rs369907498 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19877814 19877815 rs148831131 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 4 1000GENOMES,EVA_DECODE,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 52.000000,4956.000000, 0.010383,0.989617, 736 chr21 19877823 19877824 rs534758553 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19877874 19877875 rs9984975 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19877916 19877917 rs763386918 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19877922 19877923 rs9974790 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19878063 19878064 rs7278444 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 5 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 736 chr21 19878072 19878073 rs774856557 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878090 19878091 rs549819771 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19878101 19878102 rs115122654 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 unknown exact 1 4 1000GENOMES,EVA_DECODE,HAMMER_LAB,WEILL_CORNELL_DGM, 2 A,G, 4957.000000,51.000000, 0.989816,0.010184, maf-5-some-pop 736 chr21 19878128 19878130 rs144540020 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.376394 0.215696 unknown range 1 9 1000GENOMES,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,TT, 1259.000000,3749.000000, 0.251398,0.748602, maf-5-some-pop,maf-5-all-pops 736 chr21 19878129 19878130 rs748082958 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878137 19878138 rs529079611 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,EVA_GENOME_DK, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19878140 19878141 rs759549273 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878162 19878163 rs547484840 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878193 19878194 rs565878745 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878237 19878238 rs767693867 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878247 19878248 rs539434227 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878249 19878250 rs773219500 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19878251 19878252 rs752718558 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878267 19878268 rs760931492 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878270 19878271 rs557761410 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19878311 19878312 rs138053116 0 + C C C/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19878316 19878317 rs537716830 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878318 19878319 rs184543729 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878325 19878326 rs574132831 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878358 19878359 rs143476853 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19878362 19878363 rs553888608 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19878365 19878366 rs572198512 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878368 19878369 rs545936100 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19878373 19878374 rs189476018 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19878455 19878456 rs62213300 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19878463 19878464 rs758146354 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878489 19878490 rs147299233 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19878544 19878545 rs561878419 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878569 19878570 rs867056245 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19878591 19878592 rs529078475 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878604 19878605 rs181540559 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19878664 19878664 rs757273069 0 + - - -/GA genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878675 19878676 rs751451730 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878692 19878693 rs139214087 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19878712 19878713 rs559402290 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878729 19878730 rs577100238 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19878797 19878798 rs754855179 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878803 19878804 rs184424949 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19878815 19878816 rs114425547 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 G,T, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 736 chr21 19878839 19878840 rs780821632 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19878851 19878852 rs545775486 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19878870 19878871 rs569993870 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19878876 19878877 rs189008017 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19878900 19878902 rs369855866 0 + TT TT -/TT genomic deletion by-cluster,by-frequency,by-1000genomes 0.375797 0.216044 unknown range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP, 2 -,TT, 1256.000000,3752.000000, 0.250799,0.749201, maf-5-some-pop,maf-5-all-pops 736 chr21 19878908 19878912 rs869279765 0 + TTTC TTTC -/TTTC genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 736 chr21 19878909 19878911 rs57057873 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 MixedObserved 2 BCMHGSC_JDW,HGSV, 0 736 chr21 19878909 19878912 rs386816765 0 + TTC TTC A/TTC genomic in-del unknown 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 TISHKOFF, 0 736 chr21 19878911 19878912 rs55761619 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.227959 0.249026 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,HGSV,WEILL_CORNELL_DGM, 2 A,C, 657.000000,4351.000000, 0.131190,0.868810, maf-5-some-pop,maf-5-all-pops 736 chr21 19878912 19878913 rs76544034 0 + T T A/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19878915 19878916 rs112012909 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19878920 19878921 rs28763629 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.375797 0.216044 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3752.000000,1256.000000, 0.749201,0.250799, maf-5-some-pop,maf-5-all-pops 736 chr21 19878926 19878927 rs777516887 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879008 19879009 rs768386996 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19879049 19879050 rs141583103 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,G, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19879058 19879059 rs150914672 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19879119 19879120 rs749675973 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879145 19879146 rs547842371 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19879147 19879148 rs578225448 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19879157 19879158 rs181190874 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879208 19879209 rs200113706 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.429237 0.174281 unknown exact 1 7 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,SSMP, 2 -,T, 1562.000000,3446.000000, 0.311901,0.688099, maf-5-some-pop,maf-5-all-pops 736 chr21 19879238 19879239 rs557568083 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879252 19879253 rs149588915 0 + G G -/G genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,LUNTER, 0 736 chr21 19879253 19879255 rs200754698 0 + TT TT -/TT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 4 DDI,GMI,HAMMER_LAB,SSMP, 0 736 chr21 19879253 19879254 rs551258844 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.33875 0.233717 unknown exact 1 MixedObserved 1 1000GENOMES, 2 -,T, 1082.000000,3926.000000, 0.216054,0.783946, maf-5-some-pop,maf-5-all-pops 736 chr21 19879288 19879289 rs568129332 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19879303 19879304 rs186367045 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19879313 19879314 rs562003245 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19879354 19879355 rs9974098 0 + G G A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_DECODE,WUGSC_SSAHASNP, 0 736 chr21 19879370 19879371 rs573628324 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879371 19879372 rs540952545 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19879372 19879373 rs559088402 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19879379 19879380 rs532971190 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879380 19879381 rs551415987 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19879384 19879385 rs28587152 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19879385 19879386 rs530918018 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19879387 19879388 rs549136782 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19879391 19879392 rs567673206 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879400 19879401 rs139399952 0 + G G C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19879403 19879404 rs535300672 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879411 19879412 rs547323497 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879412 19879413 rs571820621 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19879420 19879421 rs539284267 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879427 19879428 rs557823403 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879430 19879431 rs576093488 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879436 19879437 rs537029351 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879440 19879441 rs555036659 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19879443 19879444 rs573317427 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19879445 19879446 rs540889376 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879448 19879449 rs559228509 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879457 19879457 rs764777215 0 + - - -/TGAGATAT genomic insertion by-cluster 0 0 unknown between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879460 19879461 rs9974194 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WUGSC_SSAHASNP, 0 736 chr21 19879482 19879483 rs28372279 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19879502 19879503 rs369167380 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19879513 19879514 rs746455048 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879518 19879519 rs544907462 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879581 19879582 rs563779508 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19879585 19879586 rs372944922 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19879599 19879600 rs376027332 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19879603 19879604 rs376729300 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19879608 19879609 rs543120378 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19879624 19879625 rs189304120 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19879627 19879628 rs115039388 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 736 chr21 19879670 19879671 rs772430374 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879689 19879690 rs775692820 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879703 19879704 rs2824866 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.147991 0.228242 unknown exact 1 13 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,G, 403.000000,4605.000000, 0.080471,0.919529, maf-5-some-pop 736 chr21 19879717 19879718 rs767891210 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19879758 19879759 rs547309149 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19879765 19879766 rs542992752 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19879817 19879818 rs570004157 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879890 19879891 rs776764837 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19879956 19879957 rs149996511 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19879959 19879960 rs181039609 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19879980 19879981 rs569457206 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19879989 19879990 rs536713464 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19880003 19880004 rs555452798 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19880137 19880138 rs762748136 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880150 19880151 rs566877989 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19880173 19880174 rs186433859 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19880198 19880199 rs552840741 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19880222 19880223 rs2824867 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.376195 0.215812 unknown exact 1 16 1000GENOMES,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19880258 19880259 rs191147550 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19880272 19880273 rs7283560 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.031825 0.122064 unknown exact 1 7 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,TISHKOFF, 2 G,T, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 736 chr21 19880282 19880283 rs4818417 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.391769 0.205917 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1339.000000,3669.000000, 0.267372,0.732628, maf-5-some-pop,maf-5-all-pops 736 chr21 19880336 19880337 rs542708034 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19880353 19880354 rs561413305 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19880360 19880361 rs528483502 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19880420 19880421 rs767334513 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880436 19880437 rs2824868 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 25 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19880472 19880473 rs4818418 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19880474 19880475 rs532667047 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19880508 19880508 rs35999432 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19880529 19880530 rs2824869 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.376195 0.215812 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19880546 19880547 rs7280182 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.031439 0.121371 unknown exact 1 5 1000GENOMES,BCM_SSAHASNP,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,C, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 736 chr21 19880577 19880578 rs146058255 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19880578 19880579 rs749009287 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880598 19880599 rs2824870 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.376195 0.215812 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19880642 19880643 rs567065744 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19880660 19880661 rs537230153 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19880662 19880663 rs779378411 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880674 19880675 rs549275520 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19880698 19880699 rs140082639 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 20.000000,4988.000000, 0.003994,0.996006, 736 chr21 19880709 19880710 rs4816776 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19880715 19880716 rs182981846 0 + C C A/C genomic single by-frequency,by-1000genomes 0.030665 0.119967 unknown exact 1 1 1000GENOMES, 2 A,C, 78.000000,4930.000000, 0.015575,0.984425, 736 chr21 19880717 19880718 rs11910047 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.142272 0.225598 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4622.000000,386.000000, 0.922923,0.077077, maf-5-some-pop 736 chr21 19880724 19880725 rs78926880 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19880725 19880726 rs76790713 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19880727 19880728 rs62215971 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 BCMHGSC_JDW, 0 736 chr21 19880732 19880733 rs557225330 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19880735 19880736 rs545733013 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19880793 19880794 rs772087852 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19880801 19880802 rs185957559 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19880808 19880809 rs775939624 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880811 19880812 rs374116582 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 736 chr21 19880827 19880828 rs375752286 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19880840 19880841 rs559609272 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19880850 19880851 rs572716628 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19880862 19880863 rs551782814 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19880865 19880866 rs4816777 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.376394 0.215696 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3749.000000,1259.000000, 0.748602,0.251398, maf-5-some-pop,maf-5-all-pops 736 chr21 19880874 19880875 rs867807877 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19880875 19880876 rs776675073 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880881 19880882 rs762086932 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880903 19880904 rs537595721 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19880904 19880905 rs36125048 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 9 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,PJP, 2 A,T, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19880923 19880924 rs774251752 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19880942 19880943 rs146492907 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19880967 19880968 rs530559962 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19880978 19880979 rs565246105 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19880988 19880989 rs577178406 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881015 19881016 rs544535269 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881020 19881021 rs563244263 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881044 19881045 rs191674950 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19881052 19881053 rs759201751 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881054 19881055 rs867324218 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19881079 19881080 rs28387026 0 + A A A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881116 19881117 rs752625808 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881123 19881124 rs560334317 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881151 19881152 rs528138920 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881160 19881161 rs867980508 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19881163 19881164 rs549958292 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19881166 19881167 rs546296303 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19881173 19881175 rs386816766 0 + CC CC CC/TT genomic mnp unknown 0 0 unknown rangeSubstitution 1 FlankMismatchGenomeEqual 1 TISHKOFF, 0 736 chr21 19881180 19881182 rs386816767 0 + CA CA CA/TG genomic mnp unknown 0 0 unknown rangeSubstitution 1 FlankMismatchGenomeEqual 1 TISHKOFF, 0 736 chr21 19881181 19881182 rs2824871 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 21 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19881216 19881217 rs538673853 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881224 19881225 rs80205071 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 5 1000GENOMES,BGI,GMI,JMKIDD_LAB,SSMP, 2 C,G, 4983.000000,25.000000, 0.995008,0.004992, 736 chr21 19881261 19881262 rs763765026 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881265 19881266 rs569166082 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881278 19881278 rs776431256 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881339 19881340 rs2824872 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19881340 19881341 rs552558208 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881351 19881352 rs554778311 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19881372 19881373 rs117041187 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 52.000000,4956.000000, 0.010383,0.989617, maf-5-some-pop 736 chr21 19881395 19881396 rs142154196 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19881459 19881460 rs758627339 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881464 19881465 rs117509320 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19881481 19881482 rs372839746 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19881493 19881494 rs577168445 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881512 19881514 rs796682212 0 + AT AT -/AT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881512 19881512 rs5842698 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown between 1 MixedObserved 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,A, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19881513 19881514 rs568560515 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19881513 19881513 rs770360043 0 + - - -/A/AT genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19881514 19881514 rs869298342 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 DEVINE_LAB, 0 736 chr21 19881517 19881517 rs566890609 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.002792 0.037256 unknown between 1 1 1000GENOMES, 2 -,A, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19881521 19881522 rs111749484 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19881524 19881525 rs544637872 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881545 19881546 rs867420303 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19881556 19881557 rs79091234 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19881564 19881565 rs80242455 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.030665 0.119967 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 4930.000000,78.000000, 0.984425,0.015575, maf-5-some-pop 736 chr21 19881593 19881594 rs544661912 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19881618 19881619 rs56113719 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19881625 19881626 rs536799491 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19881627 19881628 rs542131217 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881650 19881651 rs140388158 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881671 19881672 rs527880166 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19881681 19881682 rs546286027 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881688 19881689 rs752397 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.376394 0.215696 unknown exact 1 23 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1259.000000,3749.000000, 0.251398,0.748602, maf-5-some-pop,maf-5-all-pops 736 chr21 19881699 19881700 rs183068436 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881705 19881706 rs550577010 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881711 19881712 rs376894834 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19881734 19881735 rs77581220 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 unknown exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 736 chr21 19881735 19881736 rs188014385 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881768 19881769 rs566622033 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19881775 19881776 rs200341264 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19881818 19881819 rs150299467 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881820 19881821 rs558776290 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19881821 19881822 rs1631586 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.020942 0.100162 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 736 chr21 19881826 19881827 rs544298172 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19881916 19881917 rs556484712 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19881976 19881977 rs574748638 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19881983 19881984 rs142085384 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19882017 19882018 rs554088009 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19882019 19882020 rs572296347 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19882020 19882021 rs111907078 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 8 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 62.000000,4946.000000, 0.012380,0.987620, 736 chr21 19882027 19882028 rs372042210 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19882046 19882047 rs767717379 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19882088 19882089 rs79408756 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 unknown exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 736 chr21 19882107 19882108 rs145833489 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 A,T, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19882124 19882125 rs775422323 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19882126 19882127 rs9798667 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19882139 19882140 rs192681229 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882146 19882147 rs138712668 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19882158 19882159 rs182343152 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19882163 19882164 rs559598067 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19882183 19882184 rs749146560 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19882192 19882193 rs764104922 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19882215 19882216 rs9983446 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376394 0.215696 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1259.000000,3749.000000, 0.251398,0.748602, maf-5-some-pop,maf-5-all-pops 736 chr21 19882216 19882217 rs541414818 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19882221 19882222 rs552379043 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19882222 19882223 rs570578771 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19882236 19882237 rs554990357 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19882243 19882244 rs538294931 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882254 19882255 rs9984483 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19882260 19882261 rs749982168 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19882303 19882304 rs758053611 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19882308 19882309 rs187651758 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882334 19882335 rs571664810 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19882468 19882469 rs9984661 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376394 0.215696 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3749.000000,1259.000000, 0.748602,0.251398, maf-5-some-pop,maf-5-all-pops 736 chr21 19882472 19882473 rs4572670 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.376394 0.215696 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1259.000000,3749.000000, 0.251398,0.748602, maf-5-some-pop,maf-5-all-pops 736 chr21 19882513 19882514 rs532566841 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19882545 19882546 rs192634661 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19882583 19882584 rs546408066 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19882584 19882585 rs62215972 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.244205 0.249933 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 16 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4295.000000,713.000000, 0.857628,0.142372, maf-5-some-pop 736 chr21 19882601 19882602 rs556332333 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19882604 19882605 rs9984767 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.376394 0.215696 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3749.000000,1259.000000, 0.748602,0.251398, maf-5-some-pop,maf-5-all-pops 736 chr21 19882624 19882625 rs562492176 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882640 19882641 rs529707116 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882645 19882646 rs4818419 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19882651 19882652 rs560460739 0 + T T A/C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882696 19882697 rs117888747 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4922.000000,86.000000, 0.982827,0.017173, maf-5-some-pop 736 chr21 19882728 19882729 rs568417693 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19882749 19882750 rs184785046 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19882760 19882761 rs570577975 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19882765 19882766 rs149412200 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19882768 19882769 rs550236254 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882773 19882774 rs770286584 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19882783 19882784 rs374209632 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19882784 19882785 rs4818420 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.3742 0.216966 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3760.000000,1248.000000, 0.750799,0.249201, maf-5-some-pop,maf-5-all-pops 736 chr21 19882810 19882811 rs535435417 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882836 19882837 rs371350371 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19882855 19882856 rs760501362 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19882863 19882864 rs768749893 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19882888 19882889 rs143762911 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19882918 19882919 rs190061674 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19882920 19882921 rs866050857 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19882921 19882922 rs148178689 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882962 19882963 rs28415313 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19882966 19882967 rs576576857 0 + G G A/C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19882968 19882969 rs375681862 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19882997 19882998 rs539241153 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19883017 19883026 rs571062306 0 + GGCAGAAGT GGCAGAAGT -/GGCAGAAGT genomic deletion by-frequency,by-1000genomes 0.00319 0.039809 unknown range 1 1 1000GENOMES, 2 -,GGCAGAAGT, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19883035 19883036 rs55975184 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19883041 19883042 rs117701016 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.163892 0.234703 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4557.000000,451.000000, 0.909944,0.090056, maf-5-some-pop,maf-5-all-pops 736 chr21 19883044 19883045 rs763315168 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19883047 19883048 rs765990870 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883098 19883099 rs867584596 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19883099 19883100 rs541970419 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19883106 19883107 rs560158749 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883134 19883135 rs192927004 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19883150 19883151 rs572071549 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883188 19883189 rs751942343 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883211 19883212 rs546073550 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883225 19883226 rs755295489 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883237 19883238 rs371674544 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19883245 19883256 rs564984214 0 + GTGAGAAGAGG GTGAGAAGAGG -/GTGAGAAGAGG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,GTGAGAAGAGG, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19883247 19883248 rs184856920 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19883252 19883253 rs531516788 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883259 19883260 rs549737869 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883269 19883270 rs561567295 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883281 19883282 rs9976142 0 + C C A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.376195 0.215812 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 17 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19883302 19883303 rs74314803 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,BGI,GMI, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19883303 19883304 rs555249494 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883311 19883312 rs777757064 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883351 19883352 rs749365430 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883358 19883359 rs369735778 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19883382 19883383 rs757576551 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883410 19883411 rs565690981 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19883411 19883412 rs375607919 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 BILGI_BIOE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883421 19883422 rs539496712 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19883425 19883426 rs552042812 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883426 19883427 rs140010270 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19883475 19883476 rs117249022 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19883493 19883494 rs374289983 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19883503 19883504 rs543825873 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19883514 19883515 rs189781199 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883544 19883545 rs2824873 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.492435 0.061035 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2812.000000,2196.000000, 0.561502,0.438498, maf-5-some-pop,maf-5-all-pops 736 chr21 19883546 19883547 rs755018462 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19883555 19883556 rs535493372 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883558 19883559 rs748097832 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883612 19883613 rs553954571 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883629 19883630 rs781248312 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19883653 19883654 rs571994965 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19883690 19883691 rs545512559 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883693 19883694 rs769737335 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883717 19883718 rs2824874 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19883733 19883734 rs576229877 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883752 19883753 rs543327634 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883757 19883758 rs546074877 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19883764 19883765 rs561504128 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883777 19883778 rs2824875 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19883786 19883787 rs115394261 0 + C C C/T genomic single by-frequency,by-1000genomes 0.023675 0.106192 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4948.000000,60.000000, 0.988019,0.011981, maf-5-some-pop 736 chr21 19883787 19883788 rs559461641 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19883789 19883790 rs61616695 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19883869 19883870 rs533345186 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883876 19883877 rs576191216 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19883887 19883888 rs777491870 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883891 19883892 rs570056462 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19883899 19883900 rs531079581 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19883925 19883926 rs111861415 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19883946 19883947 rs773926822 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19883947 19883948 rs146340775 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19883977 19883978 rs2824876 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 15 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19883986 19883987 rs553885015 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19884047 19884052 rs148783751 0 + AAGAA AAGAA -/AAGAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.020551 0.099263 unknown range 1 3 1000GENOMES,EVA_DECODE,LUNTER, 2 -,AAGAA, 52.000000,4956.000000, 0.010383,0.989617, 736 chr21 19884067 19884068 rs370685520 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884107 19884108 rs773789161 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19884113 19884113 rs745359197 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA_DECODE, 0 736 chr21 19884119 19884120 rs139304032 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19884143 19884144 rs557433386 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884144 19884145 rs117926151 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003591 0.042219 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4995.000000, 0.001799,0.998201, 736 chr21 19884145 19884147 rs562383774 0 + AT AT -/AT genomic deletion by-cluster,by-frequency,by-1000genomes 0.001599 0.028231 unknown range 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AT, 4.000000,4995.000000, 0.000800,0.999200, 736 chr21 19884149 19884150 rs114766436 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 80.000000,4928.000000, 0.015974,0.984026, maf-5-some-pop 736 chr21 19884163 19884164 rs149729750 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884187 19884188 rs777074352 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19884210 19884211 rs753074652 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19884220 19884221 rs180789756 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19884261 19884262 rs115734850 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.08108 0.184299 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 212.000000,4796.000000, 0.042332,0.957668, maf-5-some-pop 736 chr21 19884283 19884284 rs145544045 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19884308 19884309 rs56365763 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB, 0 736 chr21 19884366 19884367 rs148481960 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19884382 19884383 rs765455958 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19884415 19884416 rs545501605 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19884433 19884434 rs145280050 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19884434 19884435 rs376219670 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19884496 19884497 rs530979348 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884499 19884500 rs753899565 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19884501 19884502 rs757342721 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19884544 19884545 rs549686881 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19884585 19884586 rs779295909 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19884603 19884604 rs567744663 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19884631 19884632 rs370764686 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19884679 19884680 rs147565951 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19884702 19884703 rs185452467 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884711 19884712 rs773623771 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19884714 19884715 rs547187402 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884718 19884719 rs571826057 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19884730 19884731 rs758685747 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19884731 19884732 rs780884863 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19884734 19884735 rs141993515 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19884738 19884739 rs145746960 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19884745 19884746 rs2026211 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.391583 0.206044 unknown exact 1 25 1000GENOMES,ABI,AFFY,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1338.000000,3670.000000, 0.267173,0.732827, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19884749 19884750 rs766604317 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19884775 19884776 rs147810632 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884789 19884790 rs564413239 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19884800 19884801 rs188343606 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19884816 19884817 rs181831476 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19884836 19884837 rs140189132 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19884876 19884877 rs533515515 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19884877 19884878 rs373423079 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19884978 19884979 rs150459223 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 736 chr21 19884981 19884982 rs368571220 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 736 chr21 19885024 19885025 rs538852527 0 + G G A/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 0 736 chr21 19885030 19885031 rs138246926 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.023675 0.106192 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 G,T, 4948.000000,60.000000, 0.988019,0.011981, 736 chr21 19885036 19885037 rs149646182 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885081 19885082 rs145144772 0 + T T A/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,T, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19885086 19885087 rs543070310 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885087 19885088 rs186448351 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19885088 19885089 rs191666574 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19885111 19885112 rs372576717 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19885118 19885119 rs9979412 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.376592 0.215579 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1260.000000,3748.000000, 0.251597,0.748403, maf-5-some-pop,maf-5-all-pops 736 chr21 19885139 19885140 rs1735749 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.338296 0.233889 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1080.000000,3928.000000, 0.215655,0.784345, maf-5-some-pop 736 chr21 19885157 19885158 rs551180173 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885164 19885179 rs764438847 0 + AACAACAACAACAAC AACAACAACAACAAC -/AACAACAACAACAAC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885164 19885164 rs533140021 0 + - - -/AAC genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 SSIP,SSMP, 0 736 chr21 19885176 19885179 rs770725046 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885182 19885197 rs151141574 0 + AACAACAACAACAAA AACAACAACAACAAA -/AACAACAACAACAAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.385359 0.210185 unknown range 1 MixedObserved 5 1000GENOMES,EVA_GENOME_DK,GMI,HAMMER_LAB,LUNTER, 2 -,AACAACAACAACAAA, 1305.000000,3703.000000, 0.260583,0.739417, maf-5-some-pop,maf-5-all-pops 736 chr21 19885182 19885198 rs757437797 0 + AACAACAACAACAAAA AACAACAACAACAAAA -/AACAACAACAACAAAA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885182 19885182 rs766676450 0 + - - -/AACAACAACAACAAA genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 DDI, 0 736 chr21 19885183 19885184 rs569767697 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19885183 19885198 rs749695272 0 + ACAACAACAACAAAA ACAACAACAACAAAA -/ACAACAACAACAAAA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885184 19885199 rs538498414 0 + CAACAACAACAAAAA CAACAACAACAAAAA -/CAACAACAACAAAAA genomic deletion unknown 0 0 unknown range 1 1 HGSV, 0 736 chr21 19885193 19885194 rs536629974 0 + C C A/C genomic single by-frequency,by-1000genomes 0.178465 0.239547 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 496.000000,4512.000000, 0.099041,0.900958, maf-5-some-pop 736 chr21 19885196 19885197 rs13049913 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 unknown exact 1 MixedObserved 8 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,SSAHASNP, 2 A,C, 4931.000000,77.000000, 0.984625,0.015375, 736 chr21 19885196 19885196 rs201802574 0 + - - -/C genomic insertion by-1000genomes 0 0 unknown between 1 MixedObserved 1 1000GENOMES, 0 736 chr21 19885204 19885205 rs374936781 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 3 HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 736 chr21 19885290 19885291 rs183590175 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885302 19885303 rs755073441 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19885338 19885339 rs376734188 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19885371 19885372 rs141992340 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885372 19885373 rs79887841 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 80.000000,4928.000000, 0.015974,0.984026, 736 chr21 19885373 19885374 rs775742340 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885383 19885384 rs767580981 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19885396 19885397 rs2824877 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.149665 0.228982 unknown exact 1 12 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,T, 408.000000,4600.000000, 0.081470,0.918530, maf-5-some-pop 736 chr21 19885411 19885412 rs186514816 0 + A A A/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885414 19885415 rs538859497 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885417 19885418 rs754342968 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885426 19885427 rs557151538 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885434 19885435 rs575778822 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885434 19885435 rs755016100 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885436 19885437 rs867973714 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19885458 19885459 rs543157428 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885470 19885471 rs372089450 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19885479 19885480 rs191289665 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885496 19885497 rs568838087 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19885497 19885498 rs540566114 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885517 19885518 rs765476889 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885528 19885529 rs781244626 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885532 19885533 rs2824878 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap 0.475309 0.108333 unknown exact 1 MixedObserved 6 ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,PERLEGEN,TISHKOFF, 2 C,T, 66.000000,42.000000, 0.611111,0.388889, maf-5-some-pop,maf-5-all-pops 736 chr21 19885532 19885533 rs57395217 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.390838 0.206555 unknown exact 1 MixedObserved 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,LUNTER,SSMP, 2 -,C, 1334.000000,3674.000000, 0.266374,0.733626, maf-5-some-pop,maf-5-all-pops 736 chr21 19885532 19885534 rs748896557 0 + CT CT -/CT genomic deletion unknown 0 0 unknown range 1 MixedObserved 3 BCMHGSC_JDW,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885533 19885534 rs77319409 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19885535 19885536 rs565612622 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19885536 19885537 rs371202958 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19885581 19885582 rs532581209 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885627 19885628 rs146298885 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19885647 19885648 rs2824879 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.303938 0.244112 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4072.000000,936.000000, 0.813099,0.186901, maf-5-some-pop,maf-5-all-pops 736 chr21 19885673 19885674 rs756908921 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19885674 19885675 rs369436933 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19885690 19885691 rs780271779 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885718 19885719 rs530489688 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885719 19885720 rs577664893 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19885734 19885735 rs2824880 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 21 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3750.000000,1258.000000, 0.748802,0.251198, maf-5-some-pop,maf-5-all-pops 736 chr21 19885738 19885739 rs7278367 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 BCM_SSAHASNP, 0 736 chr21 19885745 19885746 rs755870531 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885765 19885766 rs777585162 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885768 19885769 rs868357313 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19885790 19885791 rs374772466 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19885813 19885814 rs566878052 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885816 19885817 rs148536507 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885845 19885846 rs546560761 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885854 19885855 rs28541883 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.303688 0.244167 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4073.000000,935.000000, 0.813299,0.186701, maf-5-some-pop 736 chr21 19885889 19885890 rs367806595 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,HAMMER_LAB,SSIP,TISHKOFF, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19885891 19885892 rs117105057 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19885917 19885918 rs575518832 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885918 19885919 rs536696602 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19885949 19885950 rs770825576 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19885954 19885955 rs555146820 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19885998 19885999 rs573265401 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886018 19886019 rs182141596 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19886020 19886021 rs540656532 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886093 19886094 rs771512581 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19886137 19886138 rs371679847 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19886139 19886140 rs565418938 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19886141 19886142 rs577439521 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886170 19886174 rs71765790 0 + ATAA ATAA -/ATAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.304154 0.244064 unknown range 1 9 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,ATAA, 932.000000,4050.000000, 0.187073,0.812927, maf-5-some-pop,maf-5-all-pops 736 chr21 19886174 19886174 rs540876080 0 + - - -/ATAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.012676 0.078597 unknown between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,ATAA, 4050.000000,26.000000, 0.993621,0.006379, 736 chr21 19886284 19886285 rs373517121 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19886304 19886305 rs376963592 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19886312 19886313 rs544596598 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19886323 19886324 rs562703181 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886345 19886346 rs2824881 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.303938 0.244112 unknown exact 1 18 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4072.000000,936.000000, 0.813099,0.186901, maf-5-some-pop 736 chr21 19886346 19886347 rs186568801 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19886359 19886360 rs542313987 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19886372 19886373 rs560681488 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886396 19886397 rs2824882 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.303938 0.244112 unknown exact 1 18 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4072.000000,936.000000, 0.813099,0.186901, maf-5-some-pop 736 chr21 19886411 19886412 rs546545200 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19886424 19886425 rs576046394 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_GENOME_DK, 0 736 chr21 19886432 19886433 rs2245722 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.303938 0.244112 unknown exact 1 15 1000GENOMES,ABI,BCM_SSAHASNP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,PERLEGEN,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 936.000000,4072.000000, 0.186901,0.813099, maf-5-some-pop,maf-5-all-pops 736 chr21 19886433 19886434 rs141867827 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19886450 19886451 rs550896548 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886454 19886455 rs569069962 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19886502 19886503 rs775144761 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19886519 19886520 rs536490837 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19886555 19886556 rs191299677 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886573 19886574 rs566999468 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19886576 19886577 rs2824883 0 + G G C/G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.38161 0.227401 unknown exact 1 SingleClassTriAllelic 21 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 3 C,G,T, 1195.000000,3752.000000,61.000000, 0.238618,0.749201,0.012180, maf-5-some-pop,maf-5-all-pops 736 chr21 19886577 19886578 rs577180008 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886594 19886595 rs544845840 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19886659 19886660 rs2824884 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.376195 0.215812 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop,maf-5-all-pops 736 chr21 19886676 19886677 rs2824885 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.146985 0.227789 unknown exact 1 12 1000GENOMES,ABI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4608.000000,400.000000, 0.920128,0.079872, maf-5-some-pop 736 chr21 19886685 19886686 rs183102200 0 + T T A/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,EVA-GONL, 0 736 chr21 19886686 19886687 rs966179 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.42263 0.180829 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1519.000000,3489.000000, 0.303315,0.696685, maf-5-some-pop,maf-5-all-pops 736 chr21 19886701 19886702 rs572667781 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19886728 19886729 rs374748170 0 + G G C/G genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19886743 19886744 rs150776774 0 + A A A/C genomic single by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 1 1000GENOMES, 2 A,C, 4969.000000,39.000000, 0.992212,0.007788, 736 chr21 19886788 19886789 rs2824886 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.375996 0.215928 unknown exact 1 23 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 3751.000000,1257.000000, 0.749002,0.250998, maf-5-some-pop,maf-5-all-pops 736 chr21 19886851 19886852 rs2824887 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.375996 0.215928 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 3751.000000,1257.000000, 0.749002,0.250998, maf-5-some-pop,maf-5-all-pops 736 chr21 19886891 19886892 rs59997135 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.303688 0.244167 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,LUNTER,PJP,SSMP, 2 -,T, 935.000000,4073.000000, 0.186701,0.813299, maf-5-some-pop,maf-5-all-pops 736 chr21 19886897 19886898 rs796800761 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 HGSV, 0 736 chr21 19886911 19886912 rs550884582 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886950 19886951 rs188947646 0 + T T C/T genomic single by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 1 1000GENOMES, 2 C,T, 80.000000,4928.000000, 0.015974,0.984026, 736 chr21 19886970 19886971 rs752817924 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19886973 19886974 rs139127828 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19886997 19886998 rs551392557 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19887017 19887018 rs548378864 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887030 19887031 rs551473952 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19887085 19887086 rs77320924 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4969.000000,39.000000, 0.992212,0.007788, maf-5-some-pop 736 chr21 19887091 19887092 rs766513757 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887131 19887132 rs74385364 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 39.000000,4969.000000, 0.007788,0.992212, maf-5-some-pop 736 chr21 19887167 19887168 rs751744592 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887199 19887200 rs558788465 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887221 19887222 rs755142386 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887231 19887231 rs5842699 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19887263 19887264 rs570824459 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887295 19887296 rs537891531 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19887296 19887297 rs760585704 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19887309 19887310 rs145218948 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19887323 19887324 rs777611215 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887369 19887370 rs726082 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.375996 0.215928 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1257.000000,3751.000000, 0.250998,0.749002, maf-5-some-pop,maf-5-all-pops 736 chr21 19887379 19887380 rs757208254 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887397 19887398 rs778783672 0 + T T A/C/T genomic single unknown 0 0 unknown exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887442 19887443 rs542131179 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887444 19887445 rs553905903 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19887453 19887454 rs572554955 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19887461 19887462 rs76587392 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19887464 19887465 rs533569302 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887482 19887483 rs193148619 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887489 19887490 rs185281850 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887508 19887509 rs189789443 0 + C C C/T genomic single by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 1 1000GENOMES, 2 C,T, 4968.000000,40.000000, 0.992013,0.007987, 736 chr21 19887521 19887522 rs553875125 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19887535 19887536 rs573810469 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19887540 19887541 rs529983929 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887557 19887558 rs191665533 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19887579 19887580 rs140610799 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 3 1000GENOMES,EVA-GONL,TISHKOFF, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 736 chr21 19887588 19887589 rs753614391 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19887611 19887612 rs368060051 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19887631 19887632 rs75841432 0 + A A A/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19887632 19887633 rs755889058 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19887643 19887644 rs3832323 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 YUSUKE, 0 736 chr21 19887668 19887669 rs560249071 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887691 19887692 rs556042906 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19887719 19887720 rs527542413 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887720 19887721 rs372146533 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19887726 19887727 rs552634091 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19887729 19887730 rs570894528 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19887752 19887753 rs28522821 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.303438 0.244222 unknown exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 934.000000,4074.000000, 0.186502,0.813498, maf-5-some-pop,maf-5-all-pops 736 chr21 19887775 19887776 rs777179689 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887785 19887786 rs544849963 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19887825 19887826 rs778550450 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19887869 19887870 rs2245831 0 - A A C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.376592 0.215579 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 2 C,T, 1260.000000,3748.000000, 0.251597,0.748403, maf-5-some-pop,maf-5-all-pops 736 chr21 19887871 19887872 rs184254123 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 A,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19887893 19887894 rs770452899 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19887903 19887904 rs535702312 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19887929 19887930 rs77094315 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19887966 19887967 rs372785591 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 736 chr21 19887967 19887968 rs113616790 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 COMPLETE_GENOMICS, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19887980 19887982 rs757583181 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19888025 19888026 rs2824888 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.095216 0.196321 unknown exact 1 17 1000GENOMES,AFFY,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 251.000000,4757.000000, 0.050120,0.949880, maf-5-some-pop 736 chr21 19888048 19888050 rs529856388 0 + CT CT -/CT genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown range 1 1 1000GENOMES, 2 -,CT, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19888060 19888061 rs540294567 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19888070 19888071 rs80301747 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4976.000000,32.000000, 0.993610,0.006390, 736 chr21 19888099 19888100 rs746502595 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19888108 19888109 rs774289657 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19888128 19888129 rs144246665 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19888136 19888137 rs7510545 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SC_JCM, 0 736 chr21 19888147 19888158 rs772637579 0 + TTTCTTTCAAT TTTCTTTCAAT -/TTTCTTTCAAT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19888148 19888149 rs188095371 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888169 19888170 rs770247550 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19888193 19888194 rs78610159 0 + A A A/C genomic single unknown 0.375 0.216506 unknown exact 1 1 ENSEMBL, 2 A,C, 3.000000,1.000000, 0.750000,0.250000, 736 chr21 19888201 19888202 rs574490973 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888202 19888203 rs542144386 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19888228 19888229 rs145440616 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888230 19888231 rs1735751 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.024064 0.107019 unknown exact 1 4 1000GENOMES,SC_JCM,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 61.000000,4947.000000, 0.012180,0.987819, 736 chr21 19888264 19888265 rs552054907 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19888272 19888273 rs180909166 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19888273 19888274 rs185646915 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888315 19888316 rs190562253 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19888345 19888346 rs541400868 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19888352 19888353 rs753665958 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19888371 19888372 rs756981048 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19888380 19888381 rs542412269 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19888401 19888402 rs778306292 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19888406 19888407 rs537757206 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19888412 19888413 rs62215974 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.376791 0.215463 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 1261.000000,3747.000000, 0.251797,0.748203, maf-5-some-pop,maf-5-all-pops 736 chr21 19888413 19888414 rs201840838 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,GMI, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19888426 19888427 rs548053631 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888454 19888455 rs2245939 0 - C C A/G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.393558 0.22055 unknown exact 1 SingleClassTriAllelic 20 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM,YUSUKE, 3 A,G,T, 1255.000000,3692.000000,61.000000, 0.250599,0.737220,0.012180, maf-5-some-pop,maf-5-all-pops 736 chr21 19888478 19888479 rs779659575 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19888486 19888487 rs558034629 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19888494 19888495 rs576721006 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888539 19888540 rs537894523 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888542 19888543 rs556342919 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19888554 19888555 rs574478716 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19888555 19888555 rs141556253 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.375996 0.215928 unknown between 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 3751.000000,1257.000000, 0.749002,0.250998, maf-5-some-pop,maf-5-all-pops 736 chr21 19888562 19888562 rs398121478 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 736 chr21 19888599 19888600 rs376314158 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888608 19888609 rs143483513 0 + C C C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19888637 19888638 rs572209553 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19888644 19888645 rs2824889 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.226484 0.248891 unknown exact 1 19 1000GENOMES,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 652.000000,4356.000000, 0.130192,0.869808, maf-5-some-pop 736 chr21 19888694 19888695 rs181707322 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19888715 19888716 rs531446805 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19888732 19888733 rs186908584 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19888739 19888740 rs2824890 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.301932 0.244547 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 928.000000,4080.000000, 0.185304,0.814696, maf-5-some-pop,maf-5-all-pops 736 chr21 19888742 19888743 rs529227787 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19888752 19888754 rs71930604 0 + AC AC -/AC genomic deletion by-cluster,by-frequency,by-1000genomes 0.307176 0.243374 unknown range 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,AC, 949.000000,4059.000000, 0.189497,0.810503, maf-5-some-pop,maf-5-all-pops 736 chr21 19888765 19888767 rs57880038 0 + CA CA -/CA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 3 BCMHGSC_JDW,HGSV,TISHKOFF, 0 736 chr21 19888765 19888766 rs201801033 0 - C C G/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 1 ILLUMINA, 0 736 chr21 19888794 19888795 rs780949644 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19888800 19888801 rs547447003 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19888833 19888834 rs369170410 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19888848 19888849 rs566080735 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19888850 19888851 rs191931507 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19888853 19888854 rs552055345 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19888867 19888868 rs748525072 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19888895 19888896 rs866180978 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19888919 19888920 rs59138824 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown exact 1 6 1000GENOMES,HGSV,ILLUMINA,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 59.000000,4949.000000, 0.011781,0.988219, maf-5-some-pop 736 chr21 19888971 19888972 rs537684416 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19888974 19888975 rs372944750 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4985.000000,23.000000, 0.995407,0.004593, 736 chr21 19888980 19888981 rs2824891 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.301932 0.244547 unknown exact 1 24 1000GENOMES,BCMHGSC_JDW,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 928.000000,4080.000000, 0.185304,0.814696, maf-5-some-pop,maf-5-all-pops 736 chr21 19888984 19888985 rs375130950 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19889039 19889040 rs556302218 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19889042 19889043 rs535549464 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19889043 19889044 rs569398285 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19889048 19889049 rs75079944 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 A,C, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19889075 19889076 rs554371810 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19889077 19889078 rs572007916 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19889108 19889109 rs545774085 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19889134 19889135 rs538074762 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19889163 19889164 rs181044287 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19889189 19889190 rs749872748 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889221 19889222 rs9977569 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.014274 0.083265 unknown exact 1 3 1000GENOMES,ILLUMINA,WUGSC_SSAHASNP, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 736 chr21 19889355 19889356 rs561567528 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19889365 19889366 rs529334774 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19889402 19889403 rs771310680 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889468 19889469 rs541525325 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19889469 19889470 rs761519199 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19889472 19889473 rs558405542 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889503 19889504 rs759494429 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889572 19889573 rs559441878 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19889583 19889584 rs2824892 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.300926 0.244758 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 924.000000,4084.000000, 0.184505,0.815495, maf-5-some-pop,maf-5-all-pops 736 chr21 19889645 19889646 rs775633282 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889654 19889655 rs551779374 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19889669 19889670 rs9978040 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.300926 0.244758 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 924.000000,4084.000000, 0.184505,0.815495, maf-5-some-pop,maf-5-all-pops 736 chr21 19889691 19889692 rs34955299 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 10 1000GENOMES,ABI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,PJP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19889773 19889774 rs575849382 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19889782 19889783 rs868465693 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19889803 19889804 rs549574194 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19889805 19889806 rs2824893 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.281577 0.247998 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4159.000000,849.000000, 0.830471,0.169529, maf-5-some-pop,maf-5-all-pops 736 chr21 19889818 19889819 rs758405883 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889821 19889822 rs766175826 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889860 19889861 rs751108351 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889896 19889897 rs79657252 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 unknown exact 1 3 1000GENOMES,ILLUMINA,SSMP, 2 C,T, 80.000000,4928.000000, 0.015974,0.984026, 736 chr21 19889942 19889943 rs553876632 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19889960 19889960 rs770209817 0 + - - -/GCTTG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19889998 19889999 rs185515156 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19890032 19890033 rs542674266 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890074 19890075 rs781002954 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890084 19890085 rs752454234 0 + A A A/C genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890109 19890110 rs539453291 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890144 19890145 rs1735752 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.032598 0.123435 unknown exact 1 4 1000GENOMES,ABI,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 83.000000,4925.000000, 0.016573,0.983427, maf-5-some-pop 736 chr21 19890166 19890167 rs189689864 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19890195 19890196 rs778240664 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890201 19890202 rs371141980 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 BILGI_BIOE, 0 736 chr21 19890225 19890226 rs367802410 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19890230 19890231 rs536963962 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890234 19890235 rs749566267 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890235 19890236 rs182361906 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19890251 19890252 rs573784259 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19890279 19890280 rs188969892 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19890283 19890284 rs778152322 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19890331 19890332 rs559840213 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890339 19890340 rs577944213 0 + A A A/C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19890354 19890355 rs745976217 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890400 19890401 rs545449814 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19890402 19890403 rs563697067 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890459 19890460 rs531186922 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890485 19890486 rs192072532 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19890500 19890501 rs549699076 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19890509 19890510 rs370614936 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19890517 19890518 rs2824894 0 + C C A/C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.301932 0.244547 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 20 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 928.000000,4080.000000, 0.185304,0.814696, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19890536 19890537 rs865794844 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19890552 19890553 rs760931567 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890557 19890558 rs768848484 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890562 19890563 rs184113057 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890565 19890566 rs547155830 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19890576 19890577 rs773077685 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890602 19890603 rs28593193 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 736 chr21 19890646 19890650 rs763207791 0 + AAGT AAGT -/AAGT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890661 19890662 rs2824895 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.302936 0.244331 unknown exact 1 21 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 932.000000,4076.000000, 0.186102,0.813898, maf-5-some-pop,maf-5-all-pops 736 chr21 19890684 19890685 rs2824896 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.302183 0.244493 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4079.000000,929.000000, 0.814497,0.185503, maf-5-some-pop,maf-5-all-pops 736 chr21 19890703 19890704 rs188259877 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890720 19890721 rs565172065 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19890737 19890738 rs751392754 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890739 19890740 rs536905316 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890754 19890755 rs759531796 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890760 19890761 rs2824897 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.303938 0.244112 unknown exact 1 23 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 936.000000,4072.000000, 0.186901,0.813099, maf-5-some-pop,maf-5-all-pops 736 chr21 19890766 19890767 rs573750686 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890768 19890769 rs192161832 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890799 19890800 rs553174701 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890843 19890844 rs752223046 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19890858 19890859 rs140695695 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19890873 19890874 rs184006440 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19890941 19890942 rs796670599 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 736 chr21 19890966 19890967 rs563636100 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19890979 19890980 rs145639723 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19891039 19891040 rs543343035 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19891054 19891055 rs116304329 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 736 chr21 19891089 19891090 rs138125829 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 MixedObserved 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19891089 19891091 rs547715515 0 + AC AC -/AC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891097 19891098 rs547137889 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19891104 19891105 rs567230708 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891128 19891129 rs760548825 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891156 19891157 rs565359789 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19891172 19891173 rs149591895 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19891175 19891176 rs551070185 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19891176 19891177 rs2223142 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.302936 0.244331 unknown exact 1 19 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 932.000000,4076.000000, 0.186102,0.813898, maf-5-some-pop,maf-5-all-pops 736 chr21 19891198 19891199 rs569675746 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19891212 19891213 rs144302887 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19891217 19891218 rs548841660 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19891218 19891219 rs746443275 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891238 19891239 rs538417015 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19891239 19891240 rs772539658 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891246 19891247 rs558107798 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19891269 19891270 rs78571082 0 + A A A/T genomic single by-cluster,by-frequency 0.444444 0.157135 unknown exact 1 3 BGI,ENSEMBL,GMI, 2 A,T, 2.000000,4.000000, 0.333333,0.666667, 736 chr21 19891320 19891321 rs567583098 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19891388 19891389 rs187318549 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19891389 19891390 rs768714381 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19891392 19891393 rs553102075 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19891444 19891448 rs139592664 0 + AAAC AAAC -/AAAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.304438 0.244001 unknown range 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,AAAC, 938.000000,4070.000000, 0.187300,0.812700, maf-5-some-pop,maf-5-all-pops 736 chr21 19891459 19891463 rs3082213 0 + CAAA CAAA -/CAAA genomic deletion by-cluster 0 0 unknown range 1 3 HGSV,TISHKOFF,TSC-CSHL, 0 736 chr21 19891465 19891466 rs571365867 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19891473 19891476 rs757038398 0 + ACC ACC -/ACC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891475 19891476 rs780160971 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891481 19891484 rs372632603 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 4 EVA-GONL,LUNTER,SSIP,SSMP, 0 736 chr21 19891481 19891487 rs750084386 0 + AACAAC AACAAC -/AACAAC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891481 19891481 rs761870158 0 + - - -/AAC genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 EVA_DECODE, 0 736 chr21 19891484 19891487 rs775814694 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891487 19891488 rs765139616 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19891497 19891499 rs200745291 0 + AC AC -/AC genomic deletion by-cluster,by-frequency,by-1000genomes 0.302183 0.244493 unknown range 1 1 1000GENOMES, 2 -,AC, 929.000000,4079.000000, 0.185503,0.814497, maf-5-some-pop,maf-5-all-pops 736 chr21 19891498 19891499 rs3082214 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 MixedObserved 2 EVA_GENOME_DK,HGSV, 0 736 chr21 19891498 19891502 rs386816768 0 + CAAC CAAC -/A/CAAC genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 0 736 chr21 19891498 19891500 rs541329721 0 + CA CA -/CA genomic deletion unknown 0 0 unknown range 1 MixedObserved 2 HGSV,TSC-CSHL, 0 736 chr21 19891498 19891502 rs796648477 0 + CAAC CAAC A/CAAC genomic in-del unknown 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 1 HAMMER_LAB, 0 736 chr21 19891500 19891502 rs202176049 0 + AC AC -/AC genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891501 19891502 rs2205482 0 + C C A/C genomic single by-cluster,by-2hit-2allele 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 5 GMI,ILLUMINA,TISHKOFF,TSC-CSHL,WUGSC_SSAHASNP, 1 C, 2.000000, 1.000000, 736 chr21 19891501 19891502 rs376204137 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.302183 0.244493 unknown exact 1 MixedObserved 2 1000GENOMES,HGSV, 2 -,C, 929.000000,4079.000000, 0.185503,0.814497, maf-5-some-pop,maf-5-all-pops 736 chr21 19891501 19891503 rs578081296 0 + CA CA -/CA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 HGSV, 0 736 chr21 19891524 19891525 rs539127633 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19891554 19891555 rs747045971 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891562 19891563 rs9976517 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.303438 0.244222 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 934.000000,4074.000000, 0.186502,0.813498, maf-5-some-pop,maf-5-all-pops 736 chr21 19891570 19891571 rs9984967 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.302936 0.244331 unknown exact 1 15 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4076.000000,932.000000, 0.813898,0.186102, maf-5-some-pop,maf-5-all-pops 736 chr21 19891581 19891581 rs55913433 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.383439 0.21141 unknown between 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 3713.000000,1295.000000, 0.741414,0.258586, maf-5-some-pop,maf-5-all-pops 736 chr21 19891586 19891586 rs397798170 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 GMI,HGSV, 0 736 chr21 19891602 19891603 rs543080428 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19891618 19891618 rs55917021 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.383053 0.211653 unknown between 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP,TISHKOFF, 2 -,T, 3715.000000,1293.000000, 0.741813,0.258187, maf-5-some-pop,maf-5-all-pops 736 chr21 19891623 19891623 rs397722727 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 HGSV, 0 736 chr21 19891641 19891642 rs2824898 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.38286 0.211774 unknown exact 1 23 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1292.000000,3716.000000, 0.257987,0.742013, maf-5-some-pop,maf-5-all-pops 736 chr21 19891682 19891683 rs770687315 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891684 19891685 rs191405321 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19891687 19891688 rs2824899 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.38286 0.211774 unknown exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1292.000000,3716.000000, 0.257987,0.742013, maf-5-some-pop,maf-5-all-pops 736 chr21 19891688 19891689 rs533518954 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19891691 19891692 rs759585421 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891708 19891709 rs867514704 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19891759 19891760 rs73327832 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 9 1000GENOMES,COMPLETE_GENOMICS,DDI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 736 chr21 19891794 19891795 rs554694206 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19891796 19891797 rs564882071 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19891798 19891799 rs752286738 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891835 19891836 rs760196968 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891836 19891837 rs532608151 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19891880 19891881 rs753494878 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891896 19891897 rs544700336 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19891898 19891899 rs756932618 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891946 19891947 rs765564344 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891949 19891950 rs750767849 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891960 19891961 rs547096264 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19891962 19891963 rs116444472 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19891969 19891970 rs530407751 0 + T T C/G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19891974 19891975 rs780495087 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19891992 19891993 rs548926478 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19892012 19892013 rs567170430 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19892013 19892014 rs372687313 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19892043 19892044 rs747092810 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892072 19892073 rs148318869 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19892122 19892123 rs572278533 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19892126 19892127 rs79258248 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19892139 19892140 rs754952493 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892144 19892145 rs571466887 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19892167 19892168 rs574983220 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19892189 19892190 rs184448616 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19892218 19892219 rs569340008 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892253 19892254 rs116139459 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 4968.000000,40.000000, 0.992013,0.007987, maf-5-some-pop 736 chr21 19892263 19892264 rs554903578 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892266 19892267 rs143678241 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892276 19892277 rs540911075 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19892291 19892292 rs559032918 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19892327 19892328 rs748383677 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892381 19892382 rs770025452 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892445 19892446 rs147190846 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892454 19892455 rs774336230 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892465 19892466 rs541297734 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 736 chr21 19892476 19892477 rs561189239 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892529 19892530 rs117357647 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 3 1000GENOMES,GMI,SSMP, 2 G,T, 28.000000,4980.000000, 0.005591,0.994409, maf-5-some-pop 736 chr21 19892538 19892539 rs562756116 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19892544 19892545 rs530491628 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 736 chr21 19892556 19892557 rs369655636 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19892566 19892567 rs542358033 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19892577 19892578 rs560932819 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892599 19892600 rs775511873 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892600 19892601 rs73200320 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19892627 19892628 rs752131957 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19892675 19892676 rs546852897 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892697 19892698 rs181960591 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892707 19892708 rs763579820 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892716 19892717 rs776178685 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19892726 19892727 rs200970600 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19892777 19892778 rs532465454 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19892801 19892801 rs201730823 0 + - - -/GCA genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 736 chr21 19892802 19892803 rs550768431 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892824 19892825 rs569076289 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892834 19892835 rs368191694 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19892851 19892852 rs570489025 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19892886 19892887 rs757885243 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19892902 19892903 rs548433447 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19892982 19892983 rs377382188 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19892999 19893000 rs750822869 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893019 19893020 rs779529857 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19893023 19893024 rs566855662 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893113 19893114 rs371948169 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893121 19893122 rs185706487 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19893166 19893167 rs188786747 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19893169 19893170 rs538167266 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19893172 19893172 rs35036525 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19893195 19893196 rs371046581 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19893224 19893225 rs374620978 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19893241 19893242 rs549834771 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19893349 19893350 rs574699093 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893403 19893404 rs377390660 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,DDI,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893407 19893408 rs2824900 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.289942 0.246789 unknown exact 1 22 1000GENOMES,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4127.000000,881.000000, 0.824081,0.175919, maf-5-some-pop 736 chr21 19893413 19893413 rs552552781 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.002393 0.03451 unknown between 1 1 1000GENOMES, 2 -,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19893438 19893439 rs532153732 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893469 19893470 rs572784309 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19893471 19893472 rs539815559 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893478 19893479 rs564897575 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893480 19893481 rs773645189 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893518 19893520 rs145148067 0 + TG TG -/TG genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 DuplicateObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 736 chr21 19893518 19893518 rs758786040 0 + - - -/TG genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 EVA_DECODE, 0 736 chr21 19893520 19893520 rs764033328 0 + - - -/TG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893523 19893524 rs752116304 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893542 19893543 rs780143870 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19893544 19893545 rs140621814 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19893557 19893558 rs755502450 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893649 19893650 rs552254105 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19893652 19893653 rs550904745 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893653 19893654 rs75267033 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,GMI, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19893685 19893686 rs529894589 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19893721 19893722 rs571710913 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893751 19893752 rs548641630 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893758 19893759 rs756312637 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893839 19893840 rs566886783 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893862 19893863 rs144471911 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19893882 19893883 rs181684820 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19893885 19893886 rs570513052 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19893920 19893921 rs796247804 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 736 chr21 19893921 19893922 rs117919091 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 736 chr21 19893945 19893946 rs745672607 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893970 19893971 rs150724660 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 736 chr21 19893981 19893982 rs775422311 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893995 19893996 rs746962829 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19893997 19893998 rs1740178 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.397813 0.201621 unknown exact 1 27 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,YUSUKE, 2 A,G, 1372.000000,3636.000000, 0.273962,0.726038, maf-5-some-pop,maf-5-all-pops 736 chr21 19894015 19894016 rs535706677 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894065 19894066 rs554362384 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19894104 19894105 rs572823535 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19894116 19894117 rs540328146 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19894129 19894130 rs776030767 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894169 19894170 rs564829077 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894226 19894227 rs761351044 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894247 19894248 rs576954803 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19894274 19894275 rs544514096 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894307 19894308 rs562799021 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19894308 19894309 rs543975072 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19894329 19894330 rs541625980 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894380 19894381 rs764870758 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894439 19894440 rs560314687 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894457 19894457 rs774339012 0 + - - -/AG genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894468 19894469 rs527736189 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894477 19894478 rs552259657 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19894483 19894484 rs570500810 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19894486 19894487 rs563781019 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19894487 19894488 rs536231099 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19894493 19894494 rs78508470 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4953.000000,55.000000, 0.989018,0.010982, 736 chr21 19894498 19894499 rs766793469 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894499 19894500 rs576386120 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19894516 19894517 rs760009243 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894604 19894605 rs768019138 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894630 19894631 rs536171191 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19894631 19894633 rs764001434 0 + AG AG -/AG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894645 19894646 rs538716163 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19894648 19894649 rs752751113 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894653 19894654 rs185467724 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19894694 19894695 rs756161100 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894700 19894701 rs777987053 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894740 19894741 rs34074024 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 ABI, 0 736 chr21 19894740 19894741 rs375811020 0 + T T C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 TISHKOFF, 0 736 chr21 19894743 19894744 rs754181408 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894805 19894806 rs369111969 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19894820 19894821 rs566273366 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894897 19894898 rs533862835 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19894902 19894903 rs559024822 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19894903 19894904 rs757523449 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19894988 19894989 rs558732561 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19894998 19894999 rs532298297 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19894999 19895000 rs544259740 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895000 19895001 rs556208859 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895020 19895021 rs574616708 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895022 19895022 rs531218368 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19895035 19895036 rs13050393 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSAHASNP, 0 736 chr21 19895038 19895039 rs17002685 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 unknown exact 1 9 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 98.000000,4910.000000, 0.019569,0.980431, maf-5-some-pop 736 chr21 19895041 19895042 rs139001739 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19895069 19895070 rs768504388 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895070 19895071 rs190216959 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895114 19895115 rs572241642 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19895150 19895151 rs545873227 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895164 19895165 rs564278697 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895179 19895180 rs149874355 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895249 19895250 rs180830270 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895277 19895278 rs568445726 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895284 19895285 rs747629224 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895292 19895293 rs529522247 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895296 19895300 rs541251899 0 + CATT CATT -/CATT genomic deletion by-cluster 0 0 unknown range 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895346 19895347 rs185823106 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19895364 19895365 rs769355425 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895396 19895399 rs71713349 0 + CAA CAA -/CAA genomic deletion by-cluster,by-frequency,by-1000genomes 0.027953 0.114869 unknown range 1 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,CAA, 71.000000,4937.000000, 0.014177,0.985823, maf-5-some-pop 736 chr21 19895410 19895411 rs566139520 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19895440 19895441 rs117599903 0 + C C C/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 1 1000GENOMES, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19895458 19895459 rs772707244 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895483 19895484 rs762754431 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19895493 19895494 rs762636023 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895525 19895526 rs79949375 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.044491 0.142359 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4894.000000,114.000000, 0.977236,0.022764, maf-5-some-pop 736 chr21 19895573 19895574 rs774601693 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895574 19895575 rs144962674 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19895632 19895633 rs759905958 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895639 19895640 rs2824901 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.161267 0.233723 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 443.000000,4565.000000, 0.088459,0.911542, maf-5-some-pop 736 chr21 19895661 19895662 rs76717968 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19895668 19895669 rs574383151 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895670 19895671 rs191120525 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895696 19895697 rs554080160 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895710 19895711 rs571896350 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19895753 19895754 rs543400578 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19895761 19895762 rs761258263 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895798 19895799 rs140892630 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895799 19895800 rs563963552 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19895802 19895803 rs576083509 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895811 19895812 rs80283917 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,GMI, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19895823 19895824 rs750173928 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895850 19895851 rs561927687 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19895889 19895890 rs764307461 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895890 19895890 rs563092399 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 736 chr21 19895910 19895911 rs529335765 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19895919 19895920 rs547751698 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19895935 19895936 rs753944065 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895982 19895983 rs757572460 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19895987 19895988 rs779232872 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19896017 19896019 rs869213245 0 + AT AT -/AT genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 736 chr21 19896028 19896029 rs560029204 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19896046 19896047 rs183646805 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19896097 19896098 rs189088381 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19896109 19896110 rs551974633 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19896121 19896122 rs570266073 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19896139 19896140 rs537898337 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19896158 19896159 rs549887444 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19896159 19896160 rs532144798 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19896169 19896170 rs140729338 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19896201 19896205 rs547575723 0 + TCTT TCTT -/TCTT genomic deletion by-frequency,by-1000genomes 0.007955 0.062565 unknown range 1 1 1000GENOMES, 2 -,TCTT, 20.000000,4988.000000, 0.003994,0.996006, 736 chr21 19896204 19896208 rs371162592 0 + TTCT TTCT -/TTCT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19896256 19896257 rs143798433 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 21.000000,4987.000000, 0.004193,0.995807, 736 chr21 19896284 19896285 rs571982378 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19896287 19896288 rs202093197 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 2 GMI,SSMP, 0 736 chr21 19896294 19896295 rs539354137 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19896313 19896314 rs557490265 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19896320 19896321 rs752289686 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19896357 19896358 rs374196101 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19896421 19896422 rs868290326 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19896466 19896467 rs190598727 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19896481 19896482 rs368644950 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19896509 19896510 rs562238496 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19896535 19896536 rs545698629 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19896567 19896568 rs541382289 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19896625 19896626 rs769689947 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19896643 19896644 rs376899360 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19896659 19896660 rs148162059 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19896666 19896667 rs183196140 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19896694 19896695 rs559562900 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19896722 19896723 rs563861728 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19896767 19896768 rs187075135 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19896800 19896801 rs549586237 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19896832 19896833 rs562692512 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19896837 19896838 rs777315393 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19896856 19896857 rs559424209 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19896867 19896868 rs770602711 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19896882 19896883 rs140950745 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19896911 19896912 rs527857873 0 + T T A/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19896928 19896929 rs759097148 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19896930 19896931 rs547324856 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19896942 19896943 rs547620078 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19896943 19896944 rs772553430 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19896958 19896959 rs565348052 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19896982 19896983 rs191883112 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19896984 19896985 rs372208321 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19897000 19897001 rs775685165 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897006 19897007 rs761311415 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897012 19897013 rs760221390 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19897016 19897017 rs557679584 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19897019 19897020 rs150191860 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19897027 19897028 rs764644622 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897039 19897040 rs531434684 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19897044 19897045 rs537287177 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19897050 19897051 rs139185697 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19897052 19897053 rs574052047 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19897066 19897067 rs7510221 0 + C C C/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 SC_JCM, 1 C, 420.000000, 1.000000, 736 chr21 19897075 19897076 rs765866054 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19897082 19897083 rs548007380 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19897142 19897143 rs184941085 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19897181 19897182 rs776878984 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897184 19897185 rs561617475 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19897190 19897191 rs761914295 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897191 19897192 rs765387468 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897199 19897200 rs750902227 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19897226 19897227 rs867347701 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19897258 19897258 rs201291054 0 + - - -/TACG genomic insertion by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 unknown between 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 -,TACG, 4949.000000,59.000000, 0.988219,0.011781, 736 chr21 19897267 19897268 rs375566573 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19897301 19897302 rs553361042 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19897336 19897337 rs578098750 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19897342 19897343 rs545711589 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19897608 19897609 rs76626049 0 + T T A/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19897617 19897618 rs750719428 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897623 19897624 rs758548393 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897665 19897666 rs758969145 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19897684 19897684 rs35791751 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19897703 19897704 rs563996766 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19897745 19897746 rs187502349 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19897794 19897795 rs145924470 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.084364 0.187256 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,TISHKOFF, 2 -,T, 221.000000,4787.000000, 0.044129,0.955871, maf-5-some-pop 736 chr21 19897821 19897822 rs543180581 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19897860 19897861 rs561329890 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19897905 19897906 rs143069364 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19897931 19897932 rs767389068 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19897935 19897936 rs78801886 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.129664 0.219133 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4659.000000,349.000000, 0.930312,0.069688, maf-5-some-pop 736 chr21 19897947 19897948 rs547217511 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19897976 19897977 rs565333649 0 + G G A/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898001 19898002 rs777648182 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898009 19898010 rs748801928 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898048 19898049 rs756817786 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898060 19898061 rs147194091 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19898163 19898164 rs2824902 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.168135 0.236216 unknown exact 1 20 1000GENOMES,AFFY,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4544.000000,464.000000, 0.907348,0.092652, maf-5-some-pop 736 chr21 19898202 19898203 rs570401047 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19898214 19898215 rs528406759 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSIP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19898228 19898229 rs536967281 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898229 19898230 rs781234540 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19898262 19898263 rs370210433 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 3 JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 0 736 chr21 19898272 19898273 rs555491304 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898290 19898291 rs567358120 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19898294 19898295 rs775942546 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898298 19898299 rs535106254 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19898322 19898323 rs76830069 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4943.000000,65.000000, 0.987021,0.012979, 736 chr21 19898335 19898336 rs376025165 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898382 19898383 rs138802466 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 4 1000GENOMES,EVA_DECODE,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 736 chr21 19898384 19898385 rs57413547 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.038372 0.133092 unknown exact 1 6 1000GENOMES,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 98.000000,4910.000000, 0.019569,0.980431, maf-5-some-pop 736 chr21 19898408 19898409 rs769287423 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898448 19898449 rs777216261 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898474 19898475 rs575849461 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898507 19898508 rs762400715 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898518 19898519 rs555216287 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19898557 19898558 rs577115720 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 -,A, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19898581 19898582 rs542963630 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898595 19898596 rs117849762 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898605 19898606 rs536597785 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898637 19898638 rs562656567 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 -,T, 25.000000,4983.000000, 0.004992,0.995008, 736 chr21 19898677 19898678 rs773136655 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898689 19898690 rs763286995 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898696 19898697 rs528727091 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19898715 19898716 rs540703007 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19898719 19898720 rs766464488 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898736 19898737 rs114873679 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 21.000000,4987.000000, 0.004193,0.995807, 736 chr21 19898753 19898754 rs79176921 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 unknown exact 1 9 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF, 2 A,C, 4940.000000,68.000000, 0.986422,0.013578, 736 chr21 19898794 19898795 rs142909052 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19898831 19898832 rs755840716 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898868 19898869 rs866032628 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19898872 19898873 rs569552356 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19898896 19898897 rs777696920 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19898900 19898901 rs372220479 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19898918 19898919 rs764032555 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19898919 19898920 rs144643822 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 736 chr21 19898927 19898928 rs148476259 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19898956 19898957 rs115550796 0 + G G A/G genomic single by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 1 1000GENOMES, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 736 chr21 19898963 19898964 rs192738779 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4979.000000,29.000000, 0.994209,0.005791, 736 chr21 19898986 19898987 rs185526225 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 29.000000,4979.000000, 0.005791,0.994209, 736 chr21 19899037 19899038 rs571732948 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899044 19899045 rs539141503 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899097 19899098 rs745313713 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899098 19899099 rs759218337 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19899103 19899104 rs557355192 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19899111 19899112 rs575592490 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19899139 19899140 rs9982362 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.085819 0.188533 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4783.000000,225.000000, 0.955072,0.044928, maf-5-some-pop 736 chr21 19899156 19899157 rs554991948 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899174 19899175 rs142530920 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19899184 19899185 rs150498645 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19899201 19899202 rs565158589 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899202 19899203 rs189519569 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19899216 19899217 rs544712765 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899236 19899237 rs563285882 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19899282 19899283 rs79976720 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 unknown exact 1 8 1000GENOMES,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 736 chr21 19899416 19899417 rs748709013 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899427 19899428 rs375519997 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19899444 19899445 rs192011707 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899457 19899458 rs184460870 0 + A A A/C genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 2 1000GENOMES,GMI, 2 A,C, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19899493 19899494 rs115740438 0 + C C C/T genomic single by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 1 1000GENOMES, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 736 chr21 19899495 19899496 rs546772539 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899496 19899497 rs773366415 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899521 19899522 rs554131555 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19899522 19899523 rs571477516 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899576 19899577 rs543313051 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899593 19899594 rs763605563 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19899606 19899607 rs139867264 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899722 19899723 rs75811659 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 736 chr21 19899730 19899731 rs569213234 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899731 19899732 rs774498390 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899739 19899740 rs759750045 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899792 19899793 rs536284387 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19899794 19899795 rs557238041 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19899800 19899801 rs1740179 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.373799 0.217195 unknown exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3762.000000,1246.000000, 0.751198,0.248802, maf-5-some-pop,maf-5-all-pops 736 chr21 19899809 19899810 rs573431001 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19899816 19899818 rs76105879 0 + AT AT -/AT genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 736 chr21 19899817 19899818 rs61375915 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.37778 0.214877 unknown exact 1 MixedObserved 3 1000GENOMES,GMI,SSMP, 2 -,T, 3742.000000,1266.000000, 0.747204,0.252796, maf-5-some-pop,maf-5-all-pops 736 chr21 19899817 19899819 rs780508679 0 + TT TT -/TT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899818 19899819 rs751389272 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19899833 19899834 rs33922126 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 2 ABI,HGSV, 0 736 chr21 19899901 19899902 rs534224674 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899902 19899903 rs545812278 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19899904 19899905 rs559010585 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19899938 19899939 rs544700404 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19899984 19899985 rs528214960 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900003 19900004 rs867172101 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19900004 19900005 rs563264185 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19900005 19900006 rs575158953 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19900049 19900050 rs748668029 0 + G G -/G genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900057 19900058 rs189000611 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19900061 19900062 rs561104341 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19900065 19900066 rs528356251 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19900066 19900067 rs374288449 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19900078 19900079 rs752846059 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19900079 19900080 rs749950416 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900081 19900082 rs374756944 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19900091 19900092 rs565072660 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19900133 19900134 rs530330051 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19900183 19900184 rs551038339 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900196 19900196 rs527381587 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 unknown between 1 1 1000GENOMES, 2 -,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19900203 19900204 rs143240078 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 MixedObserved 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4977.000000,31.000000, 0.993810,0.006190, 736 chr21 19900203 19900203 rs201565321 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 GMI, 0 736 chr21 19900210 19900211 rs536774744 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900225 19900226 rs201509382 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19900230 19900231 rs79696757 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19900231 19900232 rs570352661 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19900247 19900248 rs566534979 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900259 19900260 rs532386444 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900284 19900285 rs117791522 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 C,T, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19900311 19900312 rs558868538 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900360 19900361 rs570687319 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19900397 19900398 rs199515646 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19900447 19900448 rs146851734 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19900461 19900462 rs181183835 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900523 19900524 rs770366743 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900555 19900556 rs556731646 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19900576 19900577 rs368713282 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900619 19900620 rs542717938 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900628 19900629 rs778076720 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900631 19900632 rs367556663 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19900633 19900634 rs554260981 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19900648 19900649 rs749400064 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900697 19900698 rs572925379 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19900697 19900697 rs539658842 0 + - - -/T genomic insertion by-frequency,by-1000genomes 0.003588 0.042202 unknown between 1 MixedObserved 1 1000GENOMES, 2 -,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19900722 19900723 rs540513513 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900746 19900747 rs565213822 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19900774 19900775 rs373345429 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19900776 19900777 rs778677741 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19900798 19900799 rs770975176 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900858 19900860 rs753866428 0 + TG TG -/TG genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 MixedObserved 2 1000GENOMES,SSMP, 0 736 chr21 19900858 19900858 rs140565924 0 + - - -/TG/TGTGTG/TGTGTGTGTGTG genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 MixedObserved 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 rs-cluster-nonoverlapping-alleles 736 chr21 19900888 19900896 rs370531056 0 + CATATATA CATATATA -/CATATATA genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 736 chr21 19900888 19900888 rs761658336 0 + - - -/TGTGTA genomic insertion by-cluster 0 0 unknown between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19900890 19900891 rs112901740 0 + T T C/T genomic single by-cluster 0.5 0 unknown exact 1 3 BUSHMAN,GMI,MPI_MOLGEN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19900891 19900892 rs111699961 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19900895 19900896 rs112215469 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,MPI_MOLGEN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19900896 19900900 rs141460117 0 + TGTG TGTG -/TGTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown range 1 2 1000GENOMES,LUNTER, 2 -,TGTG, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19900907 19900908 rs113645630 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 9 1000GENOMES,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4875.000000,133.000000, 0.973442,0.026557, maf-5-some-pop 736 chr21 19900908 19900909 rs544050705 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19900933 19900934 rs186564996 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19900957 19900958 rs530097937 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19901009 19901014 rs771707169 0 + TTCTA TTCTA -/TTCTA genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19901013 19901014 rs548702581 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19901024 19901025 rs541586427 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19901033 19901034 rs566525117 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19901038 19901039 rs189006157 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901080 19901081 rs759803183 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19901081 19901082 rs140681310 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 5 1000GENOMES,EVA_DECODE,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 34.000000,4974.000000, 0.006789,0.993211, 736 chr21 19901086 19901087 rs570772717 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19901105 19901106 rs746716340 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19901162 19901163 rs538550067 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901174 19901175 rs556432874 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19901184 19901185 rs370467438 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19901236 19901237 rs866465845 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19901246 19901247 rs772231900 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19901248 19901249 rs568679608 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19901256 19901257 rs36061786 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 ABI, 0 736 chr21 19901284 19901285 rs535963913 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901288 19901289 rs554735450 0 + A A A/G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19901314 19901315 rs150029557 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901332 19901333 rs181053508 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19901363 19901364 rs750381909 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19901381 19901382 rs555111955 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19901387 19901388 rs558609655 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901397 19901398 rs577163744 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19901401 19901402 rs568228684 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19901452 19901453 rs114253476 0 + C C C/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 736 chr21 19901460 19901461 rs371685342 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 736 chr21 19901479 19901480 rs145431985 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901484 19901485 rs529946731 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19901547 19901548 rs541936463 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901580 19901581 rs537274388 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19901585 19901586 rs766030433 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19901599 19901600 rs560244846 0 + C C C/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19901600 19901601 rs149216395 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19901637 19901638 rs552122688 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19901638 19901639 rs75461615 0 + C C C/T genomic single by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 1 1000GENOMES, 2 C,T, 4975.000000,33.000000, 0.993411,0.006589, 736 chr21 19901651 19901652 rs374957661 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19901693 19901694 rs186427698 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19901748 19901749 rs79045183 0 + A A A/G genomic single by-frequency,by-1000genomes 0.049555 0.149404 unknown exact 1 1 1000GENOMES, 2 A,G, 115.000000,3.000000, 0.974576,0.025424, 736 chr21 19901775 19901776 rs550499260 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19901780 19901781 rs754702507 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19901781 19901782 rs376741135 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19901837 19901838 rs541009392 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19901846 19901847 rs568542460 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19901847 19901848 rs536083127 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19901871 19901872 rs548026401 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19901898 19901899 rs143243744 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19901907 19901908 rs191134920 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19901911 19901912 rs182967960 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19902020 19902022 rs761765478 0 + TG TG -/TG genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19902122 19902123 rs185952128 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19902128 19902129 rs537744887 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19902129 19902130 rs753111398 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19902141 19902142 rs556449587 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19902170 19902171 rs147865038 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19902200 19902200 rs534517827 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 HAMMER_LAB,SSIP, 0 736 chr21 19902291 19902294 rs372726617 0 + AAC AAC -/AAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 unknown range 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,AAC, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19902314 19902315 rs541970319 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19902400 19902401 rs756376175 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19902402 19902403 rs778187655 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19902417 19902418 rs75001046 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19902453 19902454 rs545475968 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19902475 19902476 rs2824903 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.085456 0.188216 unknown exact 1 13 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,WEILL_CORNELL_DGM, 2 A,T, 224.000000,4784.000000, 0.044728,0.955272, maf-5-some-pop,genotype-conflict 736 chr21 19902545 19902546 rs537770599 0 + A A C/T genomic single unknown 0 0 unknown exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 736 chr21 19902563 19902564 rs545899946 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19902610 19902611 rs564139115 0 + C C A/C genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19902613 19902614 rs778985594 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19902614 19902615 rs531762684 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19902631 19902632 rs141671917 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19902659 19902660 rs572509278 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19902663 19902664 rs562374957 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19902721 19902722 rs772283106 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19902766 19902767 rs117296358 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021333 0.101051 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 54.000000,4954.000000, 0.010783,0.989217, 736 chr21 19902769 19902770 rs561465888 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19902953 19902954 rs2824904 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.264906 0.249555 unknown exact 1 25 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 787.000000,4221.000000, 0.157149,0.842851, maf-5-some-pop,maf-5-all-pops 736 chr21 19902973 19902974 rs566287225 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19902989 19902990 rs866158553 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19903004 19903005 rs533862499 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19903006 19903007 rs773032640 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19903029 19903030 rs190713207 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19903064 19903065 rs552347789 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19903066 19903067 rs544025482 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903097 19903098 rs537880833 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19903103 19903104 rs115330797 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP, 2 G,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19903165 19903166 rs2824905 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.251014 0.249998 unknown exact 1 21 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4271.000000,737.000000, 0.852835,0.147165, maf-5-some-pop 736 chr21 19903167 19903168 rs372303316 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002793 0.037282 unknown exact 1 SingleClassTriAllelic 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SSMP, 3 A,C,G, 5001.000000,4.000000,3.000000, 0.998602,0.000799,0.000599, 736 chr21 19903213 19903214 rs548144267 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19903225 19903226 rs571957835 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903250 19903255 rs774274170 0 + ATAAC ATAAC -/ATAAC genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19903261 19903262 rs116138176 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 736 chr21 19903321 19903322 rs564640310 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19903330 19903331 rs576478456 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903393 19903394 rs569733322 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19903458 19903462 rs750167478 0 + AAAC AAAC -/AAAC genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19903461 19903462 rs543772267 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903499 19903500 rs561942484 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19903502 19903503 rs529551450 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903506 19903507 rs552905772 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19903537 19903538 rs147053432 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19903546 19903558 rs535073236 0 + GGCGGGTGTATC GGCGGGTGTATC -/GGCGGGTGTATC genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown range 1 2 1000GENOMES,EVA_DECODE, 2 -,GGCGGGTGTATC, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19903548 19903549 rs182815847 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19903554 19903555 rs112800030 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 unknown exact 1 4 1000GENOMES,BUSHMAN,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 109.000000,4899.000000, 0.021765,0.978235, maf-5-some-pop 736 chr21 19903568 19903569 rs533593833 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903574 19903575 rs188433167 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19903583 19903584 rs192319887 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19903616 19903617 rs570493211 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19903624 19903624 rs762734035 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19903635 19903636 rs767292816 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19903636 19903637 rs531325485 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19903640 19903641 rs549701436 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19903647 19903648 rs373648837 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19903659 19903660 rs141274573 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19903701 19903702 rs111598988 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 736 chr21 19903709 19903710 rs755787870 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19903732 19903733 rs553679850 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903733 19903734 rs1735754 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.083271 0.186283 unknown exact 1 7 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4790.000000,218.000000, 0.956470,0.043530, maf-5-some-pop 736 chr21 19903741 19903742 rs539215618 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903760 19903761 rs182970815 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 C,T, 4998.000000,10.000000, 0.998003,0.001997, 736 chr21 19903779 19903780 rs552105413 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.132409 0.220618 unknown exact 1 DuplicateObserved 1 1000GENOMES, 2 -,A, 357.000000,4651.000000, 0.071286,0.928714, maf-5-some-pop 736 chr21 19903779 19903779 rs796526482 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 HAMMER_LAB, 0 736 chr21 19903791 19903791 rs553173766 0 + - - -/AAAC genomic insertion unknown 0 0 unknown between 1 1 SSIP, 0 736 chr21 19903810 19903811 rs576436044 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19903867 19903868 rs566038030 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19903871 19903872 rs764414592 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19903903 19903904 rs568715925 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19903910 19903911 rs543563697 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19903911 19903912 rs62215980 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 10 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 66.000000,4942.000000, 0.013179,0.986821, 736 chr21 19903926 19903927 rs548674919 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19903958 19903959 rs149523895 0 + A A A/T genomic single by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 1 1000GENOMES, 2 A,T, 4975.000000,33.000000, 0.993411,0.006589, 736 chr21 19903966 19903967 rs187704330 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19904008 19904009 rs367821237 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19904009 19904010 rs560122082 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19904098 19904099 rs143883393 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19904104 19904105 rs371691715 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19904112 19904113 rs545552662 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19904120 19904121 rs113692041 0 + T T A/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,JMKIDD_LAB, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19904125 19904126 rs779323737 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19904190 19904191 rs563731076 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19904198 19904199 rs745956490 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19904206 19904207 rs531393172 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19904241 19904242 rs758528882 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19904288 19904289 rs192361216 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19904326 19904327 rs62215981 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 2 BCMHGSC_JDW,ENSEMBL, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19904339 19904340 rs780173861 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19904346 19904347 rs184783381 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19904350 19904351 rs528894000 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19904351 19904352 rs547007125 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19904400 19904401 rs139794802 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19904410 19904411 rs539352118 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19904447 19904448 rs76877248 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19904449 19904450 rs569792869 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19904455 19904455 rs565092061 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.000798 0.019964 unknown between 1 1 1000GENOMES, 2 -,A, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19904526 19904527 rs867064169 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19904549 19904550 rs141511272 0 + T T C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 736 chr21 19904550 19904551 rs146221219 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 39.000000,4969.000000, 0.007788,0.992212, 736 chr21 19904595 19904596 rs772907857 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19904601 19904602 rs75243569 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4946.000000,62.000000, 0.987620,0.012380, 736 chr21 19904622 19904623 rs188759276 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19904630 19904631 rs553425999 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19904632 19904633 rs369451493 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19904672 19904672 rs767737435 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 736 chr21 19904682 19904683 rs749054422 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19904726 19904727 rs372450684 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19904766 19904767 rs578237476 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19904786 19904787 rs545385781 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19904790 19904791 rs193163170 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19904817 19904818 rs77578319 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018202 0.093646 unknown exact 1 4 1000GENOMES,GMI,JMKIDD_LAB,SSMP, 2 C,T, 46.000000,4962.000000, 0.009185,0.990815, 736 chr21 19904901 19904902 rs77563334 0 + T T G/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 G,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19904923 19904924 rs543489937 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19904925 19904926 rs184705059 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19904971 19904972 rs139194857 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19904976 19904977 rs190031711 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19904990 19904991 rs116943463 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19904991 19904991 rs34738331 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19905017 19905018 rs142943404 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19905032 19905033 rs368839664 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 736 chr21 19905053 19905054 rs551435385 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905054 19905055 rs771000680 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905070 19905071 rs774374923 0 + C C A/C/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905105 19905106 rs180785048 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19905140 19905141 rs759534312 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905159 19905160 rs767204588 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905160 19905161 rs536881522 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905163 19905164 rs775042409 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905185 19905186 rs549174219 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905203 19905204 rs567732145 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905209 19905210 rs535125524 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19905224 19905225 rs79459289 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19905230 19905231 rs17772976 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 4946.000000,62.000000, 0.987620,0.012380, 736 chr21 19905237 19905238 rs76719389 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4968.000000,40.000000, 0.992013,0.007987, 736 chr21 19905264 19905265 rs568006815 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19905273 19905274 rs768452165 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19905282 19905283 rs575910365 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905292 19905293 rs542826446 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19905322 19905323 rs754156347 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905326 19905327 rs374036928 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19905332 19905333 rs375757699 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 3 1000GENOMES,HAMMER_LAB,TISHKOFF, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19905372 19905372 rs36044748 0 + - - -/C genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19905397 19905398 rs116721675 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19905439 19905440 rs757557315 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905476 19905477 rs540770732 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19905493 19905494 rs572474975 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905514 19905515 rs532819544 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905554 19905555 rs2103494 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.007955 0.062565 unknown exact 1 7 1000GENOMES,ABI,AFFY,EVA_SVP,JMKIDD_LAB,KRIBB_YJKIM,TSC-CSHL, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 736 chr21 19905560 19905561 rs750991981 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905571 19905572 rs758867393 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905594 19905595 rs780050613 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905636 19905637 rs147881694 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19905648 19905649 rs141580513 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19905687 19905688 rs555025789 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19905691 19905692 rs567478194 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905754 19905755 rs781411972 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19905757 19905758 rs147030686 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,C, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19905772 19905773 rs772770123 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19905780 19905781 rs547161018 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19905828 19905829 rs530437699 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19905849 19905850 rs538623431 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19905875 19905876 rs550216931 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19905888 19905889 rs760023644 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19905890 19905891 rs575801826 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905917 19905918 rs185436165 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19905946 19905947 rs554736039 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19905979 19905980 rs573150044 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19906024 19906025 rs540705037 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19906028 19906029 rs559054532 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19906059 19906060 rs577680561 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19906074 19906075 rs543651231 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19906083 19906084 rs147706034 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19906096 19906097 rs188337222 0 + A A A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19906100 19906101 rs570237501 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19906113 19906114 rs376149883 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19906151 19906152 rs770909085 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 736 chr21 19906172 19906173 rs181828441 0 + T T A/T genomic single by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19906175 19906176 rs745842269 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19906215 19906219 rs775620735 0 + AAGT AAGT -/AAGT genomic deletion by-cluster 0 0 unknown range 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19906218 19906222 rs368081583 0 + TAAG TAAG -/TAAG genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19906282 19906283 rs561059065 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19906305 19906306 rs528321414 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19906332 19906333 rs186443463 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19906333 19906334 rs760163511 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19906344 19906345 rs571623401 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19906379 19906380 rs577373425 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19906474 19906475 rs532642374 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19906500 19906501 rs550659826 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19906556 19906557 rs569277910 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19906562 19906563 rs536544268 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19906569 19906574 rs764325084 0 + TTAAT TTAAT -/TTAAT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19906663 19906664 rs541967722 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19906686 19906687 rs149162774 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 736 chr21 19906727 19906728 rs117213583 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19906743 19906744 rs776400974 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19906779 19906783 rs751668102 0 + ATAG ATAG -/ATAG genomic deletion by-cluster 0 0 unknown range 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19906809 19906810 rs560111723 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 MixedObserved 1 EVA-GONL, 0 736 chr21 19906809 19906821 rs767084790 0 + TTTTTTTCTTTT TTTTTTTCTTTT -/TTTTTTTCTTTT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19906816 19906817 rs201308390 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19906823 19906824 rs558746231 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19906828 19906829 rs80036653 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19906829 19906830 rs75074850 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19907014 19907015 rs207477762 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 736 chr21 19907023 19907024 rs577616533 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19907041 19907042 rs761448339 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907045 19907046 rs113206662 0 + T T C/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,TISHKOFF, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19907055 19907056 rs143552312 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 1 1000GENOMES, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19907124 19907125 rs369308219 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19907152 19907153 rs575242678 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19907183 19907184 rs765626679 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907232 19907233 rs113395681 0 + G G G/T genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,TISHKOFF, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19907264 19907265 rs542921029 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19907282 19907283 rs148026539 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19907296 19907297 rs757364284 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19907315 19907316 rs750759948 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907316 19907317 rs765301636 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19907329 19907330 rs555134937 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19907399 19907400 rs372737895 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19907424 19907424 rs528473132 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA-GONL,EVA_GENOME_DK, 0 736 chr21 19907473 19907473 rs202029280 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 unknown between 1 2 1000GENOMES,TISHKOFF, 2 -,T, 4973.000000,35.000000, 0.993011,0.006989, 736 chr21 19907503 19907504 rs200598569 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19907512 19907513 rs77466777 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,BGI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19907519 19907520 rs144915780 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19907531 19907532 rs2824906 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.135825 0.222405 unknown exact 1 15 1000GENOMES,AFFY,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 C,T, 367.000000,4641.000000, 0.073283,0.926717, maf-5-some-pop 736 chr21 19907568 19907569 rs562034788 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19907574 19907575 rs531082883 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19907584 19907585 rs766873968 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907610 19907619 rs756730688 0 + ATTAGGACA ATTAGGACA -/ATTAGGACA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907632 19907633 rs138745464 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907656 19907657 rs191549337 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 23.000000,4985.000000, 0.004593,0.995407, 736 chr21 19907667 19907668 rs569138485 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19907670 19907671 rs141577444 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19907746 19907747 rs548194733 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19907767 19907768 rs570587516 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19907772 19907773 rs566793094 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19907777 19907777 rs35244158 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19907783 19907784 rs368781337 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19907792 19907793 rs62215982 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 6 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19907805 19907806 rs538814377 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 G,T, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19907830 19907831 rs778872806 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907853 19907854 rs370655262 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19907883 19907884 rs926178 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.203882 0.245709 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 577.000000,4431.000000, 0.115216,0.884784, maf-5-some-pop,genotype-conflict 736 chr21 19907890 19907891 rs566461798 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19907892 19907894 rs550766952 0 + AG AG -/AG genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 unknown range 1 1 1000GENOMES, 2 -,AG, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19907927 19907929 rs370319830 0 + TA TA -/TA genomic deletion unknown 0 0 unknown range 1 MixedObserved 1 LUNTER, 0 736 chr21 19907927 19907928 rs538351678 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19907958 19907959 rs557047050 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19908038 19908039 rs754759891 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19908065 19908066 rs558919676 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19908075 19908076 rs575113759 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19908105 19908106 rs536227859 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19908113 19908114 rs533273215 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19908165 19908166 rs146179780 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 3 1000GENOMES,HAMMER_LAB,JMKIDD_LAB, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19908175 19908176 rs573134632 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19908179 19908180 rs367730611 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19908191 19908192 rs376290064 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19908231 19908232 rs564931142 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19908268 19908269 rs139099227 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 MixedObserved 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19908268 19908271 rs386816769 0 + GCG GCG ACC/GCG genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19908270 19908271 rs149472210 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19908299 19908300 rs780994325 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19908300 19908301 rs74941455 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01624 0.088635 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4967.000000,41.000000, 0.991813,0.008187, 736 chr21 19908307 19908308 rs530153890 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19908312 19908313 rs548130056 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19908329 19908330 rs183854617 0 + A A A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19908363 19908364 rs568652495 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19908373 19908374 rs554990523 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908382 19908383 rs761498060 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908472 19908473 rs370998394 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19908480 19908481 rs144350753 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 33.000000,4975.000000, 0.006589,0.993411, 736 chr21 19908489 19908490 rs375689390 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19908499 19908500 rs527966815 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19908507 19908508 rs142395563 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19908531 19908534 rs200416447 0 + CCA CCA -/CCA genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 736 chr21 19908532 19908534 rs66470103 0 + CA CA -/CA genomic deletion by-cluster,by-frequency,by-1000genomes 0.27278 0.24896 unknown range 1 MixedObserved 8 1000GENOMES,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,CA, 816.000000,4192.000000, 0.162939,0.837061, maf-5-some-pop,maf-5-all-pops 736 chr21 19908532 19908535 rs386816770 0 + CAC CAC CAC/T genomic in-del by-cluster 0 0 unknown rangeDeletion 1 MixedObserved,FlankMismatchGenomeShorter 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19908534 19908535 rs62215983 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.27278 0.24896 unknown exact 1 7 1000GENOMES,BCMHGSC_JDW,BL,EVA_GENOME_DK,GMI,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4192.000000,816.000000, 0.837061,0.162939, maf-5-some-pop,maf-5-all-pops 736 chr21 19908594 19908595 rs375480794 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.069301 0.172766 unknown exact 1 2 1000GENOMES,LUNTER, 2 -,T, 180.000000,4828.000000, 0.035942,0.964058, maf-5-some-pop 736 chr21 19908602 19908603 rs756877256 0 + T T A/T genomic single unknown 0 0 unknown exact 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908615 19908616 rs538466024 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19908716 19908717 rs550122433 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19908743 19908744 rs147964543 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19908754 19908755 rs752167219 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908760 19908761 rs750734329 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908762 19908763 rs575134102 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19908771 19908772 rs759958224 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908772 19908773 rs867769362 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19908782 19908783 rs536364288 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19908824 19908825 rs140187957 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19908844 19908845 rs767675530 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908852 19908853 rs527905296 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19908881 19908882 rs752803656 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19908956 19908958 rs781109392 0 + CT CT -/CT genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19908970 19908971 rs186274157 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 736 chr21 19908977 19908978 rs557582293 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 736 chr21 19908986 19908987 rs113237731 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 57.000000,4951.000000, 0.011382,0.988618, 736 chr21 19908987 19908988 rs191570973 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19909027 19909028 rs182582028 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19909113 19909114 rs571019335 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19909222 19909223 rs115210137 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4942.000000,66.000000, 0.986821,0.013179, 736 chr21 19909229 19909230 rs367548084 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19909230 19909231 rs1740180 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.286825 0.247273 unknown exact 1 18 1000GENOMES,BL,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4139.000000,869.000000, 0.826478,0.173522, maf-5-some-pop,maf-5-all-pops 736 chr21 19909236 19909237 rs754847035 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 736 chr21 19909278 19909279 rs796410772 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 736 chr21 19909282 19909283 rs562543418 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19909297 19909298 rs145387966 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 1 1000GENOMES, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19909303 19909304 rs186563460 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19909306 19909307 rs191296182 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19909309 19909310 rs147654917 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 736 chr21 19909310 19909311 rs552578418 0 + T T G/T genomic single by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 1 1000GENOMES, 2 G,T, 14.000000,4994.000000, 0.002796,0.997204, 736 chr21 19909314 19909315 rs564767178 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19909323 19909324 rs142035339 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.202035 0.245356 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,LUNTER,SSMP, 2 -,A, 571.000000,4437.000000, 0.114018,0.885982, maf-5-some-pop 736 chr21 19909353 19909354 rs531915839 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19909383 19909384 rs566342555 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,SSIP, 2 G,T, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19909431 19909432 rs747620500 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19909434 19909435 rs568711673 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19909461 19909462 rs1740181 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.068931 0.172377 unknown exact 1 6 1000GENOMES,ABI,HAMMER_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 179.000000,4829.000000, 0.035743,0.964257, maf-5-some-pop 736 chr21 19909512 19909513 rs765658691 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19909596 19909597 rs569758585 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19909620 19909621 rs141001555 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 37.000000,4971.000000, 0.007388,0.992612, 736 chr21 19909621 19909622 rs566462957 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19909631 19909632 rs772797314 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19909707 19909708 rs748882468 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19909727 19909728 rs535539379 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19909728 19909729 rs562070765 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19909747 19909748 rs760139360 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19909812 19909813 rs570677429 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19909825 19909826 rs537758778 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19909933 19909934 rs200942370 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 1 ILLUMINA, 0 736 chr21 19909934 19909935 rs555927952 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 37.000000,4971.000000, 0.007388,0.992612, 736 chr21 19909934 19909934 rs778214136 0 + - - -/TTTT genomic insertion unknown 0 0 unknown between 1 1 SSMP, 0 736 chr21 19909949 19909950 rs75866303 0 + T T G/T genomic single unknown 0 0 unknown exact 1 SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 736 chr21 19909951 19909952 rs867204411 0 + G G G/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 736 chr21 19909951 19909951 rs3991104 0 + - - -/TT genomic insertion unknown 0 0 unknown between 1 MixedObserved 2 ABI,TSC-CSHL, 0 736 chr21 19909953 19909954 rs530822184 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19909964 19909965 rs750499924 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19909972 19909973 rs149789194 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19909975 19909976 rs145753512 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19909992 19909993 rs149092351 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 MixedObserved 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, 736 chr21 19909992 19909995 rs386816771 0 + GCG GCG ACA/GCG genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 736 chr21 19909994 19909995 rs1740182 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.271162 0.249103 unknown exact 1 22 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 810.000000,4198.000000, 0.161741,0.838259, maf-5-some-pop,maf-5-all-pops 736 chr21 19910014 19910015 rs532943253 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19910033 19910034 rs766430127 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19910041 19910042 rs760779304 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19910046 19910047 rs764256045 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19910049 19910050 rs77232540 0 + A A A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19910063 19910064 rs564333134 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19910071 19910072 rs183098463 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19910096 19910097 rs747485938 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19910098 19910099 rs546427075 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19910100 19910101 rs10432903 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.201418 0.245234 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 569.000000,4439.000000, 0.113618,0.886382, maf-5-some-pop 736 chr21 19910102 19910103 rs562246005 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19910109 19910110 rs529547935 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19910130 19910131 rs548028650 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19910172 19910174 rs145705055 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,AA, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19910179 19910180 rs566546699 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19910187 19910188 rs549014929 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19910211 19910212 rs377051573 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19910227 19910228 rs552108811 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19910273 19910274 rs138779868 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19910304 19910305 rs557940546 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19910309 19910310 rs867653616 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19910376 19910377 rs187913851 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19910452 19910453 rs1615268 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.289683 0.24683 unknown exact 1 23 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 880.000000,4128.000000, 0.175719,0.824281, maf-5-some-pop,maf-5-all-pops 736 chr21 19910464 19910465 rs192895658 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19910485 19910486 rs185396975 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19910486 19910487 rs553571067 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19910489 19910490 rs781043250 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19910493 19910494 rs534560355 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 -,A, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19910523 19910524 rs113782782 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19910525 19910526 rs9978255 0 + A A A/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 A, 408.000000, 1.000000, 736 chr21 19910552 19910553 rs546023230 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19910644 19910645 rs748773835 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19910679 19910680 rs372294996 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 4992.000000,16.000000, 0.996805,0.003195, 736 chr21 19910703 19910704 rs111434641 0 + A A A/G genomic single by-cluster 0.5 0 unknown exact 1 2 BUSHMAN,TISHKOFF, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19910795 19910796 rs755683141 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19910844 19910845 rs576386710 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19910847 19910848 rs781180602 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19910863 19910865 rs758769819 0 + AT AT -/AT genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 736 chr21 19910870 19910871 rs145247462 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19910910 19910911 rs557642909 0 + A A -/A genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 -,A, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19910917 19910918 rs780544524 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19910925 19910926 rs562337528 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19910955 19910956 rs535052896 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19910970 19910971 rs541593936 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19910971 19910972 rs559995676 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19910992 19910993 rs747582011 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19910993 19910994 rs147974257 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 4994.000000,14.000000, 0.997204,0.002796, 736 chr21 19911032 19911033 rs868594322 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19911076 19911077 rs376740573 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19911083 19911084 rs749010138 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19911138 19911139 rs117465582 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 42.000000,4966.000000, 0.008387,0.991613, 736 chr21 19911163 19911164 rs141691931 0 + C C C/T genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 1 1000GENOMES, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19911187 19911188 rs774803099 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19911206 19911207 rs531242540 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19911259 19911260 rs746151786 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19911349 19911350 rs187907527 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19911350 19911351 rs368895108 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 736 chr21 19911396 19911397 rs12053716 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.201418 0.245234 unknown exact 1 14 1000GENOMES,BL,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4439.000000,569.000000, 0.886382,0.113618, maf-5-some-pop 736 chr21 19911413 19911414 rs373341186 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19911423 19911424 rs535364357 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19911454 19911455 rs192840918 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19911510 19911511 rs773423733 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19911523 19911524 rs773290235 0 + C C C/G genomic single unknown 0 0 unknown exact 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19911591 19911592 rs9981292 0 + C C C/T genomic single by-hapmap 0 0 unknown exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 C, 400.000000, 1.000000, 736 chr21 19911619 19911620 rs141833913 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19911644 19911645 rs764305471 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19911652 19911653 rs542501766 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19911660 19911661 rs376609041 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19911676 19911677 rs555803067 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19911724 19911725 rs150545850 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19911732 19911733 rs766629506 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19911745 19911746 rs565785559 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19911760 19911761 rs539900153 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19911767 19911768 rs201962210 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 3 1000GENOMES,EVA_DECODE,GMI, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19911774 19911775 rs576499455 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19911799 19911800 rs537417180 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19911804 19911805 rs555803750 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19911860 19911861 rs537072280 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 -,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19911919 19911920 rs138431521 0 + A A A/G genomic single by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 1 1000GENOMES, 2 A,G, 4984.000000,24.000000, 0.995208,0.004792, 736 chr21 19911920 19911921 rs1740183 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.306182 0.243605 unknown exact 1 18 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4063.000000,945.000000, 0.811302,0.188698, maf-5-some-pop,maf-5-all-pops 736 chr21 19911927 19911928 rs112536762 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19911956 19911957 rs578128407 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19911957 19911958 rs114007681 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19911997 19911998 rs544312156 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19912011 19912012 rs563991155 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19912019 19912020 rs531455426 0 + A A A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,T, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19912155 19912157 rs556712288 0 + AA AA -/AA genomic deletion by-frequency,by-1000genomes 0.006766 0.057769 unknown range 1 1 1000GENOMES, 2 -,AA, 17.000000,4991.000000, 0.003395,0.996605, 736 chr21 19912204 19912208 rs564592973 0 + TTTC TTTC -/TTTC genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 736 chr21 19912226 19912227 rs549318312 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19912251 19912252 rs751377808 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19912337 19912338 rs533294917 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19912339 19912340 rs117621867 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 736 chr21 19912344 19912345 rs147508208 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19912346 19912347 rs1740184 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.303187 0.244277 unknown exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4075.000000,933.000000, 0.813698,0.186302, maf-5-some-pop,maf-5-all-pops 736 chr21 19912369 19912370 rs752701194 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19912382 19912383 rs1740185 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.306679 0.24349 unknown exact 1 19 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4061.000000,947.000000, 0.810903,0.189097, maf-5-some-pop,maf-5-all-pops 736 chr21 19912397 19912398 rs539226571 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19912425 19912426 rs376214255 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19912430 19912431 rs570007303 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19912444 19912445 rs549231301 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19912449 19912450 rs554939627 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19912461 19912465 rs753466750 0 + AAGT AAGT -/AAGT genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19912479 19912480 rs569085494 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19912514 19912515 rs184251730 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19912529 19912530 rs756899619 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19912566 19912567 rs371202708 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19912575 19912576 rs574127857 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19912633 19912634 rs535311542 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19912650 19912651 rs753239758 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19912675 19912676 rs796636213 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 MixedObserved 2 PADH-LAB_SPU,WEILL_CORNELL_DGM, 0 736 chr21 19912675 19912681 rs796915673 0 + ACCCAA ACCCAA ACCCAA/TGATTCCTAC genomic in-del unknown 0 0 unknown rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 736 chr21 19912675 19912675 rs201974539 0 + - - -/T/TG/TGAT/TGATT/TGATTCCT genomic insertion by-cluster,by-frequency,by-1000genomes 0.305436 0.243776 unknown between 1 MixedObserved,InconsistentAlleles 8 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSIP,SSMP, 2 -,TG, 4066.000000,942.000000, 0.811901,0.188099, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 736 chr21 19912676 19912676 rs67808586 0 + - - -/GATT/TT genomic insertion by-cluster,by-frequency,by-1000genomes 0.305436 0.243776 unknown between 1 InconsistentAlleles 2 1000GENOMES,EVA_GENOME_DK, 2 -,TT, 4066.000000,942.000000, 0.811901,0.188099, maf-5-some-pop,maf-5-all-pops 736 chr21 19912678 19912679 rs56224178 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.305436 0.243776 unknown exact 1 5 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA_GENOME_DK,HGSV, 2 C,T, 4066.000000,942.000000, 0.811901,0.188099, maf-5-some-pop,maf-5-all-pops 736 chr21 19912680 19912681 rs56387642 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.305436 0.243776 unknown exact 1 6 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA_GENOME_DK,HGSV,WEILL_CORNELL_DGM, 2 A,C, 4066.000000,942.000000, 0.811901,0.188099, maf-5-some-pop,maf-5-all-pops 736 chr21 19912697 19912698 rs1740186 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.305685 0.24372 unknown exact 1 22 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4065.000000,943.000000, 0.811701,0.188299, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19912698 19912699 rs563910279 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19912717 19912718 rs575691376 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19912736 19912737 rs778370985 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19912755 19912756 rs376142059 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19912860 19912861 rs140202220 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,G, 24.000000,4984.000000, 0.004792,0.995208, 736 chr21 19912981 19912982 rs745520870 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913022 19913023 rs745360928 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19913049 19913050 rs772630651 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913050 19913051 rs780530770 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913102 19913103 rs12053671 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.20111 0.245173 unknown exact 1 16 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 568.000000,4440.000000, 0.113419,0.886581, maf-5-some-pop 736 chr21 19913126 19913127 rs78424471 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 5 1000GENOMES,EVA_DECODE,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 38.000000,4970.000000, 0.007588,0.992412, 736 chr21 19913140 19913141 rs547385815 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19913156 19913157 rs769234417 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913230 19913231 rs574842915 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 736 chr21 19913262 19913263 rs776801072 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913272 19913273 rs144241984 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 24.000000,4984.000000, 0.004792,0.995208, 736 chr21 19913300 19913301 rs761735863 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913322 19913323 rs117092734 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 42.000000,4966.000000, 0.008387,0.991613, 736 chr21 19913342 19913343 rs773368088 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913360 19913361 rs533827448 0 + C C C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 EVA-GONL, 0 736 chr21 19913360 19913363 rs559938576 0 + CTT CTT -/CTT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 unknown range 1 MixedObserved 1 1000GENOMES, 2 -,CTT, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19913386 19913387 rs148726269 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19913391 19913392 rs763160378 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913443 19913444 rs1740187 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.306182 0.243605 unknown exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 945.000000,4063.000000, 0.188698,0.811302, maf-5-some-pop,maf-5-all-pops 736 chr21 19913464 19913465 rs549523433 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19913525 19913526 rs181049907 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19913527 19913528 rs565999397 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19913529 19913530 rs1740188 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.306182 0.243605 unknown exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,G, 945.000000,4063.000000, 0.188698,0.811302, maf-5-some-pop,maf-5-all-pops 736 chr21 19913537 19913538 rs775266549 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913558 19913559 rs1735755 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.306182 0.243605 unknown exact 1 19 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 C,T, 945.000000,4063.000000, 0.188698,0.811302, maf-5-some-pop,maf-5-all-pops 736 chr21 19913574 19913575 rs577808105 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19913575 19913576 rs1740189 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.303187 0.244277 unknown exact 1 18 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,G, 933.000000,4075.000000, 0.186302,0.813698, maf-5-some-pop,maf-5-all-pops 736 chr21 19913586 19913587 rs756772392 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913600 19913601 rs778481855 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913620 19913621 rs368165189 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19913740 19913741 rs1735756 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.306182 0.243605 unknown exact 1 17 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 G,T, 945.000000,4063.000000, 0.188698,0.811302, maf-5-some-pop,maf-5-all-pops 736 chr21 19913761 19913762 rs543839621 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19913762 19913763 rs375770088 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19913776 19913776 rs544588919 0 + - - -/T genomic insertion by-cluster 0 0 unknown between 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913779 19913780 rs575461501 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19913795 19913796 rs543099475 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19913813 19913814 rs758097809 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913859 19913860 rs555011358 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19913877 19913881 rs753241628 0 + ACTT ACTT -/ACTT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913929 19913930 rs1735757 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.306431 0.243548 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 946.000000,4062.000000, 0.188898,0.811102, maf-5-some-pop,maf-5-all-pops 736 chr21 19913952 19913953 rs540624834 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19913979 19913980 rs747335490 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19913980 19913981 rs184910926 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19914013 19914014 rs533070499 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19914015 19914016 rs190757671 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19914056 19914056 rs757880044 0 + - - -/CAGTATATC genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 736 chr21 19914058 19914058 rs780612145 0 + - - -/TTCAGCTTCCCATCCTTTCCTC genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 736 chr21 19914063 19914064 rs769737732 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 736 chr21 19914138 19914139 rs563448443 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19914198 19914199 rs574002343 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19914275 19914276 rs769287731 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19914295 19914296 rs767381282 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19914300 19914301 rs181685347 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19914313 19914314 rs549213386 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19914382 19914383 rs567734147 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19914384 19914385 rs748678677 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19914392 19914393 rs62215986 0 + C C A/C genomic single unknown 0 0 unknown exact 1 MixedObserved 2 BCMHGSC_JDW,BL, 0 736 chr21 19914392 19914393 rs201274264 0 + C C -/C genomic deletion by-1000genomes 0 0 unknown exact 1 MixedObserved 1 1000GENOMES, 0 736 chr21 19914479 19914480 rs372394125 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19914481 19914482 rs186838172 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19914498 19914499 rs546636675 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19914515 19914516 rs769836009 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19914527 19914528 rs191679878 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19914566 19914567 rs538942809 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19914587 19914588 rs557670444 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19914605 19914606 rs76594175 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 1 GMI, 0 736 chr21 19914615 19914616 rs569226407 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19914689 19914690 rs111631636 0 + A A A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19914692 19914693 rs536421494 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19914705 19914706 rs866759231 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19914723 19914724 rs62215987 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.201727 0.245295 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 570.000000,4438.000000, 0.113818,0.886182, maf-5-some-pop 736 chr21 19914726 19914727 rs142259644 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19914799 19914800 rs62215988 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.199873 0.244923 unknown exact 1 14 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 564.000000,4444.000000, 0.112620,0.887380, maf-5-some-pop 736 chr21 19914844 19914845 rs760397988 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19914858 19914859 rs552694249 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19914860 19914861 rs763934896 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19914862 19914863 rs151285833 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19914879 19914880 rs112456469 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,G, 4985.000000,23.000000, 0.995407,0.004593, 736 chr21 19914919 19914920 rs563538495 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19914934 19914937 rs573486376 0 + TTA TTA -/TTA genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 1 1000GENOMES, 2 -,TTA, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19914958 19914959 rs181041806 0 + C C C/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,G, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19914975 19914976 rs542796375 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19914980 19914981 rs185514938 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19915060 19915061 rs776497320 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915064 19915065 rs545131533 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19915085 19915086 rs1630582 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.277067 0.24853 unknown exact 1 16 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,C, 832.000000,4176.000000, 0.166134,0.833866, maf-5-some-pop,genotype-conflict 736 chr21 19915100 19915101 rs868654334 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19915106 19915107 rs547100830 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19915117 19915118 rs189674506 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19915166 19915167 rs753617710 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19915176 19915177 rs182350157 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19915179 19915180 rs374965478 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19915181 19915182 rs113483517 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19915219 19915220 rs533377662 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19915223 19915224 rs569163516 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19915254 19915255 rs562793168 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19915265 19915266 rs372084145 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19915286 19915287 rs549984811 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19915297 19915298 rs375560285 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19915298 19915299 rs112325407 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025622 0.110247 unknown exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4943.000000,65.000000, 0.987021,0.012979, 736 chr21 19915311 19915312 rs749898934 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915382 19915383 rs557460980 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19915396 19915397 rs188685398 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19915430 19915431 rs553063471 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19915458 19915459 rs577428987 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 736 chr21 19915494 19915495 rs207477763 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 736 chr21 19915497 19915498 rs758152842 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915538 19915539 rs766059175 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915585 19915586 rs764828305 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19915646 19915647 rs577679070 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19915657 19915658 rs751988328 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915662 19915663 rs73327834 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 unknown exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,WEILL_CORNELL_DGM, 2 A,T, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 736 chr21 19915682 19915683 rs749958732 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19915767 19915768 rs556997763 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19915771 19915772 rs73200341 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.139564 0.224285 unknown exact 1 12 1000GENOMES,BGI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 378.000000,4630.000000, 0.075479,0.924521, maf-5-some-pop 736 chr21 19915790 19915791 rs62215989 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.201727 0.245295 unknown exact 1 15 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 570.000000,4438.000000, 0.113818,0.886182, maf-5-some-pop 736 chr21 19915795 19915796 rs113941245 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 736 chr21 19915813 19915814 rs573028299 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19915815 19915816 rs540071092 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19915816 19915817 rs777738247 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915833 19915834 rs565354279 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19915850 19915851 rs749328379 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915852 19915853 rs771148421 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19915887 19915888 rs8133729 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.237303 0.249677 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 689.000000,4319.000000, 0.137580,0.862420, maf-5-some-pop 736 chr21 19915888 19915889 rs116321717 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4982.000000,26.000000, 0.994808,0.005192, 736 chr21 19915913 19915914 rs562585037 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19915944 19915944 rs11369976 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.213635 0.247341 unknown between 1 7 1000GENOMES,BILGI_BIOE,BUSHMAN,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 -,T, 609.000000,4399.000000, 0.121605,0.878395, maf-5-some-pop,maf-5-all-pops 736 chr21 19915945 19915945 rs869155830 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 DEVINE_LAB, 0 736 chr21 19915951 19915951 rs11449138 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 736 chr21 19915956 19915957 rs369191656 0 + C C C/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 736 chr21 19915956 19915956 rs56020678 0 + - - -/C/T genomic insertion by-cluster,by-1000genomes 0 0 unknown between 1 MixedObserved 3 1000GENOMES,GMI,HGSV, 0 736 chr21 19915967 19915968 rs530327143 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19915982 19915982 rs567401938 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 EVA-GONL, 0 736 chr21 19915987 19915988 rs146712253 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19916008 19916009 rs140429975 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19916048 19916049 rs534365940 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19916069 19916070 rs746084951 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916154 19916155 rs552517123 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19916190 19916191 rs571272725 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19916239 19916240 rs145525083 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 736 chr21 19916273 19916274 rs756563918 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19916298 19916299 rs192441492 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19916299 19916300 rs776464561 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916304 19916305 rs761674652 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916333 19916334 rs183933335 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19916353 19916354 rs571330151 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19916472 19916473 rs778244936 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19916474 19916475 rs536535267 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19916488 19916489 rs554870248 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19916532 19916533 rs545960801 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19916533 19916534 rs765177657 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916647 19916648 rs188538849 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19916664 19916665 rs564943286 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19916665 19916666 rs577260730 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19916693 19916694 rs544348558 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19916705 19916706 rs562524045 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19916726 19916727 rs762492609 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916739 19916740 rs765976349 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916741 19916742 rs149041238 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19916789 19916790 rs541834697 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19916849 19916850 rs560808250 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 G,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19916859 19916860 rs527979270 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19916872 19916873 rs767825084 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916916 19916917 rs537213626 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 0 736 chr21 19916943 19916944 rs756611139 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19916998 19916999 rs778186788 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19917017 19917018 rs867226677 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19917037 19917038 rs371457571 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19917057 19917058 rs552697380 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19917073 19917074 rs1735758 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.309894 0.242719 unknown exact 1 25 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 960.000000,4048.000000, 0.191693,0.808307, maf-5-some-pop,maf-5-all-pops 736 chr21 19917080 19917081 rs573938590 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19917082 19917083 rs532242075 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19917102 19917103 rs757393284 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19917123 19917124 rs549355587 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19917154 19917155 rs143027099 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19917192 19917193 rs538115103 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19917204 19917205 rs192157776 0 + T T A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19917206 19917207 rs112742134 0 + C C C/T genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 736 chr21 19917231 19917232 rs148231446 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19917233 19917234 rs536599519 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19917295 19917295 rs558045978 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown between 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,A, 4983.000000,25.000000, 0.995008,0.004992, 736 chr21 19917300 19917301 rs55719430 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.217851 0.247924 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 623.000000,4385.000000, 0.124401,0.875599, maf-5-some-pop 736 chr21 19917312 19917313 rs776317618 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19917323 19917324 rs183999562 0 + T T G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19917344 19917345 rs187342162 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19917400 19917401 rs142731041 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 A,G, 4987.000000,21.000000, 0.995807,0.004193, 736 chr21 19917468 19917469 rs369748990 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 736 chr21 19917492 19917493 rs769630707 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19917501 19917502 rs191347923 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19917539 19917540 rs576993806 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19917547 19917548 rs559309105 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSIP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19917567 19917568 rs147515578 0 + A A A/C genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19917574 19917575 rs574611467 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19917607 19917608 rs377397844 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19917619 19917620 rs541773225 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19917632 19917633 rs183927182 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19917639 19917640 rs79763307 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19917641 19917642 rs527976241 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19917646 19917647 rs143974665 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 736 chr21 19917679 19917680 rs150699358 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19917699 19917700 rs531907140 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19917705 19917706 rs550419940 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19917711 19917712 rs4818421 0 + T T A/C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.136905 0.223139 unknown exact 1 SingleClassTriAllelic 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 3 A,C,T, 2.000000,368.000000,4638.000000, 0.000399,0.073482,0.926118, maf-5-some-pop,maf-5-all-pops 736 chr21 19917716 19917717 rs1735759 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.093057 0.194599 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 245.000000,4763.000000, 0.048922,0.951078, maf-5-some-pop 736 chr21 19917816 19917817 rs17002691 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,PERLEGEN,SSMP, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 736 chr21 19917848 19917849 rs189245752 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19917865 19917866 rs182275259 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19917913 19917914 rs542803781 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19917917 19917918 rs570427017 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19917979 19917980 rs537619521 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19918017 19918018 rs764883068 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19918018 19918019 rs555942164 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19918032 19918033 rs759133983 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19918067 19918068 rs149782578 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19918068 19918069 rs111807202 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, 736 chr21 19918078 19918079 rs757981556 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19918106 19918107 rs576198272 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19918130 19918131 rs572376230 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19918155 19918156 rs185570075 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19918173 19918174 rs190084490 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19918218 19918219 rs576812179 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19918227 19918228 rs370331154 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 736 chr21 19918229 19918230 rs543993693 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19918327 19918328 rs753010490 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19918378 19918379 rs75772068 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032598 0.123435 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 4925.000000,83.000000, 0.983427,0.016573, 736 chr21 19918411 19918412 rs181680318 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19918455 19918456 rs185453274 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19918456 19918457 rs560081779 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19918509 19918510 rs527262321 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19918569 19918570 rs780340010 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19918603 19918604 rs552170033 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19918606 19918607 rs751007844 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19918627 19918628 rs570363544 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19918644 19918645 rs764435729 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19918655 19918656 rs118028645 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 736 chr21 19918672 19918673 rs549554717 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19918673 19918674 rs756680818 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19918682 19918683 rs567960009 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19918689 19918690 rs754382073 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19918725 19918726 rs76970616 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.110519 0.207473 unknown exact 1 8 1000GENOMES,BGI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP, 2 G,T, 294.000000,4714.000000, 0.058706,0.941294, maf-5-some-pop 736 chr21 19918764 19918765 rs554007444 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19918771 19918772 rs544944021 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19918782 19918783 rs190212925 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19918797 19918798 rs539404860 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19918838 19918839 rs113783964 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4996.000000,12.000000, 0.997604,0.002396, 736 chr21 19918860 19918861 rs375102468 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19918874 19918875 rs866032096 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19918894 19918895 rs750472328 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19918922 19918923 rs758550277 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19918961 19918962 rs114016940 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 736 chr21 19918963 19918964 rs118109966 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 736 chr21 19918966 19918967 rs562247936 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19918973 19918974 rs574189545 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19918994 19918995 rs368480465 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19919028 19919029 rs868403752 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19919061 19919062 rs146730662 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19919062 19919063 rs769781577 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919073 19919074 rs777682426 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919115 19919116 rs1735760 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.293807 0.246132 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 896.000000,4112.000000, 0.178914,0.821086, maf-5-some-pop,maf-5-all-pops 736 chr21 19919126 19919127 rs139342018 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19919134 19919135 rs551844689 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 736 chr21 19919139 19919139 rs535768900 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown between 1 4 1000GENOMES,EVA_DECODE,SSIP,SSMP, 2 -,A, 4969.000000,39.000000, 0.992212,0.007788, 736 chr21 19919140 19919140 rs370409859 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 LUNTER, 0 736 chr21 19919184 19919185 rs770947620 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919240 19919241 rs144085737 0 + T T G/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 G,T, 13.000000,4995.000000, 0.002596,0.997404, 736 chr21 19919246 19919247 rs113637119 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4955.000000,53.000000, 0.989417,0.010583, 736 chr21 19919265 19919266 rs560958967 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19919267 19919268 rs759020918 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919306 19919307 rs374762808 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 736 chr21 19919372 19919373 rs180783052 0 + A A A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19919403 19919404 rs151023166 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19919404 19919405 rs140879278 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19919413 19919414 rs2824907 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.307423 0.243316 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 950.000000,4058.000000, 0.189696,0.810304, maf-5-some-pop 736 chr21 19919420 19919420 rs550935896 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown between 1 2 1000GENOMES,EVA_DECODE, 2 -,A, 5000.000000,8.000000, 0.998403,0.001597, 736 chr21 19919440 19919441 rs775272117 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919452 19919453 rs1740190 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.354665 0.227036 unknown exact 1 22 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3854.000000,1154.000000, 0.769569,0.230431, maf-5-some-pop,maf-5-all-pops,genotype-conflict 736 chr21 19919461 19919462 rs150090903 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19919481 19919482 rs796481072 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 PADH-LAB_SPU, 0 736 chr21 19919584 19919585 rs116417505 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 736 chr21 19919614 19919615 rs776492861 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19919638 19919667 rs561165183 0 + AGCAGACAGAAGCTCTAACCCCACAGGAA AGCAGACAGAAGCTCTAACCCCACAGGAA lengthTooLong genomic in-del by-frequency,by-1000genomes 0.001197 0.024439 unknown range 1 ObservedTooLong 1 1000GENOMES, 2 -,AGCAGACAGAAGCTCTAACCCCACAGGAA, 3.000000,5005.000000, 0.000599,0.999401, 736 chr21 19919665 19919665 rs34080890 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 736 chr21 19919712 19919713 rs145437098 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19919733 19919734 rs73895637 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19919736 19919737 rs867729906 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19919755 19919756 rs754153014 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919775 19919776 rs112247556 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 736 chr21 19919785 19919786 rs762338541 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919855 19919856 rs115780075 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 736 chr21 19919880 19919881 rs556063690 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19919892 19919893 rs750479654 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919910 19919911 rs758561092 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19919977 19919978 rs574300535 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19919986 19919987 rs541216049 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19920002 19920003 rs553537884 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19920012 19920013 rs146965842 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19920019 19920020 rs185936031 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19920021 19920022 rs190856572 0 + C C C/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19920024 19920024 rs143737913 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown between 1 2 1000GENOMES,LUNTER, 2 -,C, 5005.000000,3.000000, 0.999401,0.000599, 736 chr21 19920027 19920028 rs183861207 0 + G G A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19920033 19920034 rs1735761 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.100588 0.200439 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4742.000000,266.000000, 0.946885,0.053115, maf-5-some-pop 736 chr21 19920036 19920037 rs543029878 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19920050 19920051 rs751850766 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19920072 19920073 rs561621474 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19920093 19920094 rs755232867 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19920098 19920099 rs371365643 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19920134 19920135 rs777737415 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19920138 19920139 rs529198113 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19920270 19920271 rs538453853 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19920272 19920273 rs768325322 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19920279 19920280 rs137987033 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 736 chr21 19920290 19920291 rs188805133 0 + T T C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19920304 19920305 rs201132443 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 736 chr21 19920347 19920348 rs144043161 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19920418 19920419 rs75333737 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.318415 0.240457 unknown exact 1 3 1000GENOMES,EVA_GENOME_DK,GMI, 2 -,T, 995.000000,4013.000000, 0.198682,0.801318, maf-5-some-pop,maf-5-all-pops 736 chr21 19920430 19920432 rs869144411 0 + TT TT -/TT genomic deletion unknown 0 0 unknown range 1 1 BCMHGSC_JDW, 0 736 chr21 19920432 19920432 rs200777841 0 + - - -/T genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 736 chr21 19920460 19920461 rs551941635 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19920480 19920481 rs190631671 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19920493 19920494 rs537411088 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19920504 19920505 rs762713893 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19920523 19920524 rs778853922 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 736 chr21 19920538 19920539 rs555804036 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19920568 19920569 rs571642876 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19920672 19920673 rs567824815 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19920718 19920719 rs535371069 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19920726 19920727 rs533924113 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19920756 19920757 rs148378950 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19920784 19920785 rs77457518 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 4981.000000,27.000000, 0.994609,0.005391, 736 chr21 19920848 19920849 rs73200348 0 + T T A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19920858 19920859 rs141550087 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19920873 19920874 rs765912017 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19920906 19920907 rs771650463 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19920932 19920933 rs113070716 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19920937 19920939 rs141839340 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,AA, 55.000000,4953.000000, 0.010982,0.989018, 736 chr21 19920977 19920978 rs369391691 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19921037 19921040 rs751108235 0 + ATC ATC -/ATC genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 736 chr21 19921063 19921064 rs187113627 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 736 chr21 19921067 19921071 rs573982203 0 + AAAC AAAC -/AAAC genomic deletion by-cluster 0 0 unknown range 1 5 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 0 736 chr21 19921079 19921080 rs540407909 0 + A A -/A genomic deletion by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 -,A, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19921083 19921086 rs757258214 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19921149 19921150 rs191672486 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19921154 19921155 rs536310829 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19921164 19921165 rs561763264 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19921169 19921170 rs74384422 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 unknown exact 1 4 1000GENOMES,EVA_DECODE,SSMP,WEILL_CORNELL_DGM, 2 A,T, 39.000000,4969.000000, 0.007788,0.992212, 736 chr21 19921195 19921196 rs1740191 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.339882 0.233284 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3921.000000,1087.000000, 0.782947,0.217053, maf-5-some-pop,maf-5-all-pops 736 chr21 19921220 19921221 rs866478872 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19921222 19921223 rs866753982 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19921247 19921248 rs868420813 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 736 chr21 19921252 19921253 rs183094699 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 736 chr21 19921271 19921272 rs768257364 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19921281 19921282 rs533124506 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 736 chr21 19921364 19921365 rs752906011 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 DDI, 0 736 chr21 19921370 19921371 rs187692322 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 736 chr21 19921415 19921416 rs150830858 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19921426 19921427 rs531038546 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19921474 19921475 rs776980171 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19921488 19921489 rs549391861 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19921494 19921495 rs139480435 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 1 1000GENOMES, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 736 chr21 19921513 19921514 rs576130496 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19921515 19921516 rs534987226 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19921550 19921551 rs765569623 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19921574 19921575 rs758688196 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19921597 19921598 rs1740192 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.096652 0.197444 unknown exact 1 10 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 255.000000,4753.000000, 0.050919,0.949081, maf-5-some-pop 736 chr21 19921598 19921599 rs369749338 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19921616 19921617 rs192364426 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 736 chr21 19921625 19921626 rs185655055 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19921636 19921637 rs780100632 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19921652 19921653 rs1735762 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.308908 0.242961 unknown exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 956.000000,4052.000000, 0.190895,0.809105, maf-5-some-pop,maf-5-all-pops 736 chr21 19921671 19921672 rs77640954 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 unknown exact 1 11 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 57.000000,4951.000000, 0.011382,0.988618, 736 chr21 19921693 19921694 rs751548208 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19921771 19921772 rs536797197 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19921796 19921797 rs755286258 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19921817 19921823 rs778706519 0 + ATTTTC ATTTTC -/ATTTTC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19921827 19921828 rs142748531 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19921963 19921964 rs781243678 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 736 chr21 19921986 19921987 rs190567018 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 736 chr21 19922040 19922041 rs574948424 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 736 chr21 19922062 19922063 rs540683635 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19922091 19922092 rs368717817 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19922094 19922095 rs113873602 0 + T T G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 MixedObserved 2 1000GENOMES,BUSHMAN, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 736 chr21 19922094 19922097 rs386816772 0 + TTC TTC GTT/TTC genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 736 chr21 19922096 19922097 rs1735763 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.300673 0.244811 unknown exact 1 29 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 923.000000,4085.000000, 0.184305,0.815695, maf-5-some-pop 736 chr21 19922108 19922109 rs191995325 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 736 chr21 19922138 19922139 rs114683321 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 3 1000GENOMES,ILLUMINA,TISHKOFF, 2 G,T, 32.000000,4976.000000, 0.006390,0.993610, 736 chr21 19922144 19922145 rs184458178 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19922148 19922149 rs541334196 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19922164 19922165 rs753701292 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19922199 19922200 rs531026023 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19922200 19922201 rs146100001 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 4995.000000,13.000000, 0.997404,0.002596, 736 chr21 19922224 19922225 rs561112173 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 736 chr21 19922236 19922239 rs144283682 0 + TTG TTG -/TTG genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,SSMP, 0 736 chr21 19922250 19922253 rs375862942 0 + GTT GTT -/GTT genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 736 chr21 19922282 19922283 rs188998718 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 736 chr21 19922393 19922394 rs778571155 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19922420 19922421 rs529708503 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 736 chr21 19922498 19922499 rs546700106 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19922572 19922573 rs571562148 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19922580 19922581 rs538987067 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19922612 19922613 rs745866151 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19922615 19922616 rs758218772 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19922617 19922618 rs550759165 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 736 chr21 19922641 19922642 rs181088123 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19922654 19922655 rs75497129 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.016632 0.089664 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 42.000000,4966.000000, 0.008387,0.991613, 736 chr21 19922720 19922721 rs186350197 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19922757 19922758 rs573674878 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19922765 19922766 rs1740193 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.095216 0.196321 unknown exact 1 10 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 251.000000,4757.000000, 0.050120,0.949880, maf-5-some-pop 736 chr21 19922771 19922772 rs149942536 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19922789 19922790 rs577993789 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 736 chr21 19922830 19922831 rs376280829 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 736 chr21 19922901 19922902 rs775356467 0 + T T -/T genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19922911 19922912 rs545370567 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 736 chr21 19922918 19922919 rs768306568 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 736 chr21 19922943 19922944 rs563452774 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19922947 19922948 rs1735764 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.100231 0.200173 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4743.000000,265.000000, 0.947085,0.052915, maf-5-some-pop 737 chr21 19922985 19922986 rs114434788 0 + G G A/G genomic single by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 1 1000GENOMES, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 737 chr21 19922997 19922998 rs561406251 0 + T T C/T genomic single by-frequency,by-1000genomes 0.0008 0.01998 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,4998.000000, 0.000400,0.999600, 737 chr21 19922998 19923001 rs553967427 0 + ACA ACA -/ACA genomic deletion by-frequency,by-1000genomes 0.003191 0.039816 unknown range 1 1 1000GENOMES, 2 -,ACA, 8.000000,4998.000000, 0.001598,0.998402, 737 chr21 19923042 19923043 rs528580920 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19923102 19923103 rs546932478 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19923128 19923129 rs564985024 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19923185 19923186 rs185937301 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,MPI_MOLGEN, 0 737 chr21 19923191 19923192 rs189287870 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19923201 19923202 rs550896154 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19923224 19923225 rs551600919 0 + G G C/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19923226 19923227 rs199573044 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop 737 chr21 19923233 19923234 rs527933086 0 + C C C/G/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19923235 19923236 rs536825295 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19923264 19923265 rs548498541 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19923266 19923267 rs112981805 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.21845 0.248001 unknown exact 1 7 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4383.000000,625.000000, 0.875200,0.124800, maf-5-some-pop 737 chr21 19923275 19923276 rs142200248 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 4947.000000,61.000000, 0.987819,0.012180, maf-5-some-pop 737 chr21 19923296 19923297 rs370775712 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.198634 0.244666 unknown exact 1 MixedObserved 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,G, 560.000000,4448.000000, 0.111821,0.888179, maf-5-some-pop 737 chr21 19923296 19923299 rs386816773 0 + GCA GCA ACT/GCA genomic mnp unknown 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 737 chr21 19923298 19923299 rs374463413 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.198634 0.244666 unknown exact 1 4 1000GENOMES,PADH-LAB_SPU,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4448.000000,560.000000, 0.888179,0.111821, maf-5-some-pop 737 chr21 19923308 19923309 rs200768055 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 GMI, 0 737 chr21 19923323 19923324 rs538921455 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19923332 19923333 rs111788539 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.219648 0.248151 unknown exact 1 6 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4379.000000,629.000000, 0.874401,0.125599, maf-5-some-pop 737 chr21 19923334 19923335 rs575632752 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19923338 19923339 rs536675511 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 EVA-GONL,EVA_DECODE, 0 737 chr21 19923373 19923374 rs868490054 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19923394 19923395 rs187287615 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19923402 19923403 rs767206632 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19923407 19923407 rs200277182 0 + - - -/A genomic insertion by-1000genomes 0 0 unknown between 1 1 1000GENOMES, 0 737 chr21 19923414 19923415 rs2776085 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.264906 0.249555 unknown exact 1 MixedObserved 10 1000GENOMES,ABI,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,T, 787.000000,4221.000000, 0.157149,0.842851, maf-5-some-pop,maf-5-all-pops 737 chr21 19923414 19923415 rs201321013 0 + T T -/T genomic deletion by-1000genomes 0 0 unknown exact 1 MixedObserved 1 1000GENOMES, 0 737 chr21 19923418 19923419 rs573284984 0 + T T A/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 unknown exact 1 1 1000GENOMES, 2 A,T, 25.000000,4983.000000, 0.004992,0.995008, 737 chr21 19923419 19923420 rs540400154 0 + A A A/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 unknown exact 1 1 1000GENOMES, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 737 chr21 19923422 19923423 rs200114898 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 737 chr21 19923423 19923424 rs577056117 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.073 0.176553 unknown exact 1 2 1000GENOMES,HAMMER_LAB, 2 -,A, 190.000000,4818.000000, 0.037939,0.962061, maf-5-some-pop 737 chr21 19923425 19923426 rs200888996 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 737 chr21 19923426 19923426 rs142910449 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.206642 0.246211 unknown between 1 7 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,T, 4422.000000,586.000000, 0.882987,0.117013, maf-5-some-pop 737 chr21 19923436 19923437 rs74968328 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.20111 0.245173 unknown exact 1 12 1000GENOMES,BL,COMPLETE_GENOMICS,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4440.000000,568.000000, 0.886581,0.113419, maf-5-some-pop 737 chr21 19923441 19923442 rs558736625 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19923519 19923520 rs544219125 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19923543 19923544 rs562794162 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19923556 19923557 rs530334652 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19923580 19923581 rs752243511 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19923714 19923715 rs1740194 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.295599 0.245806 unknown exact 1 25 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 903.000000,4105.000000, 0.180312,0.819688, maf-5-some-pop,maf-5-all-pops 737 chr21 19923741 19923742 rs191180298 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19923750 19923751 rs765809012 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19923752 19923753 rs528171397 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19923754 19923755 rs141153959 0 + C C A/C genomic single by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 1 1000GENOMES, 2 A,C, 28.000000,4980.000000, 0.005591,0.994409, 737 chr21 19923755 19923756 rs111798682 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 4972.000000,36.000000, 0.992812,0.007188, 737 chr21 19923770 19923771 rs73200352 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.200492 0.245049 unknown exact 1 14 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4442.000000,566.000000, 0.886981,0.113019, maf-5-some-pop 737 chr21 19923779 19923780 rs8134481 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.010329 0.07112 unknown exact 1 2 1000GENOMES,WI_SSAHASNP, 2 A,C, 4982.000000,26.000000, 0.994808,0.005192, 737 chr21 19923796 19923797 rs375281584 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19923799 19923800 rs374195258 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 737 chr21 19923804 19923805 rs866424673 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19923828 19923829 rs569093193 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19923834 19923835 rs113212126 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 4 1000GENOMES,BUSHMAN,ILLUMINA,JMKIDD_LAB, 2 A,G, 4977.000000,31.000000, 0.993810,0.006190, 737 chr21 19923838 19923839 rs369650456 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19923840 19923841 rs765099896 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19923906 19923907 rs62215991 0 + T T C/T genomic single unknown 0.5 0 unknown exact 1 4 BCMHGSC_JDW,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19923979 19923980 rs572987786 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19923982 19923983 rs528380044 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19924010 19924011 rs996702 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.311369 0.242351 unknown exact 1 23 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 966.000000,4042.000000, 0.192891,0.807109, maf-5-some-pop,maf-5-all-pops 737 chr21 19924011 19924012 rs142020031 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19924013 19924014 rs80065801 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 737 chr21 19924015 19924016 rs562580891 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19924029 19924030 rs116646609 0 + A A A/G genomic single by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 1 1000GENOMES, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 737 chr21 19924034 19924035 rs542190223 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19924048 19924049 rs185995896 0 + T T C/G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19924106 19924107 rs150245819 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19924136 19924137 rs746935711 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19924163 19924164 rs138876374 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19924164 19924165 rs117899360 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.030278 0.119257 unknown exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 77.000000,4931.000000, 0.015375,0.984625, maf-5-some-pop 737 chr21 19924173 19924174 rs532254550 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19924207 19924208 rs62215992 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.207253 0.246318 unknown exact 1 17 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4420.000000,588.000000, 0.882588,0.117412, maf-5-some-pop 737 chr21 19924218 19924219 rs776248840 0 + A A -/A genomic deletion by-cluster 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19924224 19924225 rs747849067 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19924278 19924279 rs996703 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.296619 0.245615 unknown exact 1 22 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4101.000000,907.000000, 0.818890,0.181110, maf-5-some-pop 737 chr21 19924329 19924330 rs536532358 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19924336 19924337 rs778232424 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19924342 19924343 rs76276306 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 737 chr21 19924373 19924374 rs111906362 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 5 1000GENOMES,BUSHMAN,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 A,G, 4971.000000,37.000000, 0.992612,0.007388, 737 chr21 19924389 19924390 rs190650339 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19924424 19924425 rs149435538 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19924432 19924433 rs748192904 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19924435 19924436 rs183111901 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19924450 19924451 rs796282548 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 ILLUMINA, 0 737 chr21 19924465 19924466 rs537994410 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19924466 19924467 rs188142764 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19924475 19924476 rs771486860 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19924478 19924479 rs775059783 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19924534 19924535 rs138467196 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19924558 19924559 rs114978955 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,G, 32.000000,4976.000000, 0.006390,0.993610, 737 chr21 19924562 19924563 rs369106046 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 737 chr21 19924576 19924577 rs560597187 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19924582 19924583 rs572702779 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19924590 19924591 rs777519652 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19924600 19924602 rs200955166 0 + AC AC -/AC genomic deletion by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown range 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,AC, 38.000000,4970.000000, 0.007588,0.992412, 737 chr21 19924601 19924602 rs192711514 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19924602 19924604 rs112578473 0 + AA AA -/AA genomic deletion by-cluster,by-1000genomes 0.5 0 unknown range 1 3 1000GENOMES,BUSHMAN,HAMMER_LAB, 2 -,AA, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19924603 19924604 rs200179833 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 4 1000GENOMES,EVA_DECODE,ILLUMINA,WEILL_CORNELL_DGM, 2 A,T, 4970.000000,38.000000, 0.992412,0.007588, 737 chr21 19924604 19924606 rs761751677 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 737 chr21 19924635 19924636 rs760985276 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19924815 19924816 rs537529790 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19924887 19924888 rs2205483 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.279461 0.248258 unknown exact 1 18 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 4167.000000,841.000000, 0.832069,0.167931, maf-5-some-pop,maf-5-all-pops 737 chr21 19924895 19924896 rs1630912 0 + C C C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.448836 0.15154 unknown exact 1 21 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 3305.000000,1703.000000, 0.659944,0.340056, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19924905 19924906 rs79618870 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 7 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4970.000000,38.000000, 0.992412,0.007588, 737 chr21 19924979 19924980 rs775182464 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19924991 19924992 rs112130222 0 + G G A/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19925038 19925039 rs529628080 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19925057 19925058 rs182675945 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19925090 19925091 rs1740196 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.092696 0.194308 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4764.000000,244.000000, 0.951278,0.048722, maf-5-some-pop 737 chr21 19925111 19925112 rs760223399 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19925114 19925115 rs766191373 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19925168 19925169 rs533872202 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925169 19925170 rs187699886 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19925173 19925174 rs142812626 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925183 19925184 rs537936270 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925223 19925224 rs1740197 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.295343 0.245854 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 902.000000,4106.000000, 0.180112,0.819888, maf-5-some-pop,maf-5-all-pops 737 chr21 19925229 19925230 rs192359185 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19925275 19925276 rs535436886 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19925358 19925359 rs754889658 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19925361 19925362 rs207477764 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 737 chr21 19925398 19925399 rs146058335 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925454 19925455 rs9975040 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.081446 0.184634 unknown exact 1 MixedObserved 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4795.000000,213.000000, 0.957468,0.042532, maf-5-some-pop 737 chr21 19925454 19925457 rs386816774 0 + CGC CGC CGC/TGT genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 737 chr21 19925455 19925456 rs368949081 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 737 chr21 19925456 19925457 rs9975041 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.099159 0.199366 unknown exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4746.000000,262.000000, 0.947684,0.052316, maf-5-some-pop 737 chr21 19925469 19925470 rs564654316 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925490 19925491 rs576676118 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19925491 19925492 rs544050500 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19925533 19925534 rs562396472 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925574 19925575 rs35396695 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 ABI, 0 737 chr21 19925595 19925596 rs529802879 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925599 19925600 rs773525071 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19925600 19925601 rs565264810 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19925673 19925674 rs755796114 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19925698 19925699 rs1740198 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.093057 0.194599 unknown exact 1 9 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 245.000000,4763.000000, 0.048922,0.951078, maf-5-some-pop 737 chr21 19925724 19925725 rs140083640 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925769 19925770 rs141444661 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19925770 19925771 rs567980847 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19925773 19925774 rs552090061 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19925778 19925779 rs530029456 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19925797 19925798 rs184768283 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 unknown exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 737 chr21 19925811 19925812 rs207477765 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 LIMM_YCR_PGG, 0 clinically-assoc,has-omim-omia,submitted-by-lsdb 737 chr21 19925825 19925826 rs150568753 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 737 chr21 19925842 19925843 rs188745001 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19925857 19925858 rs35696004 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.398354 0.201224 unknown exact 1 MixedObserved 12 1000GENOMES,BGI,BILGI_BIOE,BL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,A, 3633.000000,1375.000000, 0.725439,0.274561, maf-5-some-pop,maf-5-all-pops 737 chr21 19925857 19925858 rs200433513 0 + A A A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 GMI, 0 737 chr21 19925864 19925865 rs151128233 0 + A A A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 BL, 0 737 chr21 19925864 19925865 rs397866636 0 + A A -/A genomic deletion unknown 0 0 unknown exact 1 MixedObserved 2 ABI,HGSV, 0 737 chr21 19925865 19925866 rs145704944 0 + T T A/T genomic single unknown 0 0 unknown exact 1 1 BL, 0 737 chr21 19925870 19925873 rs561422829 0 + AAC AAC -/AAC genomic deletion by-frequency,by-1000genomes 0.002792 0.037256 unknown range 1 1 1000GENOMES, 2 -,AAC, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19925887 19925888 rs568422567 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19925906 19925907 rs11088681 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.473818 0.111381 unknown exact 1 24 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1931.000000,3077.000000, 0.385583,0.614417, maf-5-some-pop,maf-5-all-pops 737 chr21 19925918 19925919 rs553877382 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19925921 19925922 rs56301520 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.365024 0.221967 unknown exact 1 20 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3805.000000,1203.000000, 0.759784,0.240216, maf-5-some-pop,maf-5-all-pops 737 chr21 19925926 19925927 rs772665008 0 + C C C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926051 19926052 rs192917426 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19926053 19926054 rs184844065 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926083 19926084 rs374756595 0 + T T C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926087 19926088 rs9975670 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.147321 0.227941 unknown exact 1 19 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4607.000000,401.000000, 0.919928,0.080072, maf-5-some-pop 737 chr21 19926108 19926110 rs775713101 0 + TA TA -/TA genomic deletion unknown 0 0 unknown range 1 1 SSMP, 0 737 chr21 19926126 19926127 rs189711769 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926130 19926131 rs11088682 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49928 0.018956 unknown exact 1 23 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2409.000000,2599.000000, 0.481030,0.518970, maf-5-some-pop,maf-5-all-pops 737 chr21 19926131 19926132 rs374605994 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19926156 19926157 rs554551529 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19926158 19926159 rs559704067 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926159 19926160 rs776784069 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926166 19926167 rs180840386 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19926168 19926169 rs574716909 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19926171 19926172 rs185827826 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926186 19926187 rs1735766 0 + T T C/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.32863 0.237932 unknown exact 1 SingleClassTriAllelic 31 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 C,G,T, 3.000000,3971.000000,1034.000000, 0.000599,0.792931,0.206470, maf-5-some-pop,maf-5-all-pops 737 chr21 19926201 19926202 rs556868936 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19926211 19926212 rs576441184 0 + T T G/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926235 19926243 rs766758831 0 + AGCTAATA AGCTAATA -/AGCTAATA genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926238 19926239 rs529348689 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926269 19926270 rs771884056 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19926287 19926288 rs541719790 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,C, 14.000000,4994.000000, 0.002796,0.997204, 737 chr21 19926337 19926338 rs75852524 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 45.000000,4963.000000, 0.008986,0.991014, maf-5-some-pop 737 chr21 19926339 19926340 rs755641413 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926373 19926374 rs188381035 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19926374 19926375 rs114661089 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 unknown exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 55.000000,4953.000000, 0.010982,0.989018, 737 chr21 19926376 19926377 rs367724526 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 737 chr21 19926383 19926384 rs768115855 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19926385 19926386 rs570352080 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19926394 19926395 rs776191623 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19926396 19926397 rs7278560 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.49934 0.018159 unknown exact 1 20 1000GENOMES,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2595.000000,2413.000000, 0.518171,0.481829, maf-5-some-pop,maf-5-all-pops 737 chr21 19926398 19926399 rs139586585 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19926431 19926433 rs541648074 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 1 EVA-GONL, 0 737 chr21 19926492 19926493 rs983475 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.498832 0.024133 unknown exact 1 26 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,C, 2625.000000,2383.000000, 0.524161,0.475839, maf-5-some-pop 737 chr21 19926505 19926506 rs541283022 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926515 19926516 rs553425855 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926544 19926545 rs756914334 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926547 19926548 rs571813073 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19926557 19926558 rs545355465 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19926567 19926568 rs563780558 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19926605 19926606 rs181773908 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19926688 19926689 rs186466857 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19926702 19926703 rs76891240 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4988.000000,20.000000, 0.996006,0.003994, 737 chr21 19926722 19926723 rs779450072 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926736 19926737 rs529055859 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19926760 19926761 rs983476 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.375797 0.216044 unknown exact 1 29 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3752.000000,1256.000000, 0.749201,0.250799, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19926761 19926762 rs559843821 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19926782 19926783 rs780759708 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926786 19926787 rs149712890 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19926822 19926823 rs983477 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.375797 0.216044 unknown exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3752.000000,1256.000000, 0.749201,0.250799, maf-5-some-pop,maf-5-all-pops 737 chr21 19926823 19926824 rs147442818 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19926857 19926858 rs563638019 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19926882 19926883 rs768657501 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926883 19926884 rs568104590 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19926917 19926918 rs537327168 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 737 chr21 19926920 19926921 rs776748311 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19926984 19926985 rs9979042 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.139903 0.224452 unknown exact 1 16 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 4629.000000,379.000000, 0.924321,0.075679, maf-5-some-pop 737 chr21 19926996 19926997 rs9981557 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.375996 0.215928 unknown exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3751.000000,1257.000000, 0.749002,0.250998, maf-5-some-pop,maf-5-all-pops 737 chr21 19927003 19927004 rs566212023 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19927044 19927044 rs368816030 0 + - - -/AAC genomic insertion unknown 0 0 unknown between 1 1 LUNTER, 0 737 chr21 19927049 19927050 rs114390329 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034911 0.127424 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4919.000000,89.000000, 0.982228,0.017772, maf-5-some-pop 737 chr21 19927061 19927062 rs866425138 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19927105 19927106 rs553162290 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19927128 19927129 rs571798936 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927173 19927174 rs867058848 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19927181 19927182 rs34175901 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.263809 0.249618 unknown exact 1 20 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4225.000000,783.000000, 0.843650,0.156350, maf-5-some-pop 737 chr21 19927209 19927210 rs557310022 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927251 19927252 rs559268184 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19927254 19927255 rs759269715 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19927274 19927275 rs767290231 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19927279 19927280 rs775360295 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19927315 19927316 rs576023304 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927333 19927334 rs190602752 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927342 19927343 rs561969271 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927343 19927344 rs9984053 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.376592 0.215579 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3748.000000,1260.000000, 0.748403,0.251597, maf-5-some-pop,maf-5-all-pops 737 chr21 19927365 19927366 rs369183034 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19927368 19927369 rs1740199 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.06036 0.1629 unknown exact 1 7 1000GENOMES,ABI,BUSHMAN,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 156.000000,4852.000000, 0.031150,0.968850, maf-5-some-pop 737 chr21 19927378 19927379 rs568164681 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19927385 19927386 rs537311982 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19927408 19927409 rs561271235 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19927416 19927417 rs9981413 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.3752 0.216391 unknown exact 1 25 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1253.000000,3755.000000, 0.250200,0.749800, maf-5-some-pop,maf-5-all-pops 737 chr21 19927425 19927426 rs183632622 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19927435 19927436 rs186421022 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19927487 19927488 rs377236613 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 737 chr21 19927533 19927534 rs563644821 0 + T T A/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 unknown exact 1 1 1000GENOMES, 2 A,T, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19927555 19927556 rs12329846 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.376195 0.215812 unknown exact 1 23 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1258.000000,3750.000000, 0.251198,0.748802, maf-5-some-pop 737 chr21 19927621 19927622 rs2406336 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.269809 0.249214 unknown exact 1 28 1000GENOMES,ABI,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4203.000000,805.000000, 0.839257,0.160743, maf-5-some-pop 737 chr21 19927622 19927623 rs139758136 0 + T T A/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 unknown exact 1 1 1000GENOMES, 2 A,T, 31.000000,4977.000000, 0.006190,0.993810, 737 chr21 19927653 19927654 rs535050552 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19927693 19927694 rs552638553 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19927733 19927734 rs764920725 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19927740 19927741 rs546788216 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927741 19927742 rs191317524 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19927757 19927758 rs779990212 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19927765 19927767 rs201356367 0 + AC AC -/AC genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 737 chr21 19927767 19927769 rs57013480 0 + AT AT -/AT genomic deletion by-cluster,by-1000genomes 0 0 unknown range 1 DuplicateObserved 14 1000GENOMES,BILGI_BIOE,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,LUNTER,PJP,SSMP,TISHKOFF, 0 737 chr21 19927767 19927767 rs756033985 0 + - - -/AT genomic insertion unknown 0 0 unknown between 1 DuplicateObserved 1 DDI, 0 737 chr21 19927768 19927769 rs200973794 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 2 GMI,ILLUMINA, 0 737 chr21 19927822 19927828 rs527417647 0 + AGAGAA AGAGAA -/AGAGAA genomic deletion by-frequency,by-1000genomes 0.004383 0.04661 unknown range 1 1 1000GENOMES, 2 -,AGAGAA, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19927856 19927857 rs183316922 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19927859 19927860 rs561488978 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19927870 19927871 rs557398221 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927899 19927900 rs576057664 0 + T T A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19927909 19927910 rs1735767 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.315273 0.241329 unknown exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 982.000000,4026.000000, 0.196086,0.803914, maf-5-some-pop 737 chr21 19927922 19927923 rs555109049 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19927933 19927934 rs573875154 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927941 19927942 rs866067022 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19927958 19927959 rs755462322 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19927983 19927984 rs541362984 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19927984 19927985 rs553185586 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928007 19928008 rs71191410 0 + C C -/C genomic deletion by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 unknown exact 1 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,C, 170.000000,4838.000000, 0.033946,0.966054, maf-5-some-pop 737 chr21 19928008 19928009 rs398036187 0 + C C -/C genomic deletion unknown 0 0 unknown exact 1 SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 737 chr21 19928027 19928028 rs781163172 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928032 19928033 rs2210230 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.493432 0.056931 unknown exact 1 26 1000GENOMES,ABI,AFFY,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2217.000000,2791.000000, 0.442692,0.557308, maf-5-some-pop,maf-5-all-pops 737 chr21 19928033 19928034 rs9982039 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 unknown exact 1 2 1000GENOMES,WUGSC_SSAHASNP, 2 C,T, 4980.000000,28.000000, 0.994409,0.005591, 737 chr21 19928068 19928069 rs2142419 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.3744 0.216852 unknown exact 1 29 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1249.000000,3759.000000, 0.249401,0.750599, maf-5-some-pop,maf-5-all-pops 737 chr21 19928093 19928094 rs770017782 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928122 19928123 rs189724622 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19928137 19928138 rs1617486 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.342134 0.232404 unknown exact 1 29 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3911.000000,1097.000000, 0.780950,0.219050, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19928183 19928184 rs146371063 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0 0 unknown exact 1 5 1000GENOMES,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 0 737 chr21 19928184 19928184 rs767428082 0 + - - -/A genomic insertion by-cluster 0 0 unknown between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928188 19928189 rs561173403 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 unknown exact 1 1 1000GENOMES, 2 A,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19928189 19928191 rs796295033 0 + AT AT -/AT genomic deletion by-1000genomes 0 0 unknown range 1 1 1000GENOMES, 0 737 chr21 19928190 19928191 rs35943825 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.398894 0.200825 unknown exact 1 MixedObserved 13 1000GENOMES,ABI,BILGI_BIOE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, 2 -,T, 3630.000000,1378.000000, 0.724840,0.275160, maf-5-some-pop,maf-5-all-pops 737 chr21 19928190 19928191 rs113820282 0 + T T A/T genomic single unknown 0 0 unknown exact 1 MixedObserved,SingleAlleleFreq 4 BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 1 A, 1.000000, 1.000000, 737 chr21 19928190 19928193 rs758365347 0 + TAT TAT -/TAT genomic deletion by-cluster 0 0 unknown range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928190 19928190 rs200034557 0 + - - -/AT/T genomic insertion unknown 0 0 unknown between 1 MixedObserved 1 DDI, 0 737 chr21 19928191 19928192 rs528738021 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19928192 19928193 rs200877073 0 + T T -/T genomic deletion by-1000genomes 0 0 unknown exact 1 MixedObserved 1 1000GENOMES, 0 737 chr21 19928192 19928193 rs867865176 0 + T T A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 737 chr21 19928193 19928194 rs546925247 0 + A A A/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 1 1000GENOMES, 2 A,T, 4995.000000,13.000000, 0.997404,0.002596, 737 chr21 19928209 19928210 rs528539211 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19928213 19928214 rs548402706 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19928269 19928270 rs145037726 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19928279 19928280 rs532522184 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19928358 19928359 rs868270697 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19928370 19928371 rs2142420 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.377582 0.214995 unknown exact 1 27 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1265.000000,3743.000000, 0.252596,0.747404, maf-5-some-pop,maf-5-all-pops 737 chr21 19928397 19928398 rs764022878 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928445 19928446 rs561653924 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 737 chr21 19928452 19928453 rs776016176 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928458 19928459 rs569722759 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928464 19928465 rs761463252 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928475 19928476 rs867850936 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19928478 19928479 rs370634334 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19928518 19928519 rs536792207 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19928520 19928521 rs147549740 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928534 19928535 rs375276847 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19928541 19928542 rs567181053 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19928559 19928560 rs183092573 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928583 19928584 rs187913684 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19928584 19928585 rs193132748 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19928602 19928603 rs764832423 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928604 19928605 rs4366979 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.163237 0.234461 unknown exact 1 15 1000GENOMES,ABI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 449.000000,4559.000000, 0.089657,0.910343, maf-5-some-pop 737 chr21 19928608 19928609 rs556920822 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928609 19928610 rs570449633 0 + G G C/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19928663 19928666 rs386816775 0 + GAA GAA AAT/GAA genomic mnp by-cluster 0 0 unknown rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 2 HAMMER_LAB,TISHKOFF, 0 737 chr21 19928663 19928664 rs575693021 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19928664 19928665 rs542783605 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19928665 19928666 rs561320542 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19928678 19928679 rs761905339 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19928719 19928720 rs758101584 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928728 19928729 rs1735768 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.163237 0.234461 unknown exact 1 16 1000GENOMES,ABI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4559.000000,449.000000, 0.910343,0.089657, maf-5-some-pop 737 chr21 19928754 19928755 rs151165557 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19928783 19928784 rs565197114 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928802 19928803 rs751910094 0 + T T G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928823 19928824 rs532706249 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19928865 19928866 rs750450686 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19928882 19928883 rs551150887 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928884 19928885 rs755445298 0 + A A A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928888 19928889 rs376661584 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19928916 19928917 rs552599466 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19928932 19928933 rs781682780 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19928936 19928937 rs570551864 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19928937 19928938 rs569378214 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19928964 19928965 rs572512883 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19929003 19929004 rs530610556 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19929005 19929006 rs368591451 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19929009 19929010 rs753189566 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929059 19929060 rs758394618 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19929062 19929063 rs796478797 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 HAMMER_LAB, 0 737 chr21 19929064 19929065 rs140565941 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4995.000000,13.000000, 0.997404,0.002596, 737 chr21 19929092 19929093 rs777803224 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929097 19929098 rs749563203 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929100 19929101 rs567389702 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929112 19929113 rs1740200 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.161267 0.233723 unknown exact 1 15 1000GENOMES,ABI,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 443.000000,4565.000000, 0.088459,0.911542, maf-5-some-pop 737 chr21 19929117 19929118 rs779715472 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929131 19929132 rs746757746 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929175 19929176 rs368094045 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 737 chr21 19929200 19929201 rs768318364 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929221 19929222 rs150455254 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929229 19929230 rs138500855 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19929230 19929231 rs538984235 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19929312 19929313 rs557096980 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929313 19929314 rs780844293 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19929319 19929320 rs141388171 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 unknown exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4963.000000,45.000000, 0.991014,0.008986, 737 chr21 19929325 19929326 rs761810184 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929344 19929345 rs144993598 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19929353 19929354 rs772798009 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929366 19929367 rs554738955 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929375 19929376 rs530399624 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19929409 19929413 rs780047556 0 + AAAC AAAC -/AAAC genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929411 19929412 rs540222804 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929431 19929432 rs564985008 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929451 19929452 rs577098958 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19929461 19929462 rs138798932 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19929465 19929466 rs149345910 0 + G G G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19929466 19929467 rs563208566 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929485 19929486 rs117788253 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 unknown exact 1 4 1000GENOMES,EVA_GENOME_DK,GMI,SSMP, 2 A,C, 37.000000,4971.000000, 0.007388,0.992612, 737 chr21 19929495 19929496 rs185309880 0 + A A A/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19929504 19929505 rs548764354 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19929527 19929528 rs144746627 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 737 chr21 19929542 19929543 rs188725689 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19929544 19929545 rs546617916 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929548 19929549 rs765991926 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929552 19929553 rs34641894 0 - C C A/G genomic single by-cluster 0.375 0.216506 unknown exact 1 2 ABI,HUMANGENOME_JCVI, 2 A,G, 1.000000,3.000000, 0.250000,0.750000, 737 chr21 19929562 19929563 rs867388054 0 + C C C/G genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19929597 19929598 rs866423874 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19929609 19929610 rs751884649 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929627 19929628 rs2406338 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.497749 0.033471 unknown exact 1 29 1000GENOMES,ABI,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2336.000000,2672.000000, 0.466454,0.533546, maf-5-some-pop,maf-5-all-pops 737 chr21 19929649 19929650 rs538910197 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19929657 19929658 rs148112047 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 C,T, 13.000000,4995.000000, 0.002596,0.997404, 737 chr21 19929708 19929709 rs543688089 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929712 19929713 rs569156349 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19929718 19929719 rs201732184 0 + A A A/T genomic single unknown 0 0 unknown exact 1 1 GMI, 0 737 chr21 19929719 19929720 rs372696107 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19929738 19929739 rs374972929 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19929745 19929745 rs35059775 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 737 chr21 19929764 19929765 rs540699193 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19929782 19929783 rs78567722 0 + A A A/G genomic single by-cluster,by-frequency 0.5 0 unknown exact 1 2 ENSEMBL,GMI, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 737 chr21 19929791 19929792 rs9982526 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.027176 0.113356 unknown exact 1 5 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4939.000000,69.000000, 0.986222,0.013778, 737 chr21 19929812 19929813 rs772549904 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19929830 19929831 rs192613809 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19929835 19929836 rs534054794 0 + A A A/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19929840 19929841 rs375555778 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 TISHKOFF, 0 737 chr21 19929862 19929863 rs756595379 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929869 19929870 rs147394055 0 + A A A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19929872 19929873 rs139769999 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 737 chr21 19929874 19929875 rs577658292 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19929951 19929952 rs753878288 0 + G G C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19929996 19929997 rs757431208 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930000 19930001 rs544613520 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19930011 19930012 rs562991621 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19930036 19930037 rs779249737 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930038 19930039 rs546523556 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19930048 19930049 rs575084642 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19930057 19930058 rs746069601 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930095 19930096 rs542050668 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19930096 19930097 rs545551488 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19930097 19930098 rs2205484 0 + G G A/G genomic single by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 5 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TSC-CSHL, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 737 chr21 19930101 19930102 rs2205485 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.434398 0.168811 unknown exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1597.000000,3411.000000, 0.318890,0.681110, maf-5-some-pop 737 chr21 19930102 19930103 rs546752203 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19930108 19930109 rs2205486 0 + C C A/C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.429359 0.189413 unknown exact 1 SingleClassTriAllelic 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 3 A,C,T, 1483.000000,3480.000000,45.000000, 0.296126,0.694888,0.008986, maf-5-some-pop,maf-5-all-pops 737 chr21 19930109 19930110 rs145281100 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 737 chr21 19930110 19930111 rs147143983 0 + G G A/G genomic single by-frequency,by-1000genomes 0.003588 0.042202 unknown exact 1 1 1000GENOMES, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19930112 19930113 rs776857064 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19930140 19930141 rs184187291 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19930160 19930161 rs761805422 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19930163 19930164 rs139482056 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19930172 19930173 rs1735769 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.293807 0.246132 unknown exact 1 29 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 896.000000,4112.000000, 0.178914,0.821086, maf-5-some-pop,maf-5-all-pops 737 chr21 19930183 19930184 rs2205487 0 + A A A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.192401 0.243274 unknown exact 1 18 1000GENOMES,ABI,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 4468.000000,540.000000, 0.892173,0.107827, maf-5-some-pop 737 chr21 19930195 19930196 rs530718247 0 + C C A/C/T genomic single by-cluster 0 0 unknown exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930235 19930236 rs774121462 0 + T T A/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930261 19930262 rs558596036 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19930264 19930265 rs547387751 0 + A A A/T genomic single unknown 0 0 unknown exact 1 MixedObserved 1 JMKIDD_LAB, 0 737 chr21 19930264 19930264 rs550405014 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown between 1 MixedObserved 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 -,A, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19930268 19930272 rs374911333 0 + AAAA AAAA -/AAAA genomic deletion unknown 0 0 unknown range 1 1 TISHKOFF, 0 737 chr21 19930272 19930272 rs201642374 0 + - - -/A genomic insertion unknown 0 0 unknown between 1 1 GMI, 0 737 chr21 19930275 19930276 rs759083005 0 + G G G/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930277 19930278 rs767978372 0 + A A A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930283 19930284 rs145538007 0 + A A A/G genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19930312 19930313 rs570413409 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19930360 19930361 rs570925824 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19930363 19930364 rs374070122 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,SSMP, 0 737 chr21 19930370 19930371 rs148848146 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19930372 19930373 rs377320720 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSMP, 0 737 chr21 19930416 19930417 rs766378836 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19930485 19930486 rs556564094 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19930548 19930549 rs575030892 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19930568 19930569 rs542541248 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19930569 19930570 rs751329615 0 + T T C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19930584 19930585 rs754740038 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19930591 19930592 rs533015403 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930615 19930616 rs546502614 0 + T T C/T genomic single by-cluster 0 0 unknown exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930665 19930666 rs554393770 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19930691 19930695 rs201989510 0 + ATAG ATAG -/ATAG genomic deletion by-cluster,by-frequency,by-1000genomes 0.05811 0.160244 unknown range 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER,SSMP, 2 -,ATAG, 150.000000,4858.000000, 0.029952,0.970048, maf-5-some-pop 737 chr21 19930696 19930697 rs572642894 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 737 chr21 19930715 19930716 rs188137137 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19930735 19930736 rs144413363 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19930746 19930747 rs113976838 0 + A A A/C genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 A,C, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19930783 19930784 rs550178104 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 SSIP, 0 737 chr21 19930784 19930785 rs181050284 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19930822 19930823 rs12481859 0 + A A A/G genomic single by-cluster,by-hapmap 0 0 unknown exact 1 2 CSHL-HAPMAP,ILLUMINA, 0 737 chr21 19930823 19930823 rs142622000 0 + - - -/ATAG/GATA genomic insertion by-cluster,by-frequency,by-1000genomes 0.483126 0.09029 unknown between 1 InconsistentAlleles 12 1000GENOMES,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,ATAG, 2044.000000,2964.000000, 0.408147,0.591853, maf-5-some-pop,maf-5-all-pops 737 chr21 19930824 19930824 rs67025772 0 + - - -/ATAG genomic insertion unknown 0 0 unknown between 1 1 PJP, 0 737 chr21 19930826 19930826 rs3082250 0 + - - -/G/GATA genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 6 BCMHGSC_JDW,EVA_GENOME_DK,GMI,HGSV,HUMANGENOME_JCVI,TSC-CSHL, 1 GATA, 2.000000, 1.000000, 737 chr21 19930828 19930828 rs745880761 0 + - - -/AAC genomic insertion unknown 0 0 unknown between 1 1 EVA_GENOME_DK, 0 737 chr21 19930867 19930868 rs755710891 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19930920 19930921 rs202220283 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 GMI, 0 737 chr21 19930921 19930922 rs555424249 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008432 0.064379 unknown exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 5.000000,1176.000000, 0.004234,0.995766, 737 chr21 19930922 19930922 rs112177913 0 + - - -/TTAT/TTTA genomic insertion by-cluster,by-frequency,by-1000genomes 0.359613 0.224689 unknown between 1 InconsistentAlleles 11 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,HAMMER_LAB,LUNTER,PJP,SSMP, 2 -,TTAT, 1176.000000,3827.000000, 0.235059,0.764941, maf-5-some-pop,maf-5-all-pops 737 chr21 19930923 19930924 rs543859694 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19930925 19930925 rs5842700 0 + - - -/TTTA genomic insertion by-cluster 0 0 unknown between 1 SingleAlleleFreq 3 GMI,HGSV,HUMANGENOME_JCVI, 1 TTTA, 2.000000, 1.000000, 737 chr21 19930961 19930962 rs562531083 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19930966 19930967 rs537649010 0 + G G G/T genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19930977 19930979 rs769193032 0 + AT AT -/AT genomic deletion by-cluster 0 0 unknown range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19930987 19930988 rs529929664 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19930993 19930994 rs2205488 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.483272 0.089911 unknown exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 2046.000000,2962.000000, 0.408546,0.591454, maf-5-some-pop,maf-5-all-pops 737 chr21 19931003 19931004 rs570198043 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19931014 19931015 rs184909204 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19931027 19931028 rs757421429 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931028 19931029 rs765197422 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931060 19931061 rs190504579 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 unknown exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 737 chr21 19931068 19931069 rs758501130 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931092 19931093 rs552803123 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 JMKIDD_LAB, 0 737 chr21 19931110 19931111 rs78600775 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 unknown exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19931113 19931114 rs868428347 0 + C C C/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19931132 19931133 rs2739303 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.047535 0.146656 unknown exact 1 13 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4886.000000,122.000000, 0.975639,0.024361, maf-5-some-pop 737 chr21 19931133 19931134 rs556264339 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19931151 19931152 rs756135906 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931156 19931157 rs777917399 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931158 19931159 rs146593878 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19931194 19931195 rs535865432 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19931208 19931209 rs554477620 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19931220 19931221 rs76018220 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.065587 0.168795 unknown exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 170.000000,4838.000000, 0.033946,0.966054, maf-5-some-pop 737 chr21 19931243 19931244 rs181761698 0 + C C C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19931244 19931245 rs1740139 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.352504 0.228019 unknown exact 1 22 1000GENOMES,ABI,AFFY,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1144.000000,3864.000000, 0.228435,0.771565, maf-5-some-pop 737 chr21 19931283 19931284 rs770515870 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931363 19931364 rs1740140 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.355096 0.226837 unknown exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3852.000000,1156.000000, 0.769169,0.230831, maf-5-some-pop,maf-5-all-pops 737 chr21 19931374 19931375 rs1740141 0 + G G A/G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050968 0.151382 unknown exact 1 SingleClassTriAllelic 10 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 3 A,G,T, 129.000000,4877.000000,2.000000, 0.025759,0.973842,0.000399, maf-5-some-pop,maf-5-all-pops 737 chr21 19931390 19931391 rs562204657 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19931395 19931396 rs775839822 0 + C C A/C genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931402 19931403 rs141452927 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 unknown exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF, 2 A,C, 4988.000000,20.000000, 0.996006,0.003994, 737 chr21 19931418 19931419 rs764435597 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931433 19931434 rs866208402 0 + T T G/T genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19931469 19931470 rs186592937 0 + T T C/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19931471 19931472 rs777158221 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931479 19931480 rs191956545 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19931523 19931524 rs145145390 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19931540 19931541 rs1740142 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.356811 0.226034 unknown exact 1 34 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1164.000000,3844.000000, 0.232428,0.767572, maf-5-some-pop,maf-5-all-pops 737 chr21 19931559 19931560 rs796718985 0 + C C A/C genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,WEILL_CORNELL_DGM, 0 737 chr21 19931589 19931590 rs532893596 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 2 1000GENOMES,SSIP, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19931592 19931593 rs1735770 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19931605 19931606 rs117278335 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018986 0.095563 unknown exact 1 5 1000GENOMES,GMI,ILLUMINA,JMKIDD_LAB,SSMP, 2 A,G, 4960.000000,48.000000, 0.990415,0.009585, 737 chr21 19931609 19931610 rs531698251 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19931627 19931628 rs550217538 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19931630 19931631 rs1740143 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050569 0.150756 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19931645 19931646 rs535802829 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19931700 19931701 rs766649693 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931712 19931713 rs547822302 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19931733 19931734 rs751819201 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931752 19931753 rs201792113 0 + G G -/G genomic deletion unknown 0 0 unknown exact 1 1 GMI, 0 737 chr21 19931766 19931767 rs566368814 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19931769 19931770 rs540162942 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19931779 19931780 rs181100541 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19931789 19931790 rs185507453 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19931794 19931795 rs1735771 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050569 0.150756 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19931807 19931808 rs556173623 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19931900 19931900 rs34446114 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 737 chr21 19931909 19931910 rs574201068 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19931913 19931914 rs148370681 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19931933 19931934 rs189674907 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19931964 19931965 rs777680389 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19931972 19931973 rs35366141 0 + T T -/T genomic deletion unknown 0 0 unknown exact 1 1 ABI, 0 737 chr21 19932008 19932009 rs749300690 0 + G G A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932055 19932056 rs182350047 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932057 19932058 rs546116138 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19932080 19932081 rs113240973 0 + C C C/G genomic single unknown 0.5 0 unknown exact 1 1 BUSHMAN, 2 C,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19932085 19932086 rs552736198 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 2 1000GENOMES,SSIP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19932102 19932106 rs111597321 0 + AATT AATT -/AATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 unknown range 1 2 1000GENOMES,BUSHMAN, 2 -,AATT, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19932112 19932113 rs531508501 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932161 19932162 rs763074649 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19932165 19932166 rs374496169 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 2 JMKIDD_LAB,TISHKOFF, 0 737 chr21 19932186 19932187 rs549712974 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932205 19932206 rs757097269 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932216 19932217 rs140469574 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19932226 19932227 rs80081451 0 + T T C/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 unknown exact 1 1 1000GENOMES, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19932241 19932242 rs547789740 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19932247 19932248 rs778518842 0 + A A A/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932262 19932262 rs146150308 0 + - - -/G genomic insertion by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown between 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,G, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19932282 19932283 rs150399558 0 + C C A/C genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19932295 19932296 rs563901372 0 + C C C/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932297 19932298 rs78507034 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06223 0.165053 unknown exact 1 12 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4847.000000,161.000000, 0.967851,0.032149, maf-5-some-pop 737 chr21 19932303 19932304 rs775187263 0 + C C C/G genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932310 19932311 rs539856650 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19932317 19932318 rs1740144 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.050948 0.151255 unknown exact 1 10 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop,genotype-conflict 737 chr21 19932329 19932330 rs1740145 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.054725 0.156101 unknown exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 141.000000,4867.000000, 0.028155,0.971845, maf-5-some-pop 737 chr21 19932340 19932340 rs34600365 0 + - - -/G genomic insertion unknown 0 0 unknown between 1 1 ABI, 0 737 chr21 19932341 19932342 rs201517512 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 2 1000GENOMES,GMI, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19932346 19932347 rs1740146 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050948 0.151255 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19932371 19932372 rs117487110 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932439 19932440 rs11910755 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.120674 0.21395 unknown exact 1 8 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4685.000000,323.000000, 0.935503,0.064497, maf-5-some-pop 737 chr21 19932443 19932444 rs2824909 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.482459 0.091993 unknown exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2035.000000,2973.000000, 0.406350,0.593650, maf-5-some-pop,maf-5-all-pops 737 chr21 19932451 19932452 rs765594935 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932493 19932494 rs187707831 0 + T T G/T genomic single by-1000genomes 0 0 unknown exact 1 1 1000GENOMES, 0 737 chr21 19932507 19932508 rs571675596 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19932511 19932512 rs545506287 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19932516 19932517 rs73895641 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19932523 19932524 rs2748794 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19932525 19932526 rs543594325 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932526 19932527 rs566685677 0 + G G A/G genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932528 19932529 rs764006869 0 + A A A/G genomic single by-cluster 0 0 unknown exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932545 19932546 rs73895642 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19932573 19932574 rs529389251 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19932612 19932613 rs547874847 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19932624 19932625 rs2979441 0 + A A A/C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.055603 0.157774 unknown exact 1 SingleClassTriAllelic 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,G, 4865.000000,131.000000,12.000000, 0.971446,0.026158,0.002396, maf-5-some-pop,maf-5-all-pops 737 chr21 19932641 19932642 rs551494434 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932652 19932653 rs752415680 0 + A A A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19932656 19932657 rs2824910 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.485118 0.084969 unknown exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2072.000000,2936.000000, 0.413738,0.586262, maf-5-some-pop,maf-5-all-pops 737 chr21 19932659 19932660 rs765361285 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA_GENOME_DK, 0 737 chr21 19932703 19932704 rs1735772 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19932710 19932711 rs113195462 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19932746 19932747 rs138223102 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,SSMP, 2 C,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19932770 19932771 rs757941716 0 + T T C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932779 19932780 rs149576367 0 + C C C/T genomic single by-frequency,by-1000genomes 0.032211 0.122752 unknown exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 C,T, 4926.000000,82.000000, 0.983626,0.016374, maf-5-some-pop 737 chr21 19932789 19932790 rs553423656 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932816 19932817 rs867360299 0 + A A A/C genomic single unknown 0 0 unknown exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19932857 19932858 rs1735773 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown exact 1 6 1000GENOMES,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19932865 19932866 rs191851860 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 unknown exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19932890 19932891 rs374701705 0 + G G G/T genomic single by-cluster 0 0 unknown exact 1 2 HAMMER_LAB,TISHKOFF, 0 737 chr21 19932911 19932912 rs557511178 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 unknown exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19932917 19932918 rs1735774 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 unknown exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19932920 19932921 rs147410369 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.013486 0.081001 unknown exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4974.000000,34.000000, 0.993211,0.006789, 737 chr21 19932921 19932922 rs78516641 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 unknown exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19932925 19932926 rs548749289 0 + A A A/T genomic single by-cluster 0 0 unknown exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932940 19932941 rs753369853 0 + G G A/G genomic single unknown 0 0 unknown exact 1 1 EVA_DECODE, 0 737 chr21 19932944 19932946 rs67852720 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 unknown range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 2 -,TG, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19932947 19932949 rs61051567 0 + GT GT -/GT genomic deletion by-cluster 0 0 unknown range 1 2 HGSV,TISHKOFF, 0 737 chr21 19932950 19932951 rs573849536 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19932951 19932952 rs2748795 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.051704 0.152246 unknown exact 1 9 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 133.000000,4875.000000, 0.026557,0.973442, maf-5-some-pop 737 chr21 19932960 19932961 rs748401962 0 + C C C/T genomic single unknown 0 0 unknown exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19932963 19932964 rs559844116 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19932964 19932965 rs568838282 0 + C C A/C genomic single unknown 0 0 unknown exact 1 1 EVA-GONL, 0 737 chr21 19932978 19932980 rs756699517 0 + AA AA -/AA genomic deletion unknown 0 0 unknown range 1 1 EVA_DECODE, 0 737 chr21 19932986 19932987 rs533305900 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 unknown exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19933037 19933038 rs184132130 0 + T T G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 unknown exact 1 1 1000GENOMES, 2 G,T, 17.000000,4991.000000, 0.003395,0.996605, 737 chr21 19933064 19933065 rs563559833 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 unknown exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19933080 19933081 rs80002659 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.020942 0.100162 unknown exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4955.000000,53.000000, 0.989417,0.010583, maf-5-some-pop 737 chr21 19933083 19933084 rs138079038 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.062977 0.165899 near-gene-3 exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 737 chr21 19933142 19933143 rs567641279 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19933146 19933147 rs571030688 0 + A A A/G genomic single unknown 0 0 near-gene-3 exact 1 1 EVA-GONL, 0 737 chr21 19933173 19933174 rs113498844 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19933197 19933198 rs374896383 0 + G G A/G genomic single unknown 0 0 near-gene-3 exact 1 1 SSMP, 0 737 chr21 19933206 19933207 rs546802696 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19933223 19933224 rs565430283 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19933228 19933229 rs539207545 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19933243 19933244 rs540067886 0 + G G A/G genomic single unknown 0 0 near-gene-3 exact 1 1 EVA-GONL, 0 737 chr21 19933260 19933261 rs557715514 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19933274 19933275 rs1735775 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.053216 0.154195 near-gene-3 exact 1 4 1000GENOMES,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 A,C, 137.000000,4871.000000, 0.027356,0.972644, maf-5-some-pop 737 chr21 19933331 19933332 rs537070016 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 near-gene-3 exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19933357 19933358 rs13050111 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.493201 0.057909 near-gene-3 exact 1 14 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 2212.000000,2796.000000, 0.441693,0.558307, maf-5-some-pop,maf-5-all-pops 737 chr21 19933373 19933374 rs573990012 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19933391 19933392 rs372233769 0 + A A A/G genomic single unknown 0 0 near-gene-3 exact 1 1 SSMP, 0 737 chr21 19933480 19933481 rs541217137 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19933498 19933499 rs553250823 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 near-gene-3 exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19933500 19933501 rs188187857 0 + A A A/G genomic single by-frequency,by-1000genomes 0.004781 0.048658 near-gene-3 exact 1 1 1000GENOMES, 2 A,G, 4996.000000,12.000000, 0.997604,0.002396, 737 chr21 19933504 19933505 rs193167209 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 near-gene-3 exact 1 4 1000GENOMES,EVA-GONL,EVA_GENOME_DK,WEILL_CORNELL_DGM, 0 737 chr21 19933517 19933518 rs545204757 0 + T T A/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 near-gene-3 exact 1 1 1000GENOMES, 2 A,T, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19933540 19933541 rs1735776 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 near-gene-3 exact 1 5 1000GENOMES,HAMMER_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19933564 19933565 rs1735777 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 near-gene-3 exact 1 5 1000GENOMES,HAMMER_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19933598 19933599 rs542615208 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19933603 19933604 rs1735778 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 ncRNA exact 1 4 1000GENOMES,HAMMER_LAB,SC_JCM,WEILL_CORNELL_DGM, 2 A,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19933615 19933616 rs141172295 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19933674 19933675 rs546790241 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19933721 19933722 rs112635878 0 + T T C/T genomic single unknown 0 0 ncRNA exact 1 SingleAlleleFreq 1 BUSHMAN, 1 C, 1.000000, 1.000000, 737 chr21 19933725 19933726 rs375528162 0 + C C C/T genomic single unknown 0 0 ncRNA exact 1 1 SSMP, 0 737 chr21 19933773 19933774 rs13051488 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.445987 0.155207 ncRNA exact 1 14 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,GMI,HGSV,HUMANGENOME_JCVI,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1681.000000,3327.000000, 0.335663,0.664337, maf-5-some-pop,maf-5-all-pops 737 chr21 19933775 19933776 rs2983166 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 ncRNA exact 1 4 1000GENOMES,ABI,SC_JCM,WEILL_CORNELL_DGM, 2 C,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19933777 19933778 rs190647937 0 + G G A/G genomic single unknown 0 0 ncRNA exact 1 1 MPI_MOLGEN, 0 737 chr21 19933782 19933783 rs2739304 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.390838 0.206555 ncRNA exact 1 15 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1334.000000,3674.000000, 0.266374,0.733626, maf-5-some-pop,maf-5-all-pops 737 chr21 19933791 19933792 rs187344872 0 + C C C/T genomic single by-1000genomes 0 0 ncRNA exact 1 1 1000GENOMES, 0 737 chr21 19933793 19933794 rs555431461 0 + T T C/T genomic single by-cluster 0 0 ncRNA exact 1 2 EVA-GONL,EVA_GENOME_DK, 0 737 chr21 19933839 19933840 rs2983167 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 ncRNA exact 1 5 1000GENOMES,ABI,HAMMER_LAB,SC_JCM,WEILL_CORNELL_DGM, 2 C,G, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19933842 19933843 rs2739305 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 ncRNA exact 1 4 1000GENOMES,HAMMER_LAB,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19933862 19933863 rs75318069 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 ncRNA exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,ENSEMBL,GMI, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19933881 19933882 rs191347771 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19933892 19933893 rs534944208 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19933894 19933896 rs370790522 0 + TC TC -/TC genomic deletion by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 ncRNA range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,TC, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19933899 19933900 rs553187494 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19933920 19933921 rs544268771 0 + C C A/C genomic single by-cluster 0 0 ncRNA exact 1 2 EVA-GONL,EVA_DECODE, 0 737 chr21 19933929 19933930 rs183915485 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19933935 19933936 rs538849585 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19933940 19933941 rs557129096 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19933946 19933947 rs575703112 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19933947 19933948 rs143793001 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.021724 0.101931 ncRNA exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4953.000000,55.000000, 0.989018,0.010982, 737 chr21 19933951 19933962 rs564266574 0 + ATCTTGGCCTG ATCTTGGCCTG -/ATCTTGGCCTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 ncRNA range 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK, 2 -,ATCTTGGCCTG, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19933954 19933955 rs2748796 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 ncRNA exact 1 6 1000GENOMES,ABI,HAMMER_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19933959 19933960 rs2739306 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 ncRNA exact 1 6 1000GENOMES,ABI,HAMMER_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19933973 19933974 rs577398645 0 + C C C/T genomic single unknown 0 0 ncRNA exact 1 1 EVA-GONL, 0 737 chr21 19933974 19933975 rs540560868 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 ncRNA exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19933984 19933985 rs2739307 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 ncRNA exact 1 6 1000GENOMES,ABI,HAMMER_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19933985 19933986 rs540076685 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 ncRNA exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19933986 19933987 rs551161079 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934011 19934012 rs770162794 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19934033 19934034 rs560391779 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19934058 19934059 rs566182186 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934059 19934060 rs2739308 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 4 1000GENOMES,ABI,SC_JCM,WEILL_CORNELL_DGM, 2 G,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19934062 19934063 rs377738966 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19934073 19934074 rs2748797 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 5 1000GENOMES,ABI,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19934092 19934093 rs2979442 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 5 1000GENOMES,ABI,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 G,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19934093 19934094 rs11911592 0 + G G C/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.063724 0.166737 intron exact 1 5 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,WEILL_CORNELL_DGM, 2 C,G, 165.000000,4843.000000, 0.032947,0.967053, maf-5-some-pop 737 chr21 19934099 19934100 rs776482828 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_MGP, 0 737 chr21 19934105 19934106 rs546552560 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934128 19934129 rs2748798 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 6 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19934138 19934139 rs538415679 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934143 19934144 rs146621363 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934147 19934148 rs575649591 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934174 19934175 rs189509751 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,EVA_MGP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19934175 19934176 rs2979443 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.05289 0.154026 intron exact 1 SingleClassTriAllelic 8 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SC_JCM,WEILL_CORNELL_DGM, 3 A,G,T, 5.000000,4872.000000,131.000000, 0.000998,0.972843,0.026158, 737 chr21 19934215 19934216 rs2824911 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.391024 0.206427 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_MGP,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 G,T, 1335.000000,3673.000000, 0.266573,0.733427, maf-5-some-pop,maf-5-all-pops 737 chr21 19934231 19934232 rs150138075 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_MGP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4848.000000,160.000000, 0.968051,0.031949, maf-5-some-pop 737 chr21 19934239 19934240 rs577504358 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934240 19934241 rs181979929 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 737 chr21 19934263 19934264 rs2776086 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 7 1000GENOMES,ABI,EVA_MGP,HAMMER_LAB,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 G,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19934283 19934284 rs530605816 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934285 19934286 rs2776087 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.033755 0.125452 intron exact 1 22 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4922.000000,86.000000, 0.982827,0.017173, maf-5-some-pop 737 chr21 19934304 19934305 rs35056387 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 3 1000GENOMES,ABI,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19934362 19934363 rs144455303 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19934372 19934373 rs764750636 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 737 chr21 19934374 19934374 rs575918950 0 + - - -/GTTT genomic insertion by-frequency,by-1000genomes 0.047535 0.146656 intron between 1 1 1000GENOMES, 2 -,GTTT, 4886.000000,122.000000, 0.975639,0.024361, maf-5-some-pop 737 chr21 19934377 19934377 rs766896280 0 + - - -/TGTC genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 737 chr21 19934378 19934378 rs3082251 0 + - - -/GTTT genomic insertion unknown 0 0 intron between 1 1 TSC-CSHL, 0 737 chr21 19934381 19934382 rs761576607 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19934397 19934398 rs9975867 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.356597 0.226135 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1163.000000,3845.000000, 0.232228,0.767772, maf-5-some-pop,maf-5-all-pops 737 chr21 19934427 19934427 rs767833276 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19934437 19934438 rs74501943 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 737 chr21 19934453 19934454 rs78570772 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 737 chr21 19934460 19934461 rs571402498 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19934471 19934472 rs148394241 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19934500 19934501 rs185687935 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934511 19934512 rs142337710 0 + G G C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 G,T, 4876.000000,132.000000, 0.973642,0.026358, maf-5-some-pop 737 chr21 19934517 19934518 rs568747718 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19934530 19934531 rs536060674 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934532 19934533 rs867508777 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19934568 19934569 rs189827113 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19934571 19934572 rs566632561 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19934592 19934593 rs201738881 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 2 GMI,SSMP, 0 737 chr21 19934620 19934621 rs2824913 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.441841 0.160303 intron exact 1 17 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BL,DDI,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1650.000000,3358.000000, 0.329473,0.670527, maf-5-some-pop,maf-5-all-pops 737 chr21 19934627 19934628 rs771876835 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19934628 19934629 rs558953878 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934633 19934634 rs577444900 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934639 19934640 rs181667005 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19934644 19934645 rs556592609 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19934668 19934669 rs575057094 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19934669 19934670 rs542446304 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934679 19934680 rs560926142 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19934698 19934699 rs139859536 0 + G G A/G genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 1 1000GENOMES, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 737 chr21 19934709 19934710 rs775390567 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19934732 19934733 rs539844922 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934738 19934739 rs564925451 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934742 19934743 rs532292826 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934744 19934745 rs550819601 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19934773 19934774 rs568836013 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934792 19934793 rs3991100 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 3 1000GENOMES,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19934837 19934838 rs3991101 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,BCM_SSAHASNP,TSC-CSHL, 2 A,C, 28.000000,4980.000000, 0.005591,0.994409, 737 chr21 19934857 19934858 rs201203300 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19934882 19934883 rs566621108 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19934907 19934908 rs535736603 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19934932 19934932 rs535403451 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.006369 0.056072 intron between 1 1 1000GENOMES, 2 -,C, 4992.000000,16.000000, 0.996805,0.003195, 737 chr21 19934941 19934942 rs117262225 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.095 0.19615 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 G,T, 6.000000,114.000000, 0.050000,0.950000, maf-5-some-pop,maf-5-all-pops 737 chr21 19934947 19934948 rs111956137 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19934983 19934984 rs558664486 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19934994 19934995 rs760414364 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19935011 19935012 rs570789533 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19935020 19935021 rs3991102 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TSC-CSHL, 0 737 chr21 19935021 19935022 rs537873437 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19935030 19935031 rs185453504 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19935047 19935047 rs571716848 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron between 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19935086 19935087 rs575221520 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19935122 19935123 rs111686097 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 737 chr21 19935123 19935124 rs542433900 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19935125 19935126 rs796427736 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 PADH-LAB_SPU, 0 737 chr21 19935127 19935129 rs753423218 0 + GA GA -/GA genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19935128 19935129 rs554454700 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19935162 19935163 rs572956084 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19935168 19935169 rs374469190 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19935181 19935182 rs201803324 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19935187 19935188 rs199939040 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_DECODE,GMI, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19935195 19935196 rs564846187 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19935212 19935213 rs143805145 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 129.000000,4879.000000, 0.025759,0.974241, maf-5-some-pop 737 chr21 19935226 19935227 rs543872451 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4879.000000,129.000000, 0.974241,0.025759, maf-5-some-pop 737 chr21 19935237 19935238 rs368712870 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19935241 19935242 rs190208903 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19935248 19935249 rs534507470 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19935257 19935258 rs547469856 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19935261 19935262 rs529979730 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19935285 19935286 rs547957575 0 + C C C/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 C,T, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19935301 19935302 rs559949525 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19935338 19935339 rs139421831 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.047535 0.146656 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 122.000000,4886.000000, 0.024361,0.975639, maf-5-some-pop 737 chr21 19935339 19935340 rs766128516 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 737 chr21 19935365 19935366 rs552610613 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19935374 19935375 rs570859782 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19935377 19935378 rs538200263 0 + C C C/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19935412 19935413 rs550240716 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19935426 19935427 rs113725778 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 737 chr21 19935480 19935481 rs150052456 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 737 chr21 19935483 19935484 rs1740147 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.034141 0.126114 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 87.000000,4921.000000, 0.017372,0.982628, maf-5-some-pop 737 chr21 19935532 19935533 rs537881108 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19935533 19935534 rs749869348 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19935546 19935547 rs780147457 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_MGP, 0 737 chr21 19935550 19935551 rs1740148 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 6 1000GENOMES,ABI,EVA_MGP,SC_JCM,SEQUENOM,WEILL_CORNELL_DGM, 2 C,T, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19935584 19935585 rs539669480 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19935609 19935610 rs557818863 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19935614 19935615 rs577761891 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19935631 19935632 rs114429342 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 5 1000GENOMES,EVA_MGP,HAMMER_LAB,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 158.000000,4850.000000, 0.031549,0.968450, maf-5-some-pop 737 chr21 19935635 19935636 rs2824914 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.481165 0.095199 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 2990.000000,2018.000000, 0.597045,0.402955, maf-5-some-pop,maf-5-all-pops 737 chr21 19935636 19935637 rs543799413 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19935650 19935651 rs562170417 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19935661 19935662 rs574374243 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19935662 19935663 rs541685737 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19935664 19935665 rs181252861 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19935665 19935666 rs527433219 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19935695 19935696 rs9978272 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 3 1000GENOMES,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 737 chr21 19935713 19935714 rs751002454 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19935715 19935716 rs1740149 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 5 1000GENOMES,EVA_MGP,SC_JCM,SEQUENOM,WEILL_CORNELL_DGM, 2 A,G, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19935716 19935717 rs1735779 0 + A A A/G/T genomic single by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 5 1000GENOMES,EVA_MGP,GMI,SC_JCM,SEQUENOM, 2 A,T, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19935725 19935726 rs550177385 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19935728 19935729 rs781502858 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19935739 19935740 rs200908068 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19935745 19935746 rs1735780 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_JCM,WEILL_CORNELL_DGM, 2 C,G, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19935756 19935757 rs535869643 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19935768 19935769 rs560049295 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 5 EVA-GONL,EVA_DECODE,EVA_MGP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19935800 19935801 rs756477171 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19935806 19935807 rs184973288 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19935853 19935854 rs548082892 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19935862 19935863 rs573796515 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19935873 19935874 rs141607103 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19935881 19935882 rs34360088 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.114036 0.209795 intron exact 1 5 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 304.000000,4704.000000, 0.060703,0.939297, maf-5-some-pop 737 chr21 19935900 19935901 rs367835028 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19935910 19935911 rs371557920 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19935971 19935972 rs558113934 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19935979 19935980 rs570503212 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19935998 19935999 rs537582039 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19936018 19936019 rs542529773 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,WEILL_CORNELL_DGM, 0 737 chr21 19936034 19936035 rs376157519 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19936050 19936051 rs191043557 0 + G G G/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19936065 19936066 rs143134494 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.073 0.176553 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 190.000000,4818.000000, 0.037939,0.962061, maf-5-some-pop 737 chr21 19936079 19936080 rs541426867 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 MixedObserved 1 1000GENOMES, 2 G,T, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19936079 19936079 rs556959552 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron between 1 MixedObserved 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 -,T, 4989.000000,19.000000, 0.996206,0.003794, 737 chr21 19936090 19936091 rs572248248 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19936108 19936109 rs553992405 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19936119 19936120 rs531318869 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19936143 19936144 rs66861734 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.294576 0.245994 intron exact 1 13 1000GENOMES,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4109.000000,899.000000, 0.820487,0.179513, maf-5-some-pop 737 chr21 19936147 19936148 rs545977303 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19936200 19936201 rs564155068 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19936209 19936210 rs563911441 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19936213 19936214 rs531817904 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19936234 19936235 rs35052007 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 3 1000GENOMES,ABI,WEILL_CORNELL_DGM, 2 A,C, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19936252 19936253 rs562189188 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19936273 19936274 rs377124484 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 DDI,SSMP, 0 737 chr21 19936280 19936281 rs138123929 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19936294 19936295 rs547824087 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19936297 19936298 rs779093121 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19936301 19936302 rs749837214 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19936303 19936304 rs369865826 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19936311 19936312 rs566357297 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19936312 19936313 rs533483377 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 737 chr21 19936318 19936319 rs374623625 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19936349 19936350 rs756602765 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 DDI, 0 737 chr21 19936368 19936369 rs551932706 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19936373 19936374 rs564971785 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19936390 19936391 rs577741421 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19936411 19936412 rs138591117 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4949.000000,59.000000, 0.988219,0.011781, 737 chr21 19936468 19936469 rs567823646 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19936471 19936472 rs535073848 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19936497 19936498 rs771528149 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19936520 19936521 rs527336766 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19936552 19936553 rs553535237 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19936564 19936565 rs141605790 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19936566 19936567 rs183674385 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 3 1000GENOMES,EVA-GONL,SSMP, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19936582 19936583 rs9754143 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.127599 0.217986 intron exact 1 MixedObserved 15 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 343.000000,4665.000000, 0.068490,0.931510, maf-5-some-pop 737 chr21 19936582 19936583 rs112975919 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 1 BUSHMAN, 1 -, 2.000000, 1.000000, 737 chr21 19936591 19936592 rs576278402 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19936626 19936627 rs543647927 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19936657 19936658 rs148568584 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19936675 19936676 rs529453180 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19936751 19936752 rs34949222 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 3 1000GENOMES,ABI,WEILL_CORNELL_DGM, 2 C,T, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19936757 19936758 rs780139988 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19936769 19936770 rs34177760 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 3 1000GENOMES,ABI,WEILL_CORNELL_DGM, 2 C,T, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19936783 19936784 rs150705247 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19936795 19936796 rs111822953 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.054348 0.155628 intron exact 1 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 140.000000,4868.000000, 0.027955,0.972045, maf-5-some-pop 737 chr21 19936812 19936813 rs775611595 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19936831 19936832 rs549394400 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19936858 19936859 rs141014002 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19936876 19936877 rs144627265 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.068189 0.171594 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 177.000000,4831.000000, 0.035343,0.964657, maf-5-some-pop 737 chr21 19936890 19936891 rs187654313 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19936959 19936960 rs567813291 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19936974 19936975 rs117660954 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4986.000000,22.000000, 0.995607,0.004393, 737 chr21 19937007 19937008 rs760467883 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19937014 19937015 rs6517816 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 0.000000,5008.000000, 0.000000,1.000000, 737 chr21 19937041 19937042 rs3991010 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 6 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19937043 19937044 rs147864446 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19937072 19937073 rs557723011 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937079 19937080 rs374870022 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BILGI_BIOE,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19937088 19937089 rs537236248 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937094 19937095 rs555626454 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937129 19937129 rs768506471 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 737 chr21 19937140 19937141 rs557682084 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19937169 19937170 rs112944483 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 4842.000000,166.000000, 0.966853,0.033147, maf-5-some-pop 737 chr21 19937189 19937204 rs776532729 0 + AATGATGCCTGTTGG AATGATGCCTGTTGG -/AATGATGCCTGTTGG genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 737 chr21 19937191 19937192 rs541130119 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937196 19937197 rs559818036 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19937240 19937241 rs548102242 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937248 19937249 rs373071448 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19937262 19937263 rs191576177 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19937267 19937268 rs111233894 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4841.000000,167.000000, 0.966653,0.033347, maf-5-some-pop 737 chr21 19937268 19937269 rs183140868 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,SSMP, 0 737 chr21 19937278 19937279 rs141671824 0 + T T A/T genomic single by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 A,T, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19937279 19937280 rs549144561 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19937290 19937291 rs561182143 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937307 19937308 rs754548376 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19937324 19937325 rs371010562 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19937325 19937326 rs767023350 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19937353 19937354 rs3991011 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19937380 19937381 rs187111383 0 + T T C/T genomic single by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 1 1000GENOMES, 2 C,T, 25.000000,4983.000000, 0.004992,0.995008, 737 chr21 19937388 19937389 rs145240441 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 737 chr21 19937414 19937415 rs113590125 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,G, 4848.000000,160.000000, 0.968051,0.031949, maf-5-some-pop 737 chr21 19937415 19937416 rs191657807 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19937431 19937432 rs143545087 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19937452 19937453 rs749970700 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19937472 19937473 rs868203731 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19937473 19937473 rs34346860 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19937482 19937482 rs575209924 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 2 1000GENOMES,SSIP, 2 -,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19937512 19937513 rs537375147 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,T, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19937517 19937518 rs555713898 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937544 19937545 rs573849617 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937554 19937555 rs200223840 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19937563 19937564 rs534818382 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937584 19937585 rs2824915 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.481396 0.094634 intron exact 1 18 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,C, 2021.000000,2987.000000, 0.403554,0.596446, maf-5-some-pop,maf-5-all-pops 737 chr21 19937606 19937607 rs578078260 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937626 19937627 rs554262458 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19937631 19937632 rs112902664 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055478 0.157039 intron exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 143.000000,4865.000000, 0.028554,0.971446, maf-5-some-pop 737 chr21 19937654 19937655 rs563370784 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937669 19937670 rs182745443 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19937703 19937704 rs542880608 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937740 19937741 rs1735781 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,SC_JCM,WEILL_CORNELL_DGM, 2 G,T, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19937745 19937746 rs57808074 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 5 1000GENOMES,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 30.000000,4978.000000, 0.005990,0.994010, 737 chr21 19937806 19937807 rs187431322 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19937813 19937814 rs373891404 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 SSMP,WEILL_CORNELL_DGM, 0 737 chr21 19937834 19937835 rs1617125 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.168135 0.236216 intron exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,SC_JCM,SEQUENOM,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4544.000000,464.000000, 0.907348,0.092652, maf-5-some-pop 737 chr21 19937846 19937847 rs372168017 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19937847 19937848 rs150752372 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.119978 0.213528 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,SSMP,WEILL_CORNELL_DGM, 2 A,G, 321.000000,4687.000000, 0.064097,0.935903, maf-5-some-pop 737 chr21 19937870 19937871 rs551377749 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19937871 19937872 rs569632717 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937873 19937874 rs756673373 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19937878 19937879 rs192723060 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937890 19937891 rs549250292 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937943 19937944 rs567574040 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19937945 19937946 rs17700441 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM, 2 A,C, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 737 chr21 19937962 19937963 rs545327433 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19937966 19937967 rs117734985 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 8 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 58.000000,4950.000000, 0.011582,0.988419, 737 chr21 19937968 19937969 rs768855245 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19937985 19937986 rs773002576 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19937987 19937988 rs368395223 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19937991 19937992 rs571629483 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19937992 19937993 rs762795075 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938044 19938045 rs1618818 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.162581 0.234218 intron exact 1 13 1000GENOMES,ABI,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 447.000000,4561.000000, 0.089257,0.910743, maf-5-some-pop 737 chr21 19938050 19938051 rs185516203 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938125 19938126 rs9974499 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.064469 0.167566 intron exact 1 6 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4841.000000,167.000000, 0.966653,0.033347, maf-5-some-pop 737 chr21 19938126 19938127 rs376755028 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 737 chr21 19938140 19938141 rs2739309 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.162909 0.23434 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 11 1000GENOMES,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4560.000000,448.000000, 0.910543,0.089457, maf-5-some-pop 737 chr21 19938141 19938142 rs2739310 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.162909 0.23434 intron exact 1 MixedObserved 12 1000GENOMES,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4560.000000,448.000000, 0.910543,0.089457, maf-5-some-pop 737 chr21 19938141 19938142 rs377650734 0 + C C CC/TT genomic mnp unknown 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger,ObservedMismatch 1 ABI, 0 737 chr21 19938146 19938147 rs573524348 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19938147 19938148 rs141024615 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 160.000000,4848.000000, 0.031949,0.968051, maf-5-some-pop 737 chr21 19938191 19938192 rs1740150 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.162909 0.23434 intron exact 1 14 1000GENOMES,ABI,BUSHMAN,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4560.000000,448.000000, 0.910543,0.089457, maf-5-some-pop 737 chr21 19938197 19938198 rs569110341 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19938227 19938228 rs531844482 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19938239 19938240 rs545095694 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19938254 19938255 rs144900444 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19938275 19938276 rs1740151 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 9 1000GENOMES,ABI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 G,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19938290 19938291 rs549037962 0 + C C A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938326 19938327 rs1740152 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 7 1000GENOMES,ABI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_JCM,WEILL_CORNELL_DGM, 2 G,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19938334 19938335 rs528413525 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19938354 19938355 rs9981014 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 6 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 737 chr21 19938355 19938356 rs527912117 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19938361 19938362 rs200714914 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19938418 19938419 rs571386746 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938433 19938434 rs9978226 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 4 1000GENOMES,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 737 chr21 19938457 19938458 rs190819679 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938462 19938463 rs747052249 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938485 19938486 rs191995000 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19938516 19938517 rs780179888 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19938534 19938535 rs536239056 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19938577 19938578 rs554593056 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19938578 19938579 rs573439138 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19938579 19938580 rs768604103 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938581 19938582 rs540884385 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938583 19938584 rs776904703 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938614 19938615 rs9978682 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 6 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 4842.000000,166.000000, 0.966853,0.033147, maf-5-some-pop 737 chr21 19938628 19938629 rs747008947 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19938654 19938655 rs13047977 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.481627 0.094069 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 2984.000000,2024.000000, 0.595847,0.404153, maf-5-some-pop,maf-5-all-pops 737 chr21 19938684 19938685 rs544827930 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938692 19938693 rs770762468 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938712 19938713 rs563362195 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938716 19938717 rs534227741 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19938722 19938723 rs369190890 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19938723 19938723 rs751462702 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938747 19938748 rs774083839 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938748 19938749 rs530670259 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19938750 19938751 rs759424838 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938751 19938752 rs771979690 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938766 19938766 rs776440454 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA_DECODE, 0 737 chr21 19938778 19938779 rs73312323 0 + C C A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.058232 0.160942 intron exact 1 SingleClassTriAllelic 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 3 A,C,G, 11.000000,4858.000000,139.000000, 0.002196,0.970048,0.027756, maf-5-some-pop,maf-5-all-pops 737 chr21 19938807 19938808 rs528091235 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19938834 19938835 rs760294505 0 + C C A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938835 19938836 rs567789464 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19938838 19938839 rs140967393 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19938847 19938848 rs753590180 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938850 19938851 rs149931055 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19938863 19938864 rs146477736 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19938913 19938914 rs761503658 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19938955 19938956 rs184223520 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19938958 19938959 rs536379028 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19938966 19938967 rs199579074 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19939004 19939005 rs548406564 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19939020 19939021 rs9978728 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 737 chr21 19939021 19939022 rs533941457 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939035 19939036 rs141128787 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN,WEILL_CORNELL_DGM, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19939061 19939062 rs577650442 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939093 19939094 rs189025886 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19939120 19939121 rs113658960 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 737 chr21 19939122 19939123 rs762658898 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19939131 19939132 rs752005096 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19939158 19939159 rs755089102 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19939163 19939164 rs575394340 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19939166 19939167 rs542710554 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939191 19939192 rs560841901 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19939206 19939207 rs181040694 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19939244 19939245 rs115547155 0 + G G A/G genomic single by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 1 1000GENOMES, 2 A,G, 24.000000,4984.000000, 0.004792,0.995208, maf-5-some-pop 737 chr21 19939264 19939265 rs1735782 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 5 1000GENOMES,ABI,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 32.000000,4976.000000, 0.006390,0.993610, 737 chr21 19939289 19939292 rs113653999 0 + TTG TTG -/TTG genomic deletion by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron range 1 5 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TTG, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 737 chr21 19939300 19939301 rs532321936 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19939345 19939346 rs113107171 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19939364 19939365 rs562380427 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939459 19939460 rs529858691 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19939471 19939472 rs548614953 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939473 19939474 rs111802140 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 737 chr21 19939477 19939478 rs566859241 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19939503 19939504 rs369599960 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19939565 19939566 rs186596365 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939600 19939601 rs571136181 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19939605 19939606 rs747790046 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19939609 19939610 rs35132814 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 737 chr21 19939611 19939612 rs189145428 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939613 19939614 rs138746288 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 4987.000000,21.000000, 0.995807,0.004193, 737 chr21 19939618 19939619 rs781227608 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19939652 19939653 rs181086342 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,GMI,JMKIDD_LAB, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19939675 19939676 rs576315571 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19939709 19939710 rs2776088 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050948 0.151255 intron exact 1 7 1000GENOMES,EVA-GONL,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,WEILL_CORNELL_DGM, 2 C,T, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19939714 19939715 rs572894699 0 + C C C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 4990.000000,18.000000, 0.996406,0.003594, 737 chr21 19939726 19939727 rs143441054 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19939747 19939748 rs115733804 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19939770 19939771 rs34551451 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 3 1000GENOMES,ABI,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19939783 19939784 rs544070041 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939819 19939820 rs761307138 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19939830 19939831 rs764658989 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19939879 19939880 rs562443780 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19939880 19939881 rs34313533 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron exact 1 5 1000GENOMES,ABI,HAMMER_LAB,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 A,G, 131.000000,4877.000000, 0.026158,0.973842, maf-5-some-pop 737 chr21 19939916 19939917 rs373318223 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19939917 19939918 rs541697311 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939954 19939955 rs191178046 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19939966 19939967 rs189011466 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 737 chr21 19939981 19939982 rs527810209 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19939986 19939987 rs571928178 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19939994 19939995 rs552528261 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940000 19940001 rs541059950 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 737 chr21 19940010 19940011 rs776309203 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 737 chr21 19940016 19940017 rs531761183 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4988.000000,20.000000, 0.996006,0.003994, 737 chr21 19940039 19940040 rs183419430 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19940085 19940086 rs200055067 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19940111 19940112 rs748391421 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19940113 19940114 rs193134122 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 737 chr21 19940114 19940115 rs550450639 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940120 19940121 rs568780695 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19940141 19940142 rs752618652 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 737 chr21 19940147 19940148 rs536040800 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19940161 19940162 rs182733782 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 737 chr21 19940177 19940178 rs185974183 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19940198 19940199 rs9975872 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 5 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 737 chr21 19940253 19940254 rs377530385 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 737 chr21 19940254 19940255 rs36119754 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 intron exact 1 6 1000GENOMES,ABI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 142.000000,4866.000000, 0.028355,0.971645, maf-5-some-pop 737 chr21 19940266 19940267 rs576378499 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940277 19940278 rs112746958 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19940290 19940291 rs566061312 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19940321 19940322 rs143197993 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 12.000000,4996.000000, 0.002396,0.997604, 737 chr21 19940332 19940333 rs574687993 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19940354 19940355 rs9983868 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.065959 0.169201 intron exact 1 5 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 171.000000,4837.000000, 0.034145,0.965855, maf-5-some-pop 737 chr21 19940386 19940387 rs560122815 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19940398 19940398 rs146605250 0 + - - -/GGGG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 737 chr21 19940402 19940403 rs374262741 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19940472 19940473 rs367861066 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19940475 19940476 rs527496862 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19940483 19940484 rs111806985 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,TISHKOFF, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940510 19940511 rs564574435 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19940515 19940516 rs73895643 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,G, 4983.000000,25.000000, 0.995008,0.004992, 737 chr21 19940516 19940517 rs550240717 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19940535 19940536 rs370639443 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19940545 19940546 rs2739311 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 6 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SC_JCM,WEILL_CORNELL_DGM, 2 C,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19940554 19940555 rs547957132 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940584 19940585 rs529746421 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19940615 19940616 rs757510969 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19940632 19940633 rs187663911 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 737 chr21 19940634 19940635 rs11088684 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.482534 0.091804 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 2036.000000,2972.000000, 0.406550,0.593450, maf-5-some-pop,maf-5-all-pops 737 chr21 19940635 19940636 rs144197805 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 49.000000,4959.000000, 0.009784,0.990216, 737 chr21 19940691 19940692 rs777195411 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19940711 19940712 rs191528397 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 737 chr21 19940724 19940725 rs562707208 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 737 chr21 19940735 19940736 rs558187154 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940738 19940739 rs182519412 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19940740 19940741 rs571520607 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19940764 19940765 rs537443966 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940776 19940777 rs188426599 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19940789 19940790 rs372450499 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19940836 19940837 rs142306577 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19940846 19940847 rs114800254 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.061108 0.163768 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4850.000000,158.000000, 0.968450,0.031549, maf-5-some-pop 737 chr21 19940904 19940905 rs146810986 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 737 chr21 19940907 19940908 rs572099209 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19940917 19940918 rs1735783 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 4 1000GENOMES,ABI,SC_JCM,WEILL_CORNELL_DGM, 2 C,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19940920 19940921 rs564563914 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19940925 19940926 rs758635176 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19940989 19940990 rs775568333 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19940996 19940997 rs192301253 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19941017 19941018 rs543819336 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19941018 19941019 rs182957314 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19941034 19941035 rs375779557 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19941035 19941036 rs529306120 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19941047 19941048 rs531809764 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 737 chr21 19941067 19941068 rs188707959 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19941093 19941094 rs560001406 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19941108 19941109 rs368770932 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19941140 19941141 rs372410393 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19941170 19941171 rs533350794 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 24.000000,4984.000000, 0.004792,0.995208, 737 chr21 19941185 19941186 rs375834413 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19941191 19941192 rs867033625 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19941194 19941195 rs551603210 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 67.000000,4941.000000, 0.013379,0.986621, 737 chr21 19941241 19941242 rs570189887 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19941262 19941263 rs537582352 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4941.000000,67.000000, 0.986621,0.013379, 737 chr21 19941280 19941281 rs55939221 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.298905 0.24517 intron exact 1 7 1000GENOMES,DDI,EVA_GENOME_DK,GMI,HGSV,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4092.000000,916.000000, 0.817093,0.182907, maf-5-some-pop 737 chr21 19941363 19941364 rs371494500 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19941380 19941381 rs567935095 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19941385 19941386 rs867374002 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19941408 19941409 rs7281367 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.324631 0.241582 intron exact 1 SingleClassTriAllelic 15 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,DDI,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,WEILL_CORNELL_DGM, 3 C,G,T, 3992.000000,15.000000,1001.000000, 0.797125,0.002995,0.199880, 737 chr21 19941409 19941410 rs572346856 0 + G G A/G genomic single by-frequency,by-1000genomes 0.045253 0.143452 intron exact 1 1 1000GENOMES, 2 A,G, 116.000000,4892.000000, 0.023163,0.976837, maf-5-some-pop 737 chr21 19941421 19941422 rs374977633 0 + T T A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.118235 0.212457 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,HAMMER_LAB,SSMP, 2 A,T, 316.000000,4692.000000, 0.063099,0.936901, maf-5-some-pop 737 chr21 19941432 19941433 rs571642817 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19941433 19941434 rs150298441 0 + C C C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19941434 19941435 rs192390672 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA-GONL, 0 737 chr21 19941460 19941461 rs567556624 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19941471 19941472 rs536712098 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19941492 19941493 rs184725248 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19941514 19941515 rs543893646 0 + A A A/T genomic single by-frequency,by-1000genomes 0.082906 0.185956 intron exact 1 1 1000GENOMES, 2 A,T, 4791.000000,217.000000, 0.956669,0.043331, maf-5-some-pop 737 chr21 19941537 19941538 rs562212721 0 + C C A/C genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 A,C, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19941544 19941545 rs7277273 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.037988 0.132479 intron exact 1 2 1000GENOMES,BCM_SSAHASNP, 2 C,T, 4911.000000,97.000000, 0.980631,0.019369, maf-5-some-pop 737 chr21 19941551 19941552 rs28459179 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.152001 0.229992 intron exact 1 5 1000GENOMES,EVA-GONL,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 415.000000,4593.000000, 0.082867,0.917133, maf-5-some-pop 737 chr21 19941563 19941564 rs559776015 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19941604 19941605 rs533494136 0 + A A A/G genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 737 chr21 19941610 19941612 rs386816776 0 + TG TG CA/TG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 737 chr21 19941610 19941611 rs551551967 0 + T T C/T genomic single by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 737 chr21 19941611 19941612 rs563501127 0 + G G A/G genomic single by-frequency,by-1000genomes 0.049053 0.14873 intron exact 1 1 1000GENOMES, 2 A,G, 126.000000,4882.000000, 0.025160,0.974840, maf-5-some-pop 737 chr21 19941620 19941621 rs748765128 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19941645 19941646 rs796824920 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 737 chr21 19941662 19941663 rs200930013 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.064842 0.167978 intron exact 1 5 1000GENOMES,EVA_GENOME_DK,GMI,SSMP,WEILL_CORNELL_DGM, 2 A,C, 168.000000,4840.000000, 0.033546,0.966454, maf-5-some-pop 737 chr21 19941673 19941674 rs376815178 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.049812 0.149749 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4880.000000,128.000000, 0.974441,0.025559, maf-5-some-pop 737 chr21 19941688 19941689 rs112425264 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BCM-HGSC-SUB, 0 737 chr21 19941727 19941728 rs568163443 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19941739 19941740 rs535089342 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19941743 19941744 rs547396110 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19941782 19941783 rs370063303 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19941803 19941804 rs565831020 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19941805 19941806 rs539782622 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19941806 19941807 rs28602382 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 737 chr21 19941820 19941821 rs201738366 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19941824 19941825 rs373543743 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19941830 19941831 rs184015204 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 MPI_MOLGEN, 0 737 chr21 19941848 19941848 rs34723809 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19941850 19941851 rs569841763 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA-GONL, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19941885 19941886 rs28479539 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 3 1000GENOMES,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 4844.000000,164.000000, 0.967252,0.032748, maf-5-some-pop 737 chr21 19941889 19941890 rs145901229 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19941927 19941928 rs555566457 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19941962 19941963 rs77487982 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19941963 19941964 rs112649418 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.071522 0.175059 intron exact 1 6 1000GENOMES,BUSHMAN,EVA-GONL,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 186.000000,4822.000000, 0.037141,0.962859, maf-5-some-pop 737 chr21 19941966 19941967 rs553374196 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19941988 19941989 rs192261431 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19941995 19941996 rs143263744 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 737 chr21 19942013 19942014 rs563660775 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19942014 19942015 rs1735784 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.5 0 intron exact 1 6 1000GENOMES,ABI,ENSEMBL,HAMMER_LAB,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 2.000000,2.000000, 0.500000,0.500000, 737 chr21 19942028 19942029 rs1735785 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.118235 0.212457 intron exact 1 9 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,EVA-GONL,HAMMER_LAB,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,C, 316.000000,4692.000000, 0.063099,0.936901, maf-5-some-pop 737 chr21 19942087 19942088 rs868304604 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19942108 19942109 rs747049812 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19942110 19942111 rs543239949 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19942111 19942112 rs375116121 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,DDI,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19942147 19942148 rs529030044 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19942259 19942260 rs534614012 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19942267 19942268 rs547067650 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19942320 19942321 rs377586010 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19942369 19942370 rs113377339 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BUSHMAN, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19942383 19942384 rs532958181 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19942405 19942406 rs554507629 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19942438 19942439 rs551670884 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 737 chr21 19942469 19942470 rs570003159 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19942487 19942488 rs537223927 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19942501 19942502 rs754929612 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19942516 19942517 rs150618541 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 737 chr21 19942578 19942579 rs112206883 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19942583 19942584 rs535078688 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19942592 19942593 rs370752451 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19942594 19942595 rs113835873 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,BUSHMAN, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19942609 19942610 rs577587063 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19942646 19942647 rs3929687 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 intron exact 1 9 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 4866.000000,142.000000, 0.971645,0.028355, maf-5-some-pop 737 chr21 19942649 19942650 rs867217009 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19942650 19942651 rs184766080 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19942663 19942664 rs189967566 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19942670 19942671 rs180811592 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19942689 19942690 rs7282504 0 + C C C/T genomic single by-cluster,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 3 BCM_SSAHASNP,ILLUMINA,KRIBB_YJKIM, 1 C, 244.000000, 1.000000, 737 chr21 19942704 19942705 rs2824916 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.459004 0.137176 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3221.000000,1787.000000, 0.643171,0.356829, maf-5-some-pop 737 chr21 19942710 19942711 rs528686212 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19942727 19942728 rs541072360 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19942732 19942733 rs117323988 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 25.000000,4983.000000, 0.004992,0.995008, 737 chr21 19942756 19942757 rs535228964 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19942767 19942768 rs374614136 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19942781 19942782 rs576213993 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19942818 19942819 rs572863954 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19942853 19942854 rs80340747 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 G,T, 4942.000000,66.000000, 0.986821,0.013179, maf-5-some-pop 737 chr21 19942854 19942855 rs1740153 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.051326 0.151752 intron exact 1 11 1000GENOMES,ABI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop 737 chr21 19942865 19942866 rs549018809 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19942886 19942887 rs567409637 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19942940 19942941 rs184321216 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 737 chr21 19942949 19942950 rs139710194 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19942969 19942970 rs571442348 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19942981 19942982 rs13433499 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 MixedObserved 4 1000GENOMES,BUSHMAN,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 737 chr21 19942981 19942981 rs35718170 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.491732 0.063763 intron between 1 MixedObserved 9 1000GENOMES,BILGI_BIOE,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,PJP,SSMP, 2 -,T, 2182.000000,2826.000000, 0.435703,0.564297, maf-5-some-pop,maf-5-all-pops 737 chr21 19942992 19942993 rs75923358 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 2 BGI,GMI, 0 737 chr21 19942992 19942992 rs397748491 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved,SingleAlleleFreq 3 ABI,GMI,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 737 chr21 19942994 19942995 rs556982675 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19942995 19942996 rs575521006 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19942998 19942999 rs188365443 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 737 chr21 19943032 19943033 rs141931992 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19943036 19943037 rs146346382 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19943037 19943038 rs371381923 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19943060 19943061 rs752156788 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943071 19943072 rs755430208 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943080 19943081 rs559472689 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19943085 19943086 rs577861867 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19943122 19943123 rs13433460 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074106 0.177655 intron exact 1 10 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4815.000000,193.000000, 0.961462,0.038538, maf-5-some-pop 737 chr21 19943131 19943132 rs1740154 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050569 0.150756 intron exact 1 13 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19943155 19943156 rs756343939 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943161 19943162 rs1569903 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.055101 0.156571 intron exact 1 11 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 4866.000000,142.000000, 0.971645,0.028355, maf-5-some-pop 737 chr21 19943162 19943163 rs145541079 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19943201 19943202 rs561042641 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19943202 19943203 rs148487899 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4857.000000,151.000000, 0.969848,0.030152, maf-5-some-pop 737 chr21 19943206 19943207 rs758258138 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943210 19943211 rs550316010 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19943213 19943214 rs371820470 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19943215 19943216 rs181766793 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19943216 19943217 rs746995093 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943220 19943221 rs186458326 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19943223 19943224 rs762378653 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19943232 19943233 rs776291538 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943247 19943248 rs142656558 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4985.000000,23.000000, 0.995407,0.004593, 737 chr21 19943249 19943250 rs750780446 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19943250 19943251 rs111490100 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 737 chr21 19943261 19943262 rs1735786 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.111576 0.20818 intron exact 1 15 1000GENOMES,ABI,BUSHMAN,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4711.000000,297.000000, 0.940695,0.059305, maf-5-some-pop 737 chr21 19943272 19943273 rs775881152 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943286 19943287 rs75766195 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 36.000000,4972.000000, 0.007188,0.992812, 737 chr21 19943299 19943300 rs555207586 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19943322 19943323 rs762490391 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943334 19943335 rs145767435 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19943339 19943340 rs766788488 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943410 19943411 rs774540207 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943411 19943412 rs1740155 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049433 0.149241 intron exact 1 10 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 127.000000,4881.000000, 0.025359,0.974641, maf-5-some-pop 737 chr21 19943461 19943462 rs147809197 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19943467 19943468 rs534953890 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19943577 19943578 rs554916998 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19943579 19943580 rs200963492 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.094137 0.195465 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,GMI,LUNTER,SSMP, 2 -,T, 248.000000,4760.000000, 0.049521,0.950479, maf-5-some-pop 737 chr21 19943585 19943586 rs574395366 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943591 19943592 rs563395058 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19943592 19943593 rs141178860 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19943599 19943600 rs147093144 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19943650 19943651 rs138252260 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19943659 19943660 rs149186865 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 737 chr21 19943664 19943665 rs766537867 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19943679 19943680 rs546380029 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19943694 19943695 rs77563578 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron exact 1 4 1000GENOMES,EVA_DECODE,GMI,JMKIDD_LAB, 2 C,T, 44.000000,4964.000000, 0.008786,0.991214, maf-5-some-pop 737 chr21 19943739 19943740 rs756256194 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19943769 19943770 rs532176793 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19943901 19943902 rs73895644 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19943908 19943909 rs536615292 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19943912 19943913 rs190587351 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19943931 19943932 rs754984427 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19943972 19943973 rs35699730 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 6 1000GENOMES,ABI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 737 chr21 19943975 19943976 rs369605726 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19943976 19943977 rs779575261 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 737 chr21 19943992 19943993 rs548342859 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19944009 19944010 rs781240012 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19944015 19944016 rs182181947 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944018 19944019 rs534455860 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19944032 19944033 rs556645792 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944045 19944046 rs576481697 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19944047 19944048 rs186260406 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19944111 19944112 rs571030633 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19944119 19944120 rs538458874 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944131 19944132 rs867281159 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19944137 19944138 rs756053964 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19944139 19944140 rs34895433 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 4 1000GENOMES,ABI,ENSEMBL,WEILL_CORNELL_DGM, 2 G,T, 164.000000,4844.000000, 0.032748,0.967252, maf-5-some-pop 737 chr21 19944153 19944154 rs779899177 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944178 19944179 rs565513014 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19944193 19944194 rs568791155 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19944222 19944223 rs141989337 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944225 19944226 rs377740246 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19944233 19944272 rs760858430 0 + TCTAAAATATGCAAACATATTTAAAATGATTAAAGCTGC TCTAAAATATGCAAACATATTTAAAATGATTAAAGCTGC lengthTooLong genomic in-del by-cluster 0 0 intron range 1 ObservedTooLong 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944247 19944248 rs1615385 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.398534 0.201091 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1376.000000,3632.000000, 0.274760,0.725240, maf-5-some-pop,maf-5-all-pops 737 chr21 19944276 19944279 rs773463432 0 + TGA TGA -/TGA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944296 19944297 rs146290445 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_DECODE,ILLUMINA, 2 A,G, 4998.000000,10.000000, 0.998003,0.001997, 737 chr21 19944306 19944307 rs540089194 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19944348 19944349 rs373149651 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19944379 19944380 rs138323114 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944381 19944381 rs571697497 0 + - - -/AG genomic insertion by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron between 1 5 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AG, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19944382 19944383 rs544033158 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19944383 19944384 rs562975428 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944394 19944395 rs191554445 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944424 19944425 rs76715577 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 31.000000,4977.000000, 0.006190,0.993810, 737 chr21 19944467 19944468 rs150776055 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19944470 19944471 rs781343850 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944482 19944483 rs527711023 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19944493 19944494 rs1735787 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.111224 0.207945 intron exact 1 15 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,ENSEMBL,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 296.000000,4712.000000, 0.059105,0.940895, maf-5-some-pop 737 chr21 19944515 19944516 rs183099901 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19944521 19944523 rs375087287 0 + AG AG -/AG genomic deletion by-cluster 0 0 intron range 1 1 LUNTER, 0 737 chr21 19944527 19944528 rs538420119 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19944531 19944532 rs748586256 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 737 chr21 19944540 19944541 rs377454786 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19944558 19944559 rs556527119 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944575 19944576 rs139166672 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 67.000000,4941.000000, 0.013379,0.986621, 737 chr21 19944581 19944582 rs748065360 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944585 19944586 rs868859847 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19944587 19944588 rs535926162 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944592 19944593 rs769394728 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944599 19944600 rs554650666 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19944626 19944627 rs572476819 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944639 19944640 rs56859670 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 737 chr21 19944647 19944648 rs558412497 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19944656 19944657 rs187692620 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19944660 19944661 rs770423697 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944661 19944662 rs543996033 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944687 19944688 rs79549808 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19944692 19944693 rs537404941 0 + A A A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19944705 19944706 rs529903986 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19944725 19944726 rs541932388 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944725 19944725 rs545785300 0 + - - -/T genomic insertion unknown 0 0 intron between 1 MixedObserved 1 SSIP, 0 737 chr21 19944846 19944847 rs560651499 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA_DECODE, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19944865 19944866 rs144195903 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19944868 19944869 rs374133219 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19944912 19944913 rs189752387 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19944916 19944917 rs183205212 0 + A A A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,C, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19944925 19944926 rs140604120 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19944950 19944951 rs187952238 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19944954 19944955 rs563672224 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19944983 19944984 rs776019588 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19944990 19944991 rs568512185 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19945000 19945001 rs13433393 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.064096 0.167152 intron exact 1 5 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 4842.000000,166.000000, 0.966853,0.033147, maf-5-some-pop 737 chr21 19945013 19945014 rs866110365 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19945027 19945028 rs536206452 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19945041 19945042 rs192011542 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19945043 19945044 rs185434367 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 13.000000,4995.000000, 0.002596,0.997404, 737 chr21 19945044 19945045 rs533520663 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19945045 19945046 rs147763337 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19945056 19945057 rs62216003 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.218151 0.247963 intron exact 1 13 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4384.000000,624.000000, 0.875399,0.124601, maf-5-some-pop 737 chr21 19945057 19945058 rs537706193 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19945058 19945059 rs765433512 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945084 19945085 rs557422399 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,G, 4986.000000,22.000000, 0.995607,0.004393, 737 chr21 19945129 19945130 rs796195359 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 737 chr21 19945148 19945149 rs188444134 0 + A A A/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945156 19945157 rs1740156 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050191 0.150254 intron exact 1 12 1000GENOMES,ABI,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 129.000000,4879.000000, 0.025759,0.974241, maf-5-some-pop 737 chr21 19945177 19945178 rs781111200 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945181 19945182 rs542043572 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945195 19945209 rs537186650 0 + TATAAGTCAGAACA TATAAGTCAGAACA -/TATAAGTCAGAACA genomic deletion by-frequency,by-1000genomes 0.000798 0.019964 intron range 1 1 1000GENOMES, 2 -,TATAAGTCAGAACA, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19945219 19945220 rs752703634 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945220 19945221 rs370842044 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19945240 19945241 rs755965005 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945276 19945277 rs1735788 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.401924 0.198543 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3613.000000,1395.000000, 0.721446,0.278554, maf-5-some-pop,maf-5-all-pops 737 chr21 19945277 19945278 rs141243534 0 + G G A/G genomic single by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 2 A,G, 26.000000,4982.000000, 0.005192,0.994808, 737 chr21 19945338 19945339 rs192853769 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19945339 19945340 rs564432620 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19945344 19945344 rs201868366 0 + - - -/T genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 737 chr21 19945345 19945346 rs745491399 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945348 19945348 rs35777322 0 + - - -/C genomic insertion by-cluster,by-frequency,by-1000genomes 0.126564 0.217402 intron between 1 8 1000GENOMES,ABI,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,C, 4668.000000,340.000000, 0.932109,0.067891, maf-5-some-pop 737 chr21 19945351 19945352 rs184775846 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19945362 19945363 rs772478105 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945381 19945382 rs577388549 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19945390 19945391 rs775786685 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 737 chr21 19945425 19945426 rs188115146 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19945439 19945440 rs761170928 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945479 19945480 rs142580478 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19945485 19945486 rs768982700 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945489 19945489 rs763907550 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945492 19945493 rs150951509 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945495 19945496 rs75648659 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945559 19945560 rs566224605 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945580 19945581 rs368565966 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19945586 19945587 rs117783854 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 G,T, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19945593 19945594 rs777179878 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945621 19945622 rs761862873 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945628 19945629 rs577846224 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19945639 19945640 rs551861974 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945653 19945654 rs181007745 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945654 19945655 rs367849215 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 737 chr21 19945675 19945676 rs371947522 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19945685 19945686 rs78894422 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19945732 19945733 rs556170174 0 + A A A/T genomic single by-frequency,by-1000genomes 0.013486 0.081001 intron exact 1 1 1000GENOMES, 2 A,T, 4974.000000,34.000000, 0.993211,0.006789, 737 chr21 19945733 19945733 rs35836742 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.473266 0.112482 intron between 1 16 1000GENOMES,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 1925.000000,3083.000000, 0.384385,0.615615, maf-5-some-pop,maf-5-all-pops 737 chr21 19945737 19945737 rs397704973 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 2 ABI,HUMANGENOME_JCVI, 1 T, 2.000000, 1.000000, 737 chr21 19945753 19945754 rs574705018 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19945760 19945761 rs2091990 0 + T T C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,ABI,SC_JCM,TSC-CSHL, 2 C,T, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19945768 19945769 rs554050674 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945776 19945777 rs568224122 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,EVA-GONL, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19945792 19945793 rs546272383 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945831 19945832 rs767451966 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945878 19945879 rs564592406 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19945900 19945901 rs752474497 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945901 19945902 rs150242716 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19945906 19945907 rs777630328 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19945917 19945918 rs11909811 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.065214 0.168387 intron exact 1 7 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 169.000000,4839.000000, 0.033746,0.966254, maf-5-some-pop 737 chr21 19945926 19945927 rs562220671 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19945932 19945933 rs184900606 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19946055 19946056 rs556585074 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19946060 19946061 rs541254097 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19946070 19946071 rs767631607 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19946089 19946090 rs559476085 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19946106 19946107 rs778376511 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946109 19946110 rs78204853 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 165.000000,4843.000000, 0.032947,0.967053, maf-5-some-pop 737 chr21 19946130 19946131 rs78365496 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19946139 19946140 rs570249352 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19946140 19946141 rs531186663 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19946158 19946159 rs73312340 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039522 0.134904 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 101.000000,4907.000000, 0.020168,0.979832, maf-5-some-pop 737 chr21 19946167 19946168 rs189575133 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19946183 19946184 rs552768266 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19946210 19946211 rs780407206 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946221 19946222 rs747388032 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946240 19946241 rs535701220 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19946263 19946264 rs144273572 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 3 1000GENOMES,LUNTER,TISHKOFF, 2 -,A, 43.000000,4965.000000, 0.008586,0.991414, 737 chr21 19946274 19946275 rs9808744 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 6 1000GENOMES,BCM_SSAHASNP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4844.000000,164.000000, 0.967252,0.032748, maf-5-some-pop 737 chr21 19946297 19946298 rs539592912 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19946320 19946321 rs565850029 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19946326 19946327 rs181672733 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19946327 19946328 rs572619117 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946336 19946337 rs186833189 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19946338 19946339 rs576505799 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19946339 19946340 rs543446063 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19946360 19946361 rs555769864 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19946375 19946376 rs777042079 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946378 19946379 rs573956727 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19946388 19946389 rs762358212 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946395 19946396 rs542960917 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19946399 19946400 rs140692659 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19946402 19946403 rs8130967 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.483852 0.088393 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 2954.000000,2054.000000, 0.589856,0.410144, maf-5-some-pop,maf-5-all-pops 737 chr21 19946435 19946436 rs773385684 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946464 19946465 rs866524043 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19946509 19946509 rs555250296 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 EVA-GONL, 0 737 chr21 19946548 19946549 rs533337197 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19946576 19946577 rs376599286 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19946577 19946578 rs112377503 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 6 1000GENOMES,BUSHMAN,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19946595 19946596 rs867640401 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19946642 19946643 rs531475977 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19946648 19946649 rs181129887 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19946649 19946650 rs185631798 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19946673 19946674 rs763920616 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946703 19946704 rs145650008 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024454 0.107838 intron exact 1 5 1000GENOMES,EVA_DECODE,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4946.000000,62.000000, 0.987620,0.012380, maf-5-some-pop 737 chr21 19946704 19946705 rs138184898 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4857.000000,151.000000, 0.969848,0.030152, maf-5-some-pop 737 chr21 19946719 19946720 rs553443616 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19946724 19946725 rs539618722 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19946729 19946730 rs757174090 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19946806 19946807 rs558027514 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19946808 19946809 rs570040616 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19946835 19946836 rs537510483 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19946900 19946901 rs555603347 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947061 19947062 rs2406461 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.484066 0.087823 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 2951.000000,2057.000000, 0.589257,0.410743, maf-5-some-pop,maf-5-all-pops 737 chr21 19947097 19947098 rs74805209 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 43.000000,4965.000000, 0.008586,0.991414, 737 chr21 19947104 19947105 rs374636791 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19947126 19947127 rs553231710 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947175 19947176 rs144301857 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.022895 0.104514 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 58.000000,4950.000000, 0.011582,0.988419, 737 chr21 19947223 19947224 rs1740157 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.126219 0.217206 intron exact 1 10 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4669.000000,339.000000, 0.932308,0.067692, maf-5-some-pop 737 chr21 19947251 19947252 rs563865691 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947275 19947276 rs575753747 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947335 19947336 rs546301711 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19947360 19947361 rs781569606 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947361 19947362 rs148324674 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 19.000000,4989.000000, 0.003794,0.996206, 737 chr21 19947366 19947367 rs561643133 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947374 19947375 rs141757532 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19947375 19947376 rs770358883 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947377 19947378 rs773439104 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947387 19947388 rs547443513 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19947407 19947408 rs75283358 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19947426 19947427 rs533303462 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947434 19947435 rs771101334 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947467 19947468 rs774501375 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947478 19947479 rs551394474 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19947489 19947490 rs569806505 0 + G G G/T genomic single by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 1 1000GENOMES, 2 G,T, 4998.000000,10.000000, 0.998003,0.001997, 737 chr21 19947490 19947491 rs759787728 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947502 19947503 rs764249168 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 EVA_GENOME_DK, 0 737 chr21 19947502 19947502 rs557887579 0 + - - -/T/TTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.183993 0.249302 intron between 1 MixedObserved 2 1000GENOMES,SSIP, 3 -,T,TTT, 4504.000000,414.000000,90.000000, 0.899361,0.082668,0.017971, 737 chr21 19947505 19947506 rs536869669 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19947513 19947514 rs376570972 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19947515 19947516 rs76890991 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19947563 19947565 rs367759000 0 + TA TA -/TA genomic deletion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 2 1000GENOMES,SSMP, 2 -,TA, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19947585 19947586 rs376117493 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_DECODE,TISHKOFF, 0 737 chr21 19947586 19947587 rs567685176 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947592 19947593 rs367674227 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,SSIP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4994.000000,14.000000, 0.997204,0.002796, 737 chr21 19947595 19947596 rs552990386 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947620 19947621 rs577626611 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19947622 19947623 rs538900525 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19947624 19947625 rs370431730 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 0 737 chr21 19947625 19947626 rs557390529 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947631 19947632 rs150552287 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19947656 19947657 rs8132023 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.065214 0.168387 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4839.000000,169.000000, 0.966254,0.033746, maf-5-some-pop 737 chr21 19947657 19947658 rs189701796 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947688 19947689 rs573824804 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947691 19947692 rs541014682 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19947692 19947693 rs773699318 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19947721 19947722 rs144477704 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19947722 19947723 rs532958217 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947735 19947736 rs147426615 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19947736 19947737 rs542033265 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19947742 19947743 rs34316800 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.229136 0.249128 intron exact 1 15 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4347.000000,661.000000, 0.868011,0.131989, maf-5-some-pop 737 chr21 19947743 19947744 rs530712474 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19947751 19947752 rs548955624 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19947785 19947786 rs149877229 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,GMI,JMKIDD_LAB, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19947792 19947793 rs1740158 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.403684 0.197183 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1405.000000,3603.000000, 0.280551,0.719449, maf-5-some-pop,maf-5-all-pops 737 chr21 19947808 19947809 rs114341978 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.062604 0.165477 intron exact 1 5 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4846.000000,162.000000, 0.967652,0.032348, maf-5-some-pop 737 chr21 19947809 19947810 rs571280246 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947832 19947833 rs144968869 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4853.000000,155.000000, 0.969050,0.030950, maf-5-some-pop 737 chr21 19947833 19947834 rs148627332 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19947843 19947844 rs116415769 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 4965.000000,43.000000, 0.991414,0.008586, 737 chr21 19947903 19947904 rs536849468 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19947915 19947916 rs748496843 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947937 19947938 rs142405543 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4857.000000,151.000000, 0.969848,0.030152, maf-5-some-pop 737 chr21 19947959 19947960 rs182299110 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19947959 19947960 rs550669438 0 + G G -/G genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 1 1000GENOMES, 2 -,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19947966 19947967 rs187713790 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19947968 19947969 rs778462298 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19947975 19947976 rs11088685 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.473081 0.112848 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3085.000000,1923.000000, 0.616014,0.383986, maf-5-some-pop,maf-5-all-pops 737 chr21 19947982 19947983 rs146838901 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19947983 19947984 rs192154230 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19948076 19948077 rs753880867 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19948110 19948111 rs563598354 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948112 19948113 rs140726520 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19948129 19948130 rs542917893 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19948138 19948139 rs1735789 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.4021 0.198407 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1396.000000,3612.000000, 0.278754,0.721246, maf-5-some-pop,maf-5-all-pops 737 chr21 19948167 19948168 rs183978715 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19948172 19948173 rs7275344 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 9 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 165.000000,4843.000000, 0.032947,0.967053, maf-5-some-pop 737 chr21 19948192 19948193 rs571440392 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948198 19948199 rs532515238 0 + G G A/G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19948217 19948218 rs550744500 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948219 19948220 rs569521381 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19948228 19948229 rs866727337 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19948231 19948232 rs75352506 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19948232 19948233 rs775556640 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19948262 19948263 rs536501537 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948307 19948308 rs188466941 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19948318 19948319 rs75256848 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19948334 19948335 rs113304879 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948352 19948353 rs112130000 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 A, 1.000000, 1.000000, 737 chr21 19948379 19948380 rs773194520 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19948410 19948411 rs553083575 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948434 19948435 rs145914610 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19948441 19948442 rs557660799 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948443 19948444 rs556644782 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948460 19948461 rs577326643 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19948479 19948480 rs192917729 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19948485 19948486 rs542529843 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948486 19948487 rs751040847 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19948490 19948491 rs146629924 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948507 19948508 rs141267953 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948524 19948525 rs112746364 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19948556 19948557 rs540065465 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948593 19948594 rs184838282 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,G, 20.000000,4988.000000, 0.003994,0.996006, 737 chr21 19948625 19948626 rs532538523 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948642 19948643 rs551060641 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948655 19948656 rs559800774 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19948657 19948658 rs569107772 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19948662 19948663 rs201797891 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.01781 0.09267 intron exact 1 2 1000GENOMES,EVA-GONL, 2 -,T, 45.000000,4963.000000, 0.008986,0.991014, 737 chr21 19948666 19948667 rs1740159 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.311614 0.242289 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 4041.000000,967.000000, 0.806909,0.193091, maf-5-some-pop 737 chr21 19948668 19948669 rs548864433 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19948679 19948680 rs561578924 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19948690 19948691 rs2205489 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05397 0.155153 intron exact 1 13 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 139.000000,4869.000000, 0.027756,0.972244, maf-5-some-pop 737 chr21 19948729 19948730 rs367571555 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19948757 19948758 rs559239161 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19948760 19948761 rs7276203 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.470908 0.117046 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3108.000000,1900.000000, 0.620607,0.379393, maf-5-some-pop,maf-5-all-pops 737 chr21 19948778 19948779 rs538309021 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19948788 19948789 rs564002341 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19948793 19948794 rs532948230 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948809 19948810 rs575099119 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19948813 19948814 rs536277725 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19948818 19948819 rs780549647 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19948825 19948826 rs749842178 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19948869 19948870 rs561617459 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19948871 19948872 rs187330785 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19948881 19948882 rs572848604 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19948882 19948883 rs150191430 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19948900 19948901 rs745907387 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19948902 19948903 rs369185338 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19948918 19948919 rs57275567 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 5 1000GENOMES,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 10.000000,4998.000000, 0.001997,0.998003, 737 chr21 19949027 19949028 rs576968901 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19949032 19949033 rs544348965 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19949102 19949103 rs772017955 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949111 19949112 rs1740160 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.126564 0.217402 intron exact 1 13 1000GENOMES,ABI,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SC_JCM,SSAHASNP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 340.000000,4668.000000, 0.067891,0.932109, maf-5-some-pop 737 chr21 19949112 19949113 rs530022177 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19949180 19949181 rs747221543 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949193 19949194 rs868055017 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19949229 19949230 rs183919345 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19949240 19949241 rs772926671 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949255 19949256 rs75774812 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 C,T, 67.000000,4941.000000, 0.013379,0.986621, maf-5-some-pop 737 chr21 19949332 19949333 rs527952658 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949333 19949334 rs774727292 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19949347 19949348 rs552907612 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949352 19949353 rs762910288 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949358 19949359 rs188343530 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19949391 19949392 rs193208301 0 + A A A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949397 19949398 rs185596012 0 + G G G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA-GONL, 0 737 chr21 19949412 19949413 rs138816045 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,JMKIDD_LAB,TISHKOFF, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19949414 19949415 rs367994923 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,SSMP, 0 737 chr21 19949425 19949426 rs538449779 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949430 19949431 rs149368988 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19949503 19949504 rs568960169 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949509 19949510 rs535841091 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949542 19949543 rs554184030 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19949568 19949569 rs572514973 0 + G G G/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19949603 19949604 rs374416183 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19949641 19949642 rs533787436 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,PADH-LAB_SPU, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19949656 19949657 rs752454027 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949664 19949664 rs34909028 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.126564 0.217402 intron between 1 8 1000GENOMES,ABI,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF, 2 -,T, 4668.000000,340.000000, 0.932109,0.067891, maf-5-some-pop 737 chr21 19949668 19949669 rs558833954 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 C,G, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19949682 19949682 rs34381087 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19949689 19949690 rs1735791 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.373397 0.217424 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 1244.000000,3764.000000, 0.248403,0.751597, maf-5-some-pop,maf-5-all-pops 737 chr21 19949692 19949693 rs377065155 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19949695 19949696 rs143138323 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949763 19949764 rs764554690 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949803 19949806 rs796460828 0 + AAG AAG -/AAG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 0 maf-5-some-pop 737 chr21 19949806 19949809 rs34795782 0 + AAG AAG -/AAG genomic deletion by-cluster,by-frequency 0.050948 0.151255 intron range 1 2 ABI,TISHKOFF, 2 -,AAG, 131.000000,4877.000000, 0.026158,0.973842, 737 chr21 19949816 19949817 rs562840752 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19949839 19949840 rs112944201 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19949846 19949847 rs370212013 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19949851 19949852 rs111502425 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19949890 19949891 rs754211870 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19949911 19949912 rs138861341 0 + C C C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4997.000000,11.000000, 0.997804,0.002196, 737 chr21 19949971 19949972 rs560478826 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949987 19949988 rs775715627 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19949988 19949989 rs7283217 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 12 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 4965.000000,43.000000, 0.991414,0.008586, maf-5-some-pop 737 chr21 19949989 19949990 rs552870718 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19949992 19949993 rs764293344 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19950029 19950030 rs2824917 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.485799 0.08306 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 2926.000000,2082.000000, 0.584265,0.415735, maf-5-some-pop,maf-5-all-pops 737 chr21 19950065 19950066 rs758565472 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950136 19950137 rs372583523 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19950140 19950141 rs190204175 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19950158 19950159 rs550396291 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19950166 19950167 rs747238081 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950192 19950193 rs568849279 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19950205 19950209 rs755496792 0 + ATCA ATCA -/ATCA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950221 19950222 rs768828115 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950238 19950239 rs535903509 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19950251 19950252 rs547881379 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19950305 19950306 rs142792543 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19950306 19950307 rs777568239 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950316 19950317 rs868476708 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19950339 19950340 rs557697455 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19950355 19950356 rs558555484 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19950358 19950359 rs181902981 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19950359 19950360 rs147443215 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19950371 19950372 rs139756294 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19950378 19950379 rs774413301 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950399 19950403 rs748490334 0 + TTTA TTTA -/TTTA genomic deletion by-cluster 0 0 intron range 1 DuplicateObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950399 19950399 rs147022833 0 + - - -/TTTA genomic insertion by-cluster,by-frequency,by-1000genomes 0.050948 0.151255 intron between 1 DuplicateObserved 3 1000GENOMES,EVA_DECODE,LUNTER, 2 -,TTTA, 4877.000000,131.000000, 0.973842,0.026158, maf-5-some-pop 737 chr21 19950403 19950403 rs755606090 0 + - - -/TTTA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950418 19950419 rs540122270 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950422 19950423 rs866296314 0 + T T A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 737 chr21 19950422 19950422 rs3991012 0 + - - -/ATTT genomic insertion unknown 0 0 intron between 1 MixedObserved 1 TSC-CSHL, 0 737 chr21 19950475 19950476 rs35014541 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.304438 0.244001 intron exact 1 18 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4070.000000,938.000000, 0.812700,0.187300, maf-5-some-pop 737 chr21 19950478 19950479 rs867635640 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19950504 19950505 rs574691320 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19950537 19950538 rs553361480 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19950558 19950559 rs554324057 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19950565 19950566 rs775071900 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950573 19950574 rs572456133 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19950655 19950656 rs751279716 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19950752 19950753 rs115454820 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 4965.000000,43.000000, 0.991414,0.008586, 737 chr21 19950788 19950789 rs570747640 0 + C C A/G genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 737 chr21 19950816 19950817 rs185390164 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19950862 19950863 rs188692158 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19950863 19950865 rs773466612 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19950878 19950879 rs532070761 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19950905 19950906 rs543768040 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19950918 19950919 rs562262834 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19950961 19950961 rs373771914 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 LUNTER, 0 737 chr21 19950963 19950964 rs17782463 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,PERLEGEN, 2 A,G, 47.000000,4961.000000, 0.009385,0.990615, 737 chr21 19950979 19950980 rs762309448 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951007 19951008 rs765509451 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951013 19951014 rs547844565 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19951048 19951049 rs747616319 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19951053 19951054 rs566262253 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19951068 19951069 rs527270992 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19951070 19951071 rs1740161 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.051326 0.151752 intron exact 1 12 1000GENOMES,ABI,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 132.000000,4876.000000, 0.026358,0.973642, maf-5-some-pop,genotype-conflict 737 chr21 19951078 19951079 rs758766621 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951089 19951090 rs141634029 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19951090 19951091 rs726233 0 - G G C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.484209 0.087443 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 2059.000000,2949.000000, 0.411142,0.588858, maf-5-some-pop,maf-5-all-pops 737 chr21 19951111 19951112 rs561817160 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19951173 19951174 rs751590616 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951189 19951190 rs17002710 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.064096 0.167152 intron exact 1 8 1000GENOMES,AFFY,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4842.000000,166.000000, 0.966853,0.033147, maf-5-some-pop 737 chr21 19951199 19951200 rs76596557 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4957.000000,51.000000, 0.989816,0.010184, maf-5-some-pop 737 chr21 19951220 19951221 rs755029413 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951233 19951234 rs781432853 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951237 19951241 rs553641863 0 + TCAC TCAC -/TCAC genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TCAC, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19951262 19951263 rs535682306 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19951301 19951302 rs575110843 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19951314 19951315 rs572617409 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19951371 19951372 rs150497086 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19951379 19951380 rs757131503 0 + A A A/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951414 19951415 rs543960261 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19951425 19951426 rs558091952 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19951456 19951457 rs576362380 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19951488 19951489 rs778512194 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951543 19951544 rs544062372 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19951569 19951570 rs139526871 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19951590 19951591 rs771860643 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951617 19951618 rs529429233 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19951631 19951632 rs575189669 0 + G G C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSIP, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19951650 19951651 rs375934552 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19951723 19951724 rs559808450 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19951729 19951730 rs181254448 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19951763 19951764 rs149683656 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19951769 19951770 rs1740162 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050569 0.150756 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19951770 19951771 rs9680307 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WI_SSAHASNP, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19951771 19951772 rs10222142 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.073369 0.176922 intron exact 1 12 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4817.000000,191.000000, 0.961861,0.038139, maf-5-some-pop 737 chr21 19951788 19951789 rs372970568 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19951794 19951795 rs550035919 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19951810 19951811 rs190786491 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19951870 19951870 rs5842701 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19951876 19951877 rs75940073 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19951879 19951880 rs547650605 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19951945 19951946 rs765641932 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951965 19951966 rs776885170 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19951966 19951967 rs773410846 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951969 19951970 rs183888367 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19951977 19951978 rs763539457 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19951996 19951997 rs539872102 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19952010 19952011 rs146691068 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19952041 19952042 rs576351171 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19952064 19952065 rs114663809 0 + C C C/T genomic single by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 1 1000GENOMES, 2 C,T, 4970.000000,38.000000, 0.992412,0.007588, 737 chr21 19952099 19952100 rs9980973 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.062977 0.165899 intron exact 1 8 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,KRIBB_YJKIM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 4845.000000,163.000000, 0.967452,0.032548, maf-5-some-pop 737 chr21 19952112 19952113 rs543783703 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,SSIP, 2 G,T, 4989.000000,19.000000, 0.996206,0.003794, 737 chr21 19952118 19952119 rs544414130 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19952124 19952125 rs541337264 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19952128 19952129 rs749408699 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952136 19952137 rs559474138 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19952159 19952160 rs578126641 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19952169 19952170 rs187374330 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19952170 19952171 rs564062914 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19952187 19952188 rs531317242 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19952193 19952194 rs559923489 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19952211 19952212 rs139721208 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19952250 19952251 rs191817141 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19952312 19952313 rs1740163 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050569 0.150756 intron exact 1 9 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19952313 19952314 rs547715196 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19952323 19952324 rs1740164 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050191 0.150254 intron exact 1 8 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4879.000000,129.000000, 0.974241,0.025759, maf-5-some-pop 737 chr21 19952355 19952356 rs539272078 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19952363 19952364 rs756222730 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952409 19952410 rs551836212 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19952442 19952443 rs570079207 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19952483 19952486 rs796110391 0 + GAG GAG -/GAG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER, 0 maf-5-some-pop 737 chr21 19952486 19952489 rs66607884 0 + GAG GAG -/GAG genomic deletion by-frequency 0.050569 0.150756 intron range 1 1 TISHKOFF, 2 -,GAG, 130.000000,4878.000000, 0.025959,0.974042, 737 chr21 19952491 19952492 rs144399046 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19952512 19952513 rs778796797 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952556 19952557 rs745598159 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952562 19952563 rs146647959 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19952565 19952566 rs549115612 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19952566 19952567 rs79802058 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.032211 0.122752 intron exact 1 2 1000GENOMES,ILLUMINA, 2 A,C, 4926.000000,82.000000, 0.983626,0.016374, maf-5-some-pop 737 chr21 19952569 19952570 rs183133284 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19952573 19952574 rs758240869 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 737 chr21 19952580 19952581 rs187104064 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19952623 19952624 rs578114745 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19952627 19952628 rs191659372 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19952681 19952682 rs564207363 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19952686 19952686 rs56256710 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 737 chr21 19952691 19952692 rs780177009 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952719 19952720 rs746932968 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952720 19952721 rs149208291 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19952734 19952735 rs768298784 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952735 19952736 rs766242319 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19952794 19952795 rs143240654 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19952811 19952812 rs776215927 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952824 19952825 rs747868847 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19952825 19952826 rs561618276 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19952855 19952856 rs529824336 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19952929 19952930 rs528916481 0 + A A A/C genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19952930 19952931 rs376112358 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19952932 19952933 rs370775556 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19952952 19952953 rs547677500 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19952955 19952956 rs559421516 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19953010 19953011 rs533128093 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19953011 19953012 rs112477800 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19953091 19953092 rs551333037 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19953096 19953097 rs563786742 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19953098 19953099 rs772898896 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953101 19953102 rs763268830 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953112 19953113 rs570124690 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19953165 19953166 rs759262902 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19953203 19953204 rs373324219 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19953214 19953215 rs151238482 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953224 19953225 rs377011578 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19953228 19953229 rs867041901 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19953230 19953231 rs60357137 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 737 chr21 19953239 19953240 rs182749987 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953258 19953259 rs567289454 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953296 19953297 rs534731762 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953312 19953313 rs767027813 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19953341 19953342 rs774896763 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953349 19953350 rs553233379 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953354 19953355 rs140436746 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19953358 19953359 rs539214937 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953388 19953389 rs767588312 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953400 19953401 rs59851350 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 6 1000GENOMES,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19953430 19953431 rs752677311 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953443 19953444 rs760971964 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953452 19953453 rs575796190 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953469 19953470 rs67445777 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.300673 0.244811 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 923.000000,4085.000000, 0.184305,0.815695, maf-5-some-pop 737 chr21 19953516 19953517 rs555514624 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19953530 19953531 rs754057525 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953531 19953532 rs758330582 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953548 19953549 rs573664234 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19953611 19953612 rs541055329 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 G,T, 4997.000000,11.000000, 0.997804,0.002196, 737 chr21 19953615 19953630 rs760682849 0 + CCTTTATGGATCCAC CCTTTATGGATCCAC -/CCTTTATGGATCCAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953630 19953631 rs187721401 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19953638 19953639 rs559594799 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19953649 19953650 rs78081446 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 3 1000GENOMES,GMI,SSMP, 2 A,C, 4941.000000,67.000000, 0.986621,0.013379, maf-5-some-pop 737 chr21 19953671 19953672 rs138389825 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19953672 19953673 rs775710828 0 + G G G/T genomic single unknown 0 0 intron exact 1 3 EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953713 19953714 rs780778733 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953728 19953729 rs117786981 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19953744 19953745 rs142831153 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 4856.000000,152.000000, 0.969649,0.030351, maf-5-some-pop 737 chr21 19953749 19953750 rs777356652 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953783 19953784 rs762653438 0 + C C -/C genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19953798 19953799 rs370474777 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19953850 19953851 rs780511396 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19953906 19953907 rs1735792 0 + G G G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050569 0.150756 intron exact 1 10 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19953917 19953918 rs146972724 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19953936 19953937 rs528466112 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19953940 19953941 rs774629117 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19954019 19954019 rs34600282 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19954049 19954050 rs760065128 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19954064 19954065 rs192491129 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954066 19954067 rs553607065 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954070 19954071 rs573176472 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19954112 19954113 rs185676414 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19954118 19954119 rs772515226 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19954142 19954142 rs35125269 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19954211 19954212 rs138206112 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954214 19954215 rs190500355 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954247 19954248 rs113928791 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19954295 19954296 rs111801293 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954330 19954331 rs747300168 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19954413 19954414 rs535420884 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19954419 19954420 rs555448177 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19954423 19954432 rs200767282 0 + TGCTATGAC TGCTATGAC -/TGCTATGAC genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 737 chr21 19954425 19954432 rs386816777 0 + CTATGAC CTATGAC CTATGAC/TTTTAGAAGGCGGTA genomic in-del by-cluster 0 0 intron rangeInsertion 1 MixedObserved,FlankMismatchGenomeLonger 2 HAMMER_LAB,TISHKOFF, 0 737 chr21 19954425 19954426 rs555479997 0 + C C C/T genomic single by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19954431 19954432 rs2406462 0 + C C A/C/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 1 TSC-CSHL, 0 737 chr21 19954431 19954431 rs202088981 0 + - - -/AGG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 737 chr21 19954432 19954432 rs200924358 0 + - - -/GGTA genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 737 chr21 19954436 19954437 rs573826882 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19954444 19954445 rs764226154 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19954476 19954477 rs541016817 0 + T T A/T genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,T, 17.000000,4991.000000, 0.003395,0.996605, 737 chr21 19954488 19954489 rs868756835 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19954590 19954591 rs78067318 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009539 0.068399 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4984.000000,24.000000, 0.995208,0.004792, 737 chr21 19954591 19954592 rs73893304 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 737 chr21 19954647 19954648 rs544942053 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954654 19954655 rs563634996 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19954738 19954739 rs530597047 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954755 19954756 rs764943658 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 737 chr21 19954794 19954795 rs575382587 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19954814 19954815 rs561040185 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954819 19954820 rs533037090 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,PADH-LAB_SPU,SSIP,WEILL_CORNELL_DGM, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19954825 19954826 rs563975906 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19954845 19954846 rs547072444 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19954854 19954855 rs565104485 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19954882 19954884 rs748373757 0 + TC TC -/TC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19954914 19954915 rs532551512 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19954917 19954918 rs866105856 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19954918 19954919 rs193082823 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19954958 19954959 rs781031928 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19954972 19954973 rs752676120 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19954973 19954974 rs74853958 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 737 chr21 19954980 19954981 rs1740165 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.454182 0.144256 intron exact 1 31 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3262.000000,1746.000000, 0.651358,0.348642, maf-5-some-pop,maf-5-all-pops 737 chr21 19954988 19954988 rs3051034 0 + - - -/GG genomic insertion by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron between 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,LUNTER,TISHKOFF,TSC-CSHL, 2 -,GG, 4878.000000,130.000000, 0.974042,0.025959, maf-5-some-pop 737 chr21 19955011 19955012 rs201662888 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 GMI,SSMP, 0 737 chr21 19955043 19955044 rs759189569 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955044 19955045 rs553539634 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_DECODE,JMKIDD_LAB, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955046 19955047 rs7281258 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.46865 0.121211 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1877.000000,3131.000000, 0.374800,0.625200, maf-5-some-pop,maf-5-all-pops 737 chr21 19955048 19955049 rs143880473 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19955059 19955060 rs546336264 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955083 19955084 rs112347641 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 BCM-HGSC-SUB,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955089 19955090 rs577550286 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955104 19955105 rs770529346 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955156 19955157 rs538657629 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955180 19955181 rs779268525 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955181 19955182 rs556975916 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19955182 19955183 rs575191831 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19955213 19955214 rs542524505 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955275 19955276 rs775924406 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955288 19955289 rs774217532 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19955302 19955303 rs747495526 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955310 19955311 rs560704135 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955323 19955324 rs572721372 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955324 19955325 rs148620897 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 151.000000,4857.000000, 0.030152,0.969848, maf-5-some-pop 737 chr21 19955326 19955326 rs376400535 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron between 1 2 1000GENOMES,LUNTER, 2 -,A, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19955346 19955347 rs539381595 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19955359 19955360 rs776735637 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955368 19955369 rs565409300 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955402 19955403 rs762151470 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955452 19955453 rs77267705 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 G,T, 4927.000000,81.000000, 0.983826,0.016174, maf-5-some-pop 737 chr21 19955460 19955461 rs550999500 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19955464 19955465 rs141139566 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955478 19955479 rs1735793 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.050569 0.150756 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19955479 19955480 rs146227917 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955483 19955484 rs77373619 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,C, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 737 chr21 19955484 19955485 rs868183143 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19955494 19955495 rs575736657 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19955559 19955560 rs546356545 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19955608 19955609 rs571368374 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955645 19955647 rs561023869 0 + TT TT -/TT genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,TT, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19955652 19955653 rs184228014 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19955656 19955657 rs139192794 0 + C C C/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19955682 19955683 rs767331912 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955684 19955685 rs2249526 0 + G G C/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.482979 0.090669 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 2966.000000,2042.000000, 0.592252,0.407748, maf-5-some-pop,maf-5-all-pops 737 chr21 19955711 19955712 rs574898833 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19955754 19955755 rs2205490 0 + A A A/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 A, 418.000000, 1.000000, 737 chr21 19955778 19955779 rs763643900 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19955791 19955792 rs113452201 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 4 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,JMKIDD_LAB, 2 C,T, 37.000000,4971.000000, 0.007388,0.992612, 737 chr21 19955795 19955796 rs554457765 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19955799 19955800 rs9982114 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.063724 0.166737 intron exact 1 6 1000GENOMES,BUSHMAN,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 165.000000,4843.000000, 0.032947,0.967053, maf-5-some-pop 737 chr21 19955801 19955802 rs756013181 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955807 19955808 rs531474340 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955809 19955809 rs530169060 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron between 1 2 1000GENOMES,SSMP, 2 -,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19955819 19955820 rs111346255 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19955822 19955823 rs565230896 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955878 19955879 rs577307568 0 + G G A/G genomic single by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 1 1000GENOMES, 2 A,G, 17.000000,4991.000000, 0.003395,0.996605, 737 chr21 19955923 19955924 rs560196522 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19955924 19955925 rs562823483 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955925 19955926 rs73893305 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 737 chr21 19955929 19955930 rs189029692 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955936 19955937 rs753295652 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19955944 19955945 rs560796653 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19955988 19955989 rs756735711 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956030 19956031 rs149860325 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19956040 19956041 rs1740166 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.454302 0.144085 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1747.000000,3261.000000, 0.348842,0.651158, maf-5-some-pop,maf-5-all-pops 737 chr21 19956041 19956042 rs371599847 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19956043 19956044 rs755361403 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19956076 19956077 rs758744176 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956100 19956101 rs145853444 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19956125 19956126 rs532187701 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19956146 19956147 rs546992137 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19956207 19956208 rs747506545 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956216 19956217 rs181044446 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19956217 19956218 rs769159952 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956233 19956234 rs568476842 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19956237 19956238 rs567110680 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19956252 19956253 rs535876873 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19956262 19956263 rs554419029 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19956301 19956303 rs112685309 0 + TG TG -/TG genomic deletion by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron range 1 4 1000GENOMES,BUSHMAN,LUNTER,SSMP, 2 -,TG, 38.000000,4970.000000, 0.007588,0.992412, 737 chr21 19956302 19956304 rs374467170 0 + GT GT -/GT genomic deletion unknown 0 0 intron range 1 1 TISHKOFF, 0 737 chr21 19956351 19956352 rs375022499 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19956379 19956380 rs117252183 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19956385 19956386 rs112685874 0 + C C C/T genomic single by-cluster,by-frequency 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 737 chr21 19956404 19956405 rs558678179 0 + G G G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19956420 19956421 rs11909413 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.062977 0.165899 intron exact 1 9 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,KRIBB_YJKIM,WEILL_CORNELL_DGM, 2 C,T, 163.000000,4845.000000, 0.032548,0.967452, maf-5-some-pop 737 chr21 19956441 19956442 rs544689427 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19956458 19956459 rs769992177 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956491 19956492 rs556730287 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19956497 19956498 rs148940779 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19956565 19956566 rs542290958 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19956572 19956573 rs555384877 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19956592 19956593 rs1735796 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.454423 0.143914 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1748.000000,3260.000000, 0.349042,0.650958, maf-5-some-pop,maf-5-all-pops 737 chr21 19956641 19956642 rs145344119 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19956662 19956663 rs546185573 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19956691 19956692 rs79102911 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.044872 0.142907 intron exact 1 6 1000GENOMES,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4893.000000,115.000000, 0.977037,0.022963, maf-5-some-pop 737 chr21 19956706 19956714 rs36202477 0 + CACACTCA CACACTCA -/CACACTCA genomic deletion by-cluster,by-frequency,by-1000genomes 0.483053 0.090479 intron range 1 12 1000GENOMES,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER, 2 -,CACACTCA, 2965.000000,2043.000000, 0.592053,0.407947, maf-5-some-pop,maf-5-all-pops 737 chr21 19956709 19956717 rs749278667 0 + ACTCACAC ACTCACAC -/ACTCACAC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19956710 19956718 rs869109025 0 + CTCACACA CTCACACA -/CTCACACA genomic deletion unknown 0 0 intron range 1 1 DEVINE_LAB, 0 737 chr21 19956711 19956719 rs770912533 0 + TCACACAC TCACACAC -/TCACACAC genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19956713 19956714 rs201161105 0 - A A C/T genomic single by-cluster 0 0 intron exact 1 1 ILLUMINA, 0 737 chr21 19956714 19956722 rs201190737 0 + CACACTCA CACACTCA -/CACACTCA genomic deletion unknown 0 0 intron range 1 1 GMI, 0 737 chr21 19956715 19956723 rs3051051 0 + ACACTCAC ACACTCAC -/ACACTCAC genomic deletion by-cluster 0 0 intron range 1 MixedObserved,SingleAlleleFreq 4 BCMHGSC_JDW,HUMANGENOME_JCVI,TISHKOFF,TSC-CSHL, 1 -, 2.000000, 1.000000, 737 chr21 19956715 19956716 rs202104939 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 2 GMI,WEILL_CORNELL_DGM, 0 737 chr21 19956716 19956717 rs200627765 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19956717 19956718 rs201243084 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19956730 19956731 rs185498741 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19956779 19956780 rs17002721 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.064096 0.167152 intron exact 1 9 1000GENOMES,BUSHMAN,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4842.000000,166.000000, 0.966853,0.033147, maf-5-some-pop 737 chr21 19956801 19956802 rs1735797 0 + T T A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.050569 0.150756 intron exact 1 12 1000GENOMES,ABI,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,T, 130.000000,4878.000000, 0.025959,0.974042, maf-5-some-pop 737 chr21 19956826 19956827 rs189412866 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19956838 19956839 rs767220181 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956840 19956840 rs761313227 0 + - - -/CA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956849 19956850 rs181047616 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19956850 19956851 rs147695784 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19956860 19956861 rs2824918 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.478603 0.101197 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3022.000000,1986.000000, 0.603435,0.396565, maf-5-some-pop,maf-5-all-pops 737 chr21 19956903 19956904 rs764138179 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956916 19956917 rs79639309 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,C, 19.000000,4989.000000, 0.003794,0.996206, 737 chr21 19956928 19956929 rs756823559 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19956935 19956936 rs540383506 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19956938 19956939 rs570610383 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957019 19957020 rs764710800 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957031 19957032 rs538067651 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19957048 19957049 rs1735798 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.453697 0.14494 intron exact 1 33 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3266.000000,1742.000000, 0.652157,0.347843, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19957049 19957050 rs575028143 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19957092 19957093 rs187272953 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19957098 19957099 rs542354575 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19957102 19957103 rs776230734 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19957117 19957118 rs554092396 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957138 19957139 rs572372516 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19957152 19957153 rs769803724 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 737 chr21 19957159 19957160 rs142383584 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19957169 19957170 rs2824919 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.478437 0.10157 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 3024.000000,1984.000000, 0.603834,0.396166, maf-5-some-pop,maf-5-all-pops 737 chr21 19957181 19957182 rs747458663 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957185 19957186 rs576205833 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957204 19957205 rs867380252 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19957209 19957210 rs543652494 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19957218 19957219 rs562502091 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19957291 19957292 rs562232037 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957298 19957299 rs529700011 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19957302 19957303 rs770008684 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957327 19957328 rs117251382 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 8 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4983.000000,25.000000, 0.995008,0.004992, 737 chr21 19957337 19957338 rs115900963 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 737 chr21 19957341 19957342 rs531310464 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957347 19957348 rs545145183 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19957389 19957390 rs527303415 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19957393 19957394 rs552425942 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957395 19957396 rs771135344 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957408 19957409 rs564957041 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19957453 19957454 rs56902194 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.077417 0.180873 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4806.000000,202.000000, 0.959665,0.040335, maf-5-some-pop 737 chr21 19957462 19957463 rs538030592 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19957522 19957523 rs9977227 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.062977 0.165899 intron exact 1 7 1000GENOMES,AFFY,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,KRIBB_YJKIM,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4845.000000,163.000000, 0.967452,0.032548, maf-5-some-pop 737 chr21 19957532 19957533 rs376153487 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19957554 19957555 rs547121670 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957575 19957576 rs148025112 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 32.000000,4976.000000, 0.006390,0.993610, 737 chr21 19957586 19957587 rs761677739 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957609 19957610 rs376975383 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19957636 19957637 rs553991118 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19957666 19957667 rs764761896 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957712 19957713 rs192071326 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19957718 19957719 rs112223323 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19957733 19957734 rs558421740 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19957757 19957758 rs749901446 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957770 19957771 rs576366164 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957795 19957796 rs554953966 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19957815 19957816 rs866700051 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19957821 19957822 rs561899547 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19957828 19957829 rs17700554 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.29789 0.24537 intron exact 1 20 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 912.000000,4096.000000, 0.182109,0.817891, maf-5-some-pop 737 chr21 19957833 19957834 rs140821063 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,TISHKOFF, 2 G,T, 4965.000000,43.000000, 0.991414,0.008586, 737 chr21 19957846 19957847 rs766098999 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957887 19957888 rs751168023 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19957895 19957896 rs560018733 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19957952 19957953 rs1467382 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.041819 0.138422 intron exact 1 13 1000GENOMES,AFFY,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 107.000000,4901.000000, 0.021366,0.978634, maf-5-some-pop 737 chr21 19957986 19957987 rs375178851 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19958013 19958014 rs796550661 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 737 chr21 19958070 19958071 rs551927986 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19958072 19958073 rs534341014 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19958173 19958174 rs183445217 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19958190 19958191 rs777797886 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19958265 19958266 rs185978109 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19958274 19958275 rs190679047 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19958311 19958312 rs377515901 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19958313 19958314 rs370711207 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19958324 19958325 rs535684253 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19958408 19958409 rs547845519 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19958412 19958413 rs753259595 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19958426 19958427 rs756647034 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19958454 19958455 rs150174677 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19958540 19958540 rs549246527 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA-GONL,EVA_GENOME_DK, 0 737 chr21 19958548 19958549 rs80016990 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19958553 19958554 rs138643221 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.059235 0.161582 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4855.000000,153.000000, 0.969449,0.030551, maf-5-some-pop 737 chr21 19958561 19958562 rs557824027 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19958562 19958563 rs569717714 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19958593 19958594 rs537814741 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19958594 19958595 rs182652577 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19958599 19958600 rs555655807 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19958617 19958618 rs868639735 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19958633 19958634 rs368493798 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19958653 19958654 rs71318142 0 + C C -/C genomic deletion unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 -,C, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19958669 19958670 rs573879606 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19958708 19958709 rs749434471 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19958722 19958723 rs372292733 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19958754 19958755 rs571668820 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19958767 19958768 rs553821467 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19958768 19958769 rs572007083 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19958811 19958812 rs61694265 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 4 1000GENOMES,HGSV,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 737 chr21 19958824 19958825 rs564045609 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19958839 19958840 rs779257767 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19958938 19958939 rs188162839 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19958960 19958961 rs146171540 0 + A A A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19959031 19959032 rs17002723 0 + T T G/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.062604 0.165477 intron exact 1 MixedObserved 6 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 162.000000,4846.000000, 0.032348,0.967652, maf-5-some-pop 737 chr21 19959031 19959031 rs553973426 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron between 1 MixedObserved 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 4980.000000,28.000000, 0.994409,0.005591, 737 chr21 19959051 19959052 rs867785581 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19959064 19959065 rs529080477 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959091 19959092 rs73312358 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.039905 0.1355 intron exact 1 9 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 102.000000,4906.000000, 0.020367,0.979633, maf-5-some-pop 737 chr21 19959108 19959109 rs1735740 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.102014 0.201495 intron exact 1 11 1000GENOMES,ABI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 270.000000,4738.000000, 0.053914,0.946086, maf-5-some-pop 737 chr21 19959111 19959112 rs761763738 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19959125 19959126 rs775299758 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19959146 19959147 rs528649394 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19959152 19959153 rs376214290 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19959174 19959175 rs533222810 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19959217 19959218 rs1740167 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.185155 0.241444 intron exact 1 18 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4491.000000,517.000000, 0.896765,0.103235, maf-5-some-pop 737 chr21 19959231 19959232 rs192647934 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.05811 0.160244 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4858.000000,150.000000, 0.970048,0.029952, maf-5-some-pop 737 chr21 19959244 19959245 rs137939361 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19959300 19959301 rs555637556 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959304 19959305 rs182717538 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19959330 19959331 rs142429853 0 + A A A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959331 19959332 rs116524453 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.067817 0.1712 intron exact 1 MixedObserved 8 1000GENOMES,DDI,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 176.000000,4832.000000, 0.035144,0.964856, maf-5-some-pop 737 chr21 19959331 19959334 rs386816778 0 + TCC TCC ACT/TCC genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 737 chr21 19959333 19959334 rs78548705 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.067817 0.1712 intron exact 1 8 1000GENOMES,DDI,EVA_DECODE,EVA_GENOME_DK,GMI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4832.000000,176.000000, 0.964856,0.035144, maf-5-some-pop 737 chr21 19959335 19959336 rs564192303 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19959364 19959365 rs2824920 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.471958 0.115042 intron exact 1 29 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,C, 1911.000000,3097.000000, 0.381589,0.618411, maf-5-some-pop,maf-5-all-pops 737 chr21 19959391 19959392 rs187940942 0 + T T G/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,EVA_DECODE, 0 737 chr21 19959398 19959399 rs557924058 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959413 19959414 rs765793905 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19959473 19959474 rs576088930 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19959484 19959484 rs201989866 0 + - - -/AA genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 737 chr21 19959497 19959498 rs145963812 0 + A A A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.117537 0.212022 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4694.000000,314.000000, 0.937300,0.062700, maf-5-some-pop 737 chr21 19959534 19959535 rs867640676 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19959534 19959534 rs745759034 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 SSMP, 0 737 chr21 19959535 19959536 rs1740168 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SC_JCM, 0 737 chr21 19959535 19959535 rs869195794 0 + - - -/AA genomic insertion unknown 0 0 intron between 1 1 DEVINE_LAB, 0 737 chr21 19959547 19959548 rs1740169 0 + A A A/T genomic single by-cluster,by-1000genomes 0.375 0.216506 intron exact 1 6 1000GENOMES,HUMANGENOME_JCVI,SC_JCM,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 3.000000,1.000000, 0.750000,0.250000, 737 chr21 19959562 19959563 rs2739302 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 ILLUMINA,SC_JCM,SSMP,WEILL_CORNELL_DGM, 0 737 chr21 19959578 19959579 rs561952068 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959579 19959580 rs529134580 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19959584 19959586 rs762856700 0 + AA AA -/AA genomic deletion unknown 0 0 intron range 1 1 SSMP, 0 737 chr21 19959592 19959593 rs541318751 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959599 19959600 rs62216004 0 + T T A/T genomic single by-cluster,by-frequency 0.5 0 intron exact 1 4 BCMHGSC_JDW,ENSEMBL,SSMP,WEILL_CORNELL_DGM, 2 A,T, 2.000000,2.000000, 0.500000,0.500000, 737 chr21 19959601 19959602 rs5023221 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 ILLUMINA,KRIBB_YJKIM, 0 737 chr21 19959614 19959615 rs75815608 0 + T T C/T genomic single by-cluster,by-1000genomes 0.5 0 intron exact 1 8 1000GENOMES,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP,WEILL_CORNELL_DGM, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19959615 19959616 rs559254470 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19959636 19959636 rs572937742 0 + - - -/AA genomic insertion by-cluster,by-frequency,by-1000genomes 0.05397 0.155153 intron between 1 2 1000GENOMES,SSIP, 2 -,AA, 4869.000000,139.000000, 0.972244,0.027756, maf-5-some-pop 737 chr21 19959646 19959647 rs533166115 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19959649 19959650 rs71319691 0 + T T A/T genomic single unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19959664 19959665 rs2860411 0 + C C C/T genomic single by-cluster,by-frequency 0.493827 0.055212 intron exact 1 8 ABI,BUSHMAN,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,SC_JCM,SSAHASNP,SSMP, 2 C,T, 4.000000,5.000000, 0.444444,0.555556, 737 chr21 19959674 19959675 rs551444767 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19959701 19959702 rs1740170 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 2 SC_JCM,WEILL_CORNELL_DGM, 0 737 chr21 19959707 19959708 rs569842109 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959708 19959709 rs530805380 0 + T T A/T genomic single by-frequency,by-1000genomes 0.032211 0.122752 intron exact 1 1 1000GENOMES, 2 A,T, 82.000000,4926.000000, 0.016374,0.983626, maf-5-some-pop 737 chr21 19959716 19959717 rs74753496 0 + T T C/T genomic single by-frequency 0.5 0 intron exact 1 1 ENSEMBL, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 737 chr21 19959726 19959727 rs868441543 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19959739 19959739 rs559009735 0 + - - -/C genomic insertion by-frequency,by-1000genomes 0.002792 0.037256 intron between 1 1 1000GENOMES, 2 -,C, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19959751 19959752 rs2481848 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 2 1000GENOMES,SC_JCM, 0 737 chr21 19959760 19959761 rs548925844 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959793 19959794 rs142450144 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19959802 19959803 rs1740171 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,ENSEMBL,SC_JCM, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19959809 19959813 rs796944113 0 + TCAG TCAG -/TCAG genomic deletion unknown 0 0 intron range 1 1 HAMMER_LAB, 0 737 chr21 19959821 19959822 rs796121768 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 737 chr21 19959833 19959834 rs1735741 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 737 chr21 19959842 19959843 rs547290109 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19959843 19959845 rs796811949 0 + GC GC AAG/GC genomic in-del unknown 0 0 intron rangeInsertion 1 FlankMismatchGenomeLonger 1 HAMMER_LAB, 0 737 chr21 19959857 19959858 rs571734415 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19959882 19959883 rs192390885 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19959926 19959927 rs756524380 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19959967 19959968 rs17002728 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028341 0.115616 intron exact 1 6 1000GENOMES,ILLUMINA,ILLUMINA-UK,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 72.000000,4936.000000, 0.014377,0.985623, maf-5-some-pop 737 chr21 19960004 19960005 rs778463897 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960016 19960017 rs576243286 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19960019 19960020 rs754293084 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960027 19960028 rs57686747 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.100944 0.200705 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 267.000000,4741.000000, 0.053315,0.946685, maf-5-some-pop 737 chr21 19960054 19960055 rs118162997 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,C, 22.000000,4986.000000, 0.004393,0.995607, 737 chr21 19960089 19960090 rs184728364 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19960091 19960092 rs76163104 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,SSMP,TISHKOFF, 2 C,T, 38.000000,4970.000000, 0.007588,0.992412, 737 chr21 19960108 19960109 rs746104445 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960153 19960154 rs559633032 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19960200 19960201 rs758573017 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960251 19960252 rs780235631 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960252 19960253 rs144756363 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19960286 19960287 rs187225825 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19960287 19960288 rs747980617 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960297 19960298 rs563152105 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19960334 19960335 rs540756084 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19960341 19960342 rs373084941 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19960342 19960343 rs769575494 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960352 19960353 rs145750510 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19960400 19960401 rs549089169 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19960413 19960414 rs149098152 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19960451 19960452 rs143127372 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19960476 19960477 rs17002729 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.01388 0.082142 intron exact 1 3 1000GENOMES,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 737 chr21 19960487 19960488 rs200944036 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19960488 19960488 rs71318143 0 + - - -/A/AA/AAA genomic insertion by-cluster 0.5 0 intron between 1 InconsistentAlleles 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI, 2 -,A, 1.000000,1.000000, 0.500000,0.500000, rs-cluster-nonoverlapping-alleles 737 chr21 19960500 19960501 rs796778484 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 737 chr21 19960502 19960502 rs796857648 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 737 chr21 19960503 19960504 rs113693820 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 2 1000GENOMES,BUSHMAN, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19960503 19960503 rs59934990 0 + - - -/GA genomic insertion unknown 0 0 intron between 1 MixedObserved 1 HGSV, 0 737 chr21 19960504 19960505 rs74689421 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 6 BCM-HGSC-SUB,BGI,BUSHMAN,GMI,HAMMER_LAB,WEILL_CORNELL_DGM, 1 G, 2.000000, 1.000000, 737 chr21 19960505 19960505 rs147590923 0 + - - -/G/GA genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 4 HAMMER_LAB,HGSV,HUMANGENOME_JCVI,PJP, 1 G, 2.000000, 1.000000, 737 chr21 19960506 19960506 rs67718324 0 + - - -/AG/GA genomic insertion by-cluster 0 0 intron between 1 2 GMI,PJP, 0 737 chr21 19960508 19960509 rs768530060 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 737 chr21 19960509 19960510 rs1740172 0 + A A A/G genomic single by-cluster 0.375 0.216506 intron exact 1 5 HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,WEILL_CORNELL_DGM, 2 A,G, 3.000000,1.000000, 0.750000,0.250000, 737 chr21 19960510 19960510 rs796443835 0 + - - -/AAGG genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 737 chr21 19960517 19960518 rs867906418 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 ILLUMINA,WEILL_CORNELL_DGM, 0 737 chr21 19960518 19960519 rs756083274 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 EVA_GENOME_DK, 0 737 chr21 19960518 19960518 rs540323726 0 + - - -/A genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 SSIP, 0 737 chr21 19960544 19960545 rs539223521 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19960582 19960583 rs192253715 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19960599 19960600 rs569474433 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19960640 19960641 rs183969280 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19960641 19960642 rs377416400 0 + T T C/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19960644 19960645 rs573539783 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19960650 19960651 rs773259744 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960661 19960662 rs534641534 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19960678 19960679 rs749122530 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960722 19960723 rs770481300 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960733 19960734 rs552988810 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19960742 19960743 rs1735742 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.424968 0.178567 intron exact 1 31 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3474.000000,1534.000000, 0.693690,0.306310, maf-5-some-pop,maf-5-all-pops 737 chr21 19960751 19960752 rs544906255 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19960758 19960759 rs759282637 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19960835 19960836 rs563116007 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19960869 19960870 rs2824921 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.365232 0.22186 intron exact 1 MixedObserved 23 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3804.000000,1204.000000, 0.759585,0.240415, maf-5-some-pop 737 chr21 19960869 19960870 rs111934844 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 MixedObserved 4 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, 2 -,A, 38.000000,4970.000000, 0.007588,0.992412, 737 chr21 19960887 19960888 rs562802598 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19960892 19960893 rs140371216 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19960954 19960955 rs189686539 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 19.000000,4989.000000, 0.003794,0.996206, 737 chr21 19960961 19960962 rs78796220 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4856.000000,152.000000, 0.969649,0.030351, maf-5-some-pop 737 chr21 19960967 19960968 rs547015702 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19961036 19961037 rs145272130 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961052 19961053 rs118043053 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19961055 19961056 rs1740173 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 intron exact 1 9 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,SC_JCM,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 737 chr21 19961067 19961068 rs17002736 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 3 1000GENOMES,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 737 chr21 19961148 19961149 rs530350208 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19961184 19961185 rs75032053 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 1 1000GENOMES, 2 A,G, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 737 chr21 19961210 19961211 rs758567776 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961262 19961263 rs754380538 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961293 19961294 rs571542263 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961298 19961299 rs567401402 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961344 19961345 rs180828504 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961386 19961387 rs552887568 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19961388 19961389 rs570933281 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961389 19961390 rs371314983 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19961403 19961404 rs538512349 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19961498 19961499 rs137899933 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961507 19961508 rs7280601 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 BCM_SSAHASNP, 0 737 chr21 19961513 19961514 rs76643741 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 737 chr21 19961566 19961567 rs765383999 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961569 19961570 rs750553671 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961596 19961597 rs534336240 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 32.000000,4976.000000, 0.006390,0.993610, 737 chr21 19961645 19961646 rs575075499 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19961658 19961659 rs542463202 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19961672 19961673 rs76938926 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19961679 19961680 rs547552074 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961703 19961704 rs142325586 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961747 19961748 rs184166700 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19961834 19961835 rs573246174 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961859 19961860 rs540370937 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19961864 19961865 rs189538485 0 + T T A/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 ncRNA exact 1 2 1000GENOMES,EVA_DECODE, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19961869 19961870 rs375613419 0 + T T C/T genomic single unknown 0 0 ncRNA exact 1 1 TISHKOFF, 0 737 chr21 19961870 19961871 rs150547760 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 ncRNA exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 737 chr21 19961911 19961912 rs544904647 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 ncRNA exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19961928 19961929 rs1740174 0 + A A A/G genomic single by-hapmap 0 0 ncRNA exact 1 SingleAlleleFreq 1 SC_JCM, 1 A, 418.000000, 1.000000, 737 chr21 19961937 19961938 rs780325414 0 + A A A/G genomic single unknown 0 0 ncRNA exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961942 19961943 rs747219507 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19961958 19961959 rs563201357 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19961965 19961966 rs138438875 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19961982 19961983 rs548803924 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19961983 19961984 rs566955442 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19961999 19962000 rs528162236 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19962008 19962009 rs374514573 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19962046 19962047 rs866521020 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19962070 19962070 rs143774767 0 + - - -/TCTGGTC genomic insertion unknown 0 0 intron between 1 1 PJP, 0 737 chr21 19962071 19962072 rs546395182 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19962076 19962077 rs112089814 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 3 BCM-HGSC-SUB,GMI,ILLUMINA, 0 737 chr21 19962076 19962076 rs57762500 0 + - - -/TCTGGTC genomic insertion by-cluster,by-frequency,by-1000genomes 0.40263 0.198 intron between 1 MixedObserved 15 1000GENOMES,BCMHGSC_JDW,BILGI_BIOE,BUSHMAN,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,LUNTER,TISHKOFF, 2 -,TCTGGTC, 1399.000000,3609.000000, 0.279353,0.720647, maf-5-some-pop,maf-5-all-pops 737 chr21 19962086 19962087 rs1735743 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.396182 0.202807 intron exact 1 25 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 3645.000000,1363.000000, 0.727835,0.272165, maf-5-some-pop,maf-5-all-pops 737 chr21 19962088 19962089 rs538277487 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19962106 19962107 rs181768711 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19962109 19962110 rs149406040 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 A,G, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19962125 19962126 rs556362233 0 + T T A/G genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 737 chr21 19962183 19962184 rs186567663 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19962184 19962185 rs554699627 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19962185 19962186 rs749280395 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19962210 19962211 rs576939888 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19962218 19962219 rs190629928 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19962220 19962221 rs148591321 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4857.000000,151.000000, 0.969848,0.030152, maf-5-some-pop 737 chr21 19962233 19962234 rs577286078 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19962255 19962256 rs111960243 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19962262 19962263 rs563165130 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19962296 19962298 rs749188355 0 + AC AC -/AC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19962356 19962363 rs201607636 0 + TTATACA TTATACA -/TTATACA genomic deletion by-cluster,by-frequency,by-1000genomes 0.061856 0.164627 intron range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TTATACA, 160.000000,4848.000000, 0.031949,0.968051, maf-5-some-pop 737 chr21 19962369 19962369 rs528293229 0 + - - -/ATTAT genomic insertion by-frequency,by-1000genomes 0.000798 0.019964 intron between 1 1 1000GENOMES, 2 -,ATTAT, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19962445 19962446 rs144057830 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19962447 19962448 rs542181958 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19962460 19962461 rs1740175 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.148661 0.22854 intron exact 1 20 1000GENOMES,AFFY,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SC_JCM,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4603.000000,405.000000, 0.919129,0.080871, maf-5-some-pop 737 chr21 19962483 19962484 rs2824922 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.459801 0.135955 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3214.000000,1794.000000, 0.641773,0.358227, maf-5-some-pop,maf-5-all-pops 737 chr21 19962488 19962489 rs561506532 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19962501 19962502 rs546655356 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19962505 19962506 rs571980431 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19962509 19962510 rs564686845 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19962510 19962511 rs147321680 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19962527 19962528 rs550123188 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19962552 19962553 rs541045451 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19962625 19962626 rs764522231 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19962646 19962647 rs181690067 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19962656 19962657 rs202186708 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,GMI, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19962669 19962670 rs140743217 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 737 chr21 19962686 19962687 rs186452185 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19962700 19962701 rs541143920 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19962716 19962717 rs866673951 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19962719 19962720 rs762219294 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19962813 19962814 rs765706047 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19962816 19962819 rs745537743 0 + ACC ACC -/ACC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19962829 19962830 rs560617908 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19962831 19962832 rs533774502 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19962834 19962835 rs559089366 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19962845 19962846 rs151285211 0 + C C C/G genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 C,G, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19962869 19962870 rs191054022 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19962888 19962889 rs556569475 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19962907 19962908 rs6517817 0 + C C A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 737 chr21 19962933 19962934 rs542494520 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19962937 19962938 rs183369880 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19962967 19962968 rs2824923 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.44546 0.155869 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 3331.000000,1677.000000, 0.665136,0.334864, maf-5-some-pop,maf-5-all-pops 737 chr21 19962988 19962989 rs139285882 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19963001 19963002 rs564352393 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19963009 19963010 rs371266073 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 TISHKOFF, 0 737 chr21 19963009 19963010 rs532034836 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19963026 19963027 rs149720633 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19963052 19963053 rs751784901 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963128 19963128 rs771828610 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963134 19963135 rs377111139 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19963152 19963153 rs755117951 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963184 19963185 rs7276153 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.05811 0.160244 intron exact 1 8 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 150.000000,4858.000000, 0.029952,0.970048, maf-5-some-pop 737 chr21 19963186 19963187 rs145552306 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.017025 0.090679 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 4965.000000,43.000000, 0.991414,0.008586, 737 chr21 19963211 19963212 rs753624296 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963237 19963238 rs566699745 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19963240 19963241 rs764416816 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19963250 19963251 rs140423704 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19963251 19963252 rs145588902 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.022504 0.103662 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 57.000000,4951.000000, 0.011382,0.988618, 737 chr21 19963263 19963264 rs757045084 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963264 19963265 rs78205873 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 8 1000GENOMES,CHURCH_CG54K,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, maf-5-some-pop 737 chr21 19963296 19963297 rs187446833 0 + C C A/C genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19963298 19963299 rs761973122 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19963299 19963300 rs531922477 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19963329 19963330 rs2223139 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,T, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 737 chr21 19963381 19963382 rs551771110 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19963401 19963402 rs189758668 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19963408 19963409 rs146515434 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 35.000000,4973.000000, 0.006989,0.993011, 737 chr21 19963414 19963415 rs183196512 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19963475 19963476 rs554439989 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19963500 19963501 rs779636465 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963507 19963508 rs746687521 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963549 19963550 rs187935110 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19963593 19963594 rs546094436 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19963634 19963635 rs376770671 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19963654 19963655 rs2205476 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.117188 0.211804 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 313.000000,4695.000000, 0.062500,0.937500, maf-5-some-pop 737 chr21 19963735 19963736 rs776318396 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963784 19963785 rs11348224 0 + T T -/T genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved 18 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19963784 19963785 rs199946224 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 1 ILLUMINA, 0 737 chr21 19963789 19963790 rs796427905 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 HGSV, 0 737 chr21 19963795 19963796 rs576242043 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19963807 19963808 rs543886319 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19963824 19963825 rs562269556 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19963828 19963829 rs529688192 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19963845 19963846 rs140840025 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 737 chr21 19963847 19963848 rs560102160 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19963867 19963868 rs191987529 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19963890 19963891 rs552516451 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19963903 19963904 rs770184904 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963908 19963909 rs2824924 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.479984 0.098017 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3005.000000,2003.000000, 0.600040,0.399960, maf-5-some-pop,maf-5-all-pops 737 chr21 19963950 19963952 rs777011173 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19963959 19963960 rs531566481 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19963989 19963990 rs7281976 0 + C C A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19963998 19963999 rs73893307 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 6 1000GENOMES,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 737 chr21 19964000 19964001 rs13052223 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.17332 0.23795 intron exact 1 16 1000GENOMES,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 480.000000,4528.000000, 0.095847,0.904153, maf-5-some-pop 737 chr21 19964020 19964021 rs7280927 0 + G G A/G genomic single by-cluster,by-hapmap,by-1000genomes 0 0 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19964022 19964023 rs566090716 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19964023 19964024 rs539707808 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964029 19964030 rs751543297 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19964062 19964063 rs558062400 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964064 19964065 rs576205744 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964074 19964075 rs759636880 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964075 19964076 rs543654346 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964093 19964094 rs556212465 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964107 19964108 rs574408785 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19964111 19964112 rs7282143 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 737 chr21 19964135 19964136 rs752958195 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964139 19964140 rs559860547 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19964174 19964175 rs73893308 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 737 chr21 19964206 19964207 rs7275788 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.040671 0.13668 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 737 chr21 19964229 19964230 rs185296543 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19964241 19964242 rs778788975 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964263 19964264 rs531523788 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964267 19964268 rs376238766 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964291 19964292 rs568246388 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964303 19964304 rs143005333 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.013092 0.079841 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 4975.000000,33.000000, 0.993411,0.006589, 737 chr21 19964341 19964342 rs779730778 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964369 19964370 rs548813477 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19964371 19964372 rs370890269 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19964380 19964381 rs73893309 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 27.000000,4981.000000, 0.005391,0.994609, 737 chr21 19964388 19964389 rs565923123 0 + C C A/C genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19964401 19964402 rs746543846 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964419 19964420 rs768211281 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964423 19964424 rs114717681 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4983.000000,25.000000, 0.995008,0.004992, 737 chr21 19964477 19964478 rs780768443 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964478 19964479 rs747782956 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964515 19964516 rs558027940 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964525 19964526 rs570055413 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964530 19964531 rs569854282 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19964595 19964596 rs537358492 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964625 19964626 rs555633978 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964633 19964633 rs34418794 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19964649 19964650 rs574198569 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964651 19964652 rs141188258 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19964672 19964673 rs535313634 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19964698 19964699 rs553859908 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19964702 19964703 rs80028967 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 194.000000,4814.000000, 0.038738,0.961262, maf-5-some-pop 737 chr21 19964710 19964711 rs2824925 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 29 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,C, 1823.000000,3185.000000, 0.364018,0.635982, maf-5-some-pop,maf-5-all-pops 737 chr21 19964722 19964723 rs115068716 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.009934 0.069774 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 4983.000000,25.000000, 0.995008,0.004992, 737 chr21 19964726 19964727 rs576356625 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964805 19964806 rs113874423 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19964821 19964822 rs774806829 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19964822 19964823 rs534284628 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19964835 19964836 rs748942217 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19964837 19964838 rs2824926 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.455977 0.141681 intron exact 1 28 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 3247.000000,1761.000000, 0.648363,0.351637, maf-5-some-pop,maf-5-all-pops 737 chr21 19964860 19964861 rs574240942 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19964891 19964892 rs529124880 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964950 19964951 rs547554236 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19964996 19964997 rs559469816 0 + C C C/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19965035 19965036 rs77919762 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,G, 36.000000,4972.000000, 0.007188,0.992812, 737 chr21 19965036 19965037 rs752871727 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965049 19965050 rs760880308 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965056 19965058 rs762342005 0 + CT CT -/CT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965092 19965093 rs373901880 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19965119 19965120 rs543105624 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19965123 19965124 rs750191169 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965136 19965137 rs758238824 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965138 19965139 rs150460146 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19965173 19965174 rs188719830 0 + T T A/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19965174 19965175 rs549666805 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19965188 19965189 rs138500764 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 10.000000,4998.000000, 0.001997,0.998003, 737 chr21 19965195 19965196 rs192611733 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19965230 19965231 rs751504869 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965245 19965245 rs35657548 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19965260 19965261 rs2824927 0 + C C A/C genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.463234 0.130503 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 3183.000000,1825.000000, 0.635583,0.364417, maf-5-some-pop,maf-5-all-pops 737 chr21 19965304 19965305 rs184891782 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA-GONL,EVA_DECODE, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19965328 19965329 rs369349256 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19965403 19965404 rs776882743 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19965411 19965412 rs780686999 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965419 19965420 rs747788313 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965420 19965421 rs762184421 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19965422 19965423 rs112913280 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19965425 19965426 rs188123384 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19965429 19965430 rs35061689 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.077417 0.180873 intron exact 1 13 1000GENOMES,ABI,BCM-HGSC-SUB,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 202.000000,4806.000000, 0.040335,0.959665, maf-5-some-pop 737 chr21 19965440 19965442 rs565013227 0 + AA AA -/AA genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron range 1 1 1000GENOMES, 2 -,AA, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19965496 19965497 rs543339632 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19965499 19965500 rs749691699 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965506 19965507 rs2824928 0 + A A A/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.379942 0.213577 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3731.000000,1277.000000, 0.745008,0.254992, maf-5-some-pop,maf-5-all-pops 737 chr21 19965525 19965526 rs181072633 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 4989.000000,19.000000, 0.996206,0.003794, 737 chr21 19965549 19965550 rs111567977 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19965567 19965568 rs147338624 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19965606 19965607 rs11700456 0 + C C A/C/T genomic single by-cluster,by-hapmap,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,CSHL-HAPMAP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19965622 19965623 rs541387620 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19965634 19965635 rs746328182 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965647 19965648 rs561260825 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19965677 19965678 rs530256072 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19965678 19965679 rs184828003 0 + G G A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19965694 19965695 rs530962341 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19965702 19965703 rs141012349 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4941.000000,67.000000, 0.986621,0.013379, 737 chr21 19965703 19965704 rs114225058 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 70.000000,4938.000000, 0.013978,0.986022, maf-5-some-pop 737 chr21 19965705 19965706 rs55687944 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.356383 0.226236 intron exact 1 17 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1162.000000,3846.000000, 0.232029,0.767971, maf-5-some-pop,maf-5-all-pops 737 chr21 19965741 19965742 rs372720925 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19965754 19965755 rs149353442 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19965786 19965787 rs189603382 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19965813 19965814 rs570547258 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19965824 19965825 rs539504316 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19965832 19965833 rs557918503 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19965845 19965846 rs2824929 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.340784 0.232934 intron exact 1 18 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3917.000000,1091.000000, 0.782149,0.217851, maf-5-some-pop 737 chr21 19965890 19965891 rs181976316 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19965892 19965893 rs776991357 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19965911 19965912 rs186646939 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19965941 19965942 rs573841490 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19965954 19965955 rs76772001 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.074843 0.178382 intron exact 1 11 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 195.000000,4813.000000, 0.038938,0.961062, maf-5-some-pop 737 chr21 19965965 19965966 rs568752111 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19965999 19966000 rs756001258 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19966040 19966041 rs577431631 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19966072 19966074 rs147992628 0 + AA AA -/AA genomic deletion by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron range 1 MixedObserved 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF, 2 -,AA, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 737 chr21 19966072 19966073 rs545082879 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19966120 19966121 rs144654252 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 737 chr21 19966122 19966123 rs751460374 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 737 chr21 19966127 19966128 rs9305872 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.025232 0.109451 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4944.000000,64.000000, 0.987220,0.012780, 737 chr21 19966149 19966150 rs376207109 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19966156 19966157 rs542966858 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19966167 19966168 rs766960223 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966171 19966172 rs534915573 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19966179 19966180 rs528752609 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19966187 19966188 rs374991192 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19966230 19966231 rs547329681 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19966242 19966243 rs755593018 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966259 19966260 rs571851279 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19966273 19966274 rs554186107 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19966275 19966276 rs748924679 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966292 19966293 rs2824930 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.430136 0.173352 intron exact 1 18 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3440.000000,1568.000000, 0.686901,0.313099, maf-5-some-pop,maf-5-all-pops 737 chr21 19966336 19966337 rs569775558 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19966351 19966352 rs78648476 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014274 0.083265 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 36.000000,4972.000000, 0.007188,0.992812, 737 chr21 19966381 19966382 rs779266034 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966490 19966491 rs746388869 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966507 19966508 rs772578127 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966509 19966510 rs555297636 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19966512 19966513 rs376211247 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19966514 19966515 rs78701228 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.064096 0.167152 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 166.000000,4842.000000, 0.033147,0.966853, maf-5-some-pop 737 chr21 19966536 19966537 rs2824931 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.463234 0.130503 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 3183.000000,1825.000000, 0.635583,0.364417, maf-5-some-pop,maf-5-all-pops 737 chr21 19966544 19966545 rs73893310 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19966548 19966549 rs865962611 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19966568 19966569 rs576592145 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19966578 19966579 rs73893311 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 27.000000,4981.000000, 0.005391,0.994609, 737 chr21 19966585 19966586 rs545231123 0 + C C C/G/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966586 19966587 rs544843552 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19966613 19966614 rs559203327 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19966642 19966643 rs139352159 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19966646 19966647 rs376490571 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19966666 19966667 rs575646431 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19966697 19966698 rs556981664 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19966726 19966727 rs542775334 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19966743 19966744 rs777009898 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19966772 19966773 rs76894291 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 7 1000GENOMES,BUSHMAN,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 59.000000,4949.000000, 0.011781,0.988219, 737 chr21 19966825 19966826 rs144091042 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19966837 19966838 rs191891222 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19966849 19966850 rs540904146 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19966910 19966911 rs796381446 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 737 chr21 19966941 19966942 rs146519358 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19966952 19966953 rs532746204 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19966992 19966993 rs2178982 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3185.000000,1823.000000, 0.635982,0.364018, maf-5-some-pop,maf-5-all-pops 737 chr21 19967054 19967055 rs561299488 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19967120 19967121 rs774148029 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19967133 19967134 rs759230663 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19967140 19967141 rs181136413 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967143 19967144 rs530090770 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19967164 19967165 rs548822459 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19967179 19967180 rs567237698 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19967180 19967181 rs534344576 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19967197 19967198 rs752571038 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19967208 19967209 rs552838522 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19967215 19967216 rs2824932 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.461259 0.133677 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 1807.000000,3201.000000, 0.360823,0.639177, maf-5-some-pop,maf-5-all-pops 737 chr21 19967242 19967243 rs141065139 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19967252 19967253 rs186717710 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19967276 19967277 rs556708655 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19967278 19967279 rs150093321 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967282 19967283 rs537766899 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSIP, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967330 19967331 rs554791939 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19967332 19967333 rs763536167 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19967407 19967408 rs573189341 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967410 19967411 rs563594499 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19967413 19967414 rs189691864 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19967414 19967415 rs2824933 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.455858 0.141853 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1760.000000,3248.000000, 0.351438,0.648562, maf-5-some-pop,maf-5-all-pops 737 chr21 19967447 19967448 rs2824934 0 + G G G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.479984 0.098017 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 3005.000000,2003.000000, 0.600040,0.399960, maf-5-some-pop,maf-5-all-pops 737 chr21 19967459 19967459 rs35677736 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.354235 0.227234 intron between 1 14 1000GENOMES,ABI,BILGI_BIOE,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 3856.000000,1152.000000, 0.769968,0.230032, maf-5-some-pop 737 chr21 19967466 19967466 rs397811564 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 737 chr21 19967468 19967469 rs182284693 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4941.000000,67.000000, 0.986621,0.013379, 737 chr21 19967479 19967480 rs766537673 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19967488 19967489 rs528405958 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19967489 19967490 rs774425055 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19967492 19967493 rs563066111 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967501 19967502 rs549917551 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19967508 19967509 rs759591998 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19967534 19967535 rs779164573 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19967551 19967552 rs145442335 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 32.000000,4976.000000, 0.006390,0.993610, 737 chr21 19967584 19967585 rs115751756 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05811 0.160244 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4858.000000,150.000000, 0.970048,0.029952, maf-5-some-pop 737 chr21 19967598 19967599 rs560860110 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19967614 19967615 rs528181986 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19967617 19967618 rs8133609 0 + G G C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.451856 0.147493 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 3281.000000,1727.000000, 0.655152,0.344848, maf-5-some-pop,maf-5-all-pops 737 chr21 19967664 19967665 rs78319107 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 6 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 75.000000,4933.000000, 0.014976,0.985024, 737 chr21 19967673 19967674 rs187696612 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19967676 19967677 rs538509897 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19967702 19967703 rs550633213 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967730 19967731 rs190754685 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19967763 19967764 rs148819666 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19967775 19967776 rs184126084 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19967780 19967781 rs375744391 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967821 19967822 rs188187450 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19967835 19967836 rs573336854 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19967839 19967840 rs556647431 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19967854 19967855 rs768864610 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19967921 19967922 rs550988889 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19967982 19967983 rs193163587 0 + G G G/T genomic single by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 1 1000GENOMES, 2 G,T, 4995.000000,13.000000, 0.997404,0.002596, 737 chr21 19967987 19967988 rs558966486 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19968020 19968021 rs577326717 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19968036 19968037 rs544906835 0 + T T A/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19968081 19968082 rs563067011 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19968094 19968095 rs781385032 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968101 19968102 rs182987844 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19968109 19968110 rs866391357 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19968120 19968121 rs2824935 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.356383 0.226236 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1162.000000,3846.000000, 0.232029,0.767971, maf-5-some-pop,maf-5-all-pops 737 chr21 19968142 19968143 rs560741013 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19968169 19968170 rs528144753 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19968201 19968202 rs2824936 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.456214 0.141336 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3245.000000,1763.000000, 0.647963,0.352037, maf-5-some-pop,maf-5-all-pops 737 chr21 19968219 19968220 rs375709121 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19968230 19968231 rs773277721 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968232 19968233 rs564520809 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19968265 19968266 rs2824937 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463451 0.130149 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1827.000000,3181.000000, 0.364816,0.635184, maf-5-some-pop,maf-5-all-pops 737 chr21 19968301 19968302 rs771749812 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968304 19968305 rs56310978 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HGSV,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 27.000000,4981.000000, 0.005391,0.994609, 737 chr21 19968305 19968306 rs4818422 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.405603 0.195673 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1416.000000,3592.000000, 0.282748,0.717252, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19968340 19968341 rs187280272 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,MPI_MOLGEN, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19968345 19968346 rs548035044 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19968357 19968358 rs753291940 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968392 19968393 rs555269351 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19968407 19968407 rs574898091 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron between 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,A, 4990.000000,18.000000, 0.996406,0.003594, 737 chr21 19968431 19968432 rs770242939 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19968436 19968437 rs537009475 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19968514 19968515 rs138009170 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 9 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19968518 19968519 rs749593660 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19968523 19968524 rs764979079 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968558 19968559 rs4816778 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 4904.000000,104.000000, 0.979233,0.020767, maf-5-some-pop 737 chr21 19968597 19968598 rs559130309 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19968638 19968639 rs758806915 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968648 19968649 rs771144752 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19968670 19968671 rs570837210 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19968673 19968674 rs144037150 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19968681 19968682 rs556529604 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19968720 19968721 rs574986332 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19968782 19968783 rs542531010 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19968811 19968812 rs553912283 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19968817 19968818 rs2824938 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.463126 0.13068 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1824.000000,3184.000000, 0.364217,0.635783, maf-5-some-pop,maf-5-all-pops 737 chr21 19968847 19968848 rs539917065 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19968882 19968883 rs191371121 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19968944 19968945 rs577307031 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19968945 19968946 rs755498542 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968966 19968967 rs2824939 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.461148 0.133852 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 3202.000000,1806.000000, 0.639377,0.360623, maf-5-some-pop,maf-5-all-pops 737 chr21 19968990 19968991 rs748281856 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19968999 19969000 rs559313032 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19969061 19969062 rs543822691 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19969110 19969111 rs562511178 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19969140 19969141 rs529921088 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19969145 19969146 rs183668858 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19969153 19969154 rs759663983 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19969172 19969173 rs548483163 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19969180 19969181 rs566656608 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19969234 19969235 rs13047911 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.388775 0.207946 intron exact 1 13 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3685.000000,1323.000000, 0.735823,0.264177, maf-5-some-pop 737 chr21 19969235 19969236 rs139354786 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 737 chr21 19969261 19969262 rs188378703 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19969279 19969280 rs8127345 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.455858 0.141853 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,G, 1760.000000,3248.000000, 0.351438,0.648562, maf-5-some-pop,maf-5-all-pops 737 chr21 19969300 19969301 rs556256126 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19969327 19969328 rs111517519 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 152.000000,4856.000000, 0.030351,0.969649, maf-5-some-pop 737 chr21 19969339 19969340 rs535757771 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19969362 19969363 rs554069769 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19969399 19969400 rs572298686 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19969450 19969451 rs376965619 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19969476 19969477 rs866991981 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19969500 19969501 rs200180039 0 + T T -/T genomic deletion by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19969503 19969504 rs8131287 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.463451 0.130149 intron exact 1 MixedObserved 17 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 A,T, 3181.000000,1827.000000, 0.635184,0.364816, maf-5-some-pop,maf-5-all-pops 737 chr21 19969503 19969503 rs562356450 0 + - - -/A genomic insertion unknown 0 0 intron between 1 MixedObserved 1 SSIP, 0 737 chr21 19969511 19969512 rs13047309 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.359787 0.224604 intron exact 1 MixedObserved,SingleClassTriAllelic,InconsistentAlleles 10 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_GENOME_DK,GMI,HUMANGENOME_JCVI,SSAHASNP,WEILL_CORNELL_DGM, 2 A,G, 1178.000000,3830.000000, 0.235224,0.764776, maf-5-some-pop 737 chr21 19969511 19969512 rs201642883 0 + G G -/G genomic deletion by-1000genomes 0 0 intron exact 1 MixedObserved 1 1000GENOMES, 0 737 chr21 19969559 19969560 rs576819460 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19969562 19969563 rs375170759 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19969609 19969610 rs377511775 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19969620 19969623 rs755023912 0 + TTA TTA -/TTA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19969669 19969670 rs562312621 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19969690 19969691 rs759108399 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 DDI, 0 737 chr21 19969743 19969744 rs570415775 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19969767 19969767 rs200105081 0 + - - -/T genomic insertion by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron between 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,T, 4987.000000,21.000000, 0.995807,0.004193, 737 chr21 19969801 19969801 rs112014347 0 + - - -/A/AAA/AAAA genomic insertion by-cluster,by-frequency,by-1000genomes 0.340333 0.233109 intron between 1 InconsistentAlleles 6 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,AAA, 1089.000000,3919.000000, 0.217452,0.782548, maf-5-some-pop,maf-5-all-pops,rs-cluster-nonoverlapping-alleles 737 chr21 19969811 19969811 rs10670470 0 + - - -/AAA genomic insertion unknown 0 0 intron between 1 1 PJP, 0 737 chr21 19969813 19969813 rs199596544 0 + - - -/A/AAA genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 3 GMI,HGSV,HUMANGENOME_JCVI, 1 AAA, 2.000000, 1.000000, 737 chr21 19969864 19969865 rs138164163 0 + T T G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19969911 19969912 rs542434534 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 ILLUMINA, 0 737 chr21 19969951 19969952 rs193011558 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 C,T, 4989.000000,19.000000, 0.996206,0.003794, 737 chr21 19969952 19969953 rs73202342 0 + G G A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19969961 19969962 rs560477296 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19969974 19969975 rs746606527 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19969996 19969997 rs867196205 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19969997 19969998 rs867540779 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19970002 19970003 rs527473298 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970017 19970018 rs374741107 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19970025 19970026 rs775221717 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970053 19970054 rs370705058 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19970103 19970104 rs570681997 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970105 19970106 rs746970358 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970186 19970187 rs755385921 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_GENOME_DK, 0 737 chr21 19970202 19970203 rs768628080 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970207 19970208 rs2824940 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.356383 0.226236 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1162.000000,3846.000000, 0.232029,0.767971, maf-5-some-pop,maf-5-all-pops 737 chr21 19970219 19970220 rs550282862 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970224 19970225 rs568340092 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19970242 19970243 rs761451319 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970248 19970249 rs535888247 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19970259 19970260 rs764596437 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970272 19970292 rs750152575 0 + TTTTAAAAGCTCAGTTAGTA TTTTAAAAGCTCAGTTAGTA -/TTTTAAAAGCTCAGTTAGTA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19970276 19970277 rs768083300 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970300 19970302 rs762277446 0 + CA CA -/CA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970330 19970331 rs772924143 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970336 19970337 rs149560906 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970410 19970411 rs185736002 0 + A A A/G genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19970412 19970413 rs565989809 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19970419 19970420 rs539750656 0 + C C A/C genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,C, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19970430 19970431 rs555308237 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19970435 19970436 rs747840935 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 DDI,WEILL_CORNELL_DGM, 0 737 chr21 19970466 19970467 rs557906537 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19970491 19970492 rs576593685 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19970529 19970530 rs2225407 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.118235 0.212457 intron exact 1 25 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 G,T, 4692.000000,316.000000, 0.936901,0.063099, maf-5-some-pop 737 chr21 19970543 19970544 rs140052557 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 26.000000,4982.000000, 0.005192,0.994808, 737 chr21 19970565 19970566 rs537731885 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19970581 19970582 rs574348503 0 + C C C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19970590 19970591 rs67938725 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.345037 0.231231 intron exact 1 15 1000GENOMES,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1110.000000,3898.000000, 0.221645,0.778355, maf-5-some-pop 737 chr21 19970637 19970638 rs144103109 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19970643 19970644 rs115552076 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4843.000000,165.000000, 0.967053,0.032947, maf-5-some-pop 737 chr21 19970644 19970645 rs546133227 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19970662 19970663 rs145990000 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19970690 19970691 rs753245168 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970702 19970703 rs28718045 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.463126 0.13068 intron exact 1 21 1000GENOMES,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 1824.000000,3184.000000, 0.364217,0.635783, maf-5-some-pop,maf-5-all-pops 737 chr21 19970706 19970707 rs75219273 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 1 ENSEMBL, 1 G, 2.000000, 1.000000, 737 chr21 19970706 19970706 rs142952016 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.08108 0.184299 intron between 1 MixedObserved 3 1000GENOMES,EVA-GONL,LUNTER, 2 -,A, 4796.000000,212.000000, 0.957668,0.042332, maf-5-some-pop 737 chr21 19970713 19970714 rs777644430 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970716 19970716 rs58816560 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 HGSV, 0 737 chr21 19970723 19970724 rs182167728 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970745 19970746 rs2824941 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.463018 0.130857 intron exact 1 23 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1823.000000,3185.000000, 0.364018,0.635982, maf-5-some-pop,maf-5-all-pops 737 chr21 19970791 19970791 rs770257661 0 + - - -/ACAT genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970794 19970795 rs572709283 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19970797 19970798 rs529375699 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970804 19970807 rs763293818 0 + TTA TTA -/TTA genomic deletion by-cluster 0 0 intron range 1 DuplicateObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970804 19970804 rs529445662 0 + - - -/TTA genomic insertion by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron between 1 DuplicateObserved 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,SSIP,SSMP, 2 -,TTA, 4843.000000,165.000000, 0.967053,0.032947, maf-5-some-pop 737 chr21 19970806 19970807 rs28399290 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.468249 0.121932 intron exact 1 19 1000GENOMES,BCM-HGSC-SUB,BGI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,WEILL_CORNELL_DGM, 2 A,T, 1873.000000,3135.000000, 0.374002,0.625998, maf-5-some-pop,maf-5-all-pops 737 chr21 19970807 19970807 rs779507294 0 + - - -/TTA genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970815 19970816 rs139983848 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19970821 19970822 rs771340768 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19970844 19970845 rs779125090 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19970866 19970867 rs530751702 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19970884 19970885 rs539713898 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970893 19970894 rs551694121 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19970932 19970933 rs746845843 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19970945 19970946 rs28379459 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.455858 0.141853 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3248.000000,1760.000000, 0.648562,0.351438, maf-5-some-pop,maf-5-all-pops 737 chr21 19970959 19970960 rs151217981 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 737 chr21 19970962 19970963 rs555978090 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19970963 19970964 rs574434142 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19970964 19970965 rs375954164 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19970974 19970975 rs186253279 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19970976 19970977 rs188673081 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971002 19971003 rs747970639 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971023 19971024 rs28516881 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.463126 0.13068 intron exact 1 20 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 G,T, 1824.000000,3184.000000, 0.364217,0.635783, maf-5-some-pop,maf-5-all-pops 737 chr21 19971051 19971052 rs181242756 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19971103 19971104 rs28375811 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.463018 0.130857 intron exact 1 21 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 C,T, 1823.000000,3185.000000, 0.364018,0.635982, maf-5-some-pop,maf-5-all-pops 737 chr21 19971128 19971129 rs371642707 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19971130 19971131 rs147589224 0 + C C C/T genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19971141 19971142 rs760620583 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19971143 19971144 rs543561343 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971143 19971144 rs544926018 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 MixedObserved 2 1000GENOMES,SSIP, 2 -,T, 31.000000,4977.000000, 0.006190,0.993810, 737 chr21 19971170 19971171 rs113061893 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19971178 19971179 rs529321827 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971187 19971188 rs541144845 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971205 19971206 rs559309725 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19971262 19971263 rs142019762 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 30.000000,4978.000000, 0.005990,0.994010, 737 chr21 19971263 19971264 rs551783619 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971272 19971273 rs566528456 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971322 19971323 rs570368733 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971344 19971345 rs760039294 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971345 19971346 rs767932951 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971346 19971347 rs776780189 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19971361 19971362 rs55981604 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.375598 0.21616 intron exact 1 13 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1255.000000,3753.000000, 0.250599,0.749401, maf-5-some-pop,maf-5-all-pops 737 chr21 19971382 19971383 rs139213880 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4990.000000,18.000000, 0.996406,0.003594, 737 chr21 19971424 19971425 rs184964612 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971437 19971438 rs55670035 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.442385 0.15965 intron exact 1 14 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3354.000000,1654.000000, 0.669728,0.330272, maf-5-some-pop,maf-5-all-pops 737 chr21 19971513 19971514 rs373871976 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19971530 19971531 rs189718768 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.009143 0.066992 intron exact 1 4 1000GENOMES,EVA_DECODE,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 737 chr21 19971531 19971532 rs753914147 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971534 19971535 rs565675546 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19971563 19971564 rs537374028 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19971579 19971580 rs8128945 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 737 chr21 19971610 19971611 rs146048737 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19971612 19971613 rs138880569 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031439 0.121371 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 4928.000000,80.000000, 0.984026,0.015974, maf-5-some-pop 737 chr21 19971613 19971614 rs183672505 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19971630 19971633 rs539779254 0 + GTT GTT -/GTT genomic deletion by-cluster 0 0 intron range 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971658 19971659 rs555505576 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19971675 19971676 rs142012752 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19971694 19971695 rs553195089 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19971701 19971702 rs754773342 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971727 19971728 rs187641137 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971737 19971738 rs559467883 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19971772 19971773 rs9637056 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.370568 0.219005 intron exact 1 18 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 3778.000000,1230.000000, 0.754393,0.245607, maf-5-some-pop,maf-5-all-pops 737 chr21 19971852 19971853 rs545346840 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971918 19971919 rs377013774 0 + C C A/C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,TISHKOFF, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19971938 19971939 rs373073119 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19971954 19971955 rs531200279 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19971957 19971958 rs748141109 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19971994 19971995 rs549444852 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972006 19972007 rs567837641 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972044 19972045 rs79069871 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 29.000000,4979.000000, 0.005791,0.994209, 737 chr21 19972050 19972051 rs547504033 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972064 19972065 rs377412127 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19972165 19972166 rs565735448 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972172 19972173 rs539540354 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972176 19972177 rs74435904 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 intron exact 1 10 1000GENOMES,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4812.000000,196.000000, 0.960863,0.039137, maf-5-some-pop 737 chr21 19972223 19972224 rs759760741 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19972285 19972286 rs191495433 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972316 19972317 rs149716779 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972317 19972318 rs555405036 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972323 19972324 rs183806388 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972359 19972360 rs187576462 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19972410 19972411 rs552758900 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19972431 19972432 rs577669755 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972433 19972434 rs770555267 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19972472 19972473 rs545194527 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972473 19972474 rs372993696 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19972492 19972493 rs563683650 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972510 19972511 rs575576161 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972523 19972524 rs191688252 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19972528 19972529 rs561607976 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972573 19972574 rs528802140 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972583 19972584 rs774163789 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19972598 19972599 rs77172385 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 4 BCM-HGSC-SUB,BGI,GMI,ILLUMINA, 0 737 chr21 19972599 19972599 rs148357178 0 + - - -/CTT genomic insertion by-cluster,by-frequency,by-1000genomes 0.455858 0.141853 intron between 1 13 1000GENOMES,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,SSMP, 2 -,CTT, 1760.000000,3248.000000, 0.351438,0.648562, maf-5-some-pop,maf-5-all-pops 737 chr21 19972600 19972600 rs68117894 0 + - - -/CTT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 737 chr21 19972602 19972602 rs138337338 0 + - - -/TCT genomic insertion unknown 0 0 intron between 1 1 PJP, 0 737 chr21 19972604 19972604 rs34268400 0 + - - -/TCT genomic insertion by-cluster 0 0 intron between 1 SingleAlleleFreq 5 ABI,BCMHGSC_JDW,HGSV,HUMANGENOME_JCVI,TISHKOFF, 1 TCT, 2.000000, 1.000000, 737 chr21 19972606 19972607 rs547166789 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972657 19972658 rs62216039 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BCMHGSC_JDW, 0 737 chr21 19972659 19972660 rs565499628 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19972692 19972693 rs759189857 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19972697 19972698 rs540297989 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 -,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19972845 19972846 rs533012035 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19972849 19972850 rs144649928 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19972900 19972901 rs569614668 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972951 19972952 rs536697077 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19972961 19972964 rs754392188 0 + ATG ATG -/ATG genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19973017 19973018 rs2824942 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.455858 0.141853 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 1760.000000,3248.000000, 0.351438,0.648562, maf-5-some-pop,maf-5-all-pops 737 chr21 19973064 19973065 rs182695112 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973072 19973073 rs186642672 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973073 19973074 rs552722588 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 G,T, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19973093 19973094 rs577449217 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973122 19973123 rs539099830 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973132 19973133 rs779367834 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19973145 19973145 rs750299513 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19973146 19973147 rs115004500 0 + C C C/T genomic single by-frequency,by-1000genomes 0.016632 0.089664 intron exact 1 MixedObserved 1 1000GENOMES, 2 C,T, 4966.000000,42.000000, 0.991613,0.008387, 737 chr21 19973146 19973148 rs386816779 0 + CA CA CA/GG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 TISHKOFF, 0 737 chr21 19973147 19973148 rs11088687 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.036451 0.129988 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 93.000000,4915.000000, 0.018570,0.981430, maf-5-some-pop 737 chr21 19973155 19973156 rs746170400 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19973158 19973159 rs542612160 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973169 19973170 rs561267085 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973175 19973176 rs112537811 0 + C C C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19973201 19973202 rs148469261 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19973202 19973203 rs540941143 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19973212 19973212 rs751601767 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 DDI, 0 737 chr21 19973213 19973214 rs2824943 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.455858 0.141853 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 1760.000000,3248.000000, 0.351438,0.648562, maf-5-some-pop 737 chr21 19973217 19973218 rs754364402 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19973220 19973221 rs532626869 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973254 19973255 rs192801161 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973260 19973261 rs145037562 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19973262 19973263 rs185532737 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19973276 19973277 rs2824944 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.455621 0.142197 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1758.000000,3250.000000, 0.351038,0.648962, maf-5-some-pop,maf-5-all-pops 737 chr21 19973289 19973290 rs190736457 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005178 0.050619 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 4995.000000,13.000000, 0.997404,0.002596, 737 chr21 19973299 19973300 rs201447150 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19973301 19973302 rs534571484 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973365 19973366 rs12185860 0 + A A A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.459687 0.136129 intron exact 1 19 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 A,T, 3215.000000,1793.000000, 0.641973,0.358027, maf-5-some-pop 737 chr21 19973399 19973401 rs70941265 0 + GC GC GC/TG genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 TG, 2.000000, 1.000000, 737 chr21 19973399 19973400 rs77320995 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.455977 0.141681 intron exact 1 MixedObserved 7 1000GENOMES,BL,DDI,ENSEMBL,EVA_GENOME_DK,GMI,WEILL_CORNELL_DGM, 2 G,T, 1761.000000,3247.000000, 0.351637,0.648363, maf-5-some-pop,maf-5-all-pops 737 chr21 19973399 19973403 rs796777902 0 + GCAT GCAT GCAT/TGAC genomic mnp unknown 0 0 intron rangeSubstitution 1 MixedObserved,FlankMismatchGenomeEqual 1 HAMMER_LAB, 0 737 chr21 19973400 19973401 rs78688849 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.455977 0.141681 intron exact 1 7 1000GENOMES,BL,DDI,ENSEMBL,EVA_GENOME_DK,GMI,WEILL_CORNELL_DGM, 2 C,G, 1761.000000,3247.000000, 0.351637,0.648363, maf-5-some-pop,maf-5-all-pops 737 chr21 19973402 19973403 rs71330128 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.455977 0.141681 intron exact 1 10 1000GENOMES,BL,DDI,ENSEMBL,EVA-GONL,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 3247.000000,1761.000000, 0.648363,0.351637, maf-5-some-pop,maf-5-all-pops 737 chr21 19973405 19973406 rs189020067 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,EVA-GONL, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19973471 19973472 rs74750499 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.029891 0.118541 intron exact 1 5 1000GENOMES,BUSHMAN,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4932.000000,76.000000, 0.984824,0.015176, 737 chr21 19973472 19973473 rs147552916 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19973545 19973546 rs181035414 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973581 19973582 rs201496686 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19973583 19973584 rs11342913 0 + T T -/T genomic deletion by-cluster,by-frequency,by-1000genomes 0.463126 0.13068 intron exact 1 18 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 3184.000000,1824.000000, 0.635783,0.364217, maf-5-some-pop,maf-5-all-pops 737 chr21 19973584 19973585 rs796837718 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 HGSV, 0 737 chr21 19973584 19973585 rs869063517 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 DEVINE_LAB, 0 737 chr21 19973615 19973616 rs540908434 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973618 19973619 rs559341312 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973662 19973663 rs550999843 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19973671 19973672 rs773069288 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19973680 19973681 rs577362469 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973684 19973685 rs544439302 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973690 19973691 rs17002767 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.027565 0.114116 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,WEILL_CORNELL_DGM, 2 C,T, 4938.000000,70.000000, 0.986022,0.013978, maf-5-some-pop 737 chr21 19973723 19973724 rs371603564 0 + G G A/C/G genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 0 737 chr21 19973724 19973725 rs755937431 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19973725 19973726 rs530496042 0 + T T C/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19973729 19973730 rs542330575 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19973790 19973791 rs762585784 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19973805 19973806 rs560525370 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19973812 19973813 rs528122295 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973853 19973854 rs114389777 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19973900 19973901 rs571411814 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973901 19973902 rs766189283 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19973919 19973920 rs751269281 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19973924 19973925 rs144332263 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19973929 19973930 rs147792932 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19973933 19973934 rs728430 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.312348 0.242101 intron exact 1 19 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 G,T, 970.000000,4038.000000, 0.193690,0.806310, maf-5-some-pop 737 chr21 19973956 19973957 rs767053194 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19973999 19974000 rs79830993 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.028728 0.116357 intron exact 1 10 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 73.000000,4935.000000, 0.014577,0.985423, 737 chr21 19974005 19974006 rs185510404 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19974016 19974017 rs770567472 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19974031 19974032 rs62216040 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 7 1000GENOMES,BCMHGSC_JDW,ENSEMBL,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19974041 19974042 rs17002769 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 3 1000GENOMES,PERLEGEN,WEILL_CORNELL_DGM, 2 C,T, 28.000000,4980.000000, 0.005591,0.994409, 737 chr21 19974085 19974086 rs140577566 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007959 0.062629 intron exact 1 SingleClassTriAllelic 6 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 3 A,C,T, 17.000000,4988.000000,3.000000, 0.003395,0.996006,0.000599, 737 chr21 19974130 19974131 rs775177237 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19974131 19974133 rs750807098 0 + AT AT -/AT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19974143 19974144 rs866940885 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19974153 19974154 rs758758234 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19974165 19974166 rs566509473 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19974171 19974172 rs189133037 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19974198 19974199 rs1569388 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.462909 0.131034 intron exact 1 31 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1822.000000,3186.000000, 0.363818,0.636182, maf-5-some-pop,maf-5-all-pops 737 chr21 19974213 19974214 rs755224778 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19974223 19974224 rs371916133 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19974240 19974241 rs575362551 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 6 1000GENOMES,DDI,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19974290 19974291 rs542309998 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19974297 19974298 rs570820843 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 737 chr21 19974325 19974326 rs528181820 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19974331 19974345 rs142696468 0 + AAAAAATTCATGTC AAAAAATTCATGTC -/AAAAAATTCATGTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.463343 0.130326 intron range 1 DuplicateObserved 10 1000GENOMES,BILGI_BIOE,BL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP, 2 -,AAAAAATTCATGTC, 3182.000000,1826.000000, 0.635383,0.364617, maf-5-some-pop,maf-5-all-pops 737 chr21 19974331 19974331 rs767661388 0 + - - -/AAAAAATTCATGTC genomic insertion unknown 0 0 intron between 1 DuplicateObserved 1 DDI, 0 737 chr21 19974333 19974347 rs142244980 0 + AAAATTCATGTCAA AAAATTCATGTCAA -/AAAATTCATGTCAA genomic deletion unknown 0 0 intron range 1 MixedObserved 2 HGSV,PJP, 0 737 chr21 19974333 19974334 rs200154244 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 737 chr21 19974334 19974335 rs201120752 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19974347 19974347 rs80010600 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 1 GMI, 0 737 chr21 19974375 19974376 rs539797113 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19974396 19974397 rs1569389 0 + A A A/C genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.462909 0.131034 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 1822.000000,3186.000000, 0.363818,0.636182, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19974440 19974441 rs181012611 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19974477 19974477 rs34483185 0 + - - -/G genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19974483 19974484 rs61016669 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,HGSV,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 737 chr21 19974515 19974516 rs187133794 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19974553 19974554 rs138333894 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19974659 19974660 rs750551783 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19974692 19974693 rs548695262 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19974762 19974763 rs149209597 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19974769 19974770 rs192153815 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19974820 19974821 rs558652267 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19974834 19974835 rs570840866 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19974923 19974924 rs11088688 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.455858 0.141853 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3248.000000,1760.000000, 0.648562,0.351438, maf-5-some-pop,maf-5-all-pops 737 chr21 19974955 19974956 rs556860873 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19974976 19974977 rs2824945 0 + T T G/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.455858 0.141853 intron exact 1 32 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 3248.000000,1760.000000, 0.648562,0.351438, maf-5-some-pop,maf-5-all-pops 737 chr21 19975056 19975057 rs61056839 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 6 1000GENOMES,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19975065 19975066 rs2824946 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.456095 0.141508 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3246.000000,1762.000000, 0.648163,0.351837, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19975066 19975067 rs183973454 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975067 19975068 rs138828971 0 + G G G/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 G,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19975094 19975095 rs777560911 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19975112 19975113 rs368971609 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19975121 19975122 rs2824947 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.455858 0.141853 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 1760.000000,3248.000000, 0.351438,0.648562, maf-5-some-pop,maf-5-all-pops 737 chr21 19975154 19975155 rs141940215 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975167 19975168 rs78947190 0 + A A A/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 A,T, 4990.000000,18.000000, 0.996406,0.003594, 737 chr21 19975196 19975196 rs35455155 0 + - - -/T/TT genomic insertion by-cluster,by-frequency,by-1000genomes 0.458545 0.137872 intron between 1 InconsistentAlleles 18 1000GENOMES,ABI,BGI,BILGI_BIOE,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, 2 -,T, 1783.000000,3225.000000, 0.356030,0.643970, maf-5-some-pop,maf-5-all-pops 737 chr21 19975204 19975205 rs74845806 0 + A A A/T genomic single by-cluster 0 0 intron exact 1 MixedObserved 3 BCM-HGSC-SUB,GMI,ILLUMINA, 0 737 chr21 19975204 19975204 rs397737855 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 GMI,HGSV, 0 737 chr21 19975230 19975231 rs74695385 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 4982.000000,26.000000, 0.994808,0.005192, 737 chr21 19975231 19975232 rs28404132 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.004781 0.048658 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSAHASNP, 2 A,G, 12.000000,4996.000000, 0.002396,0.997604, 737 chr21 19975261 19975262 rs13047041 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.455621 0.142197 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3250.000000,1758.000000, 0.648962,0.351038, maf-5-some-pop,maf-5-all-pops 737 chr21 19975263 19975264 rs868513386 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19975305 19975306 rs370814273 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19975399 19975400 rs560411161 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975421 19975422 rs527753404 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975444 19975444 rs145042053 0 + - - -/CCC genomic insertion unknown 0 0 intron between 1 1 PJP, 0 737 chr21 19975445 19975445 rs72552804 0 + - - -/CCC/TCC genomic insertion by-cluster,by-1000genomes 0 0 intron between 1 2 1000GENOMES,BGI, 0 737 chr21 19975446 19975447 rs116632705 0 + A A A/C genomic single by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 MixedObserved 2 1000GENOMES,BL, 2 A,C, 4949.000000,59.000000, 0.988219,0.011781, 737 chr21 19975446 19975446 rs34957748 0 + - - -/CCC genomic insertion by-cluster,by-frequency,by-1000genomes 0.455977 0.141681 intron between 1 MixedObserved 15 1000GENOMES,ABI,BCMHGSC_JDW,BILGI_BIOE,BL,DDI,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, 2 -,CCC, 1761.000000,3247.000000, 0.351637,0.648363, maf-5-some-pop,maf-5-all-pops 737 chr21 19975447 19975447 rs68190841 0 + - - -/CCC genomic insertion unknown 0 0 intron between 1 1 PJP, 0 737 chr21 19975454 19975455 rs570737234 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975467 19975468 rs757977181 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19975524 19975525 rs779630982 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19975549 19975550 rs770347170 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19975615 19975616 rs141260244 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19975617 19975618 rs549915696 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19975622 19975623 rs768935342 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19975658 19975659 rs112112099 0 + G G A/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.006768 0.05781 intron exact 1 SingleClassTriAllelic 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,G,T, 15.000000,4991.000000,2.000000, 0.002995,0.996605,0.000399, 737 chr21 19975733 19975734 rs372077585 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19975774 19975775 rs2824948 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.301177 0.244706 intron exact 1 22 1000GENOMES,ABI,AFFY,BL,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 925.000000,4083.000000, 0.184704,0.815296, maf-5-some-pop 737 chr21 19975799 19975800 rs185916934 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19975802 19975803 rs558664085 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975816 19975817 rs758919873 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19975858 19975859 rs576755112 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19975863 19975864 rs73893313 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19975864 19975865 rs562473516 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975889 19975890 rs766894061 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19975893 19975894 rs574756091 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19975894 19975895 rs376236628 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19975902 19975903 rs763082180 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19975918 19975919 rs560374341 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19975937 19975938 rs73893314 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19975941 19975942 rs766426515 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19976007 19976008 rs374642939 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,TISHKOFF, 0 737 chr21 19976030 19976031 rs866333263 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19976052 19976053 rs9978492 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.354665 0.227036 intron exact 1 19 1000GENOMES,ABI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3854.000000,1154.000000, 0.769569,0.230431, maf-5-some-pop 737 chr21 19976056 19976057 rs374627634 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19976059 19976060 rs73893315 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19976067 19976068 rs531714035 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19976080 19976081 rs550121361 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19976088 19976089 rs144202622 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19976094 19976095 rs535729732 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19976104 19976105 rs750763272 0 + G G -/G genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19976109 19976110 rs547709758 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19976110 19976111 rs75118635 0 + A A A/G genomic single by-frequency,by-1000genomes 0.041436 0.137845 intron exact 1 2 1000GENOMES,HAMMER_LAB, 2 A,G, 4902.000000,106.000000, 0.978834,0.021166, maf-5-some-pop 737 chr21 19976148 19976149 rs17002771 0 + A A A/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.070783 0.174302 intron exact 1 11 1000GENOMES,AFFY,EVA-GONL,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,KRIBB_YJKIM,PERLEGEN,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4824.000000,184.000000, 0.963259,0.036741, maf-5-some-pop 737 chr21 19976153 19976154 rs145515636 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19976168 19976169 rs2824949 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.356597 0.226135 intron exact 1 16 1000GENOMES,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PERLEGEN,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 3845.000000,1163.000000, 0.767772,0.232228, maf-5-some-pop,maf-5-all-pops 737 chr21 19976196 19976197 rs753731968 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19976203 19976207 rs569383496 0 + TAAT TAAT -/TAAT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 737 chr21 19976211 19976212 rs76302072 0 + A A A/C genomic single unknown 0 0 intron exact 1 SingleAlleleFreq 1 ENSEMBL, 1 C, 2.000000, 1.000000, 737 chr21 19976220 19976221 rs148419110 0 + A A A/G genomic single by-frequency,by-1000genomes 0.023285 0.105357 intron exact 1 1 1000GENOMES, 2 A,G, 4949.000000,59.000000, 0.988219,0.011781, 737 chr21 19976227 19976230 rs200757142 0 + ATT ATT -/ATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron range 1 1 1000GENOMES, 2 -,ATT, 29.000000,4979.000000, 0.005791,0.994209, 737 chr21 19976232 19976235 rs566044275 0 + TAT TAT -/TAT genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 737 chr21 19976244 19976245 rs556163811 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19976250 19976251 rs142932171 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19976286 19976287 rs60972993 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,HGSV,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19976312 19976313 rs554156707 0 + T T A/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,T, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19976325 19976326 rs572258597 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19976387 19976388 rs757083824 0 + C C A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19976393 19976394 rs13046880 0 + G G A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.479984 0.098017 intron exact 1 24 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 2003.000000,3005.000000, 0.399960,0.600040, maf-5-some-pop,maf-5-all-pops 737 chr21 19976438 19976439 rs78919486 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.075211 0.178743 intron exact 1 11 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4812.000000,196.000000, 0.960863,0.039137, maf-5-some-pop 737 chr21 19976447 19976448 rs531793950 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19976457 19976458 rs141338738 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19976464 19976465 rs561724825 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19976480 19976481 rs60799655 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 6 1000GENOMES,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19976504 19976505 rs115128949 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 3 1000GENOMES,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 35.000000,4973.000000, 0.006989,0.993011, 737 chr21 19976510 19976511 rs565993794 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19976541 19976542 rs116726859 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 4973.000000,35.000000, 0.993011,0.006989, 737 chr21 19976546 19976547 rs146875201 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,ILLUMINA, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19976551 19976552 rs190681241 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19976559 19976560 rs55757951 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.159292 0.232964 intron exact 1 12 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,HGSV,ILLUMINA-UK,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4571.000000,437.000000, 0.912740,0.087260, maf-5-some-pop 737 chr21 19976584 19976585 rs537933678 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19976628 19976629 rs75503225 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 7 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 81.000000,4927.000000, 0.016174,0.983826, maf-5-some-pop 737 chr21 19976659 19976660 rs754711135 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19976667 19976668 rs868457322 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19976670 19976671 rs981203 0 + C C C/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.411074 0.191194 intron exact 1 23 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,G, 3560.000000,1448.000000, 0.710863,0.289137, maf-5-some-pop,maf-5-all-pops 737 chr21 19976715 19976716 rs535398147 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19976723 19976724 rs539825076 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19976724 19976725 rs748579373 0 + C C A/C genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19976742 19976743 rs981204 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.356597 0.226135 intron exact 1 21 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 A,G, 1163.000000,3845.000000, 0.232228,0.767772, maf-5-some-pop,maf-5-all-pops 737 chr21 19976750 19976751 rs140559596 0 + T T C/T genomic single by-cluster,by-1000genomes 0 0 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19976796 19976797 rs572273569 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19976797 19976798 rs562463816 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19976857 19976858 rs58576620 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 6 1000GENOMES,HGSV,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19976858 19976859 rs749730695 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19976956 19976957 rs557918140 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19976957 19976958 rs576185578 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19976972 19976973 rs543507527 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19977016 19977017 rs138224057 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19977049 19977050 rs73202362 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19977069 19977070 rs544761693 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19977101 19977102 rs540981337 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19977144 19977145 rs149579227 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 9 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19977158 19977159 rs182660425 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19977217 19977218 rs143561514 0 + A A A/G genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,G, 4992.000000,16.000000, 0.996805,0.003195, 737 chr21 19977238 19977247 rs763564273 0 + AGTATAAAA AGTATAAAA -/AGTATAAAA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19977248 19977249 rs187345237 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19977267 19977268 rs371948093 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 WARNICH_LAB, 0 737 chr21 19977290 19977291 rs112218575 0 + C C A/C/T genomic single by-cluster,by-frequency,by-1000genomes 0.122167 0.215182 intron exact 1 SingleClassTriAllelic 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 3 A,C,T, 4.000000,4681.000000,323.000000, 0.000799,0.934704,0.064497, maf-5-some-pop,maf-5-all-pops 737 chr21 19977292 19977293 rs775847255 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19977305 19977306 rs201375658 0 + G G -/G genomic deletion by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 -,G, 151.000000,4857.000000, 0.030152,0.969848, maf-5-some-pop 737 chr21 19977310 19977311 rs568113490 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19977312 19977313 rs766947339 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19977316 19977317 rs535564156 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19977317 19977318 rs765065900 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19977372 19977373 rs190685725 0 + T T A/C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19977394 19977395 rs182974379 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19977395 19977396 rs77266216 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,GMI, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19977542 19977543 rs553166786 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 SSIP, 0 737 chr21 19977542 19977542 rs35575871 0 + - - -/C genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 737 chr21 19977567 19977568 rs6517819 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.435837 0.167226 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3401.000000,1607.000000, 0.679113,0.320887, maf-5-some-pop,maf-5-all-pops 737 chr21 19977588 19977589 rs193223720 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA-GONL,WEILL_CORNELL_DGM, 2 A,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19977620 19977621 rs573305604 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19977628 19977629 rs2406465 0 + A A A/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 TSC-CSHL, 1 A, 420.000000, 1.000000, 737 chr21 19977690 19977691 rs767977739 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19977830 19977831 rs184720809 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19977867 19977868 rs148040995 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19977881 19977882 rs751120681 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19977940 19977941 rs368736464 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19977946 19977947 rs372518108 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,SSMP, 2 C,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19977969 19977970 rs187228857 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19978025 19978026 rs559683958 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19978055 19978056 rs754442632 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19978068 19978069 rs375600596 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19978069 19978070 rs35245438 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.378174 0.214642 intron exact 1 MixedObserved 16 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP,TISHKOFF, 2 -,A, 3740.000000,1268.000000, 0.746805,0.253195, maf-5-some-pop,maf-5-all-pops 737 chr21 19978069 19978070 rs200716758 0 + A A A/G genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 737 chr21 19978069 19978070 rs869186709 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 DEVINE_LAB, 0 737 chr21 19978070 19978071 rs397820707 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 737 chr21 19978090 19978091 rs375885564 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19978110 19978111 rs545683374 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19978113 19978114 rs192259501 0 + G G A/C/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,SSMP, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19978128 19978129 rs531232859 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19978220 19978221 rs780883844 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19978234 19978235 rs569144705 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19978248 19978249 rs13049033 0 + A A A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 A, 420.000000, 1.000000, 737 chr21 19978263 19978264 rs538364543 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19978264 19978265 rs373487262 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19978303 19978304 rs376207447 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19978326 19978327 rs2824950 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.481242 0.095011 intron exact 1 24 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2019.000000,2989.000000, 0.403155,0.596845, maf-5-some-pop,maf-5-all-pops 737 chr21 19978352 19978353 rs373372196 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19978363 19978364 rs183976922 0 + T T A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19978367 19978368 rs756478638 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19978420 19978421 rs143609898 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.058485 0.160693 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 151.000000,4857.000000, 0.030152,0.969848, maf-5-some-pop 737 chr21 19978427 19978428 rs565666688 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19978435 19978436 rs749778657 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19978446 19978447 rs539100574 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19978535 19978536 rs533934885 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19978536 19978537 rs779252723 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19978540 19978541 rs573302124 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19978550 19978556 rs554109608 0 + TTAATT TTAATT -/TTAATT genomic deletion unknown 0 0 intron range 1 1 EVA-GONL, 0 737 chr21 19978557 19978558 rs574030587 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19978643 19978644 rs371553895 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19978687 19978688 rs569805275 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19978810 19978811 rs147228899 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19978813 19978814 rs535277647 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSIP,WEILL_CORNELL_DGM, 2 A,T, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19978887 19978888 rs16998290 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 3 1000GENOMES,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 4999.000000,9.000000, 0.998203,0.001797, 737 chr21 19978950 19978951 rs1556296 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.378174 0.214642 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1268.000000,3740.000000, 0.253195,0.746805, maf-5-some-pop 737 chr21 19978963 19978965 rs767747134 0 + AT AT -/AT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19978996 19978997 rs553240422 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979061 19979062 rs577963606 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979136 19979137 rs545035698 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979173 19979174 rs13339963 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.029504 0.117819 intron exact 1 11 1000GENOMES,BCM_SSAHASNP,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA-UK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 75.000000,4933.000000, 0.014976,0.985024, 737 chr21 19979174 19979175 rs181332651 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,G, 4942.000000,66.000000, 0.986821,0.013179, 737 chr21 19979213 19979214 rs543375192 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19979224 19979225 rs561443069 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19979226 19979227 rs184347870 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19979228 19979229 rs116775338 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.042583 0.139564 intron exact 1 3 1000GENOMES,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 4899.000000,109.000000, 0.978235,0.021765, maf-5-some-pop 737 chr21 19979264 19979265 rs762626788 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19979274 19979275 rs370494974 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19979295 19979296 rs78017407 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 737 chr21 19979335 19979336 rs559143699 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19979365 19979366 rs2824951 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.34526 0.23114 intron exact 1 18 1000GENOMES,ABI,BL,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3897.000000,1111.000000, 0.778155,0.221845, maf-5-some-pop 737 chr21 19979395 19979396 rs551063365 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19979463 19979464 rs569327874 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19979499 19979504 rs566429500 0 + TTTAC TTTAC -/TTTAC genomic deletion by-cluster,by-frequency,by-1000genomes 0.004383 0.04661 intron range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TTTAC, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19979516 19979518 rs538767247 0 + AG AG -/AG genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AG, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19979532 19979533 rs530700155 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19979537 19979538 rs548895022 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979571 19979572 rs567124505 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19979579 19979580 rs534557699 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979622 19979623 rs368243937 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19979638 19979639 rs571621174 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979686 19979687 rs372484540 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 2 HAMMER_LAB,SSMP, 0 737 chr21 19979701 19979702 rs751439840 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19979707 19979708 rs7282592 0 + A A A/C genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.05246 0.153226 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 135.000000,4873.000000, 0.026957,0.973043, maf-5-some-pop 737 chr21 19979719 19979720 rs142704299 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19979724 19979725 rs189194263 0 + G G G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19979762 19979763 rs575734329 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19979794 19979795 rs543339355 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979795 19979796 rs555341199 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19979804 19979805 rs368439362 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19979823 19979824 rs540424709 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19979824 19979825 rs565498466 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19979905 19979906 rs532854588 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19980008 19980010 rs764211170 0 + TG TG -/TG genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980016 19980017 rs112491797 0 + T T C/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19980043 19980044 rs752380276 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980044 19980045 rs554296398 0 + G G C/T genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 737 chr21 19980046 19980047 rs545123460 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19980058 19980059 rs755717922 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980098 19980099 rs779805728 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19980136 19980137 rs564792674 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19980182 19980183 rs746683191 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19980195 19980196 rs530473466 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19980211 19980212 rs181804687 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19980267 19980270 rs552492835 0 + TAT TAT -/TAT genomic deletion by-frequency,by-1000genomes 0.001596 0.028205 intron range 1 1 1000GENOMES, 2 -,TAT, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19980285 19980286 rs567183632 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19980301 19980304 rs758365231 0 + AAC AAC -/AAC genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980337 19980338 rs754266393 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980367 19980368 rs757554392 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980389 19980390 rs13046053 0 + T T A/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 T, 420.000000, 1.000000, 737 chr21 19980465 19980466 rs150710485 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19980487 19980488 rs13049781 0 + C C A/C genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 SSAHASNP, 1 C, 420.000000, 1.000000, 737 chr21 19980488 19980489 rs13050240 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 737 chr21 19980496 19980497 rs577823851 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19980523 19980524 rs560040133 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19980532 19980533 rs186571976 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19980559 19980560 rs139105712 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.010329 0.07112 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 4982.000000,26.000000, 0.994808,0.005192, 737 chr21 19980569 19980570 rs538732674 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19980571 19980572 rs13049056 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 737 chr21 19980591 19980592 rs868171705 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19980602 19980603 rs190634015 0 + A A A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19980613 19980614 rs569264791 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19980645 19980646 rs536607909 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19980664 19980665 rs181681083 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19980678 19980679 rs555003872 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19980731 19980735 rs776032511 0 + TGAG TGAG -/TGAG genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19980733 19980734 rs761316428 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19980777 19980778 rs573548439 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19980822 19980823 rs772282596 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980835 19980837 rs779762629 0 + GA GA -/GA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980835 19980836 rs780240133 0 + G G A/G genomic single unknown 0 0 intron exact 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980836 19980837 rs747255781 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19980872 19980873 rs540937485 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19980889 19980890 rs558870757 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19980917 19980918 rs372812161 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19980940 19980941 rs577396116 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19980945 19980946 rs555171630 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19981028 19981029 rs769042120 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981032 19981033 rs149912598 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19981059 19981060 rs563085869 0 + T T A/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19981076 19981077 rs186277580 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19981077 19981078 rs531944833 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19981090 19981091 rs542171518 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19981102 19981103 rs560564080 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19981118 19981119 rs372284880 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19981169 19981170 rs776714270 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981218 19981219 rs117856971 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 8 1000GENOMES,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP, 2 C,T, 4957.000000,51.000000, 0.989816,0.010184, maf-5-some-pop 737 chr21 19981219 19981220 rs560305994 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19981264 19981265 rs770577007 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981322 19981323 rs774354136 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981345 19981346 rs759355001 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981374 19981375 rs767038873 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981375 19981376 rs546897920 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19981398 19981399 rs147797558 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 2 1000GENOMES,LUNTER, 2 -,A, 49.000000,4959.000000, 0.009784,0.990216, 737 chr21 19981405 19981406 rs191279914 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19981441 19981442 rs752249483 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981448 19981449 rs529579521 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19981452 19981453 rs144939369 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19981454 19981455 rs550805118 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19981494 19981495 rs760144592 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981558 19981559 rs75747478 0 + A A A/G genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19981564 19981565 rs2824952 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.486487 0.081079 intron exact 1 22 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSMP,WEILL_CORNELL_DGM, 2 A,G, 2819.000000,2023.000000, 0.582197,0.417803, maf-5-some-pop,maf-5-all-pops 737 chr21 19981565 19981567 rs201673192 0 + CT CT -/CT genomic deletion by-cluster,by-frequency,by-1000genomes 0.105038 0.203681 intron range 1 1 1000GENOMES, 2 -,CT, 166.000000,2819.000000, 0.055611,0.944389, maf-5-some-pop 737 chr21 19981566 19981567 rs7278463 0 + T T A/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.042965 0.14013 intron exact 1 5 1000GENOMES,BCM_SSAHASNP,ILLUMINA,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,T, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 737 chr21 19981569 19981570 rs869190610 0 + C C -/C genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 737 chr21 19981571 19981572 rs35548115 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 ABI, 0 737 chr21 19981590 19981591 rs562923951 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981648 19981649 rs113499707 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19981676 19981677 rs757653159 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981686 19981687 rs868233845 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19981690 19981691 rs183083659 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19981725 19981726 rs187689274 0 + C C C/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19981763 19981764 rs531573415 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19981798 19981799 rs867008218 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19981807 19981808 rs765453819 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981808 19981809 rs534205752 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19981853 19981854 rs190812033 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19981879 19981880 rs760828099 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19981904 19981905 rs7278963 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.031825 0.122064 intron exact 1 6 1000GENOMES,BCM_SSAHASNP,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 81.000000,4927.000000, 0.016174,0.983826, 737 chr21 19981905 19981906 rs149687885 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 MixedObserved 1 PJP, 0 737 chr21 19981905 19981906 rs538012758 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19981909 19981910 rs9981026 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.049053 0.14873 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 4882.000000,126.000000, 0.974840,0.025160, maf-5-some-pop 737 chr21 19981913 19981914 rs551863197 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19981934 19981935 rs574969282 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19981939 19981940 rs780677633 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19981966 19981967 rs112637410 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19981969 19981970 rs187939636 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19982011 19982012 rs572839260 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19982047 19982048 rs77401994 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.018594 0.094611 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4961.000000,47.000000, 0.990615,0.009385, 737 chr21 19982048 19982049 rs140151377 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19982067 19982068 rs547652384 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19982086 19982087 rs532308565 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 G,T, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19982104 19982105 rs371666588 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19982163 19982164 rs750411322 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19982182 19982183 rs550766379 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19982227 19982228 rs375013325 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19982229 19982230 rs562687574 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19982250 19982251 rs758303547 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19982280 19982281 rs770795819 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19982281 19982282 rs76683680 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 737 chr21 19982292 19982293 rs567453018 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19982334 19982335 rs113981516 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19982348 19982349 rs746773839 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19982371 19982372 rs768211695 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19982401 19982402 rs192031142 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19982451 19982452 rs566749203 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19982460 19982461 rs534240112 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19982476 19982477 rs552301789 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19982480 19982481 rs143795069 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19982483 19982484 rs772033907 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19982548 19982549 rs184220242 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19982606 19982607 rs146879120 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19982684 19982685 rs73893316 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 4 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 49.000000,4959.000000, 0.009784,0.990216, 737 chr21 19982704 19982705 rs535936694 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19982773 19982774 rs780960850 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19982774 19982775 rs554687408 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19982793 19982794 rs536577710 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19982800 19982801 rs747739181 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19982837 19982838 rs572860156 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19982886 19982887 rs540179076 0 + T T C/G/T genomic single by-frequency,by-1000genomes 0.003987 0.0445 intron exact 1 SingleClassTriAllelic 1 1000GENOMES, 3 C,G,T, 7.000000,3.000000,4998.000000, 0.001398,0.000599,0.998003, 737 chr21 19982891 19982892 rs577174940 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19982923 19982924 rs775400006 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19982924 19982925 rs760232538 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19982933 19982934 rs116997953 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19982977 19982978 rs562652712 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19982988 19982989 rs776350537 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19983012 19983013 rs369305656 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19983015 19983016 rs529962627 0 + A A A/T genomic single by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 1 1000GENOMES, 2 A,T, 4992.000000,16.000000, 0.996805,0.003195, 737 chr21 19983067 19983068 rs375529932 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19983136 19983137 rs542334026 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19983160 19983161 rs373032745 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19983179 19983180 rs188468795 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19983184 19983185 rs761331499 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19983235 19983240 rs200036424 0 + AACTC AACTC -/AACTC genomic deletion by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron range 1 1 1000GENOMES, 2 -,AACTC, 35.000000,4973.000000, 0.006989,0.993011, 737 chr21 19983254 19983255 rs1474542 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.410399 0.191761 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1444.000000,3564.000000, 0.288339,0.711661, maf-5-some-pop,maf-5-all-pops 737 chr21 19983327 19983328 rs538213416 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19983362 19983363 rs575180524 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19983390 19983391 rs552518112 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19983391 19983392 rs558621128 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19983424 19983425 rs17002773 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 3 1000GENOMES,PERLEGEN,WEILL_CORNELL_DGM, 2 A,G, 38.000000,4970.000000, 0.007588,0.992412, 737 chr21 19983436 19983437 rs531860549 0 + C C A/C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19983437 19983438 rs115607455 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.026399 0.111815 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 67.000000,4941.000000, 0.013379,0.986621, 737 chr21 19983441 19983442 rs558957903 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19983476 19983477 rs752057431 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19983479 19983480 rs535609837 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19983485 19983486 rs554075144 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19983507 19983508 rs566533498 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19983536 19983537 rs755116576 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19983608 19983609 rs571851056 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,EVA_DECODE, 0 737 chr21 19983628 19983629 rs112625807 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19983643 19983644 rs369760128 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19983669 19983670 rs558509164 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19983696 19983697 rs781095178 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19983720 19983721 rs540711253 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19983736 19983737 rs374779043 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19983773 19983774 rs192822765 0 + C C A/C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19983808 19983809 rs143663817 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19983812 19983813 rs8131098 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.408017 0.193729 intron exact 1 32 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 3578.000000,1430.000000, 0.714457,0.285543, maf-5-some-pop,maf-5-all-pops 737 chr21 19983813 19983814 rs865831024 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19983849 19983850 rs9974998 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.480302 0.097267 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 2007.000000,3001.000000, 0.400759,0.599241, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19983914 19983915 rs778021929 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19983916 19983917 rs541964024 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19983945 19983947 rs754657237 0 + AA AA -/AA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984000 19984001 rs57764299 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 HGSV, 0 737 chr21 19984055 19984056 rs151028755 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 MixedObserved 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19984055 19984064 rs780889125 0 + ATTTTGCGA ATTTTGCGA -/ATTTTGCGA genomic deletion by-cluster 0 0 intron range 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984061 19984062 rs77295167 0 + C C C/T genomic single by-1000genomes 0.016806 0.090113 intron exact 1 1 1000GENOMES, 2 C,T, 117.000000,1.000000, 0.991525,0.008475, 737 chr21 19984062 19984063 rs73893317 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.019377 0.096505 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 49.000000,4959.000000, 0.009784,0.990216, 737 chr21 19984069 19984070 rs184822160 0 + G G A/C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19984179 19984180 rs189427192 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984187 19984188 rs531633004 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19984203 19984204 rs549770032 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984255 19984256 rs2824953 0 + C C C/G genomic single by-submitter,by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 PERLEGEN, 1 C, 418.000000, 1.000000, 737 chr21 19984274 19984275 rs771839330 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984276 19984277 rs113800696 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 SingleAlleleFreq 2 BUSHMAN,JMKIDD_LAB, 1 A, 1.000000, 1.000000, 737 chr21 19984286 19984287 rs775416561 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984347 19984348 rs568366927 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19984379 19984380 rs529563182 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984407 19984408 rs547936841 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984434 19984435 rs150227715 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19984449 19984450 rs746880726 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984494 19984495 rs533864211 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984511 19984512 rs768242122 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984577 19984578 rs558415210 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984587 19984588 rs775955042 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984613 19984614 rs111236752 0 + G G G/T genomic single by-cluster,by-frequency 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 G,T, 2.000000,2.000000, 0.500000,0.500000, 737 chr21 19984614 19984615 rs570454726 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984642 19984643 rs758809558 0 + T T -/T genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984660 19984661 rs9978638 0 + C C C/T genomic single by-hapmap 0 0 intron exact 1 SingleAlleleFreq 1 WUGSC_SSAHASNP, 1 C, 420.000000, 1.000000, 737 chr21 19984697 19984698 rs142174192 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.05811 0.160244 intron exact 1 5 1000GENOMES,EVA-GONL,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4858.000000,150.000000, 0.970048,0.029952, maf-5-some-pop 737 chr21 19984698 19984699 rs111697175 0 + G G A/G genomic single unknown 0.5 0 intron exact 1 1 COMPLETE_GENOMICS, 2 A,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19984708 19984709 rs7275930 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.378174 0.214642 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3740.000000,1268.000000, 0.746805,0.253195, maf-5-some-pop,maf-5-all-pops 737 chr21 19984709 19984710 rs181076991 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 A,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19984713 19984714 rs7280550 0 + C C C/T genomic single by-cluster 0.5 0 intron exact 1 2 BCM_SSAHASNP,HUMANGENOME_JCVI, 2 C,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19984719 19984720 rs541776960 0 + T T C/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 C,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19984723 19984724 rs9981516 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 737 chr21 19984725 19984726 rs9978656 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WUGSC_SSAHASNP, 0 737 chr21 19984749 19984750 rs764865954 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984750 19984751 rs772986608 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984762 19984763 rs553919072 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984771 19984772 rs763426284 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984817 19984818 rs375164250 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19984828 19984829 rs766784680 0 + C C A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19984846 19984847 rs184836146 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19984866 19984867 rs377507125 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19984867 19984868 rs546266923 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19984878 19984900 rs753708597 0 + AAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA -/AAAAAAAAAAAAAAAAAAAAAA genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 737 chr21 19984885 19984907 rs748583825 0 + AAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA -/AAAAAAAAAAAAAAAAAAAAAA genomic deletion unknown 0 0 intron range 1 1 EVA_GENOME_DK, 0 737 chr21 19984908 19984911 rs58921112 0 + AAA AAA -/AAA genomic deletion unknown 0 0 intron range 1 1 HGSV, 0 737 chr21 19984910 19984911 rs10602971 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 2 ABI,PJP, 0 737 chr21 19984910 19984911 rs869167183 0 + A A -/A genomic deletion unknown 0 0 intron exact 1 DuplicateObserved 1 HUMANGENOME_JCVI, 0 737 chr21 19984914 19984916 rs147046885 0 + TG TG -/TG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 737 chr21 19984968 19984969 rs760074146 0 + G G C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985014 19985015 rs73893318 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 61.000000,4947.000000, 0.012180,0.987819, 737 chr21 19985061 19985062 rs576129035 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19985062 19985063 rs768050054 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985165 19985166 rs6517820 0 + A A A/G genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.040671 0.13668 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 104.000000,4904.000000, 0.020767,0.979233, maf-5-some-pop 737 chr21 19985169 19985170 rs561761518 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19985187 19985188 rs79289896 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 737 chr21 19985210 19985211 rs756210176 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985263 19985264 rs548294191 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19985285 19985286 rs777910700 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985290 19985291 rs111394140 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19985345 19985346 rs559895770 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19985359 19985360 rs375490043 0 + C C C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,JMKIDD_LAB,SSMP, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19985370 19985371 rs189590804 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19985393 19985394 rs73893319 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.024064 0.107019 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 61.000000,4947.000000, 0.012180,0.987819, 737 chr21 19985450 19985450 rs747374588 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985495 19985498 rs533922694 0 + AAC AAC -/AAC genomic deletion by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 1 1000GENOMES, 2 -,AAC, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19985512 19985520 rs199984613 0 + ACACACAC ACACACAC -/ACACACAC genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 737 chr21 19985512 19985518 rs200757299 0 + ACACAC ACACAC -/ACACAC genomic deletion by-cluster 0 0 intron range 1 MixedObserved 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI, 0 737 chr21 19985514 19985514 rs201089081 0 + - - -/AG genomic insertion by-1000genomes 0 0 intron between 1 1 1000GENOMES, 0 737 chr21 19985515 19985516 rs201956324 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19985517 19985518 rs753999720 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985518 19985518 rs754609826 0 + - - -/AC genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985547 19985553 rs71191411 0 + CACACA CACACA -/CACACA genomic deletion unknown 0 0 intron range 1 MixedObserved,SingleAlleleFreq 1 HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 737 chr21 19985547 19985548 rs867624126 0 + C C C/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 WEILL_CORNELL_DGM, 0 737 chr21 19985550 19985550 rs113839999 0 + - - -/ACAT genomic insertion unknown 0.5 0 intron between 1 1 BUSHMAN, 2 -,ACAT, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19985552 19985553 rs144590488 0 + A A A/C genomic single by-cluster,by-1000genomes 0 0 intron exact 1 3 1000GENOMES,GMI,WEILL_CORNELL_DGM, 0 737 chr21 19985553 19985553 rs58429869 0 + - - -/CACA/CACACC genomic insertion unknown 0 0 intron between 1 2 EVA_GENOME_DK,HGSV, 0 737 chr21 19985589 19985590 rs181960965 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19985590 19985591 rs567169621 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19985627 19985628 rs758191102 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985654 19985655 rs7276596 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.410061 0.192043 intron exact 1 26 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1442.000000,3566.000000, 0.287939,0.712061, maf-5-some-pop,maf-5-all-pops 737 chr21 19985657 19985658 rs147990542 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19985682 19985683 rs13049244 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSAHASNP, 0 737 chr21 19985684 19985685 rs768524636 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985686 19985687 rs535720610 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19985697 19985698 rs112813117 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19985698 19985699 rs796414300 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 737 chr21 19985716 19985717 rs544141836 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 3 1000GENOMES,SSIP,WEILL_CORNELL_DGM, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 737 chr21 19985744 19985745 rs539209609 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19985745 19985746 rs186851016 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19985820 19985821 rs576092345 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19985848 19985849 rs7277428 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.407845 0.193868 intron exact 1 28 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,G, 1429.000000,3579.000000, 0.285343,0.714657, maf-5-some-pop,maf-5-all-pops 737 chr21 19985854 19985855 rs561724864 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19985861 19985862 rs769290557 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19985911 19985912 rs773005181 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 737 chr21 19985991 19985992 rs141624696 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986006 19986007 rs541702207 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986009 19986010 rs762657803 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19986099 19986100 rs191584166 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19986134 19986135 rs150548339 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19986143 19986144 rs771446716 0 + T T C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19986192 19986193 rs139840851 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19986245 19986246 rs563890365 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986278 19986279 rs531421297 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986324 19986325 rs549933053 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986329 19986330 rs774908754 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19986449 19986450 rs547889243 0 + C C C/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19986450 19986451 rs568051887 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19986457 19986458 rs866311723 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19986463 19986496 rs554174418 0 + ATGTTTTTTACCTATGTCACCATTCTCATTACA ATGTTTTTTACCTATGTCACCATTCTCATTACA lengthTooLong genomic in-del by-frequency,by-1000genomes 0.001197 0.024439 intron range 1 ObservedTooLong 1 1000GENOMES, 2 -,ATGTTTTTTACCTATGTCACCATTCTCATTACA, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19986466 19986467 rs560140439 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 1 1000GENOMES, 2 -,T, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19986472 19986473 rs143807302 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02601 0.111035 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4942.000000,66.000000, 0.986821,0.013179, 737 chr21 19986489 19986490 rs541604907 0 + C C A/G genomic single unknown 0 0 intron exact 1 ObservedMismatch 1 ILLUMINA, 0 observed-mismatch 737 chr21 19986508 19986509 rs547371204 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19986523 19986524 rs565806192 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19986529 19986530 rs146352013 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19986642 19986643 rs554611344 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19986643 19986644 rs567488279 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19986653 19986654 rs139769560 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19986677 19986678 rs569543099 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19986695 19986696 rs529877966 0 + T T G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986714 19986715 rs555481662 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986805 19986806 rs574089086 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986825 19986826 rs181119115 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986832 19986833 rs553355591 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19986842 19986843 rs578163722 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986845 19986846 rs186508898 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19986868 19986869 rs372539858 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19986875 19986876 rs753230037 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19986881 19986882 rs189699686 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19986882 19986883 rs531179027 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986887 19986888 rs543250972 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986895 19986896 rs182290543 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19986972 19986973 rs764091649 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19987002 19987003 rs529003580 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19987015 19987016 rs375642764 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19987096 19987097 rs547043278 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19987110 19987111 rs565703319 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19987131 19987132 rs754089761 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19987144 19987145 rs112376107 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19987164 19987165 rs551309445 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19987178 19987179 rs117438131 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 C,T, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19987235 19987236 rs1556297 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-1000genomes 0.377187 0.215229 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3745.000000,1263.000000, 0.747804,0.252196, maf-5-some-pop 737 chr21 19987269 19987270 rs754789129 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19987302 19987303 rs185142048 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19987318 19987319 rs567627761 0 + A A A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19987415 19987416 rs111505797 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19987429 19987430 rs546112209 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 2 EVA_DECODE,JMKIDD_LAB, 0 737 chr21 19987466 19987467 rs150068561 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.059985 0.162463 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,T, 4853.000000,155.000000, 0.969050,0.030950, maf-5-some-pop 737 chr21 19987537 19987538 rs769219668 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19987558 19987559 rs777372249 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19987605 19987606 rs1556298 0 + T T A/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.377187 0.215229 intron exact 1 31 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,T, 3745.000000,1263.000000, 0.747804,0.252196, maf-5-some-pop,maf-5-all-pops 737 chr21 19987610 19987611 rs1556299 0 + C C C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.389903 0.207189 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1329.000000,3679.000000, 0.265375,0.734625, maf-5-some-pop,maf-5-all-pops 737 chr21 19987640 19987641 rs557644566 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19987656 19987657 rs769114912 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19987679 19987680 rs1556300 0 + T T G/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.377582 0.214995 intron exact 1 31 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 G,T, 3743.000000,1265.000000, 0.747404,0.252596, maf-5-some-pop,maf-5-all-pops 737 chr21 19987680 19987681 rs762056008 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19987722 19987723 rs201546823 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19987745 19987746 rs190783616 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19987746 19987747 rs561544978 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19987795 19987796 rs117154131 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.008351 0.064078 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,WEILL_CORNELL_DGM, 2 A,C, 21.000000,4987.000000, 0.004193,0.995807, 737 chr21 19987849 19987850 rs183262460 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19987884 19987885 rs772419087 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19987914 19987915 rs1556301 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.4087 0.193169 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3574.000000,1434.000000, 0.713658,0.286342, maf-5-some-pop,maf-5-all-pops 737 chr21 19987915 19987916 rs188507647 0 + T T A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19987956 19987957 rs377145622 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA-GONL,WARNICH_LAB, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19987965 19987966 rs761201920 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19987980 19987981 rs564047514 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19987992 19987993 rs569567834 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19988007 19988008 rs556715610 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19988021 19988022 rs74588545 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 13 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,ILLUMINA,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4814.000000,194.000000, 0.961262,0.038738, maf-5-some-pop 737 chr21 19988032 19988033 rs149148364 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19988038 19988039 rs534787689 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19988040 19988041 rs547121540 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19988051 19988052 rs765510071 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988097 19988098 rs868335749 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19988098 19988099 rs750601477 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988122 19988123 rs571661802 0 + T T C/T genomic single by-1000genomes 0 0 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 0.000000,5008.000000, 0.000000,1.000000, 737 chr21 19988124 19988125 rs192986856 0 + T T C/T genomic single by-frequency,by-1000genomes 0.004383 0.04661 intron exact 1 1 1000GENOMES, 2 C,T, 11.000000,4997.000000, 0.002196,0.997804, 737 chr21 19988247 19988248 rs77684075 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.036451 0.129988 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 93.000000,4915.000000, 0.018570,0.981430, maf-5-some-pop 737 chr21 19988249 19988250 rs1556302 0 + T T C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.406641 0.194842 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 3586.000000,1422.000000, 0.716054,0.283946, maf-5-some-pop,maf-5-all-pops 737 chr21 19988258 19988259 rs536979140 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19988265 19988266 rs183275486 0 + A A A/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 2 A,T, 5008.000000,0.000000, 1.000000,0.000000, 737 chr21 19988284 19988285 rs573430358 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19988288 19988289 rs188104736 0 + T T G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19988311 19988312 rs76842182 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19988335 19988336 rs752599999 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988376 19988377 rs867052843 0 + G G C/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19988424 19988425 rs376798675 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19988432 19988433 rs751561865 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19988464 19988465 rs756172556 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988489 19988490 rs577517994 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19988496 19988497 rs532675119 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19988508 19988509 rs777825555 0 + T T C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988509 19988510 rs867561803 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19988520 19988521 rs866378770 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19988530 19988531 rs371681414 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19988562 19988563 rs142269857 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19988563 19988564 rs147906587 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19988584 19988585 rs756810550 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988586 19988587 rs565305775 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19988603 19988604 rs778717475 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988643 19988644 rs376240737 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19988647 19988648 rs745455138 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988665 19988666 rs74504504 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 9 1000GENOMES,CHURCH_CG54K,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4851.000000,157.000000, 0.968650,0.031350, maf-5-some-pop 737 chr21 19988671 19988672 rs191353842 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,C, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19988694 19988695 rs71318144 0 + G G -/G genomic deletion unknown 0.5 0 intron exact 1 1 HUMANGENOME_JCVI, 2 -,G, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19988719 19988720 rs146006519 0 + G G G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19988727 19988728 rs541553184 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19988757 19988758 rs373062367 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19988766 19988767 rs546477383 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19988833 19988834 rs111854114 0 + C C C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19988868 19988869 rs775873019 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988871 19988872 rs747312298 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19988910 19988911 rs539149697 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19988916 19988917 rs550976609 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19988979 19988980 rs752489169 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19988986 19988987 rs569300932 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19989024 19989025 rs536540386 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989041 19989042 rs777117281 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 737 chr21 19989051 19989052 rs555283297 0 + C C C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19989052 19989053 rs138859179 0 + G G A/G genomic single by-cluster,by-1000genomes 0 0 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 0 737 chr21 19989069 19989070 rs540244526 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19989077 19989078 rs548178299 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19989134 19989135 rs868668221 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19989225 19989226 rs534355889 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19989248 19989248 rs748318621 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19989256 19989257 rs865945475 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19989268 19989269 rs558907434 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989283 19989284 rs577285389 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19989307 19989308 rs544739272 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989320 19989321 rs867785258 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19989347 19989348 rs562925072 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19989351 19989352 rs574942605 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19989366 19989367 rs568209040 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19989420 19989421 rs534066386 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19989421 19989422 rs542550723 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 C,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19989476 19989477 rs561198999 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19989494 19989495 rs765233994 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19989554 19989555 rs528395315 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989558 19989559 rs546736885 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989605 19989606 rs183655873 0 + T T C/G/T genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 6.000000,5002.000000, 0.001198,0.998802, 737 chr21 19989675 19989676 rs532628479 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989687 19989688 rs766491322 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19989709 19989710 rs188363473 0 + T T G/T genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 G,T, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19989710 19989711 rs769951823 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19989731 19989732 rs569264821 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19989740 19989741 rs777500382 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19989753 19989754 rs530062928 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989767 19989768 rs866028789 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19989778 19989779 rs755973383 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19989790 19989791 rs529901689 0 + C C C/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19989832 19989833 rs548295025 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989866 19989867 rs114671658 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4990.000000,18.000000, 0.996406,0.003594, 737 chr21 19989890 19989891 rs377408129 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,SSMP, 2 G,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19989895 19989896 rs76360576 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.074475 0.178019 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 194.000000,4814.000000, 0.038738,0.961262, maf-5-some-pop 737 chr21 19989936 19989937 rs556388491 0 + G G A/G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19989941 19989942 rs778254554 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19989953 19989954 rs538345344 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19989954 19989955 rs563484185 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 4 EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19989989 19989990 rs114185411 0 + T T C/T genomic single by-frequency,by-1000genomes 0.012304 0.077462 intron exact 1 1 1000GENOMES, 2 C,T, 31.000000,4977.000000, 0.006190,0.993810, 737 chr21 19989999 19990000 rs140281917 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,C, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19990001 19990002 rs868324797 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19990007 19990008 rs542578355 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19990065 19990066 rs192351873 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19990066 19990067 rs150387328 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19990084 19990085 rs540183698 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19990100 19990101 rs185585617 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,HAMMER_LAB,JMKIDD_LAB,TISHKOFF, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19990123 19990129 rs759563252 0 + ATACTT ATACTT -/ATACTT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19990124 19990125 rs778444934 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19990145 19990146 rs532387514 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19990147 19990148 rs190199970 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19990148 19990149 rs758117232 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 737 chr21 19990200 19990201 rs562922885 0 + A A A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19990227 19990228 rs530158433 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19990234 19990237 rs202001878 0 + TAT TAT -/TAT genomic deletion by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron range 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,LUNTER, 2 -,TAT, 22.000000,4986.000000, 0.004393,0.995607, 737 chr21 19990301 19990302 rs9305873 0 + C C C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.377385 0.215112 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SC_SNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1264.000000,3744.000000, 0.252396,0.747604, maf-5-some-pop,maf-5-all-pops 737 chr21 19990309 19990310 rs566788357 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19990310 19990311 rs747472893 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19990336 19990337 rs559956541 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19990420 19990421 rs555443372 0 + A A A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19990445 19990446 rs552501161 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19990458 19990459 rs570703381 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19990484 19990485 rs565352085 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19990499 19990500 rs538011103 0 + T T A/T genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19990517 19990518 rs73893321 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4978.000000,30.000000, 0.994010,0.005990, 737 chr21 19990528 19990529 rs867406601 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19990564 19990565 rs768995545 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19990581 19990582 rs76570113 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.041054 0.137264 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 4903.000000,105.000000, 0.979034,0.020967, maf-5-some-pop 737 chr21 19990589 19990589 rs35758056 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19990661 19990662 rs534282072 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 2 EVA-GONL,JMKIDD_LAB, 0 737 chr21 19990666 19990667 rs535995905 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19990670 19990671 rs181898830 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19990692 19990693 rs572796545 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19990693 19990694 rs769885543 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19990755 19990756 rs773392720 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19990765 19990766 rs541157653 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19990783 19990784 rs547887335 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19990794 19990795 rs558850328 0 + G G G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19990809 19990810 rs186424368 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.008747 0.065553 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 C,T, 22.000000,4986.000000, 0.004393,0.995607, 737 chr21 19990842 19990843 rs544392814 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19990921 19990922 rs562689479 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19990926 19990927 rs149458590 0 + T T G/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 G,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19990932 19990933 rs532709069 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19990953 19990954 rs771255792 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991004 19991005 rs541987557 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19991013 19991014 rs748442134 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19991016 19991017 rs796869336 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 HAMMER_LAB, 0 737 chr21 19991023 19991024 rs143850640 0 + G G G/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,HAMMER_LAB,WEILL_CORNELL_DGM, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991025 19991026 rs770013480 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19991052 19991053 rs773493817 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19991091 19991091 rs567864387 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 5 EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991109 19991110 rs527727859 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991144 19991145 rs552165560 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991147 19991148 rs774426927 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991148 19991149 rs760556486 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991171 19991172 rs763911005 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991172 19991173 rs546093210 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19991212 19991213 rs371298841 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19991271 19991272 rs374345183 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19991274 19991275 rs564394540 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991306 19991307 rs753855267 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991346 19991347 rs867509426 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19991357 19991358 rs531896541 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19991359 19991360 rs529015869 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19991424 19991425 rs761791530 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991428 19991429 rs548774313 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19991441 19991442 rs765062439 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991444 19991445 rs368734118 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19991446 19991447 rs568586971 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991514 19991515 rs188411603 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991542 19991543 rs749989020 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991546 19991547 rs371057903 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19991578 19991579 rs150762430 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 BL, 0 737 chr21 19991586 19991587 rs77529137 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 737 chr21 19991613 19991614 rs367858411 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19991623 19991624 rs116246996 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 737 chr21 19991633 19991634 rs533722154 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19991635 19991636 rs2824954 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.377977 0.21476 intron exact 1 33 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3741.000000,1267.000000, 0.747005,0.252995, maf-5-some-pop,maf-5-all-pops 737 chr21 19991655 19991656 rs181269717 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011909 0.076241 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 30.000000,4978.000000, 0.005990,0.994010, 737 chr21 19991659 19991660 rs376242624 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19991672 19991673 rs751146459 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991706 19991707 rs184896268 0 + G G A/G genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,G, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19991756 19991757 rs556302672 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991769 19991770 rs2824955 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.345037 0.231231 intron exact 1 20 1000GENOMES,ABI,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 3898.000000,1110.000000, 0.778355,0.221645, maf-5-some-pop 737 chr21 19991778 19991779 rs141604052 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991795 19991796 rs767293398 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19991809 19991810 rs189756386 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.007559 0.061011 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,G, 19.000000,4989.000000, 0.003794,0.996206, 737 chr21 19991834 19991835 rs781488400 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19991843 19991844 rs111961013 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19991902 19991903 rs545766587 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19991923 19991924 rs73314341 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,G, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 737 chr21 19991932 19991933 rs73893322 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 5 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19991944 19991945 rs550102917 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19991960 19991961 rs753492702 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992029 19992030 rs374878681 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,GMI, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992030 19992031 rs115994962 0 + G G A/G genomic single by-frequency,by-1000genomes 0.033324 0.124705 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,116.000000, 0.016949,0.983051, 737 chr21 19992038 19992039 rs2824956 0 + G G C/G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.376791 0.215463 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,G, 3747.000000,1261.000000, 0.748203,0.251797, maf-5-some-pop,maf-5-all-pops 737 chr21 19992062 19992063 rs547980335 0 + G G C/G genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 C,G, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19992075 19992076 rs749446828 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992077 19992078 rs770862843 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992100 19992101 rs139722540 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 20.000000,4988.000000, 0.003994,0.996006, 737 chr21 19992122 19992123 rs572480381 0 + A A A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992149 19992150 rs533895558 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992150 19992151 rs552180794 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992188 19992189 rs759788520 0 + T T A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992189 19992190 rs184022126 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19992205 19992206 rs142917561 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992206 19992207 rs187418502 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992215 19992216 rs73893323 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.012698 0.078662 intron exact 1 4 1000GENOMES,ILLUMINA-UK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4976.000000,32.000000, 0.993610,0.006390, 737 chr21 19992302 19992303 rs535252221 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992310 19992311 rs34616875 0 + A A -/A genomic deletion by-cluster,by-frequency,by-1000genomes 0.479904 0.098205 intron exact 1 15 1000GENOMES,ABI,BGI,BL,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,LUNTER,SSMP, 2 -,A, 2002.000000,3006.000000, 0.399760,0.600240, maf-5-some-pop,maf-5-all-pops 737 chr21 19992320 19992321 rs760813432 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 DDI, 0 737 chr21 19992349 19992350 rs768590662 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992366 19992370 rs531811888 0 + TATT TATT -/TATT genomic deletion by-cluster,by-frequency,by-1000genomes 0.007955 0.062565 intron range 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 -,TATT, 20.000000,4988.000000, 0.003994,0.996006, 737 chr21 19992419 19992420 rs553945045 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19992490 19992491 rs572189405 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992495 19992496 rs139934622 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19992498 19992499 rs564133077 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19992505 19992506 rs8127805 0 + A A A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.336245 0.234652 intron exact 1 29 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 1071.000000,3937.000000, 0.213858,0.786142, maf-5-some-pop,maf-5-all-pops,genotype-conflict 737 chr21 19992534 19992535 rs78213595 0 + G G G/T genomic single by-cluster 0 0 intron exact 1 1 GMI, 0 737 chr21 19992547 19992548 rs778506316 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19992553 19992554 rs562313268 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,SSIP, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19992557 19992558 rs765283961 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992576 19992577 rs749859101 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19992593 19992594 rs149776901 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19992656 19992657 rs191759972 0 + C C A/C genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992721 19992722 rs541238317 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992740 19992741 rs765767233 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992756 19992757 rs560016154 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992785 19992786 rs183587063 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992787 19992788 rs548403325 0 + T T -/T genomic deletion by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 1 1000GENOMES, 2 -,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19992816 19992817 rs187553084 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992822 19992823 rs2824957 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-hapmap,by-1000genomes 0.471196 0.1165 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CHURCH_CG54K,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 C,T, 1903.000000,3105.000000, 0.379992,0.620008, maf-5-some-pop,maf-5-all-pops 737 chr21 19992823 19992824 rs76768620 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.014667 0.084371 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,G, 37.000000,4971.000000, 0.007388,0.992612, 737 chr21 19992841 19992842 rs79056710 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 7 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,TISHKOFF, 2 C,T, 4969.000000,39.000000, 0.992212,0.007788, 737 chr21 19992843 19992844 rs780793724 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992848 19992849 rs552065955 0 + G G A/G genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992873 19992874 rs568228151 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992878 19992879 rs535760833 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19992890 19992891 rs553672972 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 4 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19992897 19992898 rs565582258 0 + G G G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992916 19992918 rs780694255 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19992956 19992957 rs147869737 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19992959 19992960 rs559177223 0 + G G C/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19993015 19993016 rs576139137 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993034 19993035 rs531218946 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 SSIP, 0 737 chr21 19993058 19993059 rs116837516 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19993058 19993058 rs34468445 0 + - - -/C genomic insertion unknown 0 0 intron between 1 MixedObserved 1 ABI, 0 737 chr21 19993059 19993060 rs114439899 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.026788 0.112589 intron exact 1 4 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 4940.000000,68.000000, 0.986422,0.013578, 737 chr21 19993060 19993061 rs141524664 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.02016 0.098354 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 51.000000,4957.000000, 0.010184,0.989816, 737 chr21 19993133 19993134 rs145485530 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19993145 19993146 rs770188047 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19993169 19993170 rs78609889 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.072631 0.176182 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,G, 189.000000,4819.000000, 0.037740,0.962260, maf-5-some-pop 737 chr21 19993179 19993180 rs779083581 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993193 19993194 rs118149250 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,G, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19993198 19993199 rs772461423 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993246 19993247 rs775849330 0 + T T G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993255 19993256 rs545619609 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 1 1000GENOMES, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19993260 19993261 rs564127668 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993275 19993276 rs531449103 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19993296 19993297 rs191674318 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993310 19993311 rs12053721 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 4 1000GENOMES,GMI,SC_SNP,SSMP, 2 G,T, 14.000000,4994.000000, 0.002796,0.997204, 737 chr21 19993316 19993317 rs529168846 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19993401 19993402 rs568030341 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19993523 19993524 rs769417743 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993523 19993528 rs774494851 0 + TGTGA TGTGA -/TGTGA genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19993524 19993529 rs759477778 0 + GTGAT GTGAT -/GTGAT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19993524 19993524 rs770230220 0 + - - -/G genomic insertion by-cluster 0 0 intron between 1 2 EVA_DECODE,EVA_GENOME_DK, 0 737 chr21 19993528 19993528 rs568401688 0 + - - -/TTTGCCCCAAATCACCTTAGACAT genomic insertion by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron between 1 2 1000GENOMES,EVA_GENOME_DK, 2 -,TTTGCCCCAAATCACCTTAGACAT, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19993543 19993544 rs577671002 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19993553 19993554 rs773232914 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993556 19993557 rs762751306 0 + C C C/G/T genomic single unknown 0 0 intron exact 1 SingleClassTriAllelic 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993565 19993566 rs539208083 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993576 19993577 rs147691490 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19993596 19993597 rs75929251 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.039139 0.134304 intron exact 1 6 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 100.000000,4908.000000, 0.019968,0.980032, maf-5-some-pop 737 chr21 19993626 19993627 rs759045055 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993663 19993664 rs537579704 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993689 19993690 rs555460214 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19993694 19993695 rs574019420 0 + G G C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19993698 19993699 rs541356512 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19993700 19993701 rs752292209 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993704 19993705 rs769239796 0 + T T -/T genomic deletion unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19993726 19993727 rs756510439 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993732 19993733 rs764322523 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993771 19993772 rs754388708 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19993796 19993797 rs186629406 0 + C C C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993798 19993798 rs34035524 0 + - - -/C genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19993799 19993800 rs73893324 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 4 1000GENOMES,ILLUMINA-UK,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 27.000000,4981.000000, 0.005391,0.994609, 737 chr21 19993804 19993805 rs545582759 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993808 19993809 rs2824958 0 + A A A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.311614 0.242289 intron exact 1 13 1000GENOMES,BCMHGSC_JDW,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4041.000000,967.000000, 0.806909,0.193091, maf-5-some-pop 737 chr21 19993825 19993826 rs576031033 0 + G G A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19993838 19993839 rs543547195 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19993864 19993865 rs79963208 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.072631 0.176182 intron exact 1 11 1000GENOMES,DDI,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 G,T, 189.000000,4819.000000, 0.037740,0.962260, maf-5-some-pop 737 chr21 19993883 19993884 rs764029145 0 + G G G/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19993946 19993947 rs111242545 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19993976 19993977 rs542142894 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 A,G, 5003.000000,5.000000, 0.999002,0.000998, 737 chr21 19994065 19994066 rs191579293 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001995 0.031519 intron exact 1 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 5.000000,5003.000000, 0.000998,0.999002, 737 chr21 19994071 19994072 rs78874201 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.025232 0.109451 intron exact 1 5 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB, 2 A,G, 4944.000000,64.000000, 0.987220,0.012780, maf-5-some-pop 737 chr21 19994131 19994132 rs551139706 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19994156 19994157 rs2824959 0 + G G G/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.482159 0.092748 intron exact 1 31 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 G,T, 2977.000000,2031.000000, 0.594449,0.405551, maf-5-some-pop,maf-5-all-pops 737 chr21 19994259 19994260 rs2824960 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.31014 0.242659 intron exact 1 17 1000GENOMES,AFFY,BCMHGSC_JDW,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,SSMP,WEILL_CORNELL_DGM, 2 A,G, 961.000000,4047.000000, 0.191893,0.808107, maf-5-some-pop,genotype-conflict 737 chr21 19994305 19994306 rs549501355 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19994324 19994325 rs567656487 0 + C C A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19994406 19994407 rs534974654 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19994427 19994428 rs553416181 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19994438 19994439 rs371022570 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19994454 19994455 rs749958657 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19994461 19994462 rs769654205 0 + C C A/C/T genomic single by-cluster 0 0 intron exact 1 SingleClassTriAllelic 3 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 0 737 chr21 19994485 19994486 rs185671300 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19994523 19994524 rs749080445 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19994529 19994530 rs539365273 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19994549 19994550 rs190496199 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 7.000000,5001.000000, 0.001398,0.998602, 737 chr21 19994575 19994576 rs575843514 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19994597 19994598 rs770923863 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19994603 19994604 rs151012371 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19994659 19994660 rs74719245 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.074843 0.178382 intron exact 1 12 1000GENOMES,DDI,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,JMKIDD_LAB,SSMP,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 195.000000,4813.000000, 0.038938,0.961062, maf-5-some-pop 737 chr21 19994723 19994724 rs573671118 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19994739 19994740 rs140864920 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 G,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19994760 19994761 rs569781134 0 + C C A/C genomic single unknown 0 0 intron exact 1 1 JMKIDD_LAB, 0 737 chr21 19994792 19994793 rs74800440 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015454 0.086534 intron exact 1 6 1000GENOMES,BUSHMAN,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF, 2 A,C, 4969.000000,39.000000, 0.992212,0.007788, 737 chr21 19994809 19994810 rs79695334 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 G,T, 156.000000,4852.000000, 0.031150,0.968850, maf-5-some-pop 737 chr21 19994822 19994823 rs551303340 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19994846 19994847 rs563334591 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19994877 19994878 rs530682307 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19994915 19994916 rs752057782 0 + G G -/G genomic deletion by-cluster 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19994950 19994951 rs535325444 0 + A A A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19994955 19994956 rs376809442 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0 737 chr21 19994972 19994973 rs760193121 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19994974 19994975 rs73314345 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 214.000000,4794.000000, 0.042732,0.957268, maf-5-some-pop 737 chr21 19995007 19995008 rs574749224 0 + T T A/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995022 19995023 rs535142340 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19995081 19995081 rs796311445 0 + - - -/T genomic insertion unknown 0 0 intron between 1 1 HAMMER_LAB, 0 737 chr21 19995106 19995107 rs144615994 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19995170 19995171 rs138540751 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19995184 19995185 rs571700915 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19995189 19995190 rs539340365 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19995197 19995198 rs756568572 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19995284 19995285 rs141511557 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.006766 0.057769 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,C, 4991.000000,17.000000, 0.996605,0.003395, 737 chr21 19995309 19995310 rs575859129 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19995312 19995313 rs536823201 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19995321 19995322 rs117069376 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.06335 0.166319 intron exact 1 10 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4844.000000,164.000000, 0.967252,0.032748, maf-5-some-pop 737 chr21 19995332 19995333 rs750902046 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995407 19995408 rs758556049 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995411 19995412 rs573659836 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19995412 19995413 rs540760792 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19995436 19995436 rs781658547 0 + - - -/A genomic insertion by-cluster 0 0 intron between 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995452 19995453 rs552540817 0 + A A A/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 MixedObserved 1 1000GENOMES, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19995452 19995452 rs145222576 0 + - - -/A genomic insertion by-cluster,by-frequency,by-1000genomes 0.084364 0.187256 intron between 1 MixedObserved 3 1000GENOMES,HAMMER_LAB,LUNTER, 2 -,A, 4787.000000,221.000000, 0.955871,0.044129, maf-5-some-pop 737 chr21 19995527 19995528 rs76612613 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 BGI, 0 737 chr21 19995528 19995529 rs35232974 0 + A A -/A genomic deletion by-cluster,by-1000genomes 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 13 1000GENOMES,BILGI_BIOE,BUSHMAN,DDI,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,LUNTER,PJP,SSMP, 1 -, 2.000000, 1.000000, 737 chr21 19995528 19995529 rs199770827 0 + A A A/T genomic single unknown 0 0 intron exact 1 MixedObserved 1 GMI, 0 737 chr21 19995528 19995528 rs544402719 0 + - - -/A genomic insertion by-frequency,by-1000genomes 0.017025 0.090679 intron between 1 1 1000GENOMES, 2 -,A, 4965.000000,43.000000, 0.991414,0.008586, 737 chr21 19995537 19995538 rs75799280 0 + A A A/T genomic single unknown 0.5 0 intron exact 1 MixedObserved 1 ENSEMBL, 2 A,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19995537 19995538 rs397776245 0 + A A -/A genomic deletion by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 3 ABI,HGSV,HUMANGENOME_JCVI, 1 -, 2.000000, 1.000000, 737 chr21 19995540 19995541 rs113447169 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 7 1000GENOMES,BUSHMAN,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 G,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 737 chr21 19995552 19995553 rs545641813 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19995609 19995610 rs367895890 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19995621 19995622 rs749551533 0 + C C C/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19995645 19995646 rs751637937 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995662 19995663 rs544606461 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19995663 19995664 rs112477441 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.060734 0.163335 intron exact 1 9 1000GENOMES,BUSHMAN,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 C,T, 157.000000,4851.000000, 0.031350,0.968650, maf-5-some-pop 737 chr21 19995726 19995727 rs781473570 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995756 19995757 rs868172021 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19995900 19995901 rs749097948 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995927 19995927 rs34382579 0 + - - -/A genomic insertion unknown 0 0 intron between 1 1 ABI, 0 737 chr21 19995934 19995935 rs530728481 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19995955 19995956 rs73314346 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.081811 0.184966 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,C, 4794.000000,214.000000, 0.957268,0.042732, maf-5-some-pop 737 chr21 19995967 19995971 rs779063797 0 + TCTG TCTG -/TCTG genomic deletion by-cluster 0 0 intron range 1 3 EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19995981 19995982 rs185061143 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19996017 19996018 rs2824961 0 + G G A/G genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.481165 0.095199 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 2018.000000,2990.000000, 0.402955,0.597045, maf-5-some-pop,maf-5-all-pops 737 chr21 19996089 19996090 rs772317404 0 + A A A/C genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19996098 19996099 rs547165052 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19996122 19996123 rs571775700 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19996132 19996133 rs532509725 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19996143 19996144 rs137933316 0 + A A A/C genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 A,C, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19996185 19996186 rs745769331 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996198 19996199 rs111722309 0 + T T -/T genomic deletion unknown 0.5 0 intron exact 1 1 BUSHMAN, 2 -,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19996206 19996207 rs561549534 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 C,T, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19996237 19996238 rs8133363 0 + T T C/T genomic single by-cluster,by-frequency,by-hapmap,by-1000genomes 0.009143 0.066992 intron exact 1 25 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 4985.000000,23.000000, 0.995407,0.004593, 737 chr21 19996240 19996241 rs760198386 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996241 19996242 rs149614833 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.063724 0.166737 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP,WEILL_CORNELL_DGM, 2 A,G, 165.000000,4843.000000, 0.032947,0.967053, maf-5-some-pop 737 chr21 19996248 19996249 rs144321395 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,WEILL_CORNELL_DGM, 2 A,G, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19996256 19996257 rs8133375 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.481396 0.094634 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,JMKIDD_LAB,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 2021.000000,2987.000000, 0.403554,0.596446, maf-5-some-pop,maf-5-all-pops 737 chr21 19996259 19996260 rs765631437 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996264 19996265 rs533056559 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19996298 19996299 rs552603394 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19996311 19996312 rs577326336 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.002393 0.03451 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 A,G, 5002.000000,6.000000, 0.998802,0.001198, 737 chr21 19996312 19996313 rs544569507 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19996334 19996335 rs556702216 0 + G G C/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19996338 19996339 rs575471516 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,WEILL_CORNELL_DGM, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19996364 19996365 rs552842418 0 + A A A/G genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19996378 19996379 rs371705946 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19996382 19996383 rs113288909 0 + T T C/T genomic single by-cluster,by-frequency 0.5 0 intron exact 1 2 BUSHMAN,JMKIDD_LAB, 2 C,T, 2.000000,2.000000, 0.500000,0.500000, 737 chr21 19996384 19996385 rs542587275 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19996405 19996406 rs750999238 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996414 19996415 rs566256451 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 3 EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996494 19996495 rs766961315 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996505 19996506 rs188951835 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.003588 0.042202 intron exact 1 MixedObserved 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 9.000000,4999.000000, 0.001797,0.998203, 737 chr21 19996505 19996505 rs772052104 0 + - - -/T genomic insertion by-cluster 0 0 intron between 1 MixedObserved 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996553 19996554 rs2824962 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.334182 0.235401 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3946.000000,1062.000000, 0.787939,0.212061, maf-5-some-pop,maf-5-all-pops 737 chr21 19996558 19996559 rs562004247 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.01112 0.07373 intron exact 1 6 1000GENOMES,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 A,G, 28.000000,4980.000000, 0.005591,0.994409, 737 chr21 19996577 19996578 rs568372378 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19996582 19996583 rs762576578 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19996588 19996589 rs551251024 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.003986 0.044463 intron exact 1 2 1000GENOMES,SSIP, 2 A,G, 10.000000,4998.000000, 0.001997,0.998003, 737 chr21 19996637 19996638 rs757071145 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996641 19996642 rs550931950 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19996651 19996652 rs569193140 0 + G G A/G genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19996683 19996684 rs778626120 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996702 19996703 rs745644557 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996745 19996746 rs772041656 0 + C C C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996750 19996751 rs780039861 0 + C C C/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996755 19996756 rs537409231 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19996779 19996780 rs746560417 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996789 19996790 rs369319505 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19996942 19996943 rs530410952 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19996954 19996955 rs181058592 0 + C C C/T genomic single by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 1 1000GENOMES, 2 C,T, 5000.000000,8.000000, 0.998403,0.001597, 737 chr21 19996959 19996960 rs185637084 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19996964 19996965 rs776153439 0 + A A A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19996971 19996972 rs75251962 0 + C C A/C genomic single by-cluster,by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 40.000000,4968.000000, 0.007987,0.992013, 737 chr21 19996973 19996974 rs148803835 0 + T T G/T genomic single by-1000genomes 0 0 intron exact 1 1 1000GENOMES, 0 737 chr21 19996991 19996992 rs372997006 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19997023 19997024 rs558740383 0 + T T C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997034 19997035 rs570979999 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19997036 19997037 rs188151744 0 + A A A/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19997091 19997094 rs775418357 0 + TAA TAA -/TAA genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19997118 19997119 rs180993127 0 + T T A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 4 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,T, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19997129 19997130 rs769548222 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19997130 19997131 rs575168969 0 + T T C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 2.000000,5006.000000, 0.000399,0.999601, 737 chr21 19997135 19997136 rs377324389 0 + T T G/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19997175 19997176 rs73893325 0 + A A A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 2 1000GENOMES,ILLUMINA-UK, 2 A,G, 5004.000000,4.000000, 0.999201,0.000799, 737 chr21 19997180 19997181 rs554866344 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997191 19997192 rs7278372 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.376592 0.215579 intron exact 1 23 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,ILLUMINA-UK,JMKIDD_LAB,PJP,SSAHASNP,SSMP,WEILL_CORNELL_DGM, 2 G,T, 3748.000000,1260.000000, 0.748403,0.251597, maf-5-some-pop,maf-5-all-pops 737 chr21 19997201 19997204 rs764529530 0 + ATT ATT -/ATT genomic deletion unknown 0 0 intron range 1 1 EVA_DECODE, 0 737 chr21 19997232 19997233 rs540403695 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997256 19997257 rs552775296 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997293 19997294 rs191835136 0 + A A A/C genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19997312 19997313 rs544420279 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19997340 19997341 rs562897812 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19997401 19997402 rs766851985 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19997421 19997422 rs752044415 0 + A A A/C genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19997427 19997428 rs2223140 0 + C C C/T genomic single by-cluster,by-frequency,by-submitter,by-hapmap,by-1000genomes 0.384785 0.210554 intron exact 1 30 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,KRIBB_YJKIM,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM, 2 C,T, 1302.000000,3706.000000, 0.259984,0.740016, maf-5-some-pop,maf-5-all-pops 737 chr21 19997464 19997465 rs141592041 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 8 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,WEILL_CORNELL_DGM, 2 C,T, 4993.000000,15.000000, 0.997005,0.002995, 737 chr21 19997497 19997498 rs147532726 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19997499 19997500 rs200563301 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19997500 19997501 rs779306481 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19997518 19997519 rs527999808 0 + C C C/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19997521 19997522 rs552329116 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997533 19997534 rs182462591 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19997546 19997547 rs185900553 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 4 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,WEILL_CORNELL_DGM, 2 A,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19997570 19997571 rs190668312 0 + T T C/T genomic single by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 1 1000GENOMES, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19997624 19997625 rs113537229 0 + G G A/G genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 3 1000GENOMES,BUSHMAN,JMKIDD_LAB, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997691 19997692 rs535840872 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19997827 19997828 rs74392609 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 3 1000GENOMES,ILLUMINA-UK,WEILL_CORNELL_DGM, 2 C,T, 29.000000,4979.000000, 0.005791,0.994209, 737 chr21 19997832 19997833 rs573154937 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997854 19997860 rs140895130 0 + TATACT TATACT -/TATACT genomic deletion by-cluster,by-frequency,by-1000genomes 0.017417 0.091681 intron range 1 2 1000GENOMES,LUNTER, 2 -,TATACT, 44.000000,4964.000000, 0.008786,0.991214, 737 chr21 19997901 19997902 rs79141563 0 + G G G/T genomic single by-cluster 0.5 0 intron exact 1 2 ILLUMINA,ILLUMINA-UK, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19997902 19997905 rs201175492 0 + TTT TTT -/TTT genomic deletion by-cluster 0 0 intron range 1 MixedObserved 4 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 0 737 chr21 19997902 19997906 rs202188334 0 + TTTT TTTT -/TTTT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 GMI, 0 737 chr21 19997902 19997904 rs368285747 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 MixedObserved 1 BILGI_BIOE, 0 737 chr21 19997903 19997905 rs747334377 0 + TT TT -/TT genomic deletion by-cluster 0 0 intron range 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19997907 19997908 rs73202394 0 + T T G/T genomic single by-cluster 0 0 intron exact 1 MixedObserved,SingleAlleleFreq 3 ENSEMBL,GMI,WEILL_CORNELL_DGM, 1 G, 2.000000, 1.000000, 737 chr21 19997907 19997907 rs761756555 0 + - - -/G genomic insertion unknown 0 0 intron between 1 MixedObserved 1 EVA_GENOME_DK, 0 737 chr21 19997915 19997916 rs75522637 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19997918 19997920 rs869270636 0 + TT TT -/TT genomic deletion unknown 0 0 intron range 1 1 HUMANGENOME_JCVI, 0 737 chr21 19997919 19997920 rs79530629 0 + T T G/T genomic single unknown 0.5 0 intron exact 1 1 ENSEMBL, 2 G,T, 1.000000,1.000000, 0.500000,0.500000, 737 chr21 19997950 19997951 rs367685009 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 BILGI_BIOE, 0 737 chr21 19997957 19997958 rs534117873 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19997967 19997968 rs558777346 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19998011 19998012 rs376376931 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19998026 19998027 rs199965584 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19998035 19998036 rs182639865 0 + G G A/G genomic single by-frequency,by-1000genomes 0.005575 0.052504 intron exact 1 1 1000GENOMES, 2 A,G, 14.000000,4994.000000, 0.002796,0.997204, 737 chr21 19998054 19998055 rs544399513 0 + C C C/T genomic single by-cluster,by-1000genomes 0.000399 0.014124 intron exact 1 2 1000GENOMES,EVA_DECODE, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19998055 19998056 rs562800167 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998067 19998068 rs373640357 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 GMI, 0 737 chr21 19998078 19998079 rs574891454 0 + A A A/G genomic single by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 1 1000GENOMES, 2 A,G, 4979.000000,29.000000, 0.994209,0.005791, 737 chr21 19998095 19998097 rs574641313 0 + CT CT -/CT genomic deletion by-frequency,by-1000genomes 0.010725 0.072438 intron range 1 1 1000GENOMES, 2 -,CT, 27.000000,4981.000000, 0.005391,0.994609, 737 chr21 19998098 19998099 rs541828281 0 + C C C/T genomic single by-frequency,by-1000genomes 0.010725 0.072438 intron exact 1 1 1000GENOMES, 2 C,T, 4981.000000,27.000000, 0.994609,0.005391, 737 chr21 19998134 19998135 rs780309913 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19998153 19998154 rs145349101 0 + T T A/T genomic single by-frequency,by-1000genomes 0.005972 0.054319 intron exact 1 1 1000GENOMES, 2 A,T, 15.000000,4993.000000, 0.002995,0.997005, 737 chr21 19998159 19998160 rs187336647 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.05886 0.161139 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,SSMP,WEILL_CORNELL_DGM, 2 G,T, 4856.000000,152.000000, 0.969649,0.030351, maf-5-some-pop 737 chr21 19998201 19998202 rs768725354 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19998208 19998209 rs6517821 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.404559 0.196498 intron exact 1 20 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SC_JCM,SSMP,WEILL_CORNELL_DGM, 2 A,G, 3598.000000,1410.000000, 0.718450,0.281550, maf-5-some-pop,maf-5-all-pops 737 chr21 19998213 19998214 rs868556607 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19998219 19998220 rs564334117 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19998338 19998339 rs190943001 0 + C C A/C genomic single by-frequency,by-1000genomes 0.001596 0.028205 intron exact 1 1 1000GENOMES, 2 A,C, 4.000000,5004.000000, 0.000799,0.999201, 737 chr21 19998360 19998361 rs544241216 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19998415 19998416 rs550367903 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19998416 19998417 rs147694421 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.011514 0.074997 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,JMKIDD_LAB,SSMP, 2 A,G, 29.000000,4979.000000, 0.005791,0.994209, 737 chr21 19998455 19998456 rs2205477 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.377385 0.215112 intron exact 1 26 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PERLEGEN,PJP,SSMP,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 1264.000000,3744.000000, 0.252396,0.747604, maf-5-some-pop,maf-5-all-pops 737 chr21 19998537 19998540 rs150154730 0 + AGG AGG -/AGG genomic deletion by-cluster,by-1000genomes 0 0 intron range 1 2 1000GENOMES,LUNTER, 0 737 chr21 19998559 19998560 rs868007188 0 + A A A/T genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19998593 19998594 rs548193158 0 + T T G/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 G,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998619 19998620 rs75207299 0 + G G C/G genomic single by-cluster,by-frequency,by-1000genomes 0.01388 0.082142 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP,TISHKOFF, 2 C,G, 35.000000,4973.000000, 0.006989,0.993011, 737 chr21 19998638 19998639 rs534077633 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998652 19998653 rs139735034 0 + A A A/C genomic single by-cluster,by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 2 1000GENOMES,TISHKOFF, 2 A,C, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19998656 19998657 rs2205478 0 + C C A/C genomic single by-cluster,by-frequency,by-submitter,by-2hit-2allele,by-1000genomes 0.444799 0.156695 intron exact 1 29 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,JMKIDD_LAB,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WUGSC_SSAHASNP, 2 A,C, 3336.000000,1672.000000, 0.666134,0.333866, maf-5-some-pop,maf-5-all-pops 737 chr21 19998720 19998721 rs537609638 0 + A A A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19998749 19998750 rs556343679 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998752 19998753 rs372300027 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 SSMP, 0 737 chr21 19998756 19998757 rs574815166 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998759 19998760 rs182708307 0 + T T G/T genomic single by-cluster,by-frequency,by-1000genomes 0.00319 0.039809 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 8.000000,5000.000000, 0.001597,0.998403, 737 chr21 19998775 19998776 rs754479057 0 + G G G/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19998825 19998826 rs553738991 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998862 19998863 rs8126933 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.042965 0.14013 intron exact 1 5 1000GENOMES,JMKIDD_LAB,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP, 2 C,T, 110.000000,4898.000000, 0.021965,0.978035, maf-5-some-pop 737 chr21 19998885 19998886 rs73314355 0 + A A A/T genomic single by-cluster,by-frequency,by-1000genomes 0.081446 0.184634 intron exact 1 8 1000GENOMES,COMPLETE_GENOMICS,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,HAMMER_LAB,TISHKOFF,WEILL_CORNELL_DGM, 2 A,T, 4795.000000,213.000000, 0.957468,0.042532, maf-5-some-pop 737 chr21 19998906 19998907 rs564592133 0 + A A A/G genomic single by-frequency,by-1000genomes 0.002792 0.037256 intron exact 1 1 1000GENOMES, 2 A,G, 5001.000000,7.000000, 0.998602,0.001398, 737 chr21 19998909 19998910 rs868494756 0 + G G A/G genomic single unknown 0 0 intron exact 1 1 WEILL_CORNELL_DGM, 0 737 chr21 19998924 19998925 rs76544179 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.06036 0.1629 intron exact 1 7 1000GENOMES,EVA-GONL,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,ILLUMINA,SSMP,WEILL_CORNELL_DGM, 2 C,T, 4852.000000,156.000000, 0.968850,0.031150, maf-5-some-pop 737 chr21 19998927 19998928 rs543635083 0 + T T A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998930 19998931 rs562344128 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998952 19998953 rs534954546 0 + C C C/T genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 2 1000GENOMES,JMKIDD_LAB, 2 C,T, 5005.000000,3.000000, 0.999401,0.000599, 737 chr21 19998953 19998954 rs187955280 0 + G G A/G genomic single by-cluster,by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 5 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 A,G, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19998966 19998967 rs193009532 0 + T T C/T genomic single by-frequency,by-1000genomes 0.001197 0.024439 intron exact 1 1 1000GENOMES, 2 C,T, 3.000000,5005.000000, 0.000599,0.999401, 737 chr21 19998967 19998968 rs527242821 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19998973 19998974 rs114920729 0 + G G A/G genomic single by-frequency,by-1000genomes 0.015847 0.087592 intron exact 1 1 1000GENOMES, 2 A,G, 40.000000,4968.000000, 0.007987,0.992013, 737 chr21 19998979 19998980 rs149935012 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19999014 19999015 rs537337536 0 + T T A/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19999051 19999052 rs772984606 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19999064 19999065 rs982867 0 + G G A/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.444133 0.157519 intron exact 1 27 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 A,G, 3341.000000,1667.000000, 0.667133,0.332867, maf-5-some-pop,maf-5-all-pops 737 chr21 19999127 19999128 rs771257969 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19999184 19999185 rs113275926 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.006369 0.056072 intron exact 1 7 1000GENOMES,COMPLETE_GENOMICS,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,TISHKOFF,WEILL_CORNELL_DGM, 2 C,T, 16.000000,4992.000000, 0.003195,0.996805, 737 chr21 19999227 19999228 rs982868 0 + C C C/G genomic single by-cluster,by-frequency,by-2hit-2allele,by-1000genomes 0.378174 0.214642 intron exact 1 26 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,JMKIDD_LAB,PJP,SSMP,TISHKOFF,TSC-CSHL,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,G, 1268.000000,3740.000000, 0.253195,0.746805, maf-5-some-pop,maf-5-all-pops 737 chr21 19999249 19999250 rs535549017 0 + A A A/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19999292 19999293 rs767884804 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19999337 19999338 rs775590475 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19999365 19999366 rs553800424 0 + C C A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19999382 19999383 rs754342479 0 + C C C/T genomic single unknown 0 0 intron exact 1 1 EVA_DECODE, 0 737 chr21 19999398 19999399 rs8131046 0 + T T C/T genomic single by-cluster,by-frequency,by-2hit-2allele,by-hapmap,by-1000genomes 0.334871 0.235153 intron exact 1 30 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DDI,ENSEMBL,EVA-GONL,EVA_DECODE,EVA_GENOME_DK,EVA_SVP,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,HAMMER_LAB,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,JMKIDD_LAB,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WEILL_CORNELL_DGM,WI_SSAHASNP,WUGSC_SSAHASNP, 2 C,T, 3943.000000,1065.000000, 0.787340,0.212660, maf-5-some-pop,maf-5-all-pops 737 chr21 19999399 19999400 rs545766303 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19999408 19999409 rs558163729 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19999421 19999422 rs75536755 0 + G G G/T genomic single by-cluster,by-frequency,by-1000genomes 0.015061 0.08546 intron exact 1 5 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,GMI,SSMP, 2 G,T, 4970.000000,38.000000, 0.992412,0.007588, 737 chr21 19999432 19999433 rs754003977 0 + G G A/G genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19999439 19999440 rs553012837 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19999519 19999520 rs544136816 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19999568 19999569 rs562140599 0 + C C C/G genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 1 1000GENOMES, 2 C,G, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19999599 19999603 rs563007796 0 + CTAT CTAT -/CTAT genomic deletion unknown 0 0 intron range 1 1 SSIP, 0 737 chr21 19999632 19999633 rs758134753 0 + T T C/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19999649 19999650 rs529463498 0 + G G A/G/T genomic single by-frequency,by-1000genomes 0.000798 0.019964 intron exact 1 SingleClassTriAllelic,InconsistentAlleles 3 1000GENOMES,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 2 G,T, 5006.000000,2.000000, 0.999601,0.000399, 737 chr21 19999653 19999654 rs541654871 0 + T T C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19999655 19999656 rs560253927 0 + C C C/T genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 C,T, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19999747 19999748 rs527403116 0 + G G A/G genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,G, 1.000000,5007.000000, 0.000200,0.999800, 737 chr21 19999881 19999882 rs572707335 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 EVA-GONL, 0 737 chr21 19999912 19999913 rs185729156 0 + A A A/C genomic single by-1000genomes 0.000399 0.014124 intron exact 1 1 1000GENOMES, 2 A,C, 5007.000000,1.000000, 0.999800,0.000200, 737 chr21 19999938 19999939 rs73202398 0 + T T C/T genomic single by-cluster,by-frequency,by-1000genomes 0.007163 0.059414 intron exact 1 6 1000GENOMES,EVA-GONL,EVA_DECODE,EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK,SSMP, 2 C,T, 18.000000,4990.000000, 0.003594,0.996406, 737 chr21 19999979 19999980 rs754982297 0 + A A A/T genomic single unknown 0 0 intron exact 1 2 EVA_UK10K_ALSPAC,EVA_UK10K_TWINSUK, 0 737 chr21 19999984 19999985 rs375593449 0 + T T C/T genomic single unknown 0 0 intron exact 1 1 TISHKOFF, 0